ENTRY 10000v1 Variant NAME AKT3 mutation GENE AKT3 AKT serine/threonine kinase 3 [KO:K04456] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 611223 NETWORK nt06530 PI3K signaling DISEASE H01885 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome REFERENCE PMID:27860216 AUTHORS Keppler-Noreuil KM, Parker VE, Darling TN, Martinez-Agosto JA TITLE Somatic overgrowth disorders of the PI3K/AKT/mTOR pathway & therapeutic strategies. JOURNAL Am J Med Genet C Semin Med Genet 172:402-421 (2016) DOI:10.1002/ajmg.c.31531 REFERENCE PMID:30197175 AUTHORS Madsen RR, Vanhaesebroeck B, Semple RK TITLE Cancer-Associated PIK3CA Mutations in Overgrowth Disorders. JOURNAL Trends Mol Med 24:856-870 (2018) DOI:10.1016/j.molmed.2018.08.003 /// ENTRY 10026v1 Variant NAME PIGK deficiency GENE PIGK phosphatidylinositol glycan anchor biosynthesis class K [KO:K05290] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 605087 NETWORK nt06018 GPI-anchor biosynthesis DISEASE H01489 Inherited glycosylphosphatidylinositol deficiencies REFERENCE PMID:32220290 AUTHORS Nguyen TTM, Murakami Y, Mobilio S, Niceta M, Zampino G, Philippe C, Moutton S, Zaki MS, James KN, Musaev D, Mu W, Baranano K, Nance JR, Rosenfeld JA, Braverman N, Ciolfi A, Millan F, Person RE, Bruel AL, Thauvin-Robinet C, Ververi A, DeVile C, Male A, Efthymiou S, Maroofian R, Houlden H, Maqbool S, Rahman F, Baratang NV, Rousseau J, St-Denis A, Elrick MJ, Anselm I, Rodan LH, Tartaglia M, Gleeson J, Kinoshita T, Campeau PM TITLE Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy. JOURNAL Am J Hum Genet 106:484-495 (2020) DOI:10.1016/j.ajhg.2020.03.001 /// ENTRY 100v1 Variant NAME ADA deficiency GENE ADA adenosine deaminase [KO:K01488] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 608958 DRUG_TARGET Elapegademase: D11017 /// ENTRY 10111v1 Variant NAME RAD50 mutation GENE RAD50 RAD50 double strand break repair protein [KO:K10866] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 604040 NETWORK nt06506 Double-strand break repair DISEASE H01344 Nijmegen breakage syndrome REFERENCE PMID:19409520 AUTHORS Waltes R, Kalb R, Gatei M, Kijas AW, Stumm M, Sobeck A, Wieland B, Varon R, Lerenthal Y, Lavin MF, Schindler D, Dork T TITLE Human RAD50 deficiency in a Nijmegen breakage syndrome-like disorder. JOURNAL Am J Hum Genet 84:605-16 (2009) DOI:10.1016/j.ajhg.2009.04.010 /// ENTRY 10133v1 Variant NAME OPTN mutation GENE OPTN optineurin [KO:K19946] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 10133 NETWORK nt06464 Amyotrophic lateral sclerosis nt06466 Pathways of neurodegeneration nt06532 Autophagy DISEASE H00058 Amyotrophic lateral sclerosis (ALS) H00612 Primary open angle glaucoma REFERENCE PMID:20428114 AUTHORS Maruyama H, Morino H, Ito H, Izumi Y, Kato H, Watanabe Y, Kinoshita Y, Kamada M, Nodera H, Suzuki H, Komure O, Matsuura S, Kobatake K, Morimoto N, Abe K, Suzuki N, Aoki M, Kawata A, Hirai T, Kato T, Ogasawara K, Hirano A, Takumi T, Kusaka H, Hagiwara K, Kaji R, Kawakami H TITLE Mutations of optineurin in amyotrophic lateral sclerosis. JOURNAL Nature 465:223-6 (2010) DOI:10.1038/nature08971 REFERENCE PMID:28852382 AUTHORS Khalil B, Lievens JC TITLE Mitochondrial quality control in amyotrophic lateral sclerosis: towards a common pathway? JOURNAL Neural Regen Res 12:1052-1061 (2017) DOI:10.4103/1673-5374.211179 /// ENTRY 10157v1 Variant NAME AASS deficiency GENE AASS aminoadipate-semialdehyde synthase [KO:K14157] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 605113 NETWORK nt06036 Lysine degradation DISEASE H00188 Hyperlysinemia H01242 Saccharopinuria REFERENCE PMID:10775527 AUTHORS Sacksteder KA, Biery BJ, Morrell JC, Goodman BK, Geisbrecht BV, Cox RP, Gould SJ, Geraghty MT TITLE Identification of the alpha-aminoadipic semialdehyde synthase gene, which is defective in familial hyperlysinemia. JOURNAL Am J Hum Genet 66:1736-43 (2000) DOI:10.1086/302919 /// ENTRY 10195v1 Variant NAME ALG3 deficiency GENE ALG3 ALG3 alpha-1,3- mannosyltransferase [KO:K03845] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 608750 NETWORK nt06015 N-Glycan biosynthesis DISEASE H00118 Congenital disorders of glycosylation type I REFERENCE PMID:15108280 AUTHORS Denecke J, Kranz C, Kemming D, Koch HG, Marquardt T TITLE An activated 5' cryptic splice site in the human ALG3 gene generates a premature termination codon insensitive to nonsense-mediated mRNA decay in a new case of congenital disorder of glycosylation type Id (CDG-Id). JOURNAL Hum Mutat 23:477-86 (2004) DOI:10.1002/humu.20026 /// ENTRY 1019v1 Variant NAME CDK4 amplification GENE CDK4 cyclin dependent kinase 4 [KO:K02089] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION amplification ClinVar: 268075 150740 dbVar: nsv917029 NETWORK nt06230 Cell cycle nt06273 Glioma DISEASE H00042 Glioma REFERENCE PMID:7987821 AUTHORS Schmidt EE, Ichimura K, Reifenberger G, Collins VP TITLE CDKN2 (p16/MTS1) gene deletion or CDK4 amplification occurs in the majority of glioblastomas. JOURNAL Cancer Res 54:6321-4 (1994) REFERENCE PMID:8044775 AUTHORS Reifenberger G, Reifenberger J, Ichimura K, Meltzer PS, Collins VP TITLE Amplification of multiple genes from chromosomal region 12q13-14 in human malignant gliomas: preliminary mapping of the amplicons shows preferential involvement of CDK4, SAS, and MDM2. JOURNAL Cancer Res 54:4299-303 (1994) /// ENTRY 1019v2 Variant NAME CDK4 mutation GENE CDK4 cyclin dependent kinase 4 [KO:K02089] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutation R24C ClinVar: 16928 dbSNP: rs11547328 COSM: 1677139 VARIATION mutation R24H ClinVar: 16929 dbSNP: rs104894340 COSM: 1989836 NETWORK nt06230 Cell cycle nt06268 Melanoma DISEASE H00038 Melanoma REFERENCE PMID:8528263 AUTHORS Zuo L, Weger J, Yang Q, Goldstein AM, Tucker MA, Walker GJ, Hayward N, Dracopoli NC TITLE Germline mutations in the p16INK4a binding domain of CDK4 in familial melanoma. JOURNAL Nat Genet 12:97-9 (1996) DOI:10.1038/ng0196-97 REFERENCE PMID:7652577 AUTHORS Wolfel T, Hauer M, Schneider J, Serrano M, Wolfel C, Klehmann-Hieb E, De Plaen E, Hankeln T, Meyer zum Buschenfelde KH, Beach D TITLE A p16INK4a-insensitive CDK4 mutant targeted by cytolytic T lymphocytes in a human melanoma. JOURNAL Science 269:1281-4 (1995) DOI:10.1126/science.7652577 REFERENCE PMID:9425228 AUTHORS Soufir N, Avril MF, Chompret A, Demenais F, Bombled J, Spatz A, Stoppa-Lyonnet D, Benard J, Bressac-de Paillerets B TITLE Prevalence of p16 and CDK4 germline mutations in 48 melanoma-prone families in France. The French Familial Melanoma Study Group. JOURNAL Hum Mol Genet 7:209-16 (1998) DOI:10.1093/hmg/7.2.209 REFERENCE PMID:9426066 AUTHORS Tsao H, Benoit E, Sober AJ, Thiele C, Haluska FG TITLE Novel mutations in the p16/CDKN2A binding region of the cyclin-dependent kinase-4 gene. JOURNAL Cancer Res 58:109-13 (1998) /// ENTRY 10243v1 Variant NAME GPHN deficiency GENE GPHN gephyrin [KO:K15376] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 603930 NETWORK nt06025 Molybdenum cofactor biosynthesis DISEASE H02311 Molybdenum cofactor deficiency REFERENCE PMID:22040219 AUTHORS Reiss J, Lenz U, Aquaviva-Bourdain C, Joriot-Chekaf S, Mention-Mulliez K, Holder-Espinasse M TITLE A GPHN point mutation leading to molybdenum cofactor deficiency. JOURNAL Clin Genet 80:598-9 (2011) DOI:10.1111/j.1399-0004.2011.01709.x /// ENTRY 10274v1 Variant NAME STAG1 mutation GENE STAG1 STAG1 cohesin complex component [KO:K06671] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 604358 NETWORK nt06512 Chromosome cohesion and segregation DISEASE H00773 Autosomal dominant intellectual developmental disorder REFERENCE PMID:28119487 AUTHORS Lehalle D, Mosca-Boidron AL, Begtrup A, Boute-Benejean O, Charles P, Cho MT, Clarkson A, Devinsky O, Duffourd Y, Duplomb-Jego L, Gerard B, Jacquette A, Kuentz P, Masurel-Paulet A, McDougall C, Moutton S, Olivie H, Park SM, Rauch A, Revencu N, Riviere JB, Rubin K, Simonic I, Shears DJ, Smol T, Taylor Tavares AL, Terhal P, Thevenon J, Van Gassen K, Vincent-Delorme C, Willemsen MH, Wilson GN, Zackai E, Zweier C, Callier P, Thauvin-Robinet C, Faivre L TITLE STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability. JOURNAL J Med Genet 54:479-488 (2017) DOI:10.1136/jmedgenet-2016-104468 /// ENTRY 1027v1 Variant NAME CDKN1B loss GENE CDKN1B cyclin dependent kinase inhibitor 1B [KO:K06624] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION Allelic loss on 12p12-13 NETWORK nt06230 Cell cycle nt06272 Prostate cancer DISEASE H00024 Prostate cancer REFERENCE PMID:12878745 AUTHORS Nelson WG, De Marzo AM, Isaacs WB. TITLE Prostate cancer. JOURNAL N Engl J Med 349:366-81 (2003) DOI:10.1056/NEJMra021562 REFERENCE PMID:10840458 AUTHORS Kibel AS, Faith DA, Bova GS, Isaacs WB TITLE Loss of heterozygosity at 12P12-13 in primary and metastatic prostate adenocarcinoma. JOURNAL J Urol 164:192-6 (2000) DOI:10.1016/S0022-5347(05)67493-9 /// ENTRY 1027v2 Variant NAME CDKN1B reduced expression GENE CDKN1B cyclin dependent kinase inhibitor 1B [KO:K06624] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION reduced expression NETWORK nt06230 Cell cycle nt06261 Gastric cancer DISEASE H00018 Gastric cancer REFERENCE PMID:18381231 AUTHORS Panani AD TITLE Cytogenetic and molecular aspects of gastric cancer: clinical implications. JOURNAL Cancer Lett 266:99-115 (2008) DOI:10.1016/j.canlet.2008.02.053 REFERENCE PMID:10692028 AUTHORS Kim DH, Lee HI, Nam ES, Shin HS, Sohn JH, Park CH, Yoon DS, Song SY, Park YE TITLE Reduced expression of the cell-cycle inhibitor p27Kip1 is associated with progression and lymph node metastasis of gastric carcinoma. JOURNAL Histopathology 36:245-51 (2000) DOI:10.1046/j.1365-2559.2000.00842.x /// ENTRY 1027v3 Variant NAME CDKN1B mutation GENE CDKN1B cyclin dependent kinase inhibitor 1B [KO:K06624] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutation S27Gfs ClinVar: 183391 dbSNP: rs786201007 VARIATION mutation P69L ClinVar: 183393 dbSNP: rs777354267 VARIATION mutation S125Terfs ClinVar: 183395 dbSNP: rs786201011 VARIATION mutation W76Ter ClinVar: 8823 dbSNP: rs121917832 NETWORK nt06360 Cushing syndrome DISEASE H01102 Pituitary adenomas H01431 Cushing syndrome REFERENCE PMID:17519308 AUTHORS Georgitsi M, Raitila A, Karhu A, van der Luijt RB, Aalfs CM, Sane T, Vierimaa O, Makinen MJ, Tuppurainen K, Paschke R, Gimm O, Koch CA, Gundogdu S, Lucassen A, Tischkowitz M, Izatt L, Aylwin S, Bano G, Hodgson S, De Menis E, Launonen V, Vahteristo P, Aaltonen LA TITLE Germline CDKN1B/p27Kip1 mutation in multiple endocrine neoplasia. JOURNAL J Clin Endocrinol Metab 92:3321-5 (2007) DOI:10.1210/jc.2006-2843 REFERENCE PMID:20824794 AUTHORS Molatore S, Marinoni I, Lee M, Pulz E, Ambrosio MR, degli Uberti EC, Zatelli MC, Pellegata NS TITLE A novel germline CDKN1B mutation causing multiple endocrine tumors: clinical, genetic and functional characterization. JOURNAL Hum Mutat 31:E1825-35 (2010) DOI:10.1002/humu.21354 REFERENCE PMID:24819502 AUTHORS Tonelli F, Giudici F, Giusti F, Marini F, Cianferotti L, Nesi G, Brandi ML TITLE A heterozygous frameshift mutation in exon 1 of CDKN1B gene in a patient affected by MEN4 syndrome. JOURNAL Eur J Endocrinol 171:K7-K17 (2014) DOI:10.1530/EJE-14-0080 REFERENCE PMID:17030811 AUTHORS Pellegata NS, Quintanilla-Martinez L, Siggelkow H, Samson E, Bink K, Hofler H, Fend F, Graw J, Atkinson MJ TITLE Germ-line mutations in p27Kip1 cause a multiple endocrine neoplasia syndrome in rats and humans. JOURNAL Proc Natl Acad Sci U S A 103:15558-63 (2006) DOI:10.1073/pnas.0603877103 /// ENTRY 10280v1 Variant NAME SIGMAR1 mutation GENE SIGMAR1 sigma non-opioid intracellular receptor 1 [KO:K20719] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 601978 NETWORK nt06464 Amyotrophic lateral sclerosis nt06466 Pathways of neurodegeneration DISEASE H00058 Amyotrophic lateral sclerosis (ALS) REFERENCE PMID:21842496 AUTHORS Al-Saif A, Al-Mohanna F, Bohlega S TITLE A mutation in sigma-1 receptor causes juvenile amyotrophic lateral sclerosis. JOURNAL Ann Neurol 70:913-9 (2011) DOI:10.1002/ana.22534 REFERENCE PMID:25704016 AUTHORS Fukunaga K, Shinoda Y, Tagashira H TITLE The role of SIGMAR1 gene mutation and mitochondrial dysfunction in amyotrophic lateral sclerosis. JOURNAL J Pharmacol Sci 127:36-41 (2015) DOI:10.1016/j.jphs.2014.12.012 /// ENTRY 10293v1 Variant NAME TRAIP mutation GENE TRAIP TRAF interacting protein [KO:K11985] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 605958 NETWORK nt06509 DNA replication DISEASE H00992 Seckel syndrome REFERENCE PMID:26595769 AUTHORS Harley ME, Murina O, Leitch A, Higgs MR, Bicknell LS, Yigit G, Blackford AN, Zlatanou A, Mackenzie KJ, Reddy K, Halachev M, McGlasson S, Reijns MA, Fluteau A, Martin CA, Sabbioneda S, Elcioglu NH, Altmuller J, Thiele H, Greenhalgh L, Chessa L, Maghnie M, Salim M, Bober MB, Nurnberg P, Jackson SP, Hurles ME, Wollnik B, Stewart GS, Jackson AP TITLE TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism. JOURNAL Nat Genet 48:36-43 (2016) DOI:10.1038/ng.3451 /// ENTRY 1029v1 Variant NAME CDKN2A deletion GENE CDKN2A cyclin dependent kinase inhibitor 2A [KO:K06621] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION CDKN2A deletion COSM: 12523 NETWORK nt06230 Cell cycle nt06262 Pancreatic cancer nt06263 Hepatocellular carcinoma nt06265 Bladder cancer nt06268 Melanoma nt06273 Glioma nt06276 Chronic myeloid leukemia DISEASE H00004 Chronic myeloid leukemia H00019 Pancreatic cancer H00022 Bladder cancer H00038 Melanoma H00042 Glioma H00048 Hepatocellular carcinoma REFERENCE PMID:8555065 AUTHORS Serra A, Gottardi E, Della Ragione F, Saglio G, Iolascon A TITLE Involvement of the cyclin-dependent kinase-4 inhibitor (CDKN2) gene in the pathogenesis of lymphoid blast crisis of chronic myelogenous leukaemia. JOURNAL Br J Haematol 91:625-9 (1995) DOI:10.1111/j.1365-2141.1995.tb05358.x REFERENCE PMID:7718873 AUTHORS Sill H, Goldman JM, Cross NC TITLE Homozygous deletions of the p16 tumor-suppressor gene are associated with lymphoid transformation of chronic myeloid leukemia. JOURNAL Blood 85:2013-6 (1995) REFERENCE PMID:12538475 AUTHORS Berggren P, Kumar R, Sakano S, Hemminki L, Wada T, Steineck G, Adolfsson J, Larsson P, Norming U, Wijkstrom H, Hemminki K TITLE Detecting homozygous deletions in the CDKN2A(p16(INK4a))/ARF(p14(ARF)) gene in urinary bladder cancer using real-time quantitative PCR. JOURNAL Clin Cancer Res 9:235-42 (2003) REFERENCE PMID:10393843 AUTHORS Orlow I, LaRue H, Osman I, Lacombe L, Moore L, Rabbani F, Meyer F, Fradet Y, Cordon-Cardo C TITLE Deletions of the INK4A gene in superficial bladder tumors. Association with recurrence. JOURNAL Am J Pathol 155:105-13 (1999) DOI:10.1016/S0002-9440(10)65105-X REFERENCE PMID:24065197 AUTHORS Sibin MK, Bhat DI, Lavanya Ch, Manoj MJ, Aakershita S, Chetan GK TITLE CDKN2A exon-wise deletion status and novel somatic mutations in Indian glioma patients. JOURNAL Tumour Biol 35:1467-72 (2014) DOI:10.1007/s13277-013-1201-5 REFERENCE PMID:25822088 AUTHORS Schulze K, Imbeaud S, Letouze E, Alexandrov LB, Calderaro J, Rebouissou S, Couchy G, Meiller C, Shinde J, Soysouvanh F, Calatayud AL, Pinyol R, Pelletier L, Balabaud C, Laurent A, Blanc JF, Mazzaferro V, Calvo F, Villanueva A, Nault JC, Bioulac-Sage P, Stratton MR, Llovet JM, Zucman-Rossi J TITLE Exome sequencing of hepatocellular carcinomas identifies new mutational signatures and potential therapeutic targets. JOURNAL Nat Genet 47:505-511 (2015) DOI:10.1038/ng.3252 /// ENTRY 1029v2 Variant NAME CDKN2A mutation GENE CDKN2A cyclin dependent kinase inhibitor 2A [KO:K06621] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutation G23D ClinVar: 420108 dbSNP: rs1064794292 COSM: 13800 VARIATION mutation R80STOP ClinVar: 9409 dbSNP: rs121913388 COSM: 12475 VARIATION mutation H83Y ClinVar: 376307 dbSNP: rs121913385 COSM: 12504 VARIATION mutation Q50STOP ClinVar: 220711 dbSNP: rs864622636 COSM: 12506 VARIATION mutation R58STOP ClinVar: 376310 dbSNP: rs121913382 VARIATION mutation E61STOP ClinVar: 376308 dbSNP: rs121913383 VARIATION mutation E69STOP ClinVar: 376308 dbSNP: rs121913383 COSM: 13281 VARIATION mutation E88STOP ClinVar: 376305 dbSNP: rs121913384 COSM: 12512 VARIATION mutation W110STOP ClinVar: 376303 dbSNP: rs121913389 VARIATION mutation P114L ClinVar: 77637 dbSNP: rs121913386 COSM: 12476 VARIATION mutation Q50H ClinVar: 376384 dbSNP: rs1057519882 COSM: 3395757 1648141 VARIATION mutation R112G ClinVar: 233484 dbSNP: rs876660436 COSM: 12503 VARIATION mutation H123Q ClinVar: 127526 dbSNP: rs6413463 COSM: 13463 VARIATION mutation Y44STOP ClinVar: 182409 dbSNP: rs730881673 VARIATION mutation D84Y ClinVar: 376306 dbSNP: rs11552822 COSM: 13299 VARIATION mutation D108Y ClinVar: 182423 dbSNP: rs121913381 COSM: 13489 VARIATION mutation V106M COSM: 13505 VARIATION mutation M52K COSM: 13436 VARIATION mutation R107C COSM: 13788 VARIATION mutation Y129C COSM: 13633 VARIATION mutation N42D COSM: 13498 VARIATION mutation V51I COSM: 13496 VARIATION mutation V51D COSM: 3395750 VARIATION mutation A73T COSM: 13766 VARIATION mutation H98Y COSM: 13787 VARIATION mutation A85T COSM: 13786 VARIATION mutation T93R COSM: 13796 VARIATION mutation A102V COSM: 13675 VARIATION mutation A20P COSM: 13521 VARIATION mutation G35E COSM: 13259 VARIATION mutation P48L COSM: 12743 VARIATION mutation P81L COSM: 13224 VARIATION mutation E88K COSM: 12550 VARIATION mutation G89S COSM: 13723 VARIATION mutation D116Y COSM: 13807 VARIATION mutation H98P COSM: 87427 VARIATION mutation D74N COSM: 13474 VARIATION mutation D108H COSM: 13520 VARIATION mutation E69K COSM: 12508 VARIATION mutation G111D COSM: 13508 VARIATION mutation E69V COSM: 13717 VARIATION mutation A20E COSM: 12505 VARIATION mutation H66Y COSM: 13620 VARIATION mutation H83N COSM: 13705 VARIATION mutation D84H COSM: 13613 VARIATION mutation T93A COSM: 13617 VARIATION mutation E120K COSM:13296 VARIATION mutation E120A COSM: 13614 NETWORK nt06230 Cell cycle nt06262 Pancreatic cancer nt06266 Non-small cell lung cancer nt06268 Melanoma nt06276 Chronic myeloid leukemia DISEASE H00004 Chronic myeloid leukemia H00014 Non-small cell lung cancer H00019 Pancreatic cancer H00038 Melanoma REFERENCE PMID:9132280 AUTHORS Foulkes WD, Flanders TY, Pollock PM, Hayward NK TITLE The CDKN2A (p16) gene and human cancer. JOURNAL Mol Med 3:5-20 (1997) REFERENCE PMID:18505964 AUTHORS Freedberg DE, Rigas SH, Russak J, Gai W, Kaplow M, Osman I, Turner F, Randerson-Moor JA, Houghton A, Busam K, Timothy Bishop D, Bastian BC, Newton-Bishop JA, Polsky D TITLE Frequent p16-independent inactivation of p14ARF in human melanoma. JOURNAL J Natl Cancer Inst 100:784-95 (2008) DOI:10.1093/jnci/djn157 /// ENTRY 10329v1 Variant NAME TMEM5 deficiency GENE RXYLT1 ribitol xylosyltransferase 1 [KO:K21052] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 605862 NETWORK nt06013 O-Glycan biosynthesis DISEASE H00120 Muscular dystrophy-dystroglycanopathy type A REFERENCE PMID:23217329 AUTHORS Vuillaumier-Barrot S, Bouchet-Seraphin C, Chelbi M, Devisme L, Quentin S, Gazal S, Laquerriere A, Fallet-Bianco C, Loget P, Odent S, Carles D, Bazin A, Aziza J, Clemenson A, Guimiot F, Bonniere M, Monnot S, Bole-Feysot C, Bernard JP, Loeuillet L, Gonzales M, Socha K, Grandchamp B, Attie-Bitach T, Encha-Razavi F, Seta N TITLE Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly. JOURNAL Am J Hum Genet 91:1135-43 (2012) DOI:10.1016/j.ajhg.2012.10.009 /// ENTRY 10345v1 Variant NAME TRDN mutation GENE TRDN triadin [KO:K23449] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 603283 NETWORK nt06528 Calcium signaling DISEASE H01019 Catecholaminergic polymorphic ventricular tachycardia REFERENCE PMID:22422768 AUTHORS Roux-Buisson N, Cacheux M, Fourest-Lieuvin A, Fauconnier J, Brocard J, Denjoy I, Durand P, Guicheney P, Kyndt F, Leenhardt A, Le Marec H, Lucet V, Mabo P, Probst V, Monnier N, Ray PF, Santoni E, Tremeaux P, Lacampagne A, Faure J, Lunardi J, Marty I TITLE Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human. JOURNAL Hum Mol Genet 21:2759-67 (2012) DOI:10.1093/hmg/dds104 /// ENTRY 10379v1 Variant NAME IRF9 mutation GENE IRF9 interferon regulatory factor 9 [KO:K04693] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 147574 NETWORK nt06518 JAK-STAT signaling nt06527 Necroptosis DISEASE H02525 Disorders of innate immunity REFERENCE PMID:30826365 AUTHORS Bravo Garcia-Morato M, Calvo Apalategi A, Bravo-Gallego LY, Blazquez Moreno A, Simon-Fuentes M, Garmendia JV, Mendez Echevarria A, Del Rosal Rabes T, Dominguez-Soto A, Lopez-Granados E, Reyburn HT, Rodriguez Pena R TITLE Impaired control of multiple viral infections in a family with complete IRF9 deficiency. JOURNAL J Allergy Clin Immunol 144:309-312.e10 (2019) DOI:10.1016/j.jaci.2019.02.019 /// ENTRY 10381v1 Variant NAME TUBB3 mutation GENE TUBB3 tubulin beta 3 class III [KO:K07375] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 602661 NETWORK nt06515 Regulation of kinetochore-microtubule interactions DISEASE H00838 Congenital fibrosis of the extraocular muscles H01881 Complex cortical dysplasia with other brain malformations REFERENCE PMID:20074521 AUTHORS Tischfield MA, Baris HN, Wu C, Rudolph G, Van Maldergem L, He W, Chan WM, Andrews C, Demer JL, Robertson RL, Mackey DA, Ruddle JB, Bird TD, Gottlob I, Pieh C, Traboulsi EI, Pomeroy SL, Hunter DG, Soul JS, Newlin A, Sabol LJ, Doherty EJ, de Uzcategui CE, de Uzcategui N, Collins ML, Sener EC, Wabbels B, Hellebrand H, Meitinger T, de Berardinis T, Magli A, Schiavi C, Pastore-Trossello M, Koc F, Wong AM, Levin AV, Geraghty MT, Descartes M, Flaherty M, Jamieson RV, Moller HU, Meuthen I, Callen DF, Kerwin J, Lindsay S, Meindl A, Gupta ML Jr, Pellman D, Engle EC TITLE Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. JOURNAL Cell 140:74-87 (2010) DOI:10.1016/j.cell.2009.12.011 REFERENCE PMID:20829227 AUTHORS Poirier K, Saillour Y, Bahi-Buisson N, Jaglin XH, Fallet-Bianco C, Nabbout R, Castelnau-Ptakhine L, Roubertie A, Attie-Bitach T, Desguerre I, Genevieve D, Barnerias C, Keren B, Lebrun N, Boddaert N, Encha-Razavi F, Chelly J TITLE Mutations in the neuronal ss-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects. JOURNAL Hum Mol Genet 19:4462-73 (2010) DOI:10.1093/hmg/ddq377 /// ENTRY 10382v1 Variant NAME TUBB4A mutation GENE TUBB4A tubulin beta 4A class IVa [KO:K07375] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 602662 NETWORK nt06515 Regulation of kinetochore-microtubule interactions DISEASE H00679 Hypomyelinating leukodystrophy H00831 Primary dystonia REFERENCE PMID:23582646 AUTHORS Simons C, Wolf NI, McNeil N, Caldovic L, Devaney JM, Takanohashi A, Crawford J, Ru K, Grimmond SM, Miller D, Tonduti D, Schmidt JL, Chudnow RS, van Coster R, Lagae L, Kisler J, Sperner J, van der Knaap MS, Schiffmann R, Taft RJ, Vanderver A TITLE A de novo mutation in the beta-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum. JOURNAL Am J Hum Genet 92:767-73 (2013) DOI:10.1016/j.ajhg.2013.03.018 REFERENCE PMID:23595291 AUTHORS Lohmann K, Wilcox RA, Winkler S, Ramirez A, Rakovic A, Park JS, Arns B, Lohnau T, Groen J, Kasten M, Bruggemann N, Hagenah J, Schmidt A, Kaiser FJ, Kumar KR, Zschiedrich K, Alvarez-Fischer D, Altenmuller E, Ferbert A, Lang AE, Munchau A, Kostic V, Simonyan K, Agzarian M, Ozelius LJ, Langeveld AP, Sue CM, Tijssen MA, Klein C TITLE Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene. JOURNAL Ann Neurol 73:537-45 (2013) DOI:10.1002/ana.23829 /// ENTRY 10383v1 Variant NAME TUBB4B mutation GENE TUBB4B tubulin beta 4B class IVb [KO:K07375] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 602660 NETWORK nt06515 Regulation of kinetochore-microtubule interactions DISEASE H00837 Leber congenital amaurosis REFERENCE PMID:29198720 AUTHORS Luscan R, Mechaussier S, Paul A, Tian G, Gerard X, Defoort-Dellhemmes S, Loundon N, Audo I, Bonnin S, LeGargasson JF, Dumont J, Goudin N, Garfa-Traore M, Bras M, Pouliet A, Bessieres B, Boddaert N, Sahel JA, Lyonnet S, Kaplan J, Cowan NJ, Rozet JM, Marlin S, Perrault I TITLE Mutations in TUBB4B Cause a Distinctive Sensorineural Disease. JOURNAL Am J Hum Genet 101:1006-1012 (2017) DOI:10.1016/j.ajhg.2017.10.010 /// ENTRY 103v1 Variant NAME ADAR mutation GENE ADAR adenosine deaminase RNA specific [KO:K12968] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 146920 NETWORK nt06519 RLR signaling DISEASE H00290 Aicardi-Goutieres syndrome H00880 Dyschromatosis symmetrica hereditaria REFERENCE PMID:34671122 AUTHORS Crow YJ, Stetson DB TITLE The type I interferonopathies: 10 years on. JOURNAL Nat Rev Immunol 22:471-483 (2022) DOI:10.1038/s41577-021-00633-9 REFERENCE PMID:34635190 AUTHORS Masumoto J, Zhou W, Morikawa S, Hosokawa S, Taguchi H, Yamamoto T, Kurata M, Kaneko N TITLE Molecular biology of autoinflammatory diseases. JOURNAL Inflamm Regen 41:33 (2021) DOI:10.1186/s41232-021-00181-8 REFERENCE PMID:33736931 AUTHORS Quin J, Sedmik J, Vukic D, Khan A, Keegan LP, O'Connell MA TITLE ADAR RNA Modifications, the Epitranscriptome and Innate Immunity. JOURNAL Trends Biochem Sci 46:758-771 (2021) DOI:10.1016/j.tibs.2021.02.002 REFERENCE PMID:12916015 AUTHORS Miyamura Y, Suzuki T, Kono M, Inagaki K, Ito S, Suzuki N, Tomita Y TITLE Mutations of the RNA-specific adenosine deaminase gene (DSRAD) are involved in dyschromatosis symmetrica hereditaria. JOURNAL Am J Hum Genet 73:693-9 (2003) DOI:10.1086/378209 /// ENTRY 10459v1 Variant NAME MAD2L2 mutation GENE MAD2L2 mitotic arrest deficient 2 like 2 [KO:K13728] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 604094 NETWORK nt06508 Interstrand crosslink repair DISEASE H00238 Fanconi anemia REFERENCE PMID:27500492 AUTHORS Bluteau D, Masliah-Planchon J, Clairmont C, Rousseau A, Ceccaldi R, Dubois d'Enghien C, Bluteau O, Cuccuini W, Gachet S, Peffault de Latour R, Leblanc T, Socie G, Baruchel A, Stoppa-Lyonnet D, D'Andrea AD, Soulier J TITLE Biallelic inactivation of REV7 is associated with Fanconi anemia. JOURNAL J Clin Invest 126:3580-4 (2016) DOI:10.1172/JCI88010 /// ENTRY 1045v1 Variant NAME CDX2 overexpression GENE CDX2 caudal type homeobox 2 [KO:K22234] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION overexpression NETWORK nt06240 Transcription nt06261 Gastric cancer DISEASE H00018 Gastric cancer REFERENCE PMID:12474224 AUTHORS Almeida R, Silva E, Santos-Silva F, Silberg DG, Wang J, De Bolos C, David L TITLE Expression of intestine-specific transcription factors, CDX1 and CDX2, in intestinal metaplasia and gastric carcinomas. JOURNAL J Pathol 199:36-40 (2003) DOI:10.1002/path.1246 REFERENCE PMID:26073375 AUTHORS Tan P, Yeoh KG TITLE Genetics and Molecular Pathogenesis of Gastric Adenocarcinoma. JOURNAL Gastroenterology 149:1153-1162.e3 (2015) DOI:10.1053/j.gastro.2015.05.059 REFERENCE PMID:12894247 AUTHORS Yuasa Y TITLE Control of gut differentiation and intestinal-type gastric carcinogenesis. JOURNAL Nat Rev Cancer 3:592-600 (2003) DOI:10.1038/nrc1141 REFERENCE PMID:16997151 AUTHORS Vauhkonen M, Vauhkonen H, Sipponen P TITLE Pathology and molecular biology of gastric cancer. JOURNAL Best Pract Res Clin Gastroenterol 20:651-74 (2006) DOI:10.1016/j.bpg.2006.03.016 /// ENTRY 10533v1 Variant NAME ATG7 mutation GENE ATG7 autophagy related 7 [KO:K08337] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 608760 NETWORK nt06532 Autophagy DISEASE H01891 Autosomal recessive spinocerebellar ataxias REFERENCE PMID:31277291 AUTHORS Khandia R, Dadar M, Munjal A, Dhama K, Karthik K, Tiwari R, Yatoo MI, Iqbal HMN, Singh KP, Joshi SK, Chaicumpa W TITLE A Comprehensive Review of Autophagy and Its Various Roles in Infectious, Non-Infectious, and Lifestyle Diseases: Current Knowledge and Prospects for Disease Prevention, Novel Drug Design, and Therapy. JOURNAL Cells 8:cells8070674 (2019) DOI:10.3390/cells8070674 REFERENCE PMID:34161705 AUTHORS Collier JJ, Guissart C, Olahova M, Sasorith S, Piron-Prunier F, Suomi F, Zhang D, Martinez-Lopez N, Leboucq N, Bahr A, Azzarello-Burri S, Reich S, Schols L, Polvikoski TM, Meyer P, Larrieu L, Schaefer AM, Alsaif HS, Alyamani S, Zuchner S, Barbosa IA, Deshpande C, Pyle A, Rauch A, Synofzik M, Alkuraya FS, Rivier F, Ryten M, McFarland R, Delahodde A, McWilliams TG, Koenig M, Taylor RW TITLE Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans. JOURNAL N Engl J Med 384:2406-2417 (2021) DOI:10.1056/NEJMoa1915722 /// ENTRY 10535v1 Variant NAME RNASEH2A mutation GENE RNASEH2A ribonuclease H2 subunit A [KO:K10743] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 606034 NETWORK nt06509 DNA replication nt06520 CGAS-STING signaling DISEASE H00290 Aicardi-Goutieres syndrome REFERENCE PMID:23592335 AUTHORS Rice GI, Reijns MA, Coffin SR, Forte GM, Anderson BH, Szynkiewicz M, Gornall H, Gent D, Leitch A, Botella MP, Fazzi E, Gener B, Lagae L, Olivieri I, Orcesi S, Swoboda KJ, Perrino FW, Jackson AP, Crow YJ TITLE Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutieres syndrome. JOURNAL Hum Mutat 34:1066-70 (2013) DOI:10.1002/humu.22336 /// ENTRY 10559v1 Variant NAME SLC35A1 mutation GENE SLC35A1 solute carrier family 35 member A1 [KO:K15272] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 605634 NETWORK nt06015 N-Glycan biosynthesis DISEASE H00119 Congenital disorders of glycosylation type II REFERENCE PMID:15576474 AUTHORS Martinez-Duncker I, Dupre T, Piller V, Piller F, Candelier JJ, Trichet C, Tchernia G, Oriol R, Mollicone R TITLE Genetic complementation reveals a novel human congenital disorder of glycosylation of type II, due to inactivation of the Golgi CMP-sialic acid transporter. JOURNAL Blood 105:2671-6 (2005) DOI:10.1182/blood-2004-09-3509 /// ENTRY 10584v1 Variant NAME COLEC10 mutation GENE COLEC10 collectin subfamily member 10 [KO:K10065] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 607620 NETWORK nt06513 Complement cascade DISEASE H01887 3MC syndrome REFERENCE PMID:28301481 AUTHORS Munye MM, Diaz-Font A, Ocaka L, Henriksen ML, Lees M, Brady A, Jenkins D, Morton J, Hansen SW, Bacchelli C, Beales PL, Hernandez-Hernandez V TITLE COLEC10 is mutated in 3MC patients and regulates early craniofacial development. JOURNAL PLoS Genet 13:e1006679 (2017) DOI:10.1371/journal.pgen.1006679 /// ENTRY 10585v1 Variant NAME POMT1 deficiency GENE POMT1 protein O-mannosyltransferase 1 [KO:K00728] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 607423 NETWORK nt06013 O-Glycan biosynthesis DISEASE H02307 Muscular dystrophy-dystroglycanopathy REFERENCE PMID:12369018 AUTHORS Beltran-Valero de Bernabe D, Currier S, Steinbrecher A, Celli J, van Beusekom E, van der Zwaag B, Kayserili H, Merlini L, Chitayat D, Dobyns WB, Cormand B, Lehesjoki AE, Cruces J, Voit T, Walsh CA, van Bokhoven H, Brunner HG TITLE Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. JOURNAL Am J Hum Genet 71:1033-43 (2002) DOI:10.1086/342975 /// ENTRY 10599v1 Variant NAME SLCO1B1 polymorphism for decreased transporter activity GENE SLCO1B1 solute carrier organic anion transporter family member 1B1 [KO:K05043] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutation V174A ClinVar: 37346 dbSNP: rs4149056 REFERENCE PMID:24134832 AUTHORS Gharani N, Keller MA, Stack CB, Hodges LM, Schmidlen TJ, Lynch DE, Gordon ES, Christman MF TITLE The Coriell personalized medicine collaborative pharmacogenomics appraisal, evidence scoring and interpretation system. JOURNAL Genome Med 5:93 (2013) DOI:10.1186/gm499 /// ENTRY 10616v1 Variant NAME RBCK1 mutation GENE RBCK1 RANBP2-type and C3HC4-type zinc finger containing 1 [KO:K10630] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 610924 NETWORK nt06516 TNF signaling DISEASE H01744 Polyglucosan body myopathy REFERENCE PMID:28722725 AUTHORS Manthiram K, Zhou Q, Aksentijevich I, Kastner DL TITLE The monogenic autoinflammatory diseases define new pathways in human innate immunity and inflammation. JOURNAL Nat Immunol 18:832-842 (2017) DOI:10.1038/ni.3777 REFERENCE PMID:28469620 AUTHORS Aksentijevich I, Zhou Q TITLE NF-kappaB Pathway in Autoinflammatory Diseases: Dysregulation of Protein Modifications by Ubiquitin Defines a New Category of Autoinflammatory Diseases. JOURNAL Front Immunol 8:399 (2017) DOI:10.3389/fimmu.2017.00399 /// ENTRY 1062v1 Variant NAME CENPE mutation GENE CENPE centromere protein E [KO:K11498] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 117143 NETWORK nt06515 Regulation of kinetochore-microtubule interactions DISEASE H00269 Primary microcephaly REFERENCE PMID:24748105 AUTHORS Mirzaa GM, Vitre B, Carpenter G, Abramowicz I, Gleeson JG, Paciorkowski AR, Cleveland DW, Dobyns WB, O'Driscoll M TITLE Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism. JOURNAL Hum Genet 133:1023-39 (2014) DOI:10.1007/s00439-014-1443-3 /// ENTRY 1063v1 Variant NAME CENPF mutation GENE CENPF centromere protein F [KO:K11499] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 600236 NETWORK nt06515 Regulation of kinetochore-microtubule interactions DISEASE H01814 Stromme syndrome REFERENCE PMID:26820108 AUTHORS Filges I, Bruder E, Brandal K, Meier S, Undlien DE, Waage TR, Hoesli I, Schubach M, de Beer T, Sheng Y, Hoeller S, Schulzke S, Rosby O, Miny P, Tercanli S, Oppedal T, Meyer P, Selmer KK, Stromme P TITLE Stromme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF. JOURNAL Hum Mutat 37:359-63 (2016) DOI:10.1002/humu.22960 /// ENTRY 10641v1 Variant NAME NPRL2 mutation GENE NPRL2 NPR2 like, GATOR1 complex subunit [KO:K20405] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 607072 NETWORK nt06522 mTOR signaling DISEASE H02214 Familial focal epilepsy with variable foci REFERENCE PMID:27173016 AUTHORS Weckhuysen S, Marsan E, Lambrecq V, Marchal C, Morin-Brureau M, An-Gourfinkel I, Baulac M, Fohlen M, Kallay Zetchi C, Seeck M, de la Grange P, Dermaut B, Meurs A, Thomas P, Chassoux F, Leguern E, Picard F, Baulac S TITLE Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia. JOURNAL Epilepsia 57:994-1003 (2016) DOI:10.1111/epi.13391 /// ENTRY 10654v1 Variant NAME PMVK deficiency GENE PMVK phosphomevalonate kinase [KO:K13273] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 607622 NETWORK nt06034 Cholesterol biosynthesis DISEASE H01933 Porokeratosis REFERENCE PMID:26202976 AUTHORS Zhang Z, Li C, Wu F, Ma R, Luan J, Yang F, Liu W, Wang L, Zhang S, Liu Y, Gu J, Hua W, Fan M, Peng H, Meng X, Song N, Bi X, Gu C, Zhang Z, Huang Q, Chen L, Xiang L, Xu J, Zheng Z, Jiang Z TITLE Genomic variations of the mevalonate pathway in porokeratosis. JOURNAL Elife 4:e06322 (2015) DOI:10.7554/eLife.06322 /// ENTRY 10664v1 Variant NAME CTCF mutation GENE CTCF CCCTC-binding factor [KO:K23195] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 604167 NETWORK nt06512 Chromosome cohesion and segregation DISEASE H00773 Autosomal dominant intellectual developmental disorder REFERENCE PMID:23746550 AUTHORS Gregor A, Oti M, Kouwenhoven EN, Hoyer J, Sticht H, Ekici AB, Kjaergaard S, Rauch A, Stunnenberg HG, Uebe S, Vasileiou G, Reis A, Zhou H, Zweier C TITLE De novo mutations in the genome organizer CTCF cause intellectual disability. JOURNAL Am J Hum Genet 93:124-31 (2013) DOI:10.1016/j.ajhg.2013.05.007 /// ENTRY 10682v1 Variant NAME EBP deficiency GENE EBP EBP cholestenol delta-isomerase [KO:K01824] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 300205 NETWORK nt06034 Cholesterol biosynthesis DISEASE H01194 X-linked chondrodysplasia punctata H02248 MEND syndrome REFERENCE PMID:10391219 AUTHORS Braverman N, Lin P, Moebius FF, Obie C, Moser A, Glossmann H, Wilcox WR, Rimoin DL, Smith M, Kratz L, Kelley RI, Valle D TITLE Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hunermann syndrome. JOURNAL Nat Genet 22:291-4 (1999) DOI:10.1038/10357 REFERENCE PMID:20949533 AUTHORS Furtado LV, Bayrak-Toydemir P, Hulinsky B, Damjanovich K, Carey JC, Rope AF TITLE A novel X-linked multiple congenital anomaly syndrome associated with an EBP mutation. JOURNAL Am J Med Genet A 152A:2838-44 (2010) DOI:10.1002/ajmg.a.33674 /// ENTRY 10683v1 Variant NAME DLL3 mutation GENE DLL3 delta like canonical Notch ligand 3 [KO:K06051] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 602768 NETWORK nt06511 NOTCH signaling DISEASE H00517 Spondylocostal dysostosis REFERENCE PMID:22306179 AUTHORS Penton AL, Leonard LD, Spinner NB TITLE Notch signaling in human development and disease. JOURNAL Semin Cell Dev Biol 23:450-7 (2012) DOI:10.1016/j.semcdb.2012.01.010 /// ENTRY 10735v1 Variant NAME STAG2 mutation GENE STAG2 STAG2 cohesin complex component [KO:K06671] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION STAG2 mutations OmimVar: 300826 NETWORK nt06512 Chromosome cohesion and segregation DISEASE H00267 Holoprosencephaly H02582 Mullegama-Klein-Martinez syndrome REFERENCE PMID:28296084 AUTHORS Mullegama SV, Klein SD, Mulatinho MV, Senaratne TN, Singh K, Nguyen DC, Gallant NM, Strom SP, Ghahremani S, Rao NP, Martinez-Agosto JA TITLE De novo loss-of-function variants in STAG2 are associated with developmental delay, microcephaly, and congenital anomalies. JOURNAL Am J Med Genet A 173:1319-1327 (2017) DOI:10.1002/ajmg.a.38207 REFERENCE PMID:31334757 AUTHORS Kruszka P, Berger SI, Casa V, Dekker MR, Gaesser J, Weiss K, Martinez AF, Murdock DR, Louie RJ, Prijoles EJ, Lichty AW, Brouwer OF, Zonneveld-Huijssoon E, Stephan MJ, Hogue J, Hu P, Tanima-Nagai M, Everson JL, Prasad C, Cereda A, Iascone M, Schreiber A, Zurcher V, Corsten-Janssen N, Escobar L, Clegg NJ, Delgado MR, Hajirnis O, Balasubramanian M, Kayserili H, Deardorff M, Poot RA, Wendt KS, Lipinski RJ, Muenke M TITLE Cohesin complex-associated holoprosencephaly. JOURNAL Brain 142:2631-2643 (2019) DOI:10.1093/brain/awz210 /// ENTRY 10747v1 Variant NAME MASP2 mutation GENE MASP2 MBL associated serine protease 2 [KO:K03993] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 605102 NETWORK nt06513 Complement cascade DISEASE H00105 Mannose-binding lectin pathway component defects REFERENCE PMID:12904520 AUTHORS Stengaard-Pedersen K, Thiel S, Gadjeva M, Moller-Kristensen M, Sorensen R, Jensen LT, Sjoholm AG, Fugger L, Jensenius JC TITLE Inherited deficiency of mannan-binding lectin-associated serine protease 2. JOURNAL N Engl J Med 349:554-60 (2003) DOI:10.1056/NEJMoa022836 /// ENTRY 1080v1 Variant NAME CFTR mutation GENE CFTR CF transmembrane conductance regulator [KO:K05031] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION F508 deletion ClinVar: 7105 DRUG_TARGET Ivacaftor and lumacaftor: D10685 Ivacaftor and tezacaftor: D11042 Ivacaftor, tezacaftor and elexacaftor: D11700 /// ENTRY 10841v1 Variant NAME FTCD deficiency GENE FTCD formimidoyltransferase cyclodeaminase [KO:K13990] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 606806 NETWORK nt06037 Histidine metabolism DISEASE H01262 Formiminotransferase deficiency REFERENCE PMID:12815595 AUTHORS Hilton JF, Christensen KE, Watkins D, Raby BA, Renaud Y, de la Luna S, Estivill X, MacKenzie RE, Hudson TJ, Rosenblatt DS TITLE The molecular basis of glutamate formiminotransferase deficiency. JOURNAL Hum Mutat 22:67-73 (2003) DOI:10.1002/humu.10236 /// ENTRY 10844v1 Variant NAME TUBGCP2 mutation GENE TUBGCP2 tubulin gamma complex component 2 [KO:K16569] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 617817 NETWORK nt06515 Regulation of kinetochore-microtubule interactions DISEASE H02606 Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures REFERENCE PMID:31630790 AUTHORS Mitani T, Punetha J, Akalin I, Pehlivan D, Dawidziuk M, Coban Akdemir Z, Yilmaz S, Aslan E, Hunter JV, Hijazi H, Grochowski CM, Jhangiani SN, Karaca E, Fatih JM, Iwanowski P, Gambin T, Wlasienko P, Goszczanska-Ciuchta A, Bekiesinska-Figatowska M, Hosseini M, Arzhangi S, Najmabadi H, Rosenfeld JA, Du H, Marafi D, Blaser S, Teitelbaum R, Silver R, Posey JE, Ropers HH, Gibbs RA, Wiszniewski W, Lupski JR, Chitayat D, Kahrizi K, Gawlinski P TITLE Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders. JOURNAL Am J Hum Genet 105:1005-1015 (2019) DOI:10.1016/j.ajhg.2019.09.017 /// ENTRY 10878v1 Variant NAME CFHR3 mutation GENE CFHR3 complement factor H related 3 [KO:K23815] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 605336 NETWORK nt06513 Complement cascade DISEASE H00821 Age-related macular degeneration H01434 Atypical hemolytic uremic syndrome REFERENCE PMID:31156618 AUTHORS Park DH, Connor KM, Lambris JD TITLE The Challenges and Promise of Complement Therapeutics for Ocular Diseases. JOURNAL Front Immunol 10:1007 (2019) DOI:10.3389/fimmu.2019.01007 REFERENCE PMID:32950988 AUTHORS Avila Bernabeu AI, Cavero Escribano T, Cao Vilarino M TITLE Atypical Hemolytic Uremic Syndrome: New Challenges in the Complement Blockage Era. JOURNAL Nephron 144:537-549 (2020) DOI:10.1159/000508920 /// ENTRY 109v1 Variant NAME ADCY3 mutation GENE ADCY3 adenylate cyclase 3 [KO:K08043] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 600291 NETWORK nt06529 Thermogenesis DISEASE H02106 Genetic obesity REFERENCE PMID:29311636 AUTHORS Grarup N, Moltke I, Andersen MK, Dalby M, Vitting-Seerup K, Kern T, Mahendran Y, Jorsboe E, Larsen CVL, Dahl-Petersen IK, Gilly A, Suveges D, Dedoussis G, Zeggini E, Pedersen O, Andersson R, Bjerregaard P, Jorgensen ME, Albrechtsen A, Hansen T TITLE Loss-of-function variants in ADCY3 increase risk of obesity and type 2 diabetes. JOURNAL Nat Genet 50:172-174 (2018) DOI:10.1038/s41588-017-0022-7 /// ENTRY 10v1 Variant NAME NAT2 polymorphism for poor drug metabolism GENE NAT2 N-acetyltransferase 2 [KO:K00622] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION *5 mutation I114T ClinVar: 723 dbSNP: rs1801280 REFERENCE PMID:11990379 AUTHORS Butcher NJ, Boukouvala S, Sim E, Minchin RF TITLE Pharmacogenetics of the arylamine N-acetyltransferases. JOURNAL Pharmacogenomics J 2:30-42 (2002) DOI:10.1038/sj.tpj.6500053 REFERENCE PMID:17335581 AUTHORS Soejima M, Sugiura T, Kawaguchi Y, Kawamoto M, Katsumata Y, Takagi K, Nakajima A, Mitamura T, Mimori A, Hara M, Kamatani N TITLE Association of the diplotype configuration at the N-acetyltransferase 2 gene with adverse events with co-trimoxazole in Japanese patients with systemic lupus erythematosus. JOURNAL Arthritis Res Ther 9:R23 (2007) DOI:10.1186/ar2134 /// ENTRY 11019v1 Variant NAME LIAS deficiency GENE LIAS lipoic acid synthetase [KO:K03644] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 607031 NETWORK nt06032 Lipoic acid metabolism DISEASE H02438 Hyperglycinemia, lactic acidosis, and seizures REFERENCE PMID:22152680 AUTHORS Mayr JA, Zimmermann FA, Fauth C, Bergheim C, Meierhofer D, Radmayr D, Zschocke J, Koch J, Sperl W TITLE Lipoic acid synthetase deficiency causes neonatal-onset epilepsy, defective mitochondrial energy metabolism, and glycine elevation. JOURNAL Am J Hum Genet 89:792-7 (2011) DOI:10.1016/j.ajhg.2011.11.011 /// ENTRY 11041v1 Variant NAME B4GAT1 deficiency GENE B4GAT1 beta-1,4-glucuronyltransferase 1 [KO:K21032] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 605517 NETWORK nt06013 O-Glycan biosynthesis DISEASE H00120 Muscular dystrophy-dystroglycanopathy type A REFERENCE PMID:23877401 AUTHORS Shaheen R, Faqeih E, Ansari S, Alkuraya FS TITLE A truncating mutation in B3GNT1 causes severe Walker-Warburg syndrome. JOURNAL Neurogenetics 14:243-5 (2013) DOI:10.1007/s10048-013-0367-8 /// ENTRY 11152v1 Variant NAME WDR45 mutation GENE WDR45 WD repeat domain 45 [KO:K22991] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 300526 NETWORK nt06532 Autophagy DISEASE H00833 Neurodegeneration with brain iron accumulation REFERENCE PMID:33636118 AUTHORS Ji C, Zhao H, Chen D, Zhang H, Zhao YG TITLE beta-propeller proteins WDR45 and WDR45B regulate autophagosome maturation into autolysosomes in neural cells. JOURNAL Curr Biol 31:1666-1677.e6 (2021) DOI:10.1016/j.cub.2021.01.081 /// ENTRY 11186v1 Variant NAME RASSF1 loss GENE RASSF1 Ras association domain family member 1 [KO:K09850] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION Allelic loss on 3p21.3 NETWORK nt06213 Other RAS signaling nt06266 Non-small cell lung cancer DISEASE H00014 Non-small cell lung cancer REFERENCE PMID:17878233 AUTHORS Donninger H, Vos MD, Clark GJ TITLE The RASSF1A tumor suppressor. JOURNAL J Cell Sci 120:3163-72 (2007) DOI:10.1242/jcs.010389 REFERENCE PMID:15948711 AUTHORS Pfeifer GP, Dammann R. TITLE Methylation of the tumor suppressor gene RASSF1A in human tumors. JOURNAL Biochemistry (Mosc) 70:576-83 (2005) DOI:10.1007/s10541-005-0151-y REFERENCE PMID:15867363 AUTHORS Whang YM, Kim YH, Kim JS, Yoo YD TITLE RASSF1A suppresses the c-Jun-NH2-kinase pathway and inhibits cell cycle progression. JOURNAL Cancer Res 65:3682-90 (2005) DOI:10.1158/0008-5472.CAN-04-2792 /// ENTRY 11232v1 Variant NAME POLG2 mutation GENE POLG2 DNA polymerase gamma 2, accessory subunit [KO:K02333] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 604983 NETWORK nt06504 Base excision repair DISEASE H00469 Mitochondrial DNA depletion syndrome H01118 Progressive external ophthalmoplegia REFERENCE PMID:31286721 AUTHORS Lee SJ, Kanwal S, Yoo DH, Park HR, Choi BO, Chung KW TITLE A POLG2 Homozygous Mutation in an Autosomal Recessive Epilepsy Family Without Ophthalmoplegia. JOURNAL J Clin Neurol 15:418-420 (2019) DOI:10.3988/jcn.2019.15.3.418 REFERENCE PMID:16685652 AUTHORS Longley MJ, Clark S, Yu Wai Man C, Hudson G, Durham SE, Taylor RW, Nightingale S, Turnbull DM, Copeland WC, Chinnery PF TITLE Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia. JOURNAL Am J Hum Genet 78:1026-34 (2006) DOI:10.1086/504303 /// ENTRY 11274v1 Variant NAME USP18 mutation GENE USP18 ubiquitin specific peptidase 18 [KO:K11846] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 607057 NETWORK nt06518 JAK-STAT signaling DISEASE H00840 Pseudo-TORCH syndrome REFERENCE PMID:34625141 AUTHORS Luo Y, Alexander M, Gadina M, O'Shea JJ, Meylan F, Schwartz DM TITLE JAK-STAT signaling in human disease: From genetic syndromes to clinical inhibition. JOURNAL J Allergy Clin Immunol 148:911-925 (2021) DOI:10.1016/j.jaci.2021.08.004 REFERENCE PMID:27325888 AUTHORS Meuwissen ME, Schot R, Buta S, Oudesluijs G, Tinschert S, Speer SD, Li Z, van Unen L, Heijsman D, Goldmann T, Lequin MH, Kros JM, Stam W, Hermann M, Willemsen R, Brouwer RW, Van IJcken WF, Martin-Fernandez M, de Coo I, Dudink J, de Vries FA, Bertoli Avella A, Prinz M, Crow YJ, Verheijen FW, Pellegrini S, Bogunovic D, Mancini GM TITLE Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome. JOURNAL J Exp Med 213:1163-74 (2016) DOI:10.1084/jem.20151529 /// ENTRY 11277v1 Variant NAME TREX1 mutation GENE TREX1 three prime repair exonuclease 1 [KO:K10790] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 606609 NETWORK nt06520 CGAS-STING signaling DISEASE H00080 Systemic lupus erythematosus H00290 Aicardi-Goutieres syndrome H00291 Familial chilblain lupus (FCL) H01000 Retinal vasculopathy with cerebral leukodystrophy REFERENCE PMID:31358977 AUTHORS Motwani M, Pesiridis S, Fitzgerald KA TITLE DNA sensing by the cGAS-STING pathway in health and disease. JOURNAL Nat Rev Genet 20:657-674 (2019) DOI:10.1038/s41576-019-0151-1 REFERENCE PMID:28722725 AUTHORS Manthiram K, Zhou Q, Aksentijevich I, Kastner DL TITLE The monogenic autoinflammatory diseases define new pathways in human innate immunity and inflammation. JOURNAL Nat Immunol 18:832-842 (2017) DOI:10.1038/ni.3777 /// ENTRY 11284v1 Variant NAME PNKP mutation GENE PNKP polynucleotide kinase 3'-phosphatase [KO:K08073] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 605610 NETWORK nt06504 Base excision repair DISEASE H00848 Ataxia with ocular apraxia REFERENCE PMID:20118933 AUTHORS Shen J, Gilmore EC, Marshall CA, Haddadin M, Reynolds JJ, Eyaid W, Bodell A, Barry B, Gleason D, Allen K, Ganesh VS, Chang BS, Grix A, Hill RS, Topcu M, Caldecott KW, Barkovich AJ, Walsh CA TITLE Mutations in PNKP cause microcephaly, seizures and defects in DNA repair. JOURNAL Nat Genet 42:245-9 (2010) DOI:10.1038/ng.526 /// ENTRY 11285v1 Variant NAME B4GALT7 mutation GENE B4GALT7 beta-1,4-galactosyltransferase 7 [KO:K00733] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 604327 NETWORK nt06029 Glycosaminoglycan biosynthesis DISEASE H02239 Ehlers-Danlos syndrome, spondylodysplastic type REFERENCE PMID:10506123 AUTHORS Okajima T, Fukumoto S, Furukawa K, Urano T TITLE Molecular basis for the progeroid variant of Ehlers-Danlos syndrome. Identification and characterization of two mutations in galactosyltransferase I gene. JOURNAL J Biol Chem 274:28841-4 (1999) DOI:10.1074/jbc.274.41.28841 /// ENTRY 11315v1 Variant NAME PARK7 mutation GENE PARK7 Parkinsonism associated deglycase [KO:K05687] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 602533 NETWORK nt06463 Parkinson disease nt06466 Pathways of neurodegeneration DISEASE H00057 Parkinson disease REFERENCE PMID:12446870 AUTHORS Bonifati V, Rizzu P, van Baren MJ, Schaap O, Breedveld GJ, Krieger E, Dekker MC, Squitieri F, Ibanez P, Joosse M, van Dongen JW, Vanacore N, van Swieten JC, Brice A, Meco G, van Duijn CM, Oostra BA, Heutink P TITLE Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. JOURNAL Science 299:256-9 (2003) DOI:10.1126/science.1077209 REFERENCE PMID:22492997 AUTHORS Im JY, Lee KW, Woo JM, Junn E, Mouradian MM TITLE DJ-1 induces thioredoxin 1 expression through the Nrf2 pathway. JOURNAL Hum Mol Genet 21:3013-24 (2012) DOI:10.1093/hmg/dds131 REFERENCE PMID:12953260 AUTHORS Abou-Sleiman PM, Healy DG, Quinn N, Lees AJ, Wood NW TITLE The role of pathogenic DJ-1 mutations in Parkinson's disease. JOURNAL Ann Neurol 54:283-6 (2003) DOI:10.1002/ana.10675 REFERENCE PMID:15365989 AUTHORS Hering R, Strauss KM, Tao X, Bauer A, Woitalla D, Mietz EM, Petrovic S, Bauer P, Schaible W, Muller T, Schols L, Klein C, Berg D, Meyer PT, Schulz JB, Wollnik B, Tong L, Kruger R, Riess O TITLE Novel homozygous p.E64D mutation in DJ1 in early onset Parkinson disease (PARK7). JOURNAL Hum Mutat 24:321-9 (2004) DOI:10.1002/humu.20089 /// ENTRY 113189v1 Variant NAME CHST14 mutation GENE CHST14 carbohydrate sulfotransferase 14 [KO:K08105] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 608429 NETWORK nt06029 Glycosaminoglycan biosynthesis DISEASE H02246 Ehlers-Danlos syndrome musculocontractural type REFERENCE PMID:26373698 AUTHORS Janecke AR, Li B, Boehm M, Krabichler B, Rohrbach M, Muller T, Fuchs I, Golas G, Katagiri Y, Ziegler SG, Gahl WA, Wilnai Y, Zoppi N, Geller HM, Giunta C, Slavotinek A, Steinmann B TITLE The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations. JOURNAL Am J Med Genet A 170A:103-15 (2016) DOI:10.1002/ajmg.a.37383 /// ENTRY 113457v1 Variant NAME TUBA3D mutaiton GENE TUBA3D tubulin alpha 3d [KO:K07374] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 617878 NETWORK nt06515 Regulation of kinetochore-microtubule interactions DISEASE H00789 Keratoconus REFERENCE PMID:29051577 AUTHORS Hao XD, Chen P, Zhang YY, Li SX, Shi WY, Gao H TITLE De novo mutations of TUBA3D are associated with keratoconus. JOURNAL Sci Rep 7:13570 (2017) DOI:10.1038/s41598-017-13162-0 /// ENTRY 114548v1 Variant NAME NLRP3 mutation GENE NLRP3 NLR family pyrin domain containing 3 [KO:K12800] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 606416 NETWORK nt06521 NLR signaling DISEASE H00604 Deafness, autosomal dominant H02159 Familial cold autoinflammatory syndrome H02555 Muckle-Wells syndrome H02556 CINCA syndrome REFERENCE PMID:28722725 AUTHORS Manthiram K, Zhou Q, Aksentijevich I, Kastner DL TITLE The monogenic autoinflammatory diseases define new pathways in human innate immunity and inflammation. JOURNAL Nat Immunol 18:832-842 (2017) DOI:10.1038/ni.3777 REFERENCE PMID:28847925 AUTHORS Nakanishi H, Kawashima Y, Kurima K, Chae JJ, Ross AM, Pinto-Patarroyo G, Patel SK, Muskett JA, Ratay JS, Chattaraj P, Park YH, Grevich S, Brewer CC, Hoa M, Kim HJ, Butman JA, Broderick L, Hoffman HM, Aksentijevich I, Kastner DL, Goldbach-Mansky R, Griffith AJ TITLE NLRP3 mutation and cochlear autoinflammation cause syndromic and nonsyndromic hearing loss DFNA34 responsive to anakinra therapy. JOURNAL Proc Natl Acad Sci U S A 114:E7766-E7775 (2017) DOI:10.1073/pnas.1702946114 /// ENTRY 114609v1 Variant NAME TIRAP mutation GENE TIRAP TIR domain containing adaptor protein [KO:K05403] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 606252 NETWORK nt06517 TLR signaling DISEASE H00342 Tuberculosis REFERENCE PMID:18305471 AUTHORS Nejentsev S, Thye T, Szeszko JS, Stevens H, Balabanova Y, Chinbuah AM, Hibberd M, van de Vosse E, Alisjahbana B, van Crevel R, Ottenhoff TH, Png E, Drobniewski F, Todd JA, Seielstad M, Horstmann RD TITLE Analysis of association of the TIRAP (MAL) S180L variant and tuberculosis in three populations. JOURNAL Nat Genet 40:261-2; author reply 262-3 (2008) DOI:10.1038/ng0308-261 REFERENCE PMID:16991088 AUTHORS Hawn TR, Dunstan SJ, Thwaites GE, Simmons CP, Thuong NT, Lan NTN, Quy HT, Chau TTH, Hieu NT, Rodrigues S, Janer M, Zhao LP, Hien TT, Farrar JJ, Aderem A TITLE A polymorphism in Toll-interleukin 1 receptor domain containing adaptor protein is associated with susceptibility to meningeal tuberculosis. JOURNAL J Infect Dis 194:1127-1134 (2006) DOI:10.1086/507907 /// ENTRY 116150v1 Variant NAME NUS1 deficiency GENE NUS1 NUS1 dehydrodolichyl diphosphate synthase subunit [KO:K19177] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 610463 NETWORK nt06015 N-Glycan biosynthesis DISEASE H00118 Congenital disorders of glycosylation type I REFERENCE PMID:25066056 AUTHORS Park EJ, Grabinska KA, Guan Z, Stranecky V, Hartmannova H, Hodanova K, Baresova V, Sovova J, Jozsef L, Ondruskova N, Hansikova H, Honzik T, Zeman J, Hulkova H, Wen R, Kmoch S, Sessa WC TITLE Mutation of Nogo-B receptor, a subunit of cis-prenyltransferase, causes a congenital disorder of glycosylation. JOURNAL Cell Metab 20:448-57 (2014) DOI:10.1016/j.cmet.2014.06.016 /// ENTRY 1161v1 Variant NAME ERCC8 mutation GENE ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit [KO:K10570] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 609412 NETWORK nt06502 Nucleotide excision repair DISEASE H00076 Cockayne syndrome H02131 UV-sensitive syndrome REFERENCE PMID:16865293 AUTHORS Bertola DR, Cao H, Albano LMJ, Oliveira DP, Kok F, Marques-Dias MJ, Kim CA, Hegele RA TITLE Cockayne syndrome type A: novel mutations in eight typical patients. JOURNAL J Hum Genet 51:701-705 (2006) DOI:10.1007/s10038-006-0011-7 REFERENCE PMID:19329487 AUTHORS Nardo T, Oneda R, Spivak G, Vaz B, Mortier L, Thomas P, Orioli D, Laugel V, Stary A, Hanawalt PC, Sarasin A, Stefanini M TITLE A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage. JOURNAL Proc Natl Acad Sci U S A 106:6209-14 (2009) DOI:10.1073/pnas.0902113106 /// ENTRY 116228v1 Variant NAME COX20 mutation GENE COX20 cytochrome c oxidase assembly factor COX20 [KO:K18184] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 614698 NETWORK nt06529 Thermogenesis DISEASE H01368 Cytochrome c oxidase (COX) deficiency REFERENCE PMID:23125284 AUTHORS Szklarczyk R, Wanschers BF, Nijtmans LG, Rodenburg RJ, Zschocke J, Dikow N, van den Brand MA, Hendriks-Franssen MG, Gilissen C, Veltman JA, Nooteboom M, Koopman WJ, Willems PH, Smeitink JA, Huynen MA, van den Heuvel LP TITLE A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia. JOURNAL Hum Mol Genet 22:656-67 (2013) DOI:10.1093/hmg/dds473 /// ENTRY 1200v1 Variant NAME TPP1 deficiency GENE TPP1 tripeptidyl peptidase 1 [KO:K01279] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 607998 DRUG_TARGET Cerliponase alfa: D10813 /// ENTRY 120227v1 Variant NAME CYP2R1 deficiency GENE CYP2R1 cytochrome P450 family 2 subfamily R member 1 [KO:K07419] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 608713 NETWORK nt06034 Cholesterol biosynthesis DISEASE H01143 Vitamin D-dependent rickets REFERENCE PMID:15128933 AUTHORS Cheng JB, Levine MA, Bell NH, Mangelsdorf DJ, Russell DW TITLE Genetic evidence that the human CYP2R1 enzyme is a key vitamin D 25-hydroxylase. JOURNAL Proc Natl Acad Sci U S A 101:7711-5 (2004) DOI:10.1073/pnas.0402490101 /// ENTRY 120892v1 Variant NAME LRRK2 mutation GENE LRRK2 leucine rich repeat kinase 2 [KO:K08844] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 609007 NETWORK nt06463 Parkinson disease nt06466 Pathways of neurodegeneration DISEASE H00057 Parkinson disease REFERENCE PMID:19308469 AUTHORS Mata IF, Hutter CM, Gonzalez-Fernandez MC, de Pancorbo MM, Lezcano E, Huerta C, Blazquez M, Ribacoba R, Guisasola LM, Salvador C, Gomez-Esteban JC, Zarranz JJ, Infante J, Jankovic J, Deng H, Edwards KL, Alvarez V, Zabetian CP TITLE Lrrk2 R1441G-related Parkinson's disease: evidence of a common founding event in the seventh century in Northern Spain. JOURNAL Neurogenetics 10:347-53 (2009) DOI:10.1007/s10048-009-0187-z REFERENCE PMID:15541309 AUTHORS Zimprich A, Biskup S, Leitner P, Lichtner P, Farrer M, Lincoln S, Kachergus J, Hulihan M, Uitti RJ, Calne DB, Stoessl AJ, Pfeiffer RF, Patenge N, Carbajal IC, Vieregge P, Asmus F, Muller-Myhsok B, Dickson DW, Meitinger T, Strom TM, Wszolek ZK, Gasser T TITLE Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology. JOURNAL Neuron 44:601-7 (2004) DOI:10.1016/j.neuron.2004.11.005 /// ENTRY 121278v1 Variant NAME TPH2 mutation GENE TPH2 tryptophan hydroxylase 2 [KO:K00502] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 607478 NETWORK nt06028 Dopamine and serotonin metabolism DISEASE H01646 Major depressive disorder H01895 Attention deficit hyperactivity disorder (ADHD) REFERENCE PMID:15629698 AUTHORS Zhang X, Gainetdinov RR, Beaulieu JM, Sotnikova TD, Burch LH, Williams RB, Schwartz DA, Krishnan KR, Caron MG TITLE Loss-of-function mutation in tryptophan hydroxylase-2 identified in unipolar major depression. JOURNAL Neuron 45:11-6 (2005) DOI:10.1016/j.neuron.2004.12.014 REFERENCE PMID:18347598 AUTHORS McKinney J, Johansson S, Halmoy A, Dramsdahl M, Winge I, Knappskog PM, Haavik J TITLE A loss-of-function mutation in tryptophan hydroxylase 2 segregating with attention-deficit/hyperactivity disorder. JOURNAL Mol Psychiatry 13:365-7 (2008) DOI:10.1038/sj.mp.4002152 /// ENTRY 1213v1 Variant NAME CLTC mutation GENE CLTC clathrin heavy chain [KO:K04646] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 118955 NETWORK nt06515 Regulation of kinetochore-microtubule interactions DISEASE H00773 Autosomal dominant intellectual developmental disorder REFERENCE PMID:26822784 AUTHORS DeMari J, Mroske C, Tang S, Nimeh J, Miller R, Lebel RR TITLE CLTC as a clinically novel gene associated with multiple malformations and developmental delay. JOURNAL Am J Med Genet A 170A:958-66 (2016) DOI:10.1002/ajmg.a.37506 /// ENTRY 124872v1 Variant NAME B4GALNT2 SID1/Sd(a) allele GENE B4GALNT2 beta-1,4-N-acetyl-galactosaminyltransferase 2 [KO:K09655] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION polymorphism OmimVar: 111730 NETWORK nt06035 Blood group carbohydrate antigen biosynthesis REFERENCE PMID:37017600 AUTHORS Stenfelt L, Hellberg A, Olsson ML TITLE SID: a new carbohydrate blood group system based on a well-characterized but still mysterious antigen of great pathophysiologic interest. JOURNAL Immunohematology 39:1-10 (2023) DOI:10.21307/immunohematology-2023-002 /// ENTRY 124872v2 Variant NAME B4GALNT2 Sd(a-) allele GENE B4GALNT2 beta-1,4-N-acetyl-galactosaminyltransferase 2 [KO:K09655] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION polymorphism OmimVar: 111730 NETWORK nt06035 Blood group carbohydrate antigen biosynthesis REFERENCE PMID:31367682 AUTHORS Stenfelt L, Hellberg A, Moller M, Thornton N, Larson G, Olsson ML TITLE Missense mutations in the C-terminal portion of the B4GALNT2-encoded glycosyltransferase underlying the Sd(a-) phenotype. JOURNAL Biochem Biophys Rep 19:100659 (2019) DOI:10.1016/j.bbrep.2019.100659 /// ENTRY 126328v1 Variant NAME NDUFA11 mutation GENE NDUFA11 NADH:ubiquinone oxidoreductase subunit A11 [KO:K03956] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 612638 NETWORK nt06529 Thermogenesis DISEASE H00473 Mitochondrial complex I deficiency REFERENCE PMID:18306244 AUTHORS Berger I, Hershkovitz E, Shaag A, Edvardson S, Saada A, Elpeleg O TITLE Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation. JOURNAL Ann Neurol 63:405-8 (2008) DOI:10.1002/ana.21332 /// ENTRY 126792v1 Variant NAME B3GALT6 mutation GENE B3GALT6 beta-1,3-galactosyltransferase 6 [KO:K00734] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 615291 NETWORK nt06029 Glycosaminoglycan biosynthesis DISEASE H01494 SEMD with joint laxity type H02239 Ehlers-Danlos syndrome, spondylodysplastic type REFERENCE PMID:23664117 AUTHORS Nakajima M, Mizumoto S, Miyake N, Kogawa R, Iida A, Ito H, Kitoh H, Hirayama A, Mitsubuchi H, Miyazaki O, Kosaki R, Horikawa R, Lai A, Mendoza-Londono R, Dupuis L, Chitayat D, Howard A, Leal GF, Cavalcanti D, Tsurusaki Y, Saitsu H, Watanabe S, Lausch E, Unger S, Bonafe L, Ohashi H, Superti-Furga A, Matsumoto N, Sugahara K, Nishimura G, Ikegawa S TITLE Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders. JOURNAL Am J Hum Genet 92:927-34 (2013) DOI:10.1016/j.ajhg.2013.04.003 /// ENTRY 128674v1 Variant NAME PROKR2 mutations GENE PROKR2 prokineticin receptor 2 [KO:K08380] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 128674 NETWORK nt06361 Hypogonadotropic hypogonadism DISEASE H00255 Hypogonadotropic hypogonadism REFERENCE PMID:23596439 AUTHORS Dode C, Rondard P TITLE PROK2/PROKR2 Signaling and Kallmann Syndrome. JOURNAL Front Endocrinol (Lausanne) 4:19 (2013) DOI:10.3389/fendo.2013.00019 REFERENCE PMID:20502053 AUTHORS Abreu AP, Kaiser UB, Latronico AC TITLE The role of prokineticins in the pathogenesis of hypogonadotropic hypogonadism. JOURNAL Neuroendocrinology 91:283-90 (2010) DOI:10.1159/000308880 REFERENCE PMID:18559922 AUTHORS Cole LW, Sidis Y, Zhang C, Quinton R, Plummer L, Pignatelli D, Hughes VA, Dwyer AA, Raivio T, Hayes FJ, Seminara SB, Huot C, Alos N, Speiser P, Takeshita A, Van Vliet G, Pearce S, Crowley WF Jr, Zhou QY, Pitteloud N TITLE Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: molecular genetics and clinical spectrum. JOURNAL J Clin Endocrinol Metab 93:3551-9 (2008) DOI:10.1210/jc.2007-2654 REFERENCE PMID:15772293 AUTHORS Chen J, Kuei C, Sutton S, Wilson S, Yu J, Kamme F, Mazur C, Lovenberg T, Liu C TITLE Identification and pharmacological characterization of prokineticin 2 beta as a selective ligand for prokineticin receptor 1. JOURNAL Mol Pharmacol 67:2070-6 (2005) DOI:10.1124/mol.105.011619 /// ENTRY 128869v1 Variant NAME PIGU deficiency GENE PIGU phosphatidylinositol glycan anchor biosynthesis class U [KO:K05293] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 608528 NETWORK nt06018 GPI-anchor biosynthesis DISEASE H01489 Inherited glycosylphosphatidylinositol deficiencies REFERENCE PMID:31353022 AUTHORS Knaus A, Kortum F, Kleefstra T, Stray-Pedersen A, Dukic D, Murakami Y, Gerstner T, van Bokhoven H, Iqbal Z, Horn D, Kinoshita T, Hempel M, Krawitz PM TITLE Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies. JOURNAL Am J Hum Genet 105:395-402 (2019) DOI:10.1016/j.ajhg.2019.06.009 /// ENTRY 130589v1 Variant NAME GALM deficiency GENE GALM galactose mutarotase [KO:K01785] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 137030 NETWORK nt06023 Galactose degradation DISEASE H00070 Galactosemia REFERENCE PMID:30451973 AUTHORS Wada Y, Kikuchi A, Arai-Ichinoi N, Sakamoto O, Takezawa Y, Iwasawa S, Niihori T, Nyuzuki H, Nakajima Y, Ogawa E, Ishige M, Hirai H, Sasai H, Fujiki R, Shirota M, Funayama R, Yamamoto M, Ito T, Ohara O, Nakayama K, Aoki Y, Koshiba S, Fukao T, Kure S TITLE Biallelic GALM pathogenic variants cause a novel type of galactosemia. JOURNAL Genet Med 21:1286-1294 (2019) DOI:10.1038/s41436-018-0340-x /// ENTRY 131669v1 Variant NAME UROC1 deficiency GENE UROC1 urocanate hydratase 1 [KO:K01712] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 613012 NETWORK nt06037 Histidine metabolism DISEASE H01233 Urocanase deficiency REFERENCE PMID:19304569 AUTHORS Espinos C, Pineda M, Martinez-Rubio D, Lupo V, Ormazabal A, Vilaseca MA, Spaapen LJ, Palau F, Artuch R TITLE Mutations in the urocanase gene UROC1 are associated with urocanic aciduria. JOURNAL J Med Genet 46:407-11 (2009) DOI:10.1136/jmg.2008.060632 /// ENTRY 1327v1 Variant NAME COX4I1 mutation GENE COX4I1 cytochrome c oxidase subunit 4I1 [KO:K02263] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 123864 NETWORK nt06529 Thermogenesis DISEASE H01368 Cytochrome c oxidase (COX) deficiency REFERENCE PMID:28766551 AUTHORS Abu-Libdeh B, Douiev L, Amro S, Shahrour M, Ta-Shma A, Miller C, Elpeleg O, Saada A TITLE Mutation in the COX4I1 gene is associated with short stature, poor weight gain and increased chromosomal breaks, simulating Fanconi anemia. JOURNAL Eur J Hum Genet 25:1142-1146 (2017) DOI:10.1038/ejhg.2017.112 /// ENTRY 132884v1 Variant NAME EVC2 mutation GENE EVC2 EvC ciliary complex subunit 2 [KO:K19608] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 607261 NETWORK nt06501 HH signaling DISEASE H00503 Ellis-van Creveld syndrome H02158 Weyers acrofacial dysostosis REFERENCE PMID:31781166 AUTHORS Sasai N, Toriyama M, Kondo T TITLE Hedgehog Signal and Genetic Disorders. JOURNAL Front Genet 10:1103 (2019) DOI:10.3389/fgene.2019.01103 REFERENCE PMID:19876929 AUTHORS Ruiz-Perez VL, Goodship JA TITLE Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands. JOURNAL Am J Med Genet C Semin Med Genet 151C:341-51 (2009) DOI:10.1002/ajmg.c.30226 /// ENTRY 132v1 Variant NAME ADK deficiency GENE ADK adenosine kinase [KO:K00856] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 102750 NETWORK nt06030 Methionine metabolism DISEASE H00184 Hypermethioninemia REFERENCE PMID:21963049 AUTHORS Bjursell MK, Blom HJ, Cayuela JA, Engvall ML, Lesko N, Balasubramaniam S, Brandberg G, Halldin M, Falkenberg M, Jakobs C, Smith D, Struys E, von Dobeln U, Gustafsson CM, Lundeberg J, Wedell A TITLE Adenosine kinase deficiency disrupts the methionine cycle and causes hypermethioninemia, encephalopathy, and abnormal liver function. JOURNAL Am J Hum Genet 89:507-15 (2011) DOI:10.1016/j.ajhg.2011.09.004 /// ENTRY 133686v1 Variant NAME NADK2 deficiency GENE NADK2 NAD kinase 2, mitochondrial [KO:K00858] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 615787 NETWORK nt06036 Lysine degradation DISEASE H01929 2,4-Dienoyl-CoA reductase deficiency REFERENCE PMID:24847004 AUTHORS Houten SM, Denis S, Te Brinke H, Jongejan A, van Kampen AH, Bradley EJ, Baas F, Hennekam RC, Millington DS, Young SP, Frazier DM, Gucsavas-Calikoglu M, Wanders RJ TITLE Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia. JOURNAL Hum Mol Genet 23:5009-16 (2014) DOI:10.1093/hmg/ddu218 /// ENTRY 1339v1 Variant NAME COX6A2 mutation GENE COX6A2 cytochrome c oxidase subunit 6A2 [KO:K02266] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 602009 NETWORK nt06529 Thermogenesis DISEASE H01368 Cytochrome c oxidase (COX) deficiency REFERENCE PMID:31155743 AUTHORS Inoue M, Uchino S, Iida A, Noguchi S, Hayashi S, Takahashi T, Fujii K, Komaki H, Takeshita E, Nonaka I, Okada Y, Yoshizawa T, Van Lommel L, Schuit F, Goto YI, Mimaki M, Nishino I TITLE COX6A2 variants cause a muscle-specific cytochrome c oxidase deficiency. JOURNAL Ann Neurol 86:193-202 (2019) DOI:10.1002/ana.25517 /// ENTRY 1340v1 Variant NAME COX6B1 mutation GENE COX6B1 cytochrome c oxidase subunit 6B1 [KO:K02267] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 124089 NETWORK nt06529 Thermogenesis DISEASE H01368 Cytochrome c oxidase (COX) deficiency REFERENCE PMID:24781756 AUTHORS Abdulhag UN, Soiferman D, Schueler-Furman O, Miller C, Shaag A, Elpeleg O, Edvardson S, Saada A TITLE Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy. JOURNAL Eur J Hum Genet 23:159-64 (2015) DOI:10.1038/ejhg.2014.85 /// ENTRY 134701v1 Variant NAME RIPPLY2 mutation GENE RIPPLY2 ripply transcriptional repressor 2 ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 609891 NETWORK nt06511 NOTCH signaling DISEASE H00517 Spondylocostal dysostosis REFERENCE PMID:35332121 AUTHORS Zhou B, Lin W, Long Y, Yang Y, Zhang H, Wu K, Chu Q TITLE Notch signaling pathway: architecture, disease, and therapeutics. JOURNAL Signal Transduct Target Ther 7:95 (2022) DOI:10.1038/s41392-022-00934-y /// ENTRY 1351v1 Variant NAME COX8A mutation GENE COX8A cytochrome c oxidase subunit 8A [KO:K02273] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 123870 NETWORK nt06529 Thermogenesis DISEASE H01368 Cytochrome c oxidase (COX) deficiency REFERENCE PMID:26685157 AUTHORS Hallmann K, Kudin AP, Zsurka G, Kornblum C, Reimann J, Stuve B, Waltz S, Hattingen E, Thiele H, Nurnberg P, Rub C, Voos W, Kopatz J, Neumann H, Kunz WS TITLE Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy. JOURNAL Brain 139:338-45 (2016) DOI:10.1093/brain/awv357 /// ENTRY 1352v1 Variant NAME COX10 mutation GENE COX10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 [KO:K02257] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 602125 NETWORK nt06529 Thermogenesis DISEASE H01368 Cytochrome c oxidase (COX) deficiency REFERENCE PMID:10767350 AUTHORS Valnot I, von Kleist-Retzow JC, Barrientos A, Gorbatyuk M, Taanman JW, Mehaye B, Rustin P, Tzagoloff A, Munnich A, Rotig A TITLE A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiency. JOURNAL Hum Mol Genet 9:1245-9 (2000) DOI:10.1093/hmg/9.8.1245 /// ENTRY 1353v1 Variant NAME COX11 mutation GENE COX11 cytochrome c oxidase copper chaperone COX11 [KO:K02258] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 603648 NETWORK nt06529 Thermogenesis DISEASE H01368 Cytochrome c oxidase (COX) deficiency REFERENCE PMID:36030551 AUTHORS Rius R, Bennett NK, Bhattacharya K, Riley LG, Yuksel Z, Formosa LE, Compton AG, Dale RC, Cowley MJ, Gayevskiy V, Al Tala SM, Almehery AA, Ryan MT, Thorburn DR, Nakamura K, Christodoulou J TITLE Biallelic pathogenic variants in COX11 are associated with an infantile-onset mitochondrial encephalopathy. JOURNAL Hum Mutat 43:1970-1978 (2022) DOI:10.1002/humu.24453 /// ENTRY 1355v1 Variant NAME COX15 mutation GENE COX15 cytochrome c oxidase assembly homolog COX15 [KO:K02259] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 603646 REFERENCE PMID:12474143 AUTHORS Antonicka H, Mattman A, Carlson CG, Glerum DM, Hoffbuhr KC, Leary SC, Kennaway NG, Shoubridge EA TITLE Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy. JOURNAL Am J Hum Genet 72:101-14 (2003) DOI:10.1086/345489 /// ENTRY 1356v1 Variant NAME CP mutation GENE CP ceruloplasmin [KO:K13624] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 117700 NETWORK nt06525 Ferroptosis DISEASE H02206 Aceruloplasminemia REFERENCE PMID:24209437 AUTHORS Kono S TITLE Aceruloplasminemia: an update. JOURNAL Int Rev Neurobiol 110:125-51 (2013) DOI:10.1016/B978-0-12-410502-7.00007-7 REFERENCE PMID:35264864 AUTHORS Liu Z, Wang M, Zhang C, Zhou S, Ji G TITLE Molecular Functions of Ceruloplasmin in Metabolic Disease Pathology. JOURNAL Diabetes Metab Syndr Obes 15:695-711 (2022) DOI:10.2147/DMSO.S346648 /// ENTRY 1371v1 Variant NAME CPOX deficiency GENE CPOX coproporphyrinogen oxidase [KO:K00228] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 612732 NETWORK nt06011 Heme biosynthesis DISEASE H01763 Porphyria REFERENCE PMID:11309681 AUTHORS Lamoril J, Puy H, Whatley SD, Martin C, Woolf JR, Da Silva V, Deybach JC, Elder GH TITLE Characterization of mutations in the CPO gene in British patients demonstrates absence of genotype-phenotype correlation and identifies relationship between hereditary coproporphyria and harderoporphyria. JOURNAL Am J Hum Genet 68:1130-8 (2001) DOI:10.1086/320118 /// ENTRY 1373v1 Variant NAME CPS1 deficiency GENE CPS1 carbamoyl-phosphate synthase 1 [KO:K01948] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 608307 NETWORK nt06010 Urea cycle DISEASE H00164 Carbamoyl phosphate synthetase I deficiency REFERENCE PMID:17310273 AUTHORS Kurokawa K, Yorifuji T, Kawai M, Momoi T, Nagasaka H, Takayanagi M, Kobayashi K, Yoshino M, Kosho T, Adachi M, Otsuka H, Yamamoto S, Murata T, Suenaga A, Ishii T, Terada K, Shimura N, Kiwaki K, Shintaku H, Yamakawa M, Nakabayashi H, Wakutani Y, Nakahata T TITLE Molecular and clinical analyses of Japanese patients with carbamoylphosphate synthetase 1 (CPS1) deficiency. JOURNAL J Hum Genet 52:349-54 (2007) DOI:10.1007/s10038-007-0122-9 /// ENTRY 1374v1 Variant NAME CPT1A deficiency GENE CPT1A carnitine palmitoyltransferase 1A [KO:K08765] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 600528 NETWORK nt06020 beta-Oxidation in mitochondria DISEASE H01981 Carnitine palmitoyltransferase I deficiency REFERENCE PMID:12189492 AUTHORS Gobin S, Bonnefont JP, Prip-Buus C, Mugnier C, Ferrec M, Demaugre F, Saudubray JM, Rostane H, Djouadi F, Wilcox W, Cederbaum S, Haas R, Nyhan WL, Green A, Gray G, Girard J, Thuillier L TITLE Organization of the human liver carnitine palmitoyltransferase 1 gene ( CPT1A) and identification of novel mutations in hypoketotic hypoglycaemia. JOURNAL Hum Genet 111:179-89 (2002) DOI:10.1007/s00439-002-0752-0 /// ENTRY 137682v1 Variant NAME NDUFAF6 mutation GENE NDUFAF6 NADH:ubiquinone oxidoreductase complex assembly factor 6 [KO:K18163] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 612392 NETWORK nt06529 Thermogenesis DISEASE H00473 Mitochondrial complex I deficiency REFERENCE PMID:27466185 AUTHORS Hartmannova H, Piherova L, Tauchmannova K, Kidd K, Acott PD, Crocker JF, Oussedik Y, Mallet M, Hodanova K, Stranecky V, Pristoupilova A, Baresova V, Jedlickova I, Zivna M, Sovova J, Hulkova H, Robins V, Vrbacky M, Pecina P, Kaplanova V, Houstek J, Mracek T, Thibeault Y, Bleyer AJ, Kmoch S TITLE Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6. JOURNAL Hum Mol Genet 25:4062-4079 (2016) DOI:10.1093/hmg/ddw245 /// ENTRY 1376v1 Variant NAME CPT2 deficiency GENE CPT2 carnitine palmitoyltransferase 2 [KO:K08766] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 600650 NETWORK nt06020 beta-Oxidation in mitochondria DISEASE H01982 Carnitine palmitoyltransferase II deficiency REFERENCE PMID:12410208 AUTHORS Vladutiu GD, Quackenbush EJ, Hainline BE, Albers S, Smail DS, Bennett MJ TITLE Lethal neonatal and severe late infantile forms of carnitine palmitoyltransferase II deficiency associated with compound heterozygosity for different protein truncation mutations. JOURNAL J Pediatr 141:734-6 (2002) DOI:10.1067/mpd.2002.128545 /// ENTRY 138050v1 Variant NAME HGSNAT deficiency GENE HGSNAT heparan-alpha-glucosaminide N-acetyltransferase [KO:K10532] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 610453 NETWORK nt06012 Glycosaminoglycan degradation DISEASE H00130 Mucopolysaccharidosis type III REFERENCE PMID:19479962 AUTHORS Feldhammer M, Durand S, Mrazova L, Boucher RM, Laframboise R, Steinfeld R, Wraith JE, Michelakakis H, van Diggelen OP, Hrebicek M, Kmoch S, Pshezhetsky AV TITLE Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene. JOURNAL Hum Mutat 30:918-25 (2009) DOI:10.1002/humu.20986 /// ENTRY 1380v1 Variant NAME CR2 mutation GENE CR2 complement C3d receptor 2 [KO:K04012] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 120650 NETWORK nt06530 PI3K signaling DISEASE H00088 Common variable immunodeficiency REFERENCE PMID:22035880 AUTHORS Thiel J, Kimmig L, Salzer U, Grudzien M, Lebrecht D, Hagena T, Draeger R, Voelxen N, Bergbreiter A, Jennings S, Gutenberger S, Aichem A, Illges H, Hannan JP, Kienzler AK, Rizzi M, Eibel H, Peter HH, Warnatz K, Grimbacher B, Rump JA, Schlesier M TITLE Genetic CD21 deficiency is associated with hypogammaglobulinemia. JOURNAL J Allergy Clin Immunol 129:801-810.e6 (2012) DOI:10.1016/j.jaci.2011.09.027 /// ENTRY 1457v1 Variant NAME CSNK2A1 mutation GENE CSNK2A1 casein kinase 2 alpha 1 [KO:K03097] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 115440 NETWORK nt06512 Chromosome cohesion and segregation nt06523 Epigenetic regulation by Polycomb complexes DISEASE H02460 Neurodevelopmental disorder with dysmorphic facies and skeletal anomalies REFERENCE PMID:27048600 AUTHORS Okur V, Cho MT, Henderson L, Retterer K, Schneider M, Sattler S, Niyazov D, Azage M, Smith S, Picker J, Lincoln S, Tarnopolsky M, Brady L, Bjornsson HT, Applegate C, Dameron A, Willaert R, Baskin B, Juusola J, Chung WK TITLE De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features. JOURNAL Hum Genet 135:699-705 (2016) DOI:10.1007/s00439-016-1661-y /// ENTRY 145873v1 Variant NAME MESP2 mutation GENE MESP2 mesoderm posterior bHLH transcription factor 2 [KO:K09076] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 605195 NETWORK nt06511 NOTCH signaling DISEASE H00517 Spondylocostal dysostosis REFERENCE PMID:35332121 AUTHORS Zhou B, Lin W, Long Y, Yang Y, Zhang H, Wu K, Chu Q TITLE Notch signaling pathway: architecture, disease, and therapeutics. JOURNAL Signal Transduct Target Ther 7:95 (2022) DOI:10.1038/s41392-022-00934-y /// ENTRY 1460v1 Variant NAME CSNK2B mutation GENE CSNK2B casein kinase 2 beta [KO:K03115] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 115441 NETWORK nt06523 Epigenetic regulation by Polycomb complexes DISEASE H02635 Poirier-Bienvenu neurodevelopmental syndrome REFERENCE PMID:28585349 AUTHORS Poirier K, Hubert L, Viot G, Rio M, Billuart P, Besmond C, Bienvenu T TITLE CSNK2B splice site mutations in patients cause intellectual disability with or without myoclonic epilepsy. JOURNAL Hum Mutat 38:932-941 (2017) DOI:10.1002/humu.23270 /// ENTRY 148022v1 Variant NAME TICAM1 mutation GENE TICAM1 TIR domain containing adaptor molecule 1 [KO:K05842] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 607601 NETWORK nt06517 TLR signaling nt06527 Necroptosis DISEASE H02536 Infection-induced acute encephalopathy REFERENCE PMID:22105173 AUTHORS Sancho-Shimizu V, Perez de Diego R, Lorenzo L, Halwani R, Alangari A, Israelsson E, Fabrega S, Cardon A, Maluenda J, Tatematsu M, Mahvelati F, Herman M, Ciancanelli M, Guo Y, AlSum Z, Alkhamis N, Al-Makadma AS, Ghadiri A, Boucherit S, Plancoulaine S, Picard C, Rozenberg F, Tardieu M, Lebon P, Jouanguy E, Rezaei N, Seya T, Matsumoto M, Chaussabel D, Puel A, Zhang SY, Abel L, Al-Muhsen S, Casanova JL TITLE Herpes simplex encephalitis in children with autosomal recessive and dominant TRIF deficiency. JOURNAL J Clin Invest 121:4889-902 (2011) DOI:10.1172/JCI59259 /// ENTRY 148738v1 Variant NAME HJV mutation GENE HJV hemojuvelin BMP co-receptor [KO:K23100] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 608374 NETWORK nt06507 TGFB signaling DISEASE H00211 Hemochromatosis REFERENCE PMID:30420953 AUTHORS Pantopoulos K TITLE Inherited Disorders of Iron Overload. JOURNAL Front Nutr 5:103 (2018) DOI:10.3389/fnut.2018.00103 /// ENTRY 148789v1 Variant NAME B3GALNT2 deficiency GENE B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 [KO:K09654] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 610194 NETWORK nt06013 O-Glycan biosynthesis DISEASE H00120 Muscular dystrophy-dystroglycanopathy type A REFERENCE PMID:23453667 AUTHORS Stevens E, Carss KJ, Cirak S, Foley AR, Torelli S, Willer T, Tambunan DE, Yau S, Brodd L, Sewry CA, Feng L, Haliloglu G, Orhan D, Dobyns WB, Enns GM, Manning M, Krause A, Salih MA, Walsh CA, Hurles M, Campbell KP, Manzini MC, Stemple D, Lin YY, Muntoni F TITLE Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of alpha-dystroglycan. JOURNAL Am J Hum Genet 92:354-65 (2013) DOI:10.1016/j.ajhg.2013.01.016 /// ENTRY 1487v1 Variant NAME CTBP1 mutation GENE CTBP1 C-terminal binding protein 1 [KO:K04496] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 602618 NETWORK nt06523 Epigenetic regulation by Polycomb complexes DISEASE H02619 Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome REFERENCE PMID:27094857 AUTHORS Beck DB, Cho MT, Millan F, Yates C, Hannibal M, O'Connor B, Shinawi M, Connolly AM, Waggoner D, Halbach S, Angle B, Sanders V, Shen Y, Retterer K, Begtrup A, Bai R, Chung WK TITLE A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects. JOURNAL Neurogenetics 17:173-8 (2016) DOI:10.1007/s10048-016-0482-4 /// ENTRY 1491v1 Variant NAME CTH deficiency GENE CTH cystathionine gamma-lyase [KO:K01758] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 607657 NETWORK nt06030 Methionine metabolism DISEASE H00182 Cystathioninuria REFERENCE PMID:12574942 AUTHORS Wang J, Hegele RA TITLE Genomic basis of cystathioninuria (MIM 219500) revealed by multiple mutations in cystathionine gamma-lyase (CTH). JOURNAL Hum Genet 112:404-8 (2003) DOI:10.1007/s00439-003-0906-8 /// ENTRY 149233v1 Variant NAME IL23R mutation GENE IL23R interleukin 23 receptor [KO:K05065] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 607562 NETWORK nt06518 JAK-STAT signaling DISEASE H01227 Inflammatory bowel disease (IBD) REFERENCE PMID:26257098 AUTHORS de Lange KM, Barrett JC TITLE Understanding inflammatory bowel disease via immunogenetics. JOURNAL J Autoimmun 64:91-100 (2015) DOI:10.1016/j.jaut.2015.07.013 REFERENCE PMID:18500230 AUTHORS Cho JH TITLE The genetics and immunopathogenesis of inflammatory bowel disease. JOURNAL Nat Rev Immunol 8:458-66 (2008) DOI:10.1038/nri2340 REFERENCE PMID:24751956 AUTHORS Neurath MF TITLE Cytokines in inflammatory bowel disease. JOURNAL Nat Rev Immunol 14:329-42 (2014) DOI:10.1038/nri3661 /// ENTRY 1493v1 Variant NAME CTLA4 mutation GENE CTLA4 cytotoxic T-lymphocyte associated protein 4 [KO:K06538] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 123890 NETWORK nt06530 PI3K signaling DISEASE H00080 Systemic lupus erythematosus H00081 Hashimoto thyroiditis H00108 Autoimmune lymphoproliferative syndromes REFERENCE PMID:19950182 AUTHORS Jury EC, Flores-Borja F, Kalsi HS, Lazarus M, Isenberg DA, Mauri C, Ehrenstein MR TITLE Abnormal CTLA-4 function in T cells from patients with systemic lupus erythematosus. JOURNAL Eur J Immunol 40:569-78 (2010) DOI:10.1002/eji.200939781 REFERENCE PMID:12724780 AUTHORS Ueda H, Howson JM, Esposito L, Heward J, Snook H, Chamberlain G, Rainbow DB, Hunter KM, Smith AN, Di Genova G, Herr MH, Dahlman I, Payne F, Smyth D, Lowe C, Twells RC, Howlett S, Healy B, Nutland S, Rance HE, Everett V, Smink LJ, Lam AC, Cordell HJ, Walker NM, Bordin C, Hulme J, Motzo C, Cucca F, Hess JF, Metzker ML, Rogers J, Gregory S, Allahabadia A, Nithiyananthan R, Tuomilehto-Wolf E, Tuomilehto J, Bingley P, Gillespie KM, Undlien DE, Ronningen KS, Guja C, Ionescu-Tirgoviste C, Savage DA, Maxwell AP, Carson DJ, Patterson CC, Franklyn JA, Clayton DG, Peterson LB, Wicker LS, Todd JA, Gough SC TITLE Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease. JOURNAL Nature 423:506-11 (2003) DOI:10.1038/nature01621 REFERENCE PMID:25213377 AUTHORS Kuehn HS, Ouyang W, Lo B, Deenick EK, Niemela JE, Avery DT, Schickel JN, Tran DQ, Stoddard J, Zhang Y, Frucht DM, Dumitriu B, Scheinberg P, Folio LR, Frein CA, Price S, Koh C, Heller T, Seroogy CM, Huttenlocher A, Rao VK, Su HC, Kleiner D, Notarangelo LD, Rampertaap Y, Olivier KN, McElwee J, Hughes J, Pittaluga S, Oliveira JB, Meffre E, Fleisher TA, Holland SM, Lenardo MJ, Tangye SG, Uzel G TITLE Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4. JOURNAL Science 345:1623-1627 (2014) DOI:10.1126/science.1255904 /// ENTRY 1499v1 Variant NAME CTNNB1 mutation GENE CTNNB1 catenin beta 1 [KO:K02105] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutation S33Y ClinVar: 17577 dbSNP: rs121913400 COSM: 5673 VARIATION mutation S45del ClinVar: 17576 dbSNP: rs587776850 VARIATION mutation T41A ClinVar: 17580 dbSNP: rs121913412 COSM: 5664 VARIATION mutation T41I ClinVar: 17587 dbSNP: rs121913413 COSM: 5676 VARIATION mutation S45F ClinVar: 17588 dbSNP: rs121913409 COSM: 5667 VARIATION mutation S45C ClinVar: 376242 dbSNP: rs121913409 COSM: 5689 VARIATION mutation S37A ClinVar: 376235 dbSNP: rs121913228 COSM: 5675 VARIATION mutation S37C ClinVar: 17579 dbSNP: rs121913403 COSM: 5679 VARIATION mutation S33F ClinVar: 17583 dbSNP: rs121913400 COSM: 5669 VARIATION mutation G34V ClinVar: 17582 dbSNP: rs28931589 VARIATION mutation S33C ClinVar: 376231 dbSNP: rs121913400 COSM: 5677 VARIATION mutation G34E ClinVar: 17584 dbSNP: rs28931589 COSM: 5671 VARIATION mutation G34R ClinVar: 376233 376232 dbSNP: rs121913399 COSM: 5686 VARIATION mutation S45P ClinVar: 17589 dbSNP: rs121913407 COSM: 5663 VARIATION mutation D32G ClinVar: 17578 dbSNP: rs121913396 COSM: 5681 VARIATION mutation D32N ClinVar: 376228 dbSNP: rs28931588 COSM: 5672 VARIATION mutation S45Y ClinVar: 375895 dbSNP: rs121913409 COSM: 5692 VARIATION mutation H36P COSM: 5678 NETWORK nt06215 WNT signaling nt06260 Colorectal cancer nt06263 Hepatocellular carcinoma nt06271 Endometrial cancer nt06505 WNT signaling DISEASE H00020 Colorectal cancer H00026 Endometrial cancer H00048 Hepatocellular carcinoma REFERENCE PMID:9065402 AUTHORS Morin PJ, Sparks AB, Korinek V, Barker N, Clevers H, Vogelstein B, Kinzler KW TITLE Activation of beta-catenin-Tcf signaling in colon cancer by mutations in beta-catenin or APC. JOURNAL Science 275:1787-90 (1997) DOI:10.1126/science.275.5307.1787 REFERENCE PMID:25313745 AUTHORS Rafael S, Veganzones S, Vidaurreta M, de la Orden V, Maestro ML TITLE Effect of beta-catenin alterations in the prognosis of patients with sporadic colorectal cancer. JOURNAL J Cancer Res Ther 10:591-6 (2014) DOI:10.4103/0973-1482.139161 REFERENCE PMID:9721853 AUTHORS Fukuchi T, Sakamoto M, Tsuda H, Maruyama K, Nozawa S, Hirohashi S TITLE Beta-catenin mutation in carcinoma of the uterine endometrium. JOURNAL Cancer Res 58:3526-8 (1998) REFERENCE PMID:12845670 AUTHORS Edamoto Y, Hara A, Biernat W, Terracciano L, Cathomas G, Riehle HM, Matsuda M, Fujii H, Scoazec JY, Ohgaki H TITLE Alterations of RB1, p53 and Wnt pathways in hepatocellular carcinomas associated with hepatitis C, hepatitis B and alcoholic liver cirrhosis. JOURNAL Int J Cancer 106:334-41 (2003) DOI:10.1002/ijc.11254 /// ENTRY 151648v1 Variant NAME SGO1 mutation GENE SGO1 shugoshin 1 [KO:K11580] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 609168 NETWORK nt06512 Chromosome cohesion and segregation DISEASE H02122 Chronic atrial and intestinal dysrhythmia REFERENCE PMID:25282101 AUTHORS Chetaille P, Preuss C, Burkhard S, Cote JM, Houde C, Castilloux J, Piche J, Gosset N, Leclerc S, Wunnemann F, Thibeault M, Gagnon C, Galli A, Tuck E, Hickson GR, El Amine N, Boufaied I, Lemyre E, de Santa Barbara P, Faure S, Jonzon A, Cameron M, Dietz HC, Gallo-McFarlane E, Benson DW, Moreau C, Labuda D, Zhan SH, Shen Y, Jomphe M, Jones SJ, Bakkers J, Andelfinger G TITLE Mutations in SGOL1 cause a novel cohesinopathy affecting heart and gut rhythm. JOURNAL Nat Genet 46:1245-9 (2014) DOI:10.1038/ng.3113 /// ENTRY 1537v1 Variant NAME CYC1 mutation GENE CYC1 cytochrome c1 [KO:K00413] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 123980 NETWORK nt06529 Thermogenesis DISEASE H02086 Mitochondrial complex III deficiency REFERENCE PMID:23910460 AUTHORS Gaignard P, Menezes M, Schiff M, Bayot A, Rak M, Ogier de Baulny H, Su CH, Gilleron M, Lombes A, Abida H, Tzagoloff A, Riley L, Cooper ST, Mina K, Sivadorai P, Davis MR, Allcock RJ, Kresoje N, Laing NG, Thorburn DR, Slama A, Christodoulou J, Rustin P TITLE Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia. JOURNAL Am J Hum Genet 93:384-9 (2013) DOI:10.1016/j.ajhg.2013.06.015 /// ENTRY 1540v1 Variant NAME CYLD mutation GENE CYLD CYLD lysine 63 deubiquitinase [KO:K08601] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 605018 NETWORK nt06527 Necroptosis DISEASE H00827 Brooke-Spiegler syndrome H00828 Familial cylindromatosis H00829 Multiple familial trichoepithelioma H02342 Frontotemporal dementia and amyotrophic lateral sclerosis REFERENCE PMID:19462465 AUTHORS Blake PW, Toro JR TITLE Update of cylindromatosis gene (CYLD) mutations in Brooke-Spiegler syndrome: novel insights into the role of deubiquitination in cell signaling. JOURNAL Hum Mutat 30:1025-36 (2009) DOI:10.1002/humu.21024 REFERENCE PMID:16922728 AUTHORS Young AL, Kellermayer R, Szigeti R, Teszas A, Azmi S, Celebi JT TITLE CYLD mutations underlie Brooke-Spiegler, familial cylindromatosis, and multiple familial trichoepithelioma syndromes. JOURNAL Clin Genet 70:246-9 (2006) DOI:10.1111/j.1399-0004.2006.00667.x REFERENCE PMID:32185393 AUTHORS Dobson-Stone C, Hallupp M, Shahheydari H, Ragagnin AMG, Chatterton Z, Carew-Jones F, Shepherd CE, Stefen H, Paric E, Fath T, Thompson EM, Blumbergs P, Short CL, Field CD, Panegyres PK, Hecker J, Nicholson G, Shaw AD, Fullerton JM, Luty AA, Schofield PR, Brooks WS, Rajan N, Bennett MF, Bahlo M, Landers JE, Piguet O, Hodges JR, Halliday GM, Topp SD, Smith BN, Shaw CE, McCann E, Fifita JA, Williams KL, Atkin JD, Blair IP, Kwok JB TITLE CYLD is a causative gene for frontotemporal dementia - amyotrophic lateral sclerosis. JOURNAL Brain 143:783-799 (2020) DOI:10.1093/brain/awaa039 /// ENTRY 1548v1 Variant NAME CYP2A6 polymorphism for poor drug metabolism GENE CYP2A6 cytochrome P450 family 2 subfamily A member 6 [KO:K17683] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION *2 mutation L160H ClinVar: 16969 dbSNP: rs1801272 REFERENCE PMID:22271297 AUTHORS Kohli U, Pandharipande P, Muszkat M, Sofowora GG, Friedman EA, Scheinin M, Wood AJ, Ely EW, Tyndale RF, Choi L, Stein CM, Kurnik D TITLE CYP2A6 genetic variation and dexmedetomidine disposition. JOURNAL Eur J Clin Pharmacol 68:937-42 (2012) DOI:10.1007/s00228-011-1208-z REFERENCE PMID:11805739 AUTHORS Tyndale RF, Sellers EM TITLE Genetic variation in CYP2A6-mediated nicotine metabolism alters smoking behavior. JOURNAL Ther Drug Monit 24:163-71 (2002) DOI:10.1097/00007691-200202000-00026 /// ENTRY 1555v1 Variant NAME CYP2B6 polymorphism for poor drug metabolism GENE CYP2B6 cytochrome P450 family 2 subfamily B member 6 [KO:K17709] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION *6 mutation Q172H ClinVar: 29671 dbSNP: rs3745274 VARIATION *6 mutation K262R ClinVar: 120171 dbSNP: rs2279343 VARIATION *18 mutation I328T ClinVar: 225985 dbSNP: rs28399499 REFERENCE PMID:23856621 AUTHORS Martiny VY, Miteva MA TITLE Advances in molecular modeling of human cytochrome P450 polymorphism. JOURNAL J Mol Biol 425:3978-92 (2013) DOI:10.1016/j.jmb.2013.07.010 /// ENTRY 1557v1 Variant NAME CYP2C19 polymorphism for poor drug metabolism GENE CYP2C19 cytochrome P450 family 2 subfamily C member 19 [KO:K17721] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION *2 mutation P227= (synonymous codon) ClinVar: 16897 dbSNP: rs4244285 VARIATION *3 mutation W212* (stop codon) ClinVar: 16899 dbSNP: rs4986893 REFERENCE PMID:25974703 AUTHORS Hicks JK, Bishop JR, Sangkuhl K, Muller DJ, Ji Y, Leckband SG, Leeder JS, Graham RL, Chiulli DL, LLerena A, Skaar TC, Scott SA, Stingl JC, Klein TE, Caudle KE, Gaedigk A TITLE Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2D6 and CYP2C19 Genotypes and Dosing of Selective Serotonin Reuptake Inhibitors. JOURNAL Clin Pharmacol Ther 98:127-34 (2015) DOI:10.1002/cpt.147 REFERENCE PMID:24134832 AUTHORS Gharani N, Keller MA, Stack CB, Hodges LM, Schmidlen TJ, Lynch DE, Gordon ES, Christman MF TITLE The Coriell personalized medicine collaborative pharmacogenomics appraisal, evidence scoring and interpretation system. JOURNAL Genome Med 5:93 (2013) DOI:10.1186/gm499 /// ENTRY 1559v1 Variant NAME CYP2C9 polymorphism for poor drug metabolism GENE CYP2C9 cytochrome P450 family 2 subfamily C member 9 [KO:K17719] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION *2 mutation R144C ClinVar: 8409 dbSNP: rs1799853 VARIATION *3 mutation I359L ClinVar: 8408 dbSNP: rs1057910 REFERENCE PMID:24134832 AUTHORS Gharani N, Keller MA, Stack CB, Hodges LM, Schmidlen TJ, Lynch DE, Gordon ES, Christman MF TITLE The Coriell personalized medicine collaborative pharmacogenomics appraisal, evidence scoring and interpretation system. JOURNAL Genome Med 5:93 (2013) DOI:10.1186/gm499 REFERENCE PMID:20150829 AUTHORS Van Booven D, Marsh S, McLeod H, Carrillo MW, Sangkuhl K, Klein TE, Altman RB TITLE Cytochrome P450 2C9-CYP2C9. JOURNAL Pharmacogenet Genomics 20:277-81 (2010) DOI:10.1097/FPC.0b013e3283349e84 REFERENCE PMID:19514967 AUTHORS Zhou SF, Liu JP, Chowbay B TITLE Polymorphism of human cytochrome P450 enzymes and its clinical impact. JOURNAL Drug Metab Rev 41:89-295 (2009) DOI:10.1080/03602530902843483 /// ENTRY 155v1 Variant NAME ADRB3 mutation GENE ADRB3 adrenoceptor beta 3 [KO:K04143] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 109691 NETWORK nt06529 Thermogenesis DISEASE H02106 Genetic obesity REFERENCE PMID:34072007 AUTHORS Haji E, Al Mahri S, Aloraij Y, Malik SS, Mohammad S TITLE Functional Characterization of the Obesity-Linked Variant of the beta(3)-Adrenergic Receptor. JOURNAL Int J Mol Sci 22:ijms22115721 (2021) DOI:10.3390/ijms22115721 /// ENTRY 1565v1 Variant NAME CYP2D6 polymorphism for poor drug metabolism GENE CYP2D6 cytochrome P450 family 2 subfamily D member 6 [KO:K17712] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION *3 dbSNP: rs35742686 VARIATION *4 G>A at splice site ClinVar: 16889 dbSNP: rs3892097 VARIATION *5 deletion ClinVar: 16890 VARIATION *6 dbSNP: rs5030655 REFERENCE PMID:14618296 AUTHORS Zanger UM, Raimundo S, Eichelbaum M TITLE Cytochrome P450 2D6: overview and update on pharmacology, genetics, biochemistry. JOURNAL Naunyn Schmiedebergs Arch Pharmacol 369:23-37 (2004) DOI:10.1007/s00210-003-0832-2 REFERENCE PMID:25974703 AUTHORS Hicks JK, Bishop JR, Sangkuhl K, Muller DJ, Ji Y, Leckband SG, Leeder JS, Graham RL, Chiulli DL, LLerena A, Skaar TC, Scott SA, Stingl JC, Klein TE, Caudle KE, Gaedigk A TITLE Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for CYP2D6 and CYP2C19 Genotypes and Dosing of Selective Serotonin Reuptake Inhibitors. JOURNAL Clin Pharmacol Ther 98:127-34 (2015) DOI:10.1002/cpt.147 REFERENCE PMID:19817501 AUTHORS Zhou SF TITLE Polymorphism of human cytochrome P450 2D6 and its clinical significance: Part I. JOURNAL Clin Pharmacokinet 48:689-723 (2009) DOI:10.2165/11318030-000000000-00000 REFERENCE PMID:16968950 AUTHORS Gardiner SJ, Begg EJ TITLE Pharmacogenetics, drug-metabolizing enzymes, and clinical practice. JOURNAL Pharmacol Rev 58:521-90 (2006) DOI:10.1124/pr.58.3.6 /// ENTRY 157570v1 Variant NAME ESCO2 mutation GENE ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 [KO:K11268] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 609353 NETWORK nt06512 Chromosome cohesion and segregation DISEASE H00572 Roberts-SC phocomelia syndrome H02581 Juberg-Hayward syndrome REFERENCE PMID:15821733 AUTHORS Vega H, Waisfisz Q, Gordillo M, Sakai N, Yanagihara I, Yamada M, van Gosliga D, Kayserili H, Xu C, Ozono K, Jabs EW, Inui K, Joenje H TITLE Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion. JOURNAL Nat Genet 37:468-70 (2005) DOI:10.1038/ng1548 REFERENCE PMID:32977150 AUTHORS Kantaputra PN, Dejkhamron P, Tongsima S, Ngamphiw C, Intachai W, Ngiwsara L, Sawangareetrakul P, Svasti J, Olsen B, Cairns JRK, Bumroongkit K TITLE Juberg-Hayward syndrome and Roberts syndrome are allelic, caused by mutations in ESCO2. JOURNAL Arch Oral Biol 119:104918 (2020) DOI:10.1016/j.archoralbio.2020.104918 /// ENTRY 1577v1 Variant NAME CYP3A5 polymorphism for poor drug metabolism GENE CYP3A5 cytochrome P450 family 3 subfamily A member 5 [KO:K17690] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION *3 G>A splicing defect ClinVar: 226021 dbSNP: rs776746 REFERENCE PMID:25801146 AUTHORS Birdwell KA, Decker B, Barbarino JM, Peterson JF, Stein CM, Sadee W, Wang D, Vinks AA, He Y, Swen JJ, Leeder JS, van Schaik R, Thummel KE, Klein TE, Caudle KE, MacPhee IA TITLE Clinical Pharmacogenetics Implementation Consortium (CPIC) Guidelines for CYP3A5 Genotype and Tacrolimus Dosing. JOURNAL Clin Pharmacol Ther 98:19-24 (2015) DOI:10.1002/cpt.113 /// ENTRY 1583v1 Variant NAME CYP11A1 deficiency GENE CYP11A1 cytochrome P450 family 11 subfamily A member 1 [KO:K00498] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 118485 NETWORK nt06019 Steroid hormone biosynthesis DISEASE H02314 Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete REFERENCE PMID:16705068 AUTHORS al Kandari H, Katsumata N, Alexander S, Rasoul MA TITLE Homozygous mutation of P450 side-chain cleavage enzyme gene (CYP11A1) in 46, XY patient with adrenal insufficiency, complete sex reversal, and agenesis of corpus callosum. JOURNAL J Clin Endocrinol Metab 91:2821-6 (2006) DOI:10.1210/jc.2005-2230 /// ENTRY 1584v1 Variant NAME CYP11B1 deficiency GENE CYP11B1 cytochrome P450 family 11 subfamily B member 1 [KO:K00497] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 610613 NETWORK nt06019 Steroid hormone biosynthesis DISEASE H00216 Congenital adrenal hyperplasia REFERENCE PMID:2022736 AUTHORS White PC, Dupont J, New MI, Leiberman E, Hochberg Z, Rosler A TITLE A mutation in CYP11B1 (Arg-448----His) associated with steroid 11 beta-hydroxylase deficiency in Jews of Moroccan origin. JOURNAL J Clin Invest 87:1664-7 (1991) DOI:10.1172/JCI115182 /// ENTRY 1585v1 Variant NAME CYP11B1-CYP11B2 fusion GENE CYP11B2 cytochrome P450 family 11 subfamily B member 2 [KO:K07433] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION chimeric CYP11B1/CYP11B2 gene NETWORK nt06310 CRH-ACTH-cortisol signaling DISEASE H00602 Glucocorticoid-remediable aldosteronism (GRA) REFERENCE PMID:14667264 AUTHORS McMahon GT, Dluhy RG TITLE Glucocorticoid-remediable aldosteronism. JOURNAL Cardiol Rev 12:44-8 (2004) DOI:10.1097/01.crd.0000096417.42861.ce REFERENCE PMID:1731223 AUTHORS Lifton RP, Dluhy RG, Powers M, Rich GM, Cook S, Ulick S, Lalouel JM TITLE A chimaeric 11 beta-hydroxylase/aldosterone synthase gene causes glucocorticoid-remediable aldosteronism and human hypertension. JOURNAL Nature 355:262-5 (1992) DOI:10.1038/355262a0 REFERENCE PMID:25667376 AUTHORS Vaidya A, Hamrahian AH, Auchus RJ TITLE Genetics of primary aldosteronism. JOURNAL Endocr Pract 21:400-5 (2015) DOI:10.4158/EP14512.RA REFERENCE PMID:11740142 AUTHORS Ferrari P, Bianchetti M, Frey FJ TITLE Juvenile hypertension, the role of genetically altered steroid metabolism. JOURNAL Horm Res 55:213-23 (2001) DOI:10.1159/000049999 /// ENTRY 1585v2 Variant NAME CYP11B2 deficiency GENE CYP11B2 cytochrome P450 family 11 subfamily B member 2 [KO:K07433] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 124080 NETWORK nt06019 Steroid hormone biosynthesis DISEASE H00258 Aldosterone synthase deficiency REFERENCE PMID:830445 AUTHORS Cohen T, Theodor R, Rosler A TITLE Selective hypoaldosteronism in Iranian Jews: An autosomal recessive trait. JOURNAL Clin Genet 11:25-30 (1977) DOI:10.1111/j.1399-0004.1977.tb01273.x REFERENCE PMID:8439335 AUTHORS Mitsuuchi Y, Kawamoto T, Miyahara K, Ulick S, Morton DH, Naiki Y, Kuribayashi I, Toda K, Hara T, Orii T, et al. TITLE Congenitally defective aldosterone biosynthesis in humans: inactivation of the P-450C18 gene (CYP11B2) due to nucleotide deletion in CMO I deficient patients. JOURNAL Biochem Biophys Res Commun 190:864-9 (1993) DOI:10.1006/bbrc.1993.1128 /// ENTRY 1586v1 Variant NAME CYP17A1 deficiency GENE CYP17A1 cytochrome P450 family 17 subfamily A member 1 [KO:K00512] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 609300 NETWORK nt06019 Steroid hormone biosynthesis DISEASE H00216 Congenital adrenal hyperplasia REFERENCE PMID:9326943 AUTHORS Geller DH, Auchus RJ, Mendonca BB, Miller WL TITLE The genetic and functional basis of isolated 17,20-lyase deficiency. JOURNAL Nat Genet 17:201-5 (1997) DOI:10.1038/ng1097-201 /// ENTRY 1588v1 Variant NAME CYP19A1 (aromatase) deficiency GENE CYP19A1 cytochrome P450 family 19 subfamily A member 1 [KO:K07434] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 107910 NETWORK nt06019 Steroid hormone biosynthesis DISEASE H02020 Aromatase deficiency REFERENCE PMID:34538723 AUTHORS Fukami M, Ogata T TITLE Congenital disorders of estrogen biosynthesis and action. JOURNAL Best Pract Res Clin Endocrinol Metab 36:101580 (2022) DOI:10.1016/j.beem.2021.101580 /// ENTRY 1588v2 Variant NAME CYP19A1 (aromatase) gain-of-function variant GENE CYP19A1 cytochrome P450 family 19 subfamily A member 1 [KO:K07434] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 107910 NETWORK nt06019 Steroid hormone biosynthesis DISEASE H00794 Aromatase excess syndrome REFERENCE PMID:34538723 AUTHORS Fukami M, Ogata T TITLE Congenital disorders of estrogen biosynthesis and action. JOURNAL Best Pract Res Clin Endocrinol Metab 36:101580 (2022) DOI:10.1016/j.beem.2021.101580 /// ENTRY 1589v1 Variant NAME CYP21A2 deficiency GENE CYP21A2 cytochrome P450 family 21 subfamily A member 2 [KO:K00513] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 613815 NETWORK nt06019 Steroid hormone biosynthesis DISEASE H00216 Congenital adrenal hyperplasia REFERENCE PMID:23359698 AUTHORS New MI, Abraham M, Gonzalez B, Dumic M, Razzaghy-Azar M, Chitayat D, Sun L, Zaidi M, Wilson RC, Yuen T TITLE Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency. JOURNAL Proc Natl Acad Sci U S A 110:2611-6 (2013) DOI:10.1073/pnas.1300057110 /// ENTRY 1593v1 Variant NAME CYP27A1 deficiency GENE CYP27A1 cytochrome P450 family 27 subfamily A member 1 [KO:K00488] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 606530 NETWORK nt06022 Bile acid biosynthesis DISEASE H00151 Cerebrotendinous xanthomatosis REFERENCE PMID:8514861 AUTHORS Leitersdorf E, Reshef A, Meiner V, Levitzki R, Schwartz SP, Dann EJ, Berkman N, Cali JJ, Klapholz L, Berginer VM TITLE Frameshift and splice-junction mutations in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis in Jews or Moroccan origin. JOURNAL J Clin Invest 91:2488-96 (1993) DOI:10.1172/JCI116484 /// ENTRY 1594v1 Variant NAME CYP27B1 deficiency GENE CYP27B1 cytochrome P450 family 27 subfamily B member 1 [KO:K07438] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 609506 NETWORK nt06034 Cholesterol biosynthesis DISEASE H01143 Vitamin D-dependent rickets REFERENCE PMID:15972816 AUTHORS Yamamoto K, Uchida E, Urushino N, Sakaki T, Kagawa N, Sawada N, Kamakura M, Kato S, Inouye K, Yamada S TITLE Identification of the amino acid residue of CYP27B1 responsible for binding of 25-hydroxyvitamin D3 whose mutation causes vitamin D-dependent rickets type 1. JOURNAL J Biol Chem 280:30511-6 (2005) DOI:10.1074/jbc.M505244200 /// ENTRY 1600v1 Variant NAME DAB1 overexpression GENE DAB1 DAB adaptor protein 1 [KO:K20054] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 603448 NETWORK nt06462 Spinocerebellar ataxia DISEASE H00063 Spinocerebellar ataxia (SCA) REFERENCE PMID:29939198 AUTHORS Corral-Juan M, Serrano-Munuera C, Rabano A, Cota-Gonzalez D, Segarra-Roca A, Ispierto L, Cano-Orgaz AT, Adarmes AD, Mendez-Del-Barrio C, Jesus S, Mir P, Volpini V, Alvarez-Ramo R, Sanchez I, Matilla-Duenas A TITLE Clinical, genetic and neuropathological characterization of spinocerebellar ataxia type 37. JOURNAL Brain 141:1981-1997 (2018) DOI:10.1093/brain/awy137 REFERENCE PMID:28686858 AUTHORS Seixas AI, Loureiro JR, Costa C, Ordonez-Ugalde A, Marcelino H, Oliveira CL, Loureiro JL, Dhingra A, Brandao E, Cruz VT, Timoteo A, Quintans B, Rouleau GA, Rizzu P, Carracedo A, Bessa J, Heutink P, Sequeiros J, Sobrido MJ, Coutinho P, Silveira I TITLE A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia. JOURNAL Am J Hum Genet 101:87-103 (2017) DOI:10.1016/j.ajhg.2017.06.007 /// ENTRY 1604v1 Variant NAME CD55 mutation GENE CD55 CD55 molecule (Cromer blood group) [KO:K04006] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 125240 NETWORK nt06513 Complement cascade DISEASE H00106 Complement regulatory protein defects REFERENCE PMID:28657829 AUTHORS Ozen A, Comrie WA, Ardy RC, Dominguez Conde C, Dalgic B, Beser OF, Morawski AR, Karakoc-Aydiner E, Tutar E, Baris S, Ozcay F, Serwas NK, Zhang Y, Matthews HF, Pittaluga S, Folio LR, Unlusoy Aksu A, McElwee JJ, Krolo A, Kiykim A, Baris Z, Gulsan M, Ogulur I, Snapper SB, Houwen RHJ, Leavis HL, Ertem D, Kain R, Sari S, Erkan T, Su HC, Boztug K, Lenardo MJ TITLE CD55 Deficiency, Early-Onset Protein-Losing Enteropathy, and Thrombosis. JOURNAL N Engl J Med 377:52-61 (2017) DOI:10.1056/NEJMoa1615887 /// ENTRY 161742v1 Variant NAME SPRED1 mutation GENE SPRED1 sprouty related EVH1 domain containing 1 [KO:K04703] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 609291 NETWORK nt06526 MAPK signaling DISEASE H01986 Legius syndrome REFERENCE PMID:34103645 AUTHORS Pudewell S, Wittich C, Kazemein Jasemi NS, Bazgir F, Ahmadian MR TITLE Accessory proteins of the RAS-MAPK pathway: moving from the side line to the front line. JOURNAL Commun Biol 4:696 (2021) DOI:10.1038/s42003-021-02149-3 REFERENCE PMID:34175492 AUTHORS Riller Q, Rieux-Laucat F TITLE RASopathies: From germline mutations to somatic and multigenic diseases. JOURNAL Biomed J 44:422-432 (2021) DOI:10.1016/j.bj.2021.06.004 /// ENTRY 1621v1 Variant NAME DBH deficiency GENE DBH dopamine beta-hydroxylase [KO:K00503] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 609312 NETWORK nt06028 Dopamine and serotonin metabolism DISEASE H01005 Dopamine beta-hydroxylase deficiency REFERENCE PMID:11857564 AUTHORS Kim CH, Zabetian CP, Cubells JF, Cho S, Biaggioni I, Cohen BM, Robertson D, Kim KS TITLE Mutations in the dopamine beta-hydroxylase gene are associated with human norepinephrine deficiency. JOURNAL Am J Med Genet 108:140-7 (2002) DOI:10.1002/ajmg.10196 /// ENTRY 162417v1 Variant NAME NAGS deficiency GENE NAGS N-acetylglutamate synthase [KO:K11067] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 608300 NETWORK nt06010 Urea cycle DISEASE H01032 N-acetylglutamate synthase deficiency H01398 Primary hyperammonemia (Urea cycle disorders) REFERENCE PMID:12754705 AUTHORS Haberle J, Schmidt E, Pauli S, Kreuder JG, Plecko B, Galler A, Wermuth B, Harms E, Koch HG TITLE Mutation analysis in patients with N-acetylglutamate synthase deficiency. JOURNAL Hum Mutat 21:593-7 (2003) DOI:10.1002/humu.10216 /// ENTRY 1629v1 Variant NAME DBT deficiency GENE DBT dihydrolipoamide branched chain transacylase E2 [KO:K09699] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 605862 NETWORK nt06024 Valine, leucine and isoleucine degradation DISEASE H00172 Maple syrup urine disease REFERENCE PMID:9621512 AUTHORS Tsuruta M, Mitsubuchi H, Mardy S, Miura Y, Hayashida Y, Kinugasa A, Ishitsu T, Matsuda I, Indo Y TITLE Molecular basis of intermittent maple syrup urine disease: novel mutations in the E2 gene of the branched-chain alpha-keto acid dehydrogenase complex. JOURNAL J Hum Genet 43:91-100 (1998) DOI:10.1007/s100380050047 /// ENTRY 1630v1 Variant NAME DCC loss GENE DCC DCC netrin 1 receptor [KO:K06765] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION Allelic loss on 18q21.3 NETWORK nt06231 Apoptosis nt06260 Colorectal cancer DISEASE H00020 Colorectal cancer REFERENCE PMID:11477132 AUTHORS Houlston RS. TITLE What we could do now: molecular pathology of colorectal cancer. JOURNAL Mol Pathol 54:206-14 (2001) DOI:10.1136/mp.54.4.206 REFERENCE PMID:22920895 AUTHORS Ko SY, Dass CR, Nurgali K TITLE Netrin-1 in the developing enteric nervous system and colorectal cancer. JOURNAL Trends Mol Med 18:544-54 (2012) DOI:10.1016/j.molmed.2012.07.001 REFERENCE PMID:15956977 AUTHORS Mehlen P, Llambi F TITLE Role of netrin-1 and netrin-1 dependence receptors in colorectal cancers. JOURNAL Br J Cancer 93:1-6 (2005) DOI:10.1038/sj.bjc.6602656 REFERENCE PMID:15573119 AUTHORS Arakawa H. TITLE Netrin-1 and its receptors in tumorigenesis. JOURNAL Nat Rev Cancer 4:978-87 (2004) DOI:10.1038/nrc1504 /// ENTRY 1636v1 Variant NAME ACE mutation GENE ACE angiotensin I converting enzyme [KO:K01283] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 106180 NETWORK nt06316 Renin-angiotensin-aldosterone signaling DISEASE H00575 Renal tubular dysgenesis REFERENCE PMID:16116425 AUTHORS Gribouval O, Gonzales M, Neuhaus T, Aziza J, Bieth E, Laurent N, Bouton JM, Feuillet F, Makni S, Ben Amar H, Laube G, Delezoide AL, Bouvier R, Dijoud F, Ollagnon-Roman E, Roume J, Joubert M, Antignac C, Gubler MC TITLE Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis. JOURNAL Nat Genet 37:964-8 (2005) DOI:10.1038/ng1623 /// ENTRY 1638v1 Variant NAME DCT deficiency GENE DCT dopachrome tautomerase [KO:K01827] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 191275 NETWORK nt06028 Dopamine and serotonin metabolism DISEASE H00168 Oculocutaneous albinism REFERENCE PMID:33100333 AUTHORS Pennamen P, Tingaud-Sequeira A, Gazova I, Keighren M, McKie L, Marlin S, Gherbi Halem S, Kaplan J, Delevoye C, Lacombe D, Plaisant C, Michaud V, Lasseaux E, Javerzat S, Jackson I, Arveiler B TITLE Dopachrome tautomerase variants in patients with oculocutaneous albinism. JOURNAL Genet Med 23:479-487 (2021) DOI:10.1038/s41436-020-00997-8 /// ENTRY 1639v1 Variant NAME DCTN1 mutaion GENE DCTN1 dynactin subunit 1 [KO:K04648] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 601143 NETWORK nt06464 Amyotrophic lateral sclerosis nt06466 Pathways of neurodegeneration nt06515 Regulation of kinetochore-microtubule interactions DISEASE H00058 Amyotrophic lateral sclerosis (ALS) H00856 Distal hereditary motor neuropathies H00879 Perry syndrome REFERENCE PMID:23143281 AUTHORS Stockmann M, Meyer-Ohlendorf M, Achberger K, Putz S, Demestre M, Yin H, Hendrich C, Linta L, Heinrich J, Brunner C, Proepper C, Kuh GF, Baumann B, Langer T, Schwalenstocker B, Braunstein KE, von Arnim C, Schneuwly S, Meyer T, Wong PC, Boeckers TM, Ludolph AC, Liebau S TITLE The dynactin p150 subunit: cell biology studies of sequence changes found in ALS/MND and Parkinsonian syndromes. JOURNAL J Neural Transm (Vienna) 120:785-98 (2013) DOI:10.1007/s00702-012-0910-z REFERENCE PMID:16505168 AUTHORS Levy JR, Sumner CJ, Caviston JP, Tokito MK, Ranganathan S, Ligon LA, Wallace KE, LaMonte BH, Harmison GG, Puls I, Fischbeck KH, Holzbaur EL TITLE A motor neuron disease-associated mutation in p150Glued perturbs dynactin function and induces protein aggregation. JOURNAL J Cell Biol 172:733-45 (2006) DOI:10.1083/jcb.200511068 REFERENCE PMID:12627231 AUTHORS Puls I, Jonnakuty C, LaMonte BH, Holzbaur EL, Tokito M, Mann E, Floeter MK, Bidus K, Drayna D, Oh SJ, Brown RH Jr, Ludlow CL, Fischbeck KH TITLE Mutant dynactin in motor neuron disease. JOURNAL Nat Genet 33:455-6 (2003) DOI:10.1038/ng1123 /// ENTRY 1642v1 Variant NAME DDB1 mutation GENE DDB1 damage specific DNA binding protein 1 [KO:K10610] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 600045 NETWORK nt06502 Nucleotide excision repair DISEASE H02560 White-Kernohan syndrome REFERENCE PMID:33743206 AUTHORS White SM, Bhoj E, Nellaker C, Lachmeijer AMA, Marshall AE, Boycott KM, Li D, Smith W, Hartley T, McBride A, Ernst ME, May AS, Wieczorek D, Abou Jamra R, Koch-Hogrebe M, Ounap K, Pajusalu S, van Gassen KLI, Sadedin S, Ellingwood S, Tan TY, Christodoulou J, Barea J, Lockhart PJ, Nezarati MM, Kernohan KD TITLE A DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome. JOURNAL Am J Hum Genet 108:749-756 (2021) DOI:10.1016/j.ajhg.2021.03.007 /// ENTRY 1643v1 Variant NAME DDB2 mutation GENE DDB2 damage specific DNA binding protein 2 [KO:K10140] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 600811 NETWORK nt06502 Nucleotide excision repair DISEASE H01428 Xeroderma pigmentosum REFERENCE PMID:12812979 AUTHORS Rapic-Otrin V, Navazza V, Nardo T, Botta E, McLenigan M, Bisi DC, Levine AS, Stefanini M TITLE True XP group E patients have a defective UV-damaged DNA binding protein complex and mutations in DDB2 which reveal the functional domains of its p48 product. JOURNAL Hum Mol Genet 12:1507-22 (2003) DOI:10.1093/hmg/ddg174 /// ENTRY 1644v1 Variant NAME DDC deficiency GENE DDC dopa decarboxylase [KO:K01593] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 107930 NETWORK nt06028 Dopamine and serotonin metabolism DISEASE H01161 Aromatic L-amino acid decarboxylase deficiency DRUG_TARGET Eladocagene exuparvovec: D12407 REFERENCE PMID:31104889 AUTHORS Montioli R, Battini R, Paiardini A, Tolve M, Bertoldi M, Carducci C, Leuzzi V, Borri Voltattorni C TITLE A novel compound heterozygous genotype associated with aromatic amino acid decarboxylase deficiency: Clinical aspects and biochemical studies. JOURNAL Mol Genet Metab 127:132-137 (2019) DOI:10.1016/j.ymgme.2019.05.004 /// ENTRY 1649v1 Variant NAME FUS-DDIT3 fusion GENE DDIT3 DNA damage inducible transcript 3 [KO:K04452] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION translocation t(12;16)(q13;p11) COSF: 300 297 302 NETWORK nt06240 Transcription DISEASE H00049 Myxoid liposarcoma REFERENCE PMID:12951587 AUTHORS Helman LJ, Meltzer P. TITLE Mechanisms of sarcoma development. JOURNAL Nat Rev Cancer 3:685-94 (2003) DOI:10.1038/nrc1168 REFERENCE PMID:19734027 AUTHORS Thway K TITLE Pathology of soft tissue sarcomas. JOURNAL Clin Oncol (R Coll Radiol) 21:695-705 (2009) DOI:10.1016/j.clon.2009.07.016 /// ENTRY 1650v1 Variant NAME DDOST deficiency GENE DDOST dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit [KO:K12670] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 602202 NETWORK nt06015 N-Glycan biosynthesis DISEASE H00118 Congenital disorders of glycosylation type I REFERENCE PMID:22305527 AUTHORS Jones MA, Ng BG, Bhide S, Chin E, Rhodenizer D, He P, Losfeld ME, He M, Raymond K, Berry G, Freeze HH, Hegde MR TITLE DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation. JOURNAL Am J Hum Genet 90:363-8 (2012) DOI:10.1016/j.ajhg.2011.12.024 /// ENTRY 165918v1 Variant NAME RNF168 mutation GENE RNF168 ring finger protein 168 [KO:K20779] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 612688 NETWORK nt06506 Double-strand break repair DISEASE H00962 RIDDLE syndrome REFERENCE PMID:21394101 AUTHORS Devgan SS, Sanal O, Doil C, Nakamura K, Nahas SA, Pettijohn K, Bartek J, Lukas C, Lukas J, Gatti RA TITLE Homozygous deficiency of ubiquitin-ligase ring-finger protein RNF168 mimics the radiosensitivity syndrome of ataxia-telangiectasia. JOURNAL Cell Death Differ 18:1500-6 (2011) DOI:10.1038/cdd.2011.18 /// ENTRY 1663v1 Variant NAME DDX11 mutation GENE DDX11 DEAD/H-box helicase 11 [KO:K11273] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 601150 NETWORK nt06512 Chromosome cohesion and segregation DISEASE H00914 Warsaw breakage syndrome REFERENCE PMID:20137776 AUTHORS van der Lelij P, Chrzanowska KH, Godthelp BC, Rooimans MA, Oostra AB, Stumm M, Zdzienicka MZ, Joenje H, de Winter JP TITLE Warsaw breakage syndrome, a cohesinopathy associated with mutations in the XPD helicase family member DDX11/ChlR1. JOURNAL Am J Hum Genet 86:262-6 (2010) DOI:10.1016/j.ajhg.2010.01.008 /// ENTRY 1675v1 Variant NAME CFD mutation GENE CFD complement factor D [KO:K01334] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 134350 NETWORK nt06513 Complement cascade REFERENCE PMID:11457876 AUTHORS Biesma DH, Hannema AJ, van Velzen-Blad H, Mulder L, van Zwieten R, Kluijt I, Roos D TITLE A family with complement factor D deficiency. JOURNAL J Clin Invest 108:233-40 (2001) DOI:10.1172/JCI12023 /// ENTRY 171023v1 Variant NAME ASXL1 mutation GENE ASXL1 ASXL transcriptional regulator 1 [KO:K11471] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 612990 NETWORK nt06523 Epigenetic regulation by Polycomb complexes DISEASE H01481 Myelodysplastic syndrome H02047 Bohring-Opitz syndrome REFERENCE PMID:21706002 AUTHORS Hoischen A, van Bon BW, Rodriguez-Santiago B, Gilissen C, Vissers LE, de Vries P, Janssen I, van Lier B, Hastings R, Smithson SF, Newbury-Ecob R, Kjaergaard S, Goodship J, McGowan R, Bartholdi D, Rauch A, Peippo M, Cobben JM, Wieczorek D, Gillessen-Kaesbach G, Veltman JA, Brunner HG, de Vries BB TITLE De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome. JOURNAL Nat Genet 43:729-31 (2011) DOI:10.1038/ng.868 REFERENCE PMID:19388938 AUTHORS Gelsi-Boyer V, Trouplin V, Adelaide J, Bonansea J, Cervera N, Carbuccia N, Lagarde A, Prebet T, Nezri M, Sainty D, Olschwang S, Xerri L, Chaffanet M, Mozziconacci MJ, Vey N, Birnbaum D TITLE Mutations of polycomb-associated gene ASXL1 in myelodysplastic syndromes and chronic myelomonocytic leukaemia. JOURNAL Br J Haematol 145:788-800 (2009) DOI:10.1111/j.1365-2141.2009.07697.x /// ENTRY 1717v1 Variant NAME DHCR7 deficiency GENE DHCR7 7-dehydrocholesterol reductase [KO:K00213] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 602858 NETWORK nt06034 Cholesterol biosynthesis DISEASE H00161 Smith-Lemli-Opitz syndrome REFERENCE PMID:9634533 AUTHORS Wassif CA, Maslen C, Kachilele-Linjewile S, Lin D, Linck LM, Connor WE, Steiner RD, Porter FD TITLE Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome. JOURNAL Am J Hum Genet 63:55-62 (1998) DOI:10.1086/301936 /// ENTRY 1718v1 Variant NAME DHCR24 deficiency GENE DHCR24 24-dehydrocholesterol reductase [KO:K09828] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 606418 NETWORK nt06034 Cholesterol biosynthesis DISEASE H00617 Desmosterolosis REFERENCE PMID:11519011 AUTHORS Waterham HR, Koster J, Romeijn GJ, Hennekam RC, Vreken P, Andersson HC, FitzPatrick DR, Kelley RI, Wanders RJ TITLE Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis. JOURNAL Am J Hum Genet 69:685-94 (2001) DOI:10.1086/323473 /// ENTRY 1719v1 Variant NAME DHFR deficiency GENE DHFR dihydrofolate reductase [KO:K00287] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 126060 NETWORK nt06037 Histidine metabolism DISEASE H01197 Dihydrofolate reductase deficiency REFERENCE PMID:21310276 AUTHORS Banka S, Blom HJ, Walter J, Aziz M, Urquhart J, Clouthier CM, Rice GI, de Brouwer AP, Hilton E, Vassallo G, Will A, Smith DE, Smulders YM, Wevers RA, Steinfeld R, Heales S, Crow YJ, Pelletier JN, Jones S, Newman WG TITLE Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency. JOURNAL Am J Hum Genet 88:216-25 (2011) DOI:10.1016/j.ajhg.2011.01.004 /// ENTRY 1736v1 Variant NAME DKC1 mutation GENE DKC1 dyskerin pseudouridine synthase 1 [KO:K11131] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 300126 NETWORK nt06510 Telomere length regulation DISEASE H00507 Dyskeratosis congenita REFERENCE PMID:15842668 AUTHORS Kanegane H, Kasahara Y, Okamura J, Hongo T, Tanaka R, Nomura K, Kojima S, Miyawaki T TITLE Identification of DKC1 gene mutations in Japanese patients with X-linked dyskeratosis congenita. JOURNAL Br J Haematol 129:432-4 (2005) DOI:10.1111/j.1365-2141.2005.05473.x REFERENCE PMID:10583221 AUTHORS Knight SW, Heiss NS, Vulliamy TJ, Aalfs CM, McMahon C, Richmond P, Jones A, Hennekam RC, Poustka A, Mason PJ, Dokal I TITLE Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1. JOURNAL Br J Haematol 107:335-9 (1999) DOI:10.1046/j.1365-2141.1999.01690.x /// ENTRY 1737v1 Variant NAME DLAT deficiency GENE DLAT dihydrolipoamide S-acetyltransferase [KO:K00627] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 608770 NETWORK nt06031 Citrate cycle and pyruvate metabolism DISEASE H01999 Pyruvate dehydrogenase E2 deficiency REFERENCE PMID:16049940 AUTHORS Head RA, Brown RM, Zolkipli Z, Shahdadpuri R, King MD, Clayton PT, Brown GK TITLE Clinical and genetic spectrum of pyruvate dehydrogenase deficiency: dihydrolipoamide acetyltransferase (E2) deficiency. JOURNAL Ann Neurol 58:234-41 (2005) DOI:10.1002/ana.20550 /// ENTRY 1738v1 Variant NAME DLD deficiency GENE DLD dihydrolipoamide dehydrogenase [KO:K00382] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 238331 NETWORK nt06024 Valine, leucine and isoleucine degradation nt06031 Citrate cycle and pyruvate metabolism nt06032 Lipoic acid metabolism DISEASE H02000 Dihydrolipoamide dehydrogenase deficiency REFERENCE PMID:8506365 AUTHORS Liu TC, Kim H, Arizmendi C, Kitano A, Patel MS TITLE Identification of two missense mutations in a dihydrolipoamide dehydrogenase-deficient patient. JOURNAL Proc Natl Acad Sci U S A 90:5186-90 (1993) DOI:10.1073/pnas.90.11.5186 /// ENTRY 1756v1 Variant NAME DMD mutation GENE DMD dystrophin [KO:K10366] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations amenable to exon 51 skipping VARIATION mutations amenable to exon 53 skipping VARIATION mutations amenable to exon 45 skipping DISEASE H01963 Duchenne muscular dystrophy DRUG_TARGET Casimersen: D11988 Delandistrogene moxeparvovec: D12633 Eteplirsen: D09900 Golodirsen: D11707 Viltolarsen: D11528 REFERENCE PMID:28280301 AUTHORS Lim KR, Maruyama R, Yokota T TITLE Eteplirsen in the treatment of Duchenne muscular dystrophy. JOURNAL Drug Des Devel Ther 11:533-545 (2017) DOI:10.2147/DDDT.S97635 REFERENCE PMID:30171533 AUTHORS Rodrigues M, Yokota T TITLE An Overview of Recent Advances and Clinical Applications of Exon Skipping and Splice Modulation for Muscular Dystrophy and Various Genetic Diseases. JOURNAL Methods Mol Biol 1828:31-55 (2018) DOI:10.1007/978-1-4939-8651-4_2 /// ENTRY 1763v1 Variant NAME DNA2 mutation GENE DNA2 DNA replication helicase/nuclease 2 [KO:K10742] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 601810 NETWORK nt06506 Double-strand break repair nt06509 DNA replication DISEASE H00992 Seckel syndrome H01118 Progressive external ophthalmoplegia REFERENCE PMID:23352259 AUTHORS Ronchi D, Di Fonzo A, Lin W, Bordoni A, Liu C, Fassone E, Pagliarani S, Rizzuti M, Zheng L, Filosto M, Ferro MT, Ranieri M, Magri F, Peverelli L, Li H, Yuan YC, Corti S, Sciacco M, Moggio M, Bresolin N, Shen B, Comi GP TITLE Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability. JOURNAL Am J Hum Genet 92:293-300 (2013) DOI:10.1016/j.ajhg.2012.12.014 REFERENCE PMID:31754720 AUTHORS Zheng L, Meng Y, Campbell JL, Shen B TITLE Multiple roles of DNA2 nuclease/helicase in DNA metabolism, genome stability and human diseases. JOURNAL Nucleic Acids Res 48:16-35 (2020) DOI:10.1093/nar/gkz1101 /// ENTRY 1773v1 Variant NAME DNASE1 mutation GENE DNASE1 deoxyribonuclease 1 [KO:K11994] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 125505 NETWORK nt06520 CGAS-STING signaling DISEASE H00080 Systemic lupus erythematosus REFERENCE PMID:31358977 AUTHORS Motwani M, Pesiridis S, Fitzgerald KA TITLE DNA sensing by the cGAS-STING pathway in health and disease. JOURNAL Nat Rev Genet 20:657-674 (2019) DOI:10.1038/s41576-019-0151-1 /// ENTRY 1776v1 Variant NAME DNASE1L3 mutation GENE DNASE1L3 deoxyribonuclease 1 like 3 [KO:K11995] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 602244 NETWORK nt06520 CGAS-STING signaling DISEASE H00080 Systemic lupus erythematosus REFERENCE PMID:31358977 AUTHORS Motwani M, Pesiridis S, Fitzgerald KA TITLE DNA sensing by the cGAS-STING pathway in health and disease. JOURNAL Nat Rev Genet 20:657-674 (2019) DOI:10.1038/s41576-019-0151-1 /// ENTRY 1777v1 Variant NAME DNASE2 mutation GENE DNASE2 deoxyribonuclease 2, lysosomal [KO:K01158] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 126350 NETWORK nt06520 CGAS-STING signaling DISEASE H02608 Autoinflammatory-pancytopenia syndrome REFERENCE PMID:31358977 AUTHORS Motwani M, Pesiridis S, Fitzgerald KA TITLE DNA sensing by the cGAS-STING pathway in health and disease. JOURNAL Nat Rev Genet 20:657-674 (2019) DOI:10.1038/s41576-019-0151-1 /// ENTRY 1778v1 Variant NAME DYNC1H1 mutation GENE DYNC1H1 dynein cytoplasmic 1 heavy chain 1 [KO:K10413] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 600112 NETWORK nt06515 Regulation of kinetochore-microtubule interactions DISEASE H00264 Charcot-Marie-Tooth disease H00455 Spinal muscular atrophy H00773 Autosomal dominant intellectual developmental disorder REFERENCE PMID:21820100 AUTHORS Weedon MN, Hastings R, Caswell R, Xie W, Paszkiewicz K, Antoniadi T, Williams M, King C, Greenhalgh L, Newbury-Ecob R, Ellard S TITLE Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease. JOURNAL Am J Hum Genet 89:308-12 (2011) DOI:10.1016/j.ajhg.2011.07.002 REFERENCE PMID:22368300 AUTHORS Willemsen MH, Vissers LE, Willemsen MA, van Bon BW, Kroes T, de Ligt J, de Vries BB, Schoots J, Lugtenberg D, Hamel BC, van Bokhoven H, Brunner HG, Veltman JA, Kleefstra T TITLE Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects. JOURNAL J Med Genet 49:179-83 (2012) DOI:10.1136/jmedgenet-2011-100542 REFERENCE PMID:22459677 AUTHORS Harms MB, Ori-McKenney KM, Scoto M, Tuck EP, Bell S, Ma D, Masi S, Allred P, Al-Lozi M, Reilly MM, Miller LJ, Jani-Acsadi A, Pestronk A, Shy ME, Muntoni F, Vallee RB, Baloh RH TITLE Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy. JOURNAL Neurology 78:1714-20 (2012) DOI:10.1212/WNL.0b013e3182556c05 /// ENTRY 1781v1 Variant NAME DYNC1I2 mutation GENE DYNC1I2 dynein cytoplasmic 1 intermediate chain 2 [KO:K10415] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 603331 NETWORK nt06515 Regulation of kinetochore-microtubule interactions DISEASE H02461 Neurodevelopmental disorder with microcephaly REFERENCE PMID:31079899 AUTHORS Ansar M, Ullah F, Paracha SA, Adams DJ, Lai A, Pais L, Iwaszkiewicz J, Millan F, Sarwar MT, Agha Z, Shah SF, Qaisar AA, Falconnet E, Zoete V, Ranza E, Makrythanasis P, Santoni FA, Ahmed J, Katsanis N, Walsh C, Davis EE, Antonarakis SE TITLE Bi-allelic Variants in DYNC1I2 Cause Syndromic Microcephaly with Intellectual Disability, Cerebral Malformations, and Dysmorphic Facial Features. JOURNAL Am J Hum Genet 104:1073-1087 (2019) DOI:10.1016/j.ajhg.2019.04.002 /// ENTRY 1789v1 Variant NAME DNMT3B mutation GENE DNMT3B DNA methyltransferase 3 beta [KO:K17399] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 602900 NETWORK nt06512 Chromosome cohesion and segregation DISEASE H00591 Facioscapulohumeral muscular dystrophy H02308 Immunodeficiency-centromeric instability-facial anomalies syndrome REFERENCE PMID:10647011 AUTHORS Xu GL, Bestor TH, Bourc'his D, Hsieh CL, Tommerup N, Bugge M, Hulten M, Qu X, Russo JJ, Viegas-Pequignot E TITLE Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene. JOURNAL Nature 402:187-91 (1999) DOI:10.1038/46052 REFERENCE PMID:27153398 AUTHORS van den Boogaard ML, Lemmers RJLF, Balog J, Wohlgemuth M, Auranen M, Mitsuhashi S, van der Vliet PJ, Straasheijm KR, van den Akker RFP, Kriek M, Laurense-Bik MEY, Raz V, van Ostaijen-Ten Dam MM, Hansson KBM, van der Kooi EL, Kiuru-Enari S, Udd B, van Tol MJD, Nishino I, Tawil R, Tapscott SJ, van Engelen BGM, van der Maarel SM TITLE Mutations in DNMT3B Modify Epigenetic Repression of the D4Z4 Repeat and the Penetrance of Facioscapulohumeral Dystrophy. JOURNAL Am J Hum Genet 98:1020-1029 (2016) DOI:10.1016/j.ajhg.2016.03.013 /// ENTRY 178v1 Variant NAME AGL deficiency GENE AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase [KO:K01196] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 610860 NETWORK nt06017 Glycogen metabolism DISEASE H01941 Glycogen storage disease type III REFERENCE PMID:19834502 AUTHORS Aoyama Y, Ozer I, Demirkol M, Ebara T, Murase T, Podskarbi T, Shin YS, Gokcay G, Okubo M TITLE Molecular features of 23 patients with glycogen storage disease type III in Turkey: a novel mutation p.R1147G associated with isolated glucosidase deficiency, along with 9 AGL mutations. JOURNAL J Hum Genet 54:681-6 (2009) DOI:10.1038/jhg.2009.100 /// ENTRY 1798v1 Variant NAME ALG7 deficiency GENE DPAGT1 dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 [KO:K01001] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 191350 NETWORK nt06015 N-Glycan biosynthesis DISEASE H00118 Congenital disorders of glycosylation type I REFERENCE PMID:12872255 AUTHORS Wu X, Rush JS, Karaoglu D, Krasnewich D, Lubinsky MS, Waechter CJ, Gilmore R, Freeze HH TITLE Deficiency of UDP-GlcNAc:Dolichol Phosphate N-Acetylglucosamine-1 Phosphate Transferase (DPAGT1) causes a novel congenital disorder of Glycosylation Type Ij. JOURNAL Hum Mutat 22:144-50 (2003) DOI:10.1002/humu.10239 /// ENTRY 1806v1 Variant NAME DPYD deficiency GENE DPYD dihydropyrimidine dehydrogenase [KO:K00207] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 612779 /// ENTRY 1807v1 Variant NAME DPYS deficiency GENE DPYS dihydropyrimidinase [KO:K01464] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 613326 /// ENTRY 182v1 Variant NAME JAG1 mutation GENE JAG1 jagged canonical Notch ligand 1 [KO:K06052] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 601920 NETWORK nt06511 NOTCH signaling DISEASE H00549 Tetralogy of Fallot H00551 Alagille syndrome REFERENCE PMID:22306179 AUTHORS Penton AL, Leonard LD, Spinner NB TITLE Notch signaling in human development and disease. JOURNAL Semin Cell Dev Biol 23:450-7 (2012) DOI:10.1016/j.semcdb.2012.01.010 /// ENTRY 183v1 Variant NAME AGT mutation GENE AGT angiotensinogen [KO:K09821] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 106150 NETWORK nt06316 Renin-angiotensin-aldosterone signaling DISEASE H00575 Renal tubular dysgenesis REFERENCE PMID:16116425 AUTHORS Gribouval O, Gonzales M, Neuhaus T, Aziza J, Bieth E, Laurent N, Bouton JM, Feuillet F, Makni S, Ben Amar H, Laube G, Delezoide AL, Bouvier R, Dijoud F, Ollagnon-Roman E, Roume J, Joubert M, Antignac C, Gubler MC TITLE Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis. JOURNAL Nat Genet 37:964-8 (2005) DOI:10.1038/ng1623 /// ENTRY 1848v1 Variant NAME DUSP6 mutation GENE DUSP6 dual specificity phosphatase 6 [KO:K21946] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 602748 NETWORK nt06526 MAPK signaling DISEASE H00255 Hypogonadotropic hypogonadism REFERENCE PMID:23643382 AUTHORS Miraoui H, Dwyer AA, Sykiotis GP, Plummer L, Chung W, Feng B, Beenken A, Clarke J, Pers TH, Dworzynski P, Keefe K, Niedziela M, Raivio T, Crowley WF Jr, Seminara SB, Quinton R, Hughes VA, Kumanov P, Young J, Yialamas MA, Hall JE, Van Vliet G, Chanoine JP, Rubenstein J, Mohammadi M, Tsai PS, Sidis Y, Lage K, Pitteloud N TITLE Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism. JOURNAL Am J Hum Genet 92:725-43 (2013) DOI:10.1016/j.ajhg.2013.04.008 /// ENTRY 1855v1 Variant NAME DVL1 mutation GENE DVL1 dishevelled segment polarity protein 1 [KO:K02353] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 601365 NETWORK nt06505 WNT signaling DISEASE H00485 Robinow syndrome REFERENCE PMID:33919228 AUTHORS Guasto A, Cormier-Daire V TITLE Signaling Pathways in Bone Development and Their Related Skeletal Dysplasia. JOURNAL Int J Mol Sci 22:4321 (2021) DOI:10.3390/ijms22094321 /// ENTRY 1857v1 Variant NAME DVL3 mutation GENE DVL3 dishevelled segment polarity protein 3 [KO:K02353] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 601368 NETWORK nt06505 WNT signaling DISEASE H00485 Robinow syndrome REFERENCE PMID:33919228 AUTHORS Guasto A, Cormier-Daire V TITLE Signaling Pathways in Bone Development and Their Related Skeletal Dysplasia. JOURNAL Int J Mol Sci 22:4321 (2021) DOI:10.3390/ijms22094321 /// ENTRY 185v1 Variant NAME AGTR1 mutation GENE AGTR1 angiotensin II receptor type 1 [KO:K04166] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 106165 NETWORK nt06316 Renin-angiotensin-aldosterone signaling DISEASE H00575 Renal tubular dysgenesis REFERENCE PMID:16116425 AUTHORS Gribouval O, Gonzales M, Neuhaus T, Aziza J, Bieth E, Laurent N, Bouton JM, Feuillet F, Makni S, Ben Amar H, Laube G, Delezoide AL, Bouvier R, Dijoud F, Ollagnon-Roman E, Roume J, Joubert M, Antignac C, Gubler MC TITLE Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis. JOURNAL Nat Genet 37:964-8 (2005) DOI:10.1038/ng1623 /// ENTRY 1892v1 Variant NAME ECHS1 deficiency GENE ECHS1 enoyl-CoA hydratase, short chain 1 [KO:K07511] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 602292 NETWORK nt06020 beta-Oxidation in mitochondria DISEASE H00525 Disorders of mitochondrial fatty-acid oxidation REFERENCE PMID:25125611 AUTHORS Peters H, Buck N, Wanders R, Ruiter J, Waterham H, Koster J, Yaplito-Lee J, Ferdinandusse S, Pitt J TITLE ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism. JOURNAL Brain 137:2903-8 (2014) DOI:10.1093/brain/awu216 /// ENTRY 190v1 Variant NAME NROB1 mutation GENE NR0B1 nuclear receptor subfamily 0 group B member 1 [KO:K08562] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 300473 NETWORK nt06310 CRH-ACTH-cortisol signaling DISEASE H01772 Adrenal hypoplasia, congenital REFERENCE PMID:9032275 AUTHORS Ito M, Yu R, Jameson JL TITLE DAX-1 inhibits SF-1-mediated transactivation via a carboxy-terminal domain that is deleted in adrenal hypoplasia congenita. JOURNAL Mol Cell Biol 17:1476-83 (1997) DOI:10.1128/MCB.17.3.1476 REFERENCE PMID:20542258 AUTHORS Fichna M, Zurawek M, Gut P, Sowinski J, Nowak J TITLE Adrenal hypoplasia congenita - an uncommon reason of primary adrenal insufficiency. JOURNAL Ann Endocrinol (Paris) 71:309-13 (2010) DOI:10.1016/j.ando.2010.04.003 REFERENCE PMID:12629128 AUTHORS Brown P, Scobie GA, Townsend J, Bayne RA, Seckl JR, Saunders PT, Anderson RA TITLE Identification of a novel missense mutation that is as damaging to DAX-1 repressor function as a nonsense mutation. JOURNAL J Clin Endocrinol Metab 88:1341-9 (2003) DOI:10.1210/jc.2002-021560 REFERENCE PMID:7990958 AUTHORS Muscatelli F, Strom TM, Walker AP, Zanaria E, Recan D, Meindl A, Bardoni B, Guioli S, Zehetner G, Rabl W, et al. TITLE Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism. JOURNAL Nature 372:672-6 (1994) DOI:10.1038/372672a0 REFERENCE PMID:8636263 AUTHORS Yanase T, Takayanagi R, Oba K, Nishi Y, Ohe K, Nawata H TITLE New mutations of DAX-1 genes in two Japanese patients with X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism. JOURNAL J Clin Endocrinol Metab 81:530-5 (1996) DOI:10.1210/jcem.81.2.8636263 REFERENCE PMID:19616058 AUTHORS Hoivik EA, Lewis AE, Aumo L, Bakke M TITLE Molecular aspects of steroidogenic factor 1 (SF-1). JOURNAL Mol Cell Endocrinol 315:27-39 (2010) DOI:10.1016/j.mce.2009.07.003 /// ENTRY 1911v1 Variant NAME PHC1 mutation GENE PHC1 polyhomeotic homolog 1 [KO:K11456] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 602978 NETWORK nt06523 Epigenetic regulation by Polycomb complexes DISEASE H00269 Primary microcephaly REFERENCE PMID:23418308 AUTHORS Awad S, Al-Dosari MS, Al-Yacoub N, Colak D, Salih MA, Alkuraya FS, Poizat C TITLE Mutation in PHC1 implicates chromatin remodeling in primary microcephaly pathogenesis. JOURNAL Hum Mol Genet 22:2200-13 (2013) DOI:10.1093/hmg/ddt072 /// ENTRY 191v1 Variant NAME AHCY deficiency GENE AHCY adenosylhomocysteinase [KO:K01251] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 180960 NETWORK nt06030 Methionine metabolism DISEASE H00184 Hypermethioninemia REFERENCE PMID:15024124 AUTHORS Baric I, Fumic K, Glenn B, Cuk M, Schulze A, Finkelstein JD, James SJ, Mejaski-Bosnjak V, Pazanin L, Pogribny IP, Rados M, Sarnavka V, Scukanec-Spoljar M, Allen RH, Stabler S, Uzelac L, Vugrek O, Wagner C, Zeisel S, Mudd SH TITLE S-adenosylhomocysteine hydrolase deficiency in a human: a genetic disorder of methionine metabolism. JOURNAL Proc Natl Acad Sci U S A 101:4234-9 (2004) DOI:10.1073/pnas.0400658101 /// ENTRY 1950v1 Variant NAME EGF overexpression GENE EGF epidermal growth factor [KO:K04357] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION overexpression NETWORK nt06210 ERK signaling nt06214 PI3K signaling nt06260 Colorectal cancer nt06526 MAPK signaling nt06530 PI3K signaling DISEASE H00020 Colorectal cancer REFERENCE PMID:7912978 AUTHORS Hayashi Y, Widjono YW, Ohta K, Hanioka K, Obayashi C, Itoh K, Imai Y, Itoh H TITLE Expression of EGF, EGF-receptor, p53, v-erb B and ras p21 in colorectal neoplasms by immunostaining paraffin-embedded tissues. JOURNAL Pathol Int 44:124-30 (1994) DOI:10.1111/j.1440-1827.1994.tb01696.x REFERENCE PMID:15668269 AUTHORS Spano JP, Fagard R, Soria JC, Rixe O, Khayat D, Milano G TITLE Epidermal growth factor receptor signaling in colorectal cancer: preclinical data and therapeutic perspectives. JOURNAL Ann Oncol 16:189-94 (2005) DOI:10.1093/annonc/mdi057 /// ENTRY 1956v1 Variant NAME EGFR amplification GENE EGFR epidermal growth factor receptor [KO:K04361] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION amplification ClinVar: 59680 59682 dbVar: nsv532206 nsv532208 NETWORK nt06210 ERK signaling nt06214 PI3K signaling nt06220 Calcium signaling nt06265 Bladder cancer nt06273 Glioma nt06526 MAPK signaling nt06528 Calcium signaling nt06530 PI3K signaling DISEASE H00014 Non-small cell lung cancer H00022 Bladder cancer H00042 Glioma REFERENCE PMID:27809598 AUTHORS Miller JJ, Wen PY TITLE Emerging targeted therapies for glioma. JOURNAL Expert Opin Emerg Drugs 21:441-452 (2016) DOI:10.1080/14728214.2016.1257609 REFERENCE PMID:22323597 AUTHORS Szerlip NJ, Pedraza A, Chakravarty D, Azim M, McGuire J, Fang Y, Ozawa T, Holland EC, Huse JT, Jhanwar S, Leversha MA, Mikkelsen T, Brennan CW TITLE Intratumoral heterogeneity of receptor tyrosine kinases EGFR and PDGFRA amplification in glioblastoma defines subpopulations with distinct growth factor response. JOURNAL Proc Natl Acad Sci U S A 109:3041-6 (2012) DOI:10.1073/pnas.1114033109 REFERENCE PMID:17149381 AUTHORS Sugano K, Kakizoe T. TITLE Genetic alterations in bladder cancer and their clinical applications in molecular tumor staging. JOURNAL Nat Clin Pract Urol 3:642-52 (2006) DOI:10.1038/ncpuro0649 REFERENCE PMID:16474624 AUTHORS Wolff EM, Liang G, Jones PA. TITLE Mechanisms of Disease: genetic and epigenetic alterations that drive bladder cancer. JOURNAL Nat Clin Pract Urol 2:502-10 (2005) DOI:10.1038/ncpuro0318 /// ENTRY 1956v2 Variant NAME EGFR mutation in non-small cell lung cancer GENE EGFR epidermal growth factor receptor [KO:K04361] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION exon 19 deletion ClinVar: 177620 dbSNP: rs727504233 VARIATION mutation L858R ClinVar: 16609 376282 376280 dbSNP: rs121434568 rs1057519848 rs1057519847 VARIATION exon 20 insertion ClinVar: 45263 dbSNP: rs1554350366 NETWORK nt06210 ERK signaling nt06214 PI3K signaling nt06220 Calcium signaling nt06266 Non-small cell lung cancer nt06526 MAPK signaling nt06528 Calcium signaling nt06530 PI3K signaling DISEASE H00014 Non-small cell lung cancer H00042 Glioma DRUG_TARGET Afatinib (DG00717): D09733 Amivantamab: D11894 Dacomitinib (DG01793): D10514 Erlotinib (DG00711): D04023 Gefitinib: D01977 Mobocertinib (DG03148): D11969 Sunvozertinib: D12506 REFERENCE PMID:21850578 AUTHORS Toyooka S, Mitsudomi T, Soh J, Aokage K, Yamane M, Oto T, Kiura K, Miyoshi S TITLE Molecular oncology of lung cancer. JOURNAL Gen Thorac Cardiovasc Surg 59:527-37 (2011) DOI:10.1007/s11748-010-0743-3 REFERENCE PMID:28167215 AUTHORS Lee DH TITLE Treatments for EGFR-mutant non-small cell lung cancer (NSCLC): The road to a success, paved with failures. JOURNAL Pharmacol Ther 174:1-21 (2017) DOI:10.1016/j.pharmthera.2017.02.001 REFERENCE PMID:15118073 AUTHORS Lynch TJ, Bell DW, Sordella R, Gurubhagavatula S, Okimoto RA, Brannigan BW, Harris PL, Haserlat SM, Supko JG, Haluska FG, Louis DN, Christiani DC, Settleman J, Haber DA. TITLE Activating mutations in the epidermal growth factor receptor underlying responsiveness of non-small-cell lung cancer to gefitinib. JOURNAL N Engl J Med 350:2129-39 (2004) DOI:10.1056/NEJMoa040938 REFERENCE PMID:16187797 AUTHORS Greulich H, Chen TH, Feng W, Janne PA, Alvarez JV, Zappaterra M, Bulmer SE, Frank DA, Hahn WC, Sellers WR, Meyerson M TITLE Oncogenic transformation by inhibitor-sensitive and -resistant EGFR mutants. JOURNAL PLoS Med 2:e313 (2005) DOI:10.1371/journal.pmed.0020313 REFERENCE PMID:21764376 AUTHORS Yasuda H, Kobayashi S, Costa DB TITLE EGFR exon 20 insertion mutations in non-small-cell lung cancer: preclinical data and clinical implications. JOURNAL Lancet Oncol 13:e23-31 (2012) DOI:10.1016/S1470-2045(11)70129-2 /// ENTRY 1956v3 Variant NAME First generation TKI-resistant EGFR mutation GENE EGFR epidermal growth factor receptor [KO:K04361] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutation T790M ClinVar: 16613 dbSNP: rs121434569 VARIATION exon 19 deletion ClinVar: 177620 dbSNP: rs727504233 VARIATION mutation L858R ClinVar: 16609 376282 376280 dbSNP: rs121434568 rs1057519848 rs1057519847 NETWORK nt06210 ERK signaling nt06214 PI3K signaling nt06220 Calcium signaling nt06266 Non-small cell lung cancer nt06526 MAPK signaling nt06528 Calcium signaling nt06530 PI3K signaling DISEASE H00014 Non-small cell lung cancer H00042 Glioma DRUG_TARGET Aumolertinib (DG03209): D12258 D12259 Lazertinib (DG03205): D11980 D12245 Osimertinib: D10766 REFERENCE PMID:28149837 AUTHORS Sullivan I, Planchard D TITLE Next-Generation EGFR Tyrosine Kinase Inhibitors for Treating EGFR-Mutant Lung Cancer beyond First Line. JOURNAL Front Med (Lausanne) 3:76 (2016) DOI:10.3389/fmed.2016.00076 /// ENTRY 1956v4 Variant NAME EGFR overexpression GENE EGFR epidermal growth factor receptor [KO:K04361] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION overexpression NETWORK nt06210 ERK signaling nt06214 PI3K signaling nt06260 Colorectal cancer nt06265 Bladder cancer nt06266 Non-small cell lung cancer nt06270 Breast cancer nt06273 Glioma nt06526 MAPK signaling nt06530 PI3K signaling DISEASE H00014 Non-small cell lung cancer H00020 Colorectal cancer H00022 Bladder cancer H00031 Breast cancer H00042 Glioma REFERENCE PMID:16474624 AUTHORS Wolff EM, Liang G, Jones PA. TITLE Mechanisms of Disease: genetic and epigenetic alterations that drive bladder cancer. JOURNAL Nat Clin Pract Urol 2:502-10 (2005) DOI:10.1038/ncpuro0318 REFERENCE PMID:26925626 AUTHORS Alanazi IO, Khan Z TITLE Understanding EGFR Signaling in Breast Cancer and Breast Cancer Stem Cells: Overexpression and Therapeutic Implications. JOURNAL Asian Pac J Cancer Prev 17:445-53 (2016) DOI:10.7314/APJCP.2016.17.2.445 REFERENCE PMID:23007009 AUTHORS Hegi ME, Rajakannu P, Weller M TITLE Epidermal growth factor receptor: a re-emerging target in glioblastoma. JOURNAL Curr Opin Neurol 25:774-9 (2012) DOI:10.1097/WCO.0b013e328359b0bc REFERENCE PMID:16112428 AUTHORS Panani AD, Roussos C. TITLE Cytogenetic and molecular aspects of lung cancer. JOURNAL Cancer Lett 239:1-9 (2006) DOI:10.1016/j.canlet.2005.06.030 REFERENCE PMID:9815883 AUTHORS Radinsky R, Risin S, Fan D, Dong Z, Bielenberg D, Bucana CD, Fidler IJ TITLE Level and function of epidermal growth factor receptor predict the metastatic potential of human colon carcinoma cells. JOURNAL Clin Cancer Res 1:19-31 (1995) /// ENTRY 1956v5 Variant NAME EGFR mutation in glioblastoma GENE EGFR epidermal growth factor receptor [KO:K04361] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION EGFRvIII (deletion of exons 2–7 or amino acids 6-273) NETWORK nt06210 ERK signaling nt06214 PI3K signaling nt06273 Glioma nt06526 MAPK signaling nt06530 PI3K signaling DISEASE H00042 Glioma REFERENCE PMID:23777544 AUTHORS Gan HK, Cvrljevic AN, Johns TG TITLE The epidermal growth factor receptor variant III (EGFRvIII): where wild things are altered. JOURNAL FEBS J 280:5350-70 (2013) DOI:10.1111/febs.12393 REFERENCE PMID:29321659 AUTHORS An Z, Aksoy O, Zheng T, Fan QW, Weiss WA TITLE Epidermal growth factor receptor and EGFRvIII in glioblastoma: signaling pathways and targeted therapies. JOURNAL Oncogene 37:1561-1575 (2018) DOI:10.1038/s41388-017-0045-7 /// ENTRY 201163v1 Variant NAME FLCN mutation GENE FLCN folliculin [KO:K09594] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 607273 NETWORK nt06522 mTOR signaling DISEASE H00818 Birt-Hogg-Dube syndrome REFERENCE PMID:32612235 AUTHORS Napolitano G, Di Malta C, Esposito A, de Araujo MEG, Pece S, Bertalot G, Matarese M, Benedetti V, Zampelli A, Stasyk T, Siciliano D, Venuta A, Cesana M, Vilardo C, Nusco E, Monfregola J, Calcagni A, Di Fiore PP, Huber LA, Ballabio A TITLE A substrate-specific mTORC1 pathway underlies Birt-Hogg-Dube syndrome. JOURNAL Nature 585:597-602 (2020) DOI:10.1038/s41586-020-2444-0 /// ENTRY 201595v1 Variant NAME STT3B deficiency GENE STT3B STT3 oligosaccharyltransferase complex catalytic subunit B [KO:K07151] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 608605 NETWORK nt06015 N-Glycan biosynthesis DISEASE H00118 Congenital disorders of glycosylation type I REFERENCE PMID:23842455 AUTHORS Shrimal S, Ng BG, Losfeld ME, Gilmore R, Freeze HH TITLE Mutations in STT3A and STT3B cause two congenital disorders of glycosylation. JOURNAL Hum Mol Genet 22:4638-45 (2013) DOI:10.1093/hmg/ddt312 /// ENTRY 2022v1 Variant NAME ENG mutation GENE ENG endoglin [KO:K06526] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 131195 NETWORK nt06507 TGFB signaling DISEASE H00533 Hereditary hemorrhagic telangiectasia REFERENCE PMID:33167572 AUTHORS Bernabeu C, Bayrak-Toydemir P, McDonald J, Letarte M TITLE Potential Second-Hits in Hereditary Hemorrhagic Telangiectasia. JOURNAL J Clin Med 9:E3571 (2020) DOI:10.3390/jcm9113571 /// ENTRY 2027v1 Variant NAME ENO3 deficiency GENE ENO3 enolase 3 [KO:K01689] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 131370 NETWORK nt06017 Glycogen metabolism DISEASE H01953 Glycogen storage disease type XIII REFERENCE PMID:11506403 AUTHORS Comi GP, Fortunato F, Lucchiari S, Bordoni A, Prelle A, Jann S, Keller A, Ciscato P, Galbiati S, Chiveri L, Torrente Y, Scarlato G, Bresolin N TITLE Beta-enolase deficiency, a new metabolic myopathy of distal glycolysis. JOURNAL Ann Neurol 50:202-7 (2001) DOI:10.1002/ana.1095 /// ENTRY 203068v1 Variant NAME TUBB mutation GENE TUBB tubulin beta class I [KO:K07375] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 191130 NETWORK nt06515 Regulation of kinetochore-microtubule interactions DISEASE H01579 Congenital symmetric circumferential skin creases H01881 Complex cortical dysplasia with other brain malformations REFERENCE PMID:23246003 AUTHORS Breuss M, Heng JI, Poirier K, Tian G, Jaglin XH, Qu Z, Braun A, Gstrein T, Ngo L, Haas M, Bahi-Buisson N, Moutard ML, Passemard S, Verloes A, Gressens P, Xie Y, Robson KJ, Rani DS, Thangaraj K, Clausen T, Chelly J, Cowan NJ, Keays DA TITLE Mutations in the beta-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities. JOURNAL Cell Rep 2:1554-62 (2012) DOI:10.1016/j.celrep.2012.11.017 REFERENCE PMID:26637975 AUTHORS Isrie M, Breuss M, Tian G, Hansen AH, Cristofoli F, Morandell J, Kupchinsky ZA, Sifrim A, Rodriguez-Rodriguez CM, Dapena EP, Doonanco K, Leonard N, Tinsa F, Moortgat S, Ulucan H, Koparir E, Karaca E, Katsanis N, Marton V, Vermeesch JR, Davis EE, Cowan NJ, Keays DA, Van Esch H TITLE Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type. JOURNAL Am J Hum Genet 97:790-800 (2015) DOI:10.1016/j.ajhg.2015.10.014 /// ENTRY 203228v1 Variant NAME C9ORF72 mutation GENE C9orf72 C9orf72-SMCR8 complex subunit [KO:K23609] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 614260 NETWORK nt06464 Amyotrophic lateral sclerosis nt06466 Pathways of neurodegeneration nt06532 Autophagy DISEASE H00058 Amyotrophic lateral sclerosis (ALS) H02342 Frontotemporal dementia and amyotrophic lateral sclerosis REFERENCE PMID:21944778 AUTHORS DeJesus-Hernandez M, Mackenzie IR, Boeve BF, Boxer AL, Baker M, Rutherford NJ, Nicholson AM, Finch NA, Flynn H, Adamson J, Kouri N, Wojtas A, Sengdy P, Hsiung GY, Karydas A, Seeley WW, Josephs KA, Coppola G, Geschwind DH, Wszolek ZK, Feldman H, Knopman DS, Petersen RC, Miller BL, Dickson DW, Boylan KB, Graff-Radford NR, Rademakers R TITLE Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. JOURNAL Neuron 72:245-56 (2011) DOI:10.1016/j.neuron.2011.09.011 REFERENCE PMID:21944779 AUTHORS Renton AE, Majounie E, Waite A, Simon-Sanchez J, Rollinson S, Gibbs JR, Schymick JC, Laaksovirta H, van Swieten JC, Myllykangas L, Kalimo H, Paetau A, Abramzon Y, Remes AM, Kaganovich A, Scholz SW, Duckworth J, Ding J, Harmer DW, Hernandez DG, Johnson JO, Mok K, Ryten M, Trabzuni D, Guerreiro RJ, Orrell RW, Neal J, Murray A, Pearson J, Jansen IE, Sondervan D, Seelaar H, Blake D, Young K, Halliwell N, Callister JB, Toulson G, Richardson A, Gerhard A, Snowden J, Mann D, Neary D, Nalls MA, Peuralinna T, Jansson L, Isoviita VM, Kaivorinne AL, Holtta-Vuori M, Ikonen E, Sulkava R, Benatar M, Wuu J, Chio A, Restagno G, Borghero G, Sabatelli M, Heckerman D, Rogaeva E, Zinman L, Rothstein JD, Sendtner M, Drepper C, Eichler EE, Alkan C, Abdullaev Z, Pack SD, Dutra A, Pak E, Hardy J, Singleton A, Williams NM, Heutink P, Pickering-Brown S, Morris HR, Tienari PJ, Traynor BJ TITLE A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. JOURNAL Neuron 72:257-68 (2011) DOI:10.1016/j.neuron.2011.09.010 REFERENCE PMID:23393093 AUTHORS Mori K, Weng SM, Arzberger T, May S, Rentzsch K, Kremmer E, Schmid B, Kretzschmar HA, Cruts M, Van Broeckhoven C, Haass C, Edbauer D TITLE The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS. JOURNAL Science 339:1335-8 (2013) DOI:10.1126/science.1232927 /// ENTRY 2033v1 Variant NAME EP300 mutation GENE EP300 E1A binding protein p300 [KO:K04498] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 602700 NETWORK nt06523 Epigenetic regulation by Polycomb complexes DISEASE H00504 Rubinstein-Taybi syndrome H02650 Menke-Hennekam syndrome REFERENCE PMID:19353645 AUTHORS Foley P, Bunyan D, Stratton J, Dillon M, Lynch SA TITLE Further case of Rubinstein-Taybi syndrome due to a deletion in EP300. JOURNAL Am J Med Genet A 149A:997-1000 (2009) DOI:10.1002/ajmg.a.32771 REFERENCE PMID:27465822 AUTHORS Hamilton MJ, Newbury-Ecob R, Holder-Espinasse M, Yau S, Lillis S, Hurst JA, Clement E, Reardon W, Joss S, Hobson E, Blyth M, Al-Shehhi M, Lynch SA, Suri M TITLE Rubinstein-Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum. JOURNAL Clin Dysmorphol 25:135-45 (2016) DOI:10.1097/MCD.0000000000000143 /// ENTRY 2056v1 Variant NAME EPO mutation GENE EPO erythropoietin [KO:K05437] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 133170 NETWORK nt06518 JAK-STAT signaling DISEASE H00236 Congenital polycythemia REFERENCE PMID:29514032 AUTHORS Zmajkovic J, Lundberg P, Nienhold R, Torgersen ML, Sundan A, Waage A, Skoda RC TITLE A Gain-of-Function Mutation in EPO in Familial Erythrocytosis. JOURNAL N Engl J Med 378:924-930 (2018) DOI:10.1056/NEJMoa1709064 /// ENTRY 2057v1 Variant NAME EPOR mutation GENE EPOR erythropoietin receptor [KO:K05079] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 133171 NETWORK nt06518 JAK-STAT signaling DISEASE H00236 Congenital polycythemia REFERENCE PMID:9292543 AUTHORS Kralovics R, Indrak K, Stopka T, Berman BW, Prchal JF, Prchal JT TITLE Two new EPO receptor mutations: truncated EPO receptors are most frequently associated with primary familial and congenital polycythemias. JOURNAL Blood 90:2057-61 (1997) DOI:10.1182/blood.V90.5.2057 /// ENTRY 2064v1 Variant NAME ERBB2 overexpression GENE ERBB2 erb-b2 receptor tyrosine kinase 2 [KO:K05083] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION overexpression NETWORK nt06210 ERK signaling nt06214 PI3K signaling nt06219 JAK-STAT signaling nt06262 Pancreatic cancer nt06265 Bladder cancer nt06266 Non-small cell lung cancer nt06270 Breast cancer nt06526 MAPK signaling nt06530 PI3K signaling DISEASE H00014 Non-small cell lung cancer H00019 Pancreatic cancer H00022 Bladder cancer H00031 Breast cancer DRUG_TARGET Lapatinib (DG00715): D04024 Margetuximab: D10446 Neratinib (DG02303): D10898 Pertuzumab: D05446 Trastuzumab: D03257 Trastuzumab deruxtecan: D11529 Trastuzumab emtansine: D09980 Tucatinib (DG03240): D11141 D12442 REFERENCE PMID:17149381 AUTHORS Sugano K, Kakizoe T. TITLE Genetic alterations in bladder cancer and their clinical applications in molecular tumor staging. JOURNAL Nat Clin Pract Urol 3:642-52 (2006) DOI:10.1038/ncpuro0649 REFERENCE PMID:10448115 AUTHORS Ingvarsson S. TITLE Molecular genetics of breast cancer progression. JOURNAL Semin Cancer Biol 9:277-88 (1999) DOI:10.1006/scbi.1999.0124 REFERENCE PMID:15351094 AUTHORS Kenemans P, Verstraeten RA, Verheijen RH. TITLE Oncogenic pathways in hereditary and sporadic breast cancer. JOURNAL Maturitas 49:34-43 (2004) DOI:10.1016/j.maturitas.2004.06.005 REFERENCE PMID:12459728 AUTHORS Bardeesy N, DePinho RA. TITLE Pancreatic cancer biology and genetics. JOURNAL Nat Rev Cancer 2:897-909 (2002) DOI:10.1038/nrc949 REFERENCE PMID:16112428 AUTHORS Panani AD, Roussos C. TITLE Cytogenetic and molecular aspects of lung cancer. JOURNAL Cancer Lett 239:1-9 (2006) DOI:10.1016/j.canlet.2005.06.030 /// ENTRY 2064v2 Variant NAME ERBB2 mutation GENE ERBB2 erb-b2 receptor tyrosine kinase 2 [KO:K05083] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutation V842I ClinVar: 375994 dbSNP: rs1057519738 REFERENCE PMID:26320869 AUTHORS Wen W, Chen WS, Xiao N, Bender R, Ghazalpour A, Tan Z, Swensen J, Millis SZ, Basu G, Gatalica Z, Press MF TITLE Mutations in the Kinase Domain of the HER2/ERBB2 Gene Identified in a Wide Variety of Human Cancers. JOURNAL J Mol Diagn 17:487-95 (2015) DOI:10.1016/j.jmoldx.2015.04.003 /// ENTRY 2064v3 Variant NAME ERBB2 amplification GENE ERBB2 erb-b2 receptor tyrosine kinase 2 [KO:K05083] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION amplification ClinVar: 148363 58696 57282 dbVar: nsv817369 nsv531185 nsv529527 NETWORK nt06210 ERK signaling nt06214 PI3K signaling nt06261 Gastric cancer nt06526 MAPK signaling nt06530 PI3K signaling DISEASE H00018 Gastric cancer DRUG_TARGET Neratinib (DG02303): D10898 Pertuzumab: D05446 Trastuzumab emtansine: D09980 REFERENCE PMID:26267324 AUTHORS Riquelme I, Saavedra K, Espinoza JA, Weber H, Garcia P, Nervi B, Garrido M, Corvalan AH, Roa JC, Bizama C TITLE Molecular classification of gastric cancer: Towards a pathway-driven targeted therapy. JOURNAL Oncotarget 6:24750-79 (2015) DOI:10.18632/oncotarget.4990 REFERENCE PMID:16154715 AUTHORS Stock M, Otto F TITLE Gene deregulation in gastric cancer. JOURNAL Gene 360:1-19 (2005) DOI:10.1016/j.gene.2005.06.026 REFERENCE PMID:15224192 AUTHORS Zheng L, Wang L, Ajani J, Xie K. TITLE Molecular basis of gastric cancer development and progression. JOURNAL Gastric Cancer 7:61-77 (2004) DOI:10.1007/s10120-004-0277-4 /// ENTRY 2066v1 Variant NAME ERBB4 mutation GENE ERBB4 erb-b2 receptor tyrosine kinase 4 [KO:K05085] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 600543 NETWORK nt06464 Amyotrophic lateral sclerosis nt06530 PI3K signaling DISEASE H00058 Amyotrophic lateral sclerosis (ALS) REFERENCE PMID:24119685 AUTHORS Takahashi Y, Fukuda Y, Yoshimura J, Toyoda A, Kurppa K, Moritoyo H, Belzil VV, Dion PA, Higasa K, Doi K, Ishiura H, Mitsui J, Date H, Ahsan B, Matsukawa T, Ichikawa Y, Moritoyo T, Ikoma M, Hashimoto T, Kimura F, Murayama S, Onodera O, Nishizawa M, Yoshida M, Atsuta N, Sobue G, Fifita JA, Williams KL, Blair IP, Nicholson GA, Gonzalez-Perez P, Brown RH Jr, Nomoto M, Elenius K, Rouleau GA, Fujiyama A, Morishita S, Goto J, Tsuji S TITLE ERBB4 mutations that disrupt the neuregulin-ErbB4 pathway cause amyotrophic lateral sclerosis type 19. JOURNAL Am J Hum Genet 93:900-5 (2013) DOI:10.1016/j.ajhg.2013.09.008 /// ENTRY 2067v1 Variant NAME ERCC1 mutation GENE ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit [KO:K10849] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 126380 NETWORK nt06502 Nucleotide excision repair nt06508 Interstrand crosslink repair DISEASE H02570 Cerebro-oculo-facio-skeletal syndrome REFERENCE PMID:17273966 AUTHORS Jaspers NG, Raams A, Silengo MC, Wijgers N, Niedernhofer LJ, Robinson AR, Giglia-Mari G, Hoogstraten D, Kleijer WJ, Hoeijmakers JH, Vermeulen W TITLE First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure. JOURNAL Am J Hum Genet 80:457-66 (2007) DOI:10.1086/512486 /// ENTRY 2068v1 Variant NAME ERCC2 mutation GENE ERCC2 ERCC excision repair 2, TFIIH core complex helicase subunit [KO:K10844] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 126340 NETWORK nt06502 Nucleotide excision repair DISEASE H00866 Trichothiodystrophy H01428 Xeroderma pigmentosum H02570 Cerebro-oculo-facio-skeletal syndrome REFERENCE PMID:7849702 AUTHORS Frederick GD, Amirkhan RH, Schultz RA, Friedberg EC TITLE Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene. JOURNAL Hum Mol Genet 3:1783-8 (1994) DOI:10.1093/hmg/3.10.1783 REFERENCE PMID:23382212 AUTHORS Abdulrahman W, Iltis I, Radu L, Braun C, Maglott-Roth A, Giraudon C, Egly JM, Poterszman A TITLE ARCH domain of XPD, an anchoring platform for CAK that conditions TFIIH DNA repair and transcription activities. JOURNAL Proc Natl Acad Sci U S A 110:E633-42 (2013) DOI:10.1073/pnas.1213981110 /// ENTRY 2069v1 Variant NAME EREG overexpression GENE EREG epiregulin [KO:K09784] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION overexpression NETWORK nt06210 ERK signaling nt06214 PI3K signaling nt06260 Colorectal cancer nt06526 MAPK signaling nt06530 PI3K signaling DISEASE H00020 Colorectal cancer REFERENCE PMID:21139621 AUTHORS Di Fiore F, Sesboue R, Michel P, Sabourin JC, Frebourg T TITLE Molecular determinants of anti-EGFR sensitivity and resistance in metastatic colorectal cancer. JOURNAL Br J Cancer 103:1765-72 (2010) DOI:10.1038/sj.bjc.6606008 REFERENCE PMID:27344184 AUTHORS Jing C, Jin YH, You Z, Qiong Q, Jun Z TITLE Prognostic value of amphiregulin and epiregulin mRNA expression in metastatic colorectal cancer patients. JOURNAL Oncotarget 7:55890-55899 (2016) DOI:10.18632/oncotarget.10151 REFERENCE PMID:20631481 AUTHORS Li XD, Miao SY, Wang GL, Yang L, Shu YQ, Yin YM TITLE Amphiregulin and epiregulin expression in colorectal carcinoma and the correlation with clinicopathological characteristics. JOURNAL Onkologie 33:353-8 (2010) DOI:10.1159/000315380 /// ENTRY 2071v1 Variant NAME ERCC3 mutation GENE ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit [KO:K10843] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 133510 NETWORK nt06502 Nucleotide excision repair DISEASE H00076 Cockayne syndrome H00866 Trichothiodystrophy H01428 Xeroderma pigmentosum REFERENCE PMID:16947863 AUTHORS Oh KS, Khan SG, Jaspers NG, Raams A, Ueda T, Lehmann A, Friedmann PS, Emmert S, Gratchev A, Lachlan K, Lucassan A, Baker CC, Kraemer KH TITLE Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome. JOURNAL Hum Mutat 27:1092-103 (2006) DOI:10.1002/humu.20392 /// ENTRY 2072v1 Variant NAME ERCC4 mutation GENE ERCC4 ERCC excision repair 4, endonuclease catalytic subunit [KO:K10848] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 133520 NETWORK nt06502 Nucleotide excision repair nt06508 Interstrand crosslink repair DISEASE H00076 Cockayne syndrome H00238 Fanconi anemia H01428 Xeroderma pigmentosum REFERENCE PMID:23623389 AUTHORS Kashiyama K, Nakazawa Y, Pilz DT, Guo C, Shimada M, Sasaki K, Fawcett H, Wing JF, Lewin SO, Carr L, Li TS, Yoshiura K, Utani A, Hirano A, Yamashita S, Greenblatt D, Nardo T, Stefanini M, McGibbon D, Sarkany R, Fassihi H, Takahashi Y, Nagayama Y, Mitsutake N, Lehmann AR, Ogi T TITLE Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia. JOURNAL Am J Hum Genet 92:807-19 (2013) DOI:10.1016/j.ajhg.2013.04.007 /// ENTRY 2073v1 Variant NAME ERCC5 mutation GENE ERCC5 ERCC excision repair 5, endonuclease [KO:K10846] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 133530 NETWORK nt06502 Nucleotide excision repair DISEASE H00076 Cockayne syndrome H01428 Xeroderma pigmentosum H02570 Cerebro-oculo-facio-skeletal syndrome REFERENCE PMID:35230528 AUTHORS Muniesa-Vargas A, Theil AF, Ribeiro-Silva C, Vermeulen W, Lans H TITLE XPG: a multitasking genome caretaker. JOURNAL Cell Mol Life Sci 79:166 (2022) DOI:10.1007/s00018-022-04194-5 /// ENTRY 2074v1 Variant NAME ERCC6 mutation GENE ERCC6 ERCC excision repair 6, chromatin remodeling factor [KO:K10841] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 609413 NETWORK nt06502 Nucleotide excision repair DISEASE H00076 Cockayne syndrome H02131 UV-sensitive syndrome H02570 Cerebro-oculo-facio-skeletal syndrome REFERENCE PMID:9443879 AUTHORS Mallery DL, Tanganelli B, Colella S, Steingrimsdottir H, van Gool AJ, Troelstra C, Stefanini M, Lehmann AR TITLE Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome. JOURNAL Am J Hum Genet 62:77-85 (1998) DOI:10.1086/301686 REFERENCE PMID:20456449 AUTHORS Jaakkola E, Mustonen A, Olsen P, Miettinen S, Savuoja T, Raams A, Jaspers NG, Shao H, Wu BL, Ignatius J TITLE ERCC6 founder mutation identified in Finnish patients with COFS syndrome. JOURNAL Clin Genet 78:541-7 (2010) DOI:10.1111/j.1399-0004.2010.01424.x /// ENTRY 2078v1 Variant NAME TMPRSS2-ERG fusion GENE ERG ETS transcription factor ERG [KO:K09435] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION deletion del(21)(q22.2;q22.3) COSF: 121 125 128 VARIATION inversion inv(21)(q22.2;q22.3) COSF: 121 125 128 NETWORK nt06240 Transcription nt06272 Prostate cancer DISEASE H00024 Prostate cancer REFERENCE PMID:19406209 AUTHORS Brenner JC, Chinnaiyan AM TITLE Translocations in epithelial cancers. JOURNAL Biochim Biophys Acta 1796:201-15 (2009) DOI:10.1016/j.bbcan.2009.04.005 REFERENCE PMID:19233641 AUTHORS Prensner JR, Chinnaiyan AM TITLE Oncogenic gene fusions in epithelial carcinomas. JOURNAL Curr Opin Genet Dev 19:82-91 (2009) DOI:10.1016/j.gde.2008.11.008 /// ENTRY 2078v2 Variant NAME EWSR1-ERG fusion GENE ERG ETS transcription factor ERG [KO:K09435] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION translocation t(21;22)(q22;q12) COSF: 159 155 154 NETWORK nt06240 Transcription DISEASE H00035 Ewing sarcoma REFERENCE PMID:12951587 AUTHORS Helman LJ, Meltzer P. TITLE Mechanisms of sarcoma development. JOURNAL Nat Rev Cancer 3:685-94 (2003) DOI:10.1038/nrc1168 REFERENCE PMID:19734027 AUTHORS Thway K TITLE Pathology of soft tissue sarcomas. JOURNAL Clin Oncol (R Coll Radiol) 21:695-705 (2009) DOI:10.1016/j.clon.2009.07.016 /// ENTRY 207v1 Variant NAME AKT1 mutation GENE AKT1 AKT serine/threonine kinase 1 [KO:K04456] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 164730 NETWORK nt06530 PI3K signaling DISEASE H01222 Cowden syndrome H02119 Proteus syndrome REFERENCE PMID:23246288 AUTHORS Orloff MS, He X, Peterson C, Chen F, Chen JL, Mester JL, Eng C TITLE Germline PIK3CA and AKT1 mutations in Cowden and Cowden-like syndromes. JOURNAL Am J Hum Genet 92:76-80 (2013) DOI:10.1016/j.ajhg.2012.10.021 REFERENCE PMID:27860216 AUTHORS Keppler-Noreuil KM, Parker VE, Darling TN, Martinez-Agosto JA TITLE Somatic overgrowth disorders of the PI3K/AKT/mTOR pathway & therapeutic strategies. JOURNAL Am J Med Genet C Semin Med Genet 172:402-421 (2016) DOI:10.1002/ajmg.c.31531 /// ENTRY 208v1 Variant NAME AKT2 mutation GENE AKT2 AKT serine/threonine kinase 2 [KO:K04456] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 164731 NETWORK nt06530 PI3K signaling DISEASE H01909 Hypoinsulinemic hypoglycemia with hemihypertrophy REFERENCE PMID:27860216 AUTHORS Keppler-Noreuil KM, Parker VE, Darling TN, Martinez-Agosto JA TITLE Somatic overgrowth disorders of the PI3K/AKT/mTOR pathway & therapeutic strategies. JOURNAL Am J Med Genet C Semin Med Genet 172:402-421 (2016) DOI:10.1002/ajmg.c.31531 REFERENCE PMID:30197175 AUTHORS Madsen RR, Vanhaesebroeck B, Semple RK TITLE Cancer-Associated PIK3CA Mutations in Overgrowth Disorders. JOURNAL Trends Mol Med 24:856-870 (2018) DOI:10.1016/j.molmed.2018.08.003 REFERENCE PMID:21979934 AUTHORS Hussain K, Challis B, Rocha N, Payne F, Minic M, Thompson A, Daly A, Scott C, Harris J, Smillie BJ, Savage DB, Ramaswami U, De Lonlay P, O'Rahilly S, Barroso I, Semple RK TITLE An activating mutation of AKT2 and human hypoglycemia. JOURNAL Science 334:474 (2011) DOI:10.1126/science.1210878 /// ENTRY 2099v1 Variant NAME ESR1 positive GENE ESR1 estrogen receptor 1 [KO:K08550] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION positive NETWORK nt06227 Nuclear receptor signaling nt06270 Breast cancer DISEASE H00031 Breast cancer REFERENCE PMID:24649067 AUTHORS Zhang MH, Man HT, Zhao XD, Dong N, Ma SL TITLE Estrogen receptor-positive breast cancer molecular signatures and therapeutic potentials (Review). JOURNAL Biomed Rep 2:41-52 (2014) DOI:10.3892/br.2013.187 REFERENCE PMID:15762276 AUTHORS Nadji M, Gomez-Fernandez C, Ganjei-Azar P, Morales AR TITLE Immunohistochemistry of estrogen and progesterone receptors reconsidered: experience with 5,993 breast cancers. JOURNAL Am J Clin Pathol 123:21-7 (2005) DOI:10.1309/4WV79N2GHJ3X1841 /// ENTRY 2099v2 Variant NAME ESR1 mutations GENE ESR1 estrogen receptor 1 [KO:K08550] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 133430 NETWORK nt06323 KISS1-GnRH-LH/FSH-E2 signaling DISEASE H02061 Estrogen resistance syndrome DRUG_TARGET Elacestrant (DG03078): D11672 REFERENCE PMID:8090165 AUTHORS Smith EP, Boyd J, Frank GR, Takahashi H, Cohen RM, Specker B, Williams TC, Lubahn DB, Korach KS TITLE Estrogen resistance caused by a mutation in the estrogen-receptor gene in a man. JOURNAL N Engl J Med 331:1056-61 (1994) DOI:10.1056/NEJM199410203311604 REFERENCE PMID:23841731 AUTHORS Quaynor SD, Stradtman EW Jr, Kim HG, Shen Y, Chorich LP, Schreihofer DA, Layman LC TITLE Delayed puberty and estrogen resistance in a woman with estrogen receptor alpha variant. JOURNAL N Engl J Med 369:164-71 (2013) DOI:10.1056/NEJMoa1303611 REFERENCE PMID:27754803 AUTHORS Bernard V, Kherra S, Francou B, Fagart J, Viengchareun S, Guechot J, Ladjouze A, Guiochon-Mantel A, Korach KS, Binart N, Lombes M, Christin-Maitre S TITLE Familial Multiplicity of Estrogen Insensitivity Associated With a Loss-of-Function ESR1 Mutation. JOURNAL J Clin Endocrinol Metab 102:93-99 (2017) DOI:10.1210/jc.2016-2749 /// ENTRY 210v1 Variant NAME ALAD deficiency GENE ALAD aminolevulinate dehydratase [KO:K01698] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 125270 NETWORK nt06011 Heme biosynthesis DISEASE H01763 Porphyria REFERENCE PMID:2063868 AUTHORS Plewinska M, Thunell S, Holmberg L, Wetmur JG, Desnick RJ TITLE delta-Aminolevulinate dehydratase deficient porphyria: identification of the molecular lesions in a severely affected homozygote. JOURNAL Am J Hum Genet 49:167-74 (1991) /// ENTRY 2115v1 Variant NAME TMPRSS2-ETV1 fusion GENE ETV1 ETS variant transcription factor 1 [KO:K09431] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION translocation t(7;21)(p21;q22) COSF: 122 115 134 REFERENCE PMID:19406209 AUTHORS Brenner JC, Chinnaiyan AM TITLE Translocations in epithelial cancers. JOURNAL Biochim Biophys Acta 1796:201-15 (2009) DOI:10.1016/j.bbcan.2009.04.005 REFERENCE PMID:19233641 AUTHORS Prensner JR, Chinnaiyan AM TITLE Oncogenic gene fusions in epithelial carcinomas. JOURNAL Curr Opin Genet Dev 19:82-91 (2009) DOI:10.1016/j.gde.2008.11.008 /// ENTRY 2119v1 Variant NAME TMPRSS2-ETV5 fusion GENE ETV5 ETS variant transcription factor 5 [KO:K15593] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION translocation t(3;21)(p28;q22) VARIATION translocation t(3;21)(q27;q22.3) NETWORK nt06240 Transcription nt06272 Prostate cancer DISEASE H00024 Prostate cancer REFERENCE PMID:19406209 AUTHORS Brenner JC, Chinnaiyan AM TITLE Translocations in epithelial cancers. JOURNAL Biochim Biophys Acta 1796:201-15 (2009) DOI:10.1016/j.bbcan.2009.04.005 REFERENCE PMID:19233641 AUTHORS Prensner JR, Chinnaiyan AM TITLE Oncogenic gene fusions in epithelial carcinomas. JOURNAL Curr Opin Genet Dev 19:82-91 (2009) DOI:10.1016/j.gde.2008.11.008 /// ENTRY 2121v1 Variant NAME EVC mutation GENE EVC EvC ciliary complex subunit 1 [KO:K19605] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 604831 NETWORK nt06501 HH signaling DISEASE H00503 Ellis-van Creveld syndrome H02158 Weyers acrofacial dysostosis REFERENCE PMID:31781166 AUTHORS Sasai N, Toriyama M, Kondo T TITLE Hedgehog Signal and Genetic Disorders. JOURNAL Front Genet 10:1103 (2019) DOI:10.3389/fgene.2019.01103 REFERENCE PMID:19876929 AUTHORS Ruiz-Perez VL, Goodship JA TITLE Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands. JOURNAL Am J Med Genet C Semin Med Genet 151C:341-51 (2009) DOI:10.1002/ajmg.c.30226 /// ENTRY 2122v1 Variant NAME EVI1 overexpression GENE MECOM MDS1 and EVI1 complex locus [KO:K04462] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION overexpression NETWORK nt06218 TGFB signaling nt06276 Chronic myeloid leukemia DISEASE H00004 Chronic myeloid leukemia REFERENCE PMID:15156182 AUTHORS Mitani K. TITLE Molecular mechanisms of leukemogenesis by AML1/EVI-1. JOURNAL Oncogene 23:4263-9 (2004) DOI:10.1038/sj.onc.1207777 REFERENCE PMID:16484590 AUTHORS Dong M, Blobe GC. TITLE Role of transforming growth factor-beta in hematologic malignancies. JOURNAL Blood 107:4589-96 (2006) DOI:10.1182/blood-2005-10-4169 /// ENTRY 212v1 Variant NAME ALAS2 deficiency GENE ALAS2 5'-aminolevulinate synthase 2 [KO:K00643] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 301300 NETWORK nt06011 Heme biosynthesis DISEASE H01763 Porphyria REFERENCE PMID:18760763 AUTHORS Whatley SD, Ducamp S, Gouya L, Grandchamp B, Beaumont C, Badminton MN, Elder GH, Holme SA, Anstey AV, Parker M, Corrigall AV, Meissner PN, Hift RJ, Marsden JT, Ma Y, Mieli-Vergani G, Deybach JC, Puy H TITLE C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload. JOURNAL Am J Hum Genet 83:408-14 (2008) DOI:10.1016/j.ajhg.2008.08.003 /// ENTRY 2131v1 Variant NAME EXT1 mutation GENE EXT1 exostosin glycosyltransferase 1 [KO:K02366] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 608177 NETWORK nt06029 Glycosaminoglycan biosynthesis DISEASE H00122 Multiple exostoses REFERENCE PMID:8981950 AUTHORS Hecht JT, Hogue D, Wang Y, Blanton SH, Wagner M, Strong LC, Raskind W, Hansen MF, Wells D TITLE Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies. JOURNAL Am J Hum Genet 60:80-6 (1997) /// ENTRY 2132v1 Variant NAME EXT2 mutation GENE EXT2 exostosin glycosyltransferase 2 [KO:K02367] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 608210 NETWORK nt06029 Glycosaminoglycan biosynthesis DISEASE H00122 Multiple exostoses REFERENCE PMID:30288735 AUTHORS Gentile M, Agolini E, Cocciadiferro D, Ficarella R, Ponzi E, Bellacchio E, Antonucci MF, Novelli A TITLE Novel exostosin-2 missense variants in a family with autosomal recessive exostosin-2-related syndrome: further evidences on the phenotype. JOURNAL Clin Genet 95:165-171 (2019) DOI:10.1111/cge.13458 /// ENTRY 2137v1 Variant NAME EXTL3 mutation GENE EXTL3 exostosin like glycosyltransferase 3 [KO:K02370] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 605744 NETWORK nt06029 Glycosaminoglycan biosynthesis DISEASE H02491 Immunoskeletal dysplasia with neurodevelopmental abnormalities REFERENCE PMID:28132690 AUTHORS Oud MM, Tuijnenburg P, Hempel M, van Vlies N, Ren Z, Ferdinandusse S, Jansen MH, Santer R, Johannsen J, Bacchelli C, Alders M, Li R, Davies R, Dupuis L, Cale CM, Wanders RJA, Pals ST, Ocaka L, James C, Muller I, Lehmberg K, Strom T, Engels H, Williams HJ, Beales P, Roepman R, Dias P, Brunner HG, Cobben JM, Hall C, Hartley T, Le Quesne Stabej P, Mendoza-Londono R, Davies EG, de Sousa SB, Lessel D, Arts HH, Kuijpers TW TITLE Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome. JOURNAL Am J Hum Genet 100:281-296 (2017) DOI:10.1016/j.ajhg.2017.01.013 /// ENTRY 2146v1 Variant NAME EZH2 mutation GENE EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit [KO:K11430] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutation Y646F ClinVar: 76768 dbSNP: rs267601394 COSM: 37028 VARIATION mutation Y646N ClinVar: 376217 dbSNP: rs267601395 COSM: 37031 VARIATION mutation Y646H ClinVar: 76769 dbSNP: rs267601395 COSM: 37030 VARIATION mutation A682G ClinVar: 376219 dbSNP: rs1057519833 DRUG_TARGET Tazemetostat (DG03020): D11485 REFERENCE PMID:21796119 AUTHORS Morin RD, Mendez-Lago M, Mungall AJ, Goya R, Mungall KL, Corbett RD, Johnson NA, Severson TM, Chiu R, Field M, Jackman S, Krzywinski M, Scott DW, Trinh DL, Tamura-Wells J, Li S, Firme MR, Rogic S, Griffith M, Chan S, Yakovenko O, Meyer IM, Zhao EY, Smailus D, Moksa M, Chittaranjan S, Rimsza L, Brooks-Wilson A, Spinelli JJ, Ben-Neriah S, Meissner B, Woolcock B, Boyle M, McDonald H, Tam A, Zhao Y, Delaney A, Zeng T, Tse K, Butterfield Y, Birol I, Holt R, Schein J, Horsman DE, Moore R, Jones SJ, Connors JM, Hirst M, Gascoyne RD, Marra MA TITLE Frequent mutation of histone-modifying genes in non-Hodgkin lymphoma. JOURNAL Nature 476:298-303 (2011) DOI:10.1038/nature10351 REFERENCE PMID:24052547 AUTHORS Bodor C, Grossmann V, Popov N, Okosun J, O'Riain C, Tan K, Marzec J, Araf S, Wang J, Lee AM, Clear A, Montoto S, Matthews J, Iqbal S, Rajnai H, Rosenwald A, Ott G, Campo E, Rimsza LM, Smeland EB, Chan WC, Braziel RM, Staudt LM, Wright G, Lister TA, Elemento O, Hills R, Gribben JG, Chelala C, Matolcsy A, Kohlmann A, Haferlach T, Gascoyne RD, Fitzgibbon J TITLE EZH2 mutations are frequent and represent an early event in follicular lymphoma. JOURNAL Blood 122:3165-8 (2013) DOI:10.1182/blood-2013-04-496893 REFERENCE PMID:29650362 AUTHORS Italiano A, Soria JC, Toulmonde M, Michot JM, Lucchesi C, Varga A, Coindre JM, Blakemore SJ, Clawson A, Suttle B, McDonald AA, Woodruff M, Ribich S, Hedrick E, Keilhack H, Thomson B, Owa T, Copeland RA, Ho PTC, Ribrag V TITLE Tazemetostat, an EZH2 inhibitor, in relapsed or refractory B-cell non-Hodgkin lymphoma and advanced solid tumours: a first-in-human, open-label, phase 1 study. JOURNAL Lancet Oncol 19:649-659 (2018) DOI:10.1016/S1470-2045(18)30145-1 REFERENCE PMID:33035457 AUTHORS Morschhauser F, Tilly H, Chaidos A, McKay P, Phillips T, Assouline S, Batlevi CL, Campbell P, Ribrag V, Damaj GL, Dickinson M, Jurczak W, Kazmierczak M, Opat S, Radford J, Schmitt A, Yang J, Whalen J, Agarwal S, Adib D, Salles G TITLE Tazemetostat for patients with relapsed or refractory follicular lymphoma: an open-label, single-arm, multicentre, phase 2 trial. JOURNAL Lancet Oncol 21:1433-1442 (2020) DOI:10.1016/S1470-2045(20)30441-1 /// ENTRY 2146v2 Variant NAME EZH2 mutation GENE EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit [KO:K11430] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 601573 NETWORK nt06523 Epigenetic regulation by Polycomb complexes DISEASE H01751 Weaver syndrome REFERENCE PMID:22177091 AUTHORS Gibson WT, Hood RL, Zhan SH, Bulman DE, Fejes AP, Moore R, Mungall AJ, Eydoux P, Babul-Hirji R, An J, Marra MA, Chitayat D, Boycott KM, Weaver DD, Jones SJ TITLE Mutations in EZH2 cause Weaver syndrome. JOURNAL Am J Hum Genet 90:110-8 (2012) DOI:10.1016/j.ajhg.2011.11.018 /// ENTRY 2147v1 Variant NAME Prothrombin 20210A GENE F2 coagulation factor II, thrombin [KO:K01313] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutation 20210G-A ClinVar: 13310 dbSNP: rs1799963 REFERENCE PMID:9531249 AUTHORS Doggen CJ, Cats VM, Bertina RM, Rosendaal FR TITLE Interaction of coagulation defects and cardiovascular risk factors: increased risk of myocardial infarction associated with factor V Leiden or prothrombin 20210A. JOURNAL Circulation 97:1037-41 (1998) DOI:10.1161/01.CIR.97.11.1037 /// ENTRY 2147v2 Variant NAME F2 mutation GENE F2 coagulation factor II, thrombin [KO:K01313] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 176930 NETWORK nt06514 Coagulation cascade DISEASE H00223 Inherited thrombophilia H01254 Congenital prothrombin deficiency REFERENCE PMID:31577252 AUTHORS Dautaj A, Krasi G, Bushati V, Precone V, Gheza M, Fioretti F, Sartori M, Costantini A, Benedetti S, Bertelli M TITLE Hereditary thrombophilia. JOURNAL Acta Biomed 90:44-46 (2019) DOI:10.23750/abm.v90i10-S.8758 REFERENCE PMID:32623564 AUTHORS Zhang Y, Zhang Z, Shu S, Niu W, Xie W, Wan J, Zhai Z, Wang C TITLE The genetics of venous thromboembolism: a systematic review of thrombophilia families. JOURNAL J Thromb Thrombolysis 51:359-369 (2021) DOI:10.1007/s11239-020-02203-7 /// ENTRY 2153v1 Variant NAME Factor V Leiden GENE F5 coagulation factor V [KO:K03902] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutation R534Q ClinVar: 642 dbSNP: rs6025 REFERENCE PMID:8164741 AUTHORS Bertina RM, Koeleman BP, Koster T, Rosendaal FR, Dirven RJ, de Ronde H, van der Velden PA, Reitsma PH TITLE Mutation in blood coagulation factor V associated with resistance to activated protein C. JOURNAL Nature 369:64-7 (1994) DOI:10.1038/369064a0 /// ENTRY 2153v2 Variant NAME F5 mutation GENE F5 coagulation factor V [KO:K03902] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 612309 NETWORK nt06514 Coagulation cascade DISEASE H00220 Factor V deficiency H00223 Inherited thrombophilia H01433 Budd-Chiari syndrome REFERENCE PMID:32623564 AUTHORS Zhang Y, Zhang Z, Shu S, Niu W, Xie W, Wan J, Zhai Z, Wang C TITLE The genetics of venous thromboembolism: a systematic review of thrombophilia families. JOURNAL J Thromb Thrombolysis 51:359-369 (2021) DOI:10.1007/s11239-020-02203-7 REFERENCE PMID:7590506 AUTHORS De Stefano V, Leone G TITLE Resistance to activated protein C due to mutated factor V as a novel cause of inherited thrombophilia. JOURNAL Haematologica 80:344-56 (1995) REFERENCE PMID:11001884 AUTHORS Janssen HL, Meinardi JR, Vleggaar FP, van Uum SH, Haagsma EB, van Der Meer FJ, van Hattum J, Chamuleau RA, Adang RP, Vandenbroucke JP, van Hoek B, Rosendaal FR TITLE Factor V Leiden mutation, prothrombin gene mutation, and deficiencies in coagulation inhibitors associated with Budd-Chiari syndrome and portal vein thrombosis: results of a case-control study. JOURNAL Blood 96:2364-8 (2000) /// ENTRY 2155v1 Variant NAME F7 mutation GENE F7 coagulation factor VII [KO:K01320] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 613878 NETWORK nt06514 Coagulation cascade DISEASE H01730 Myocardial infarction H02256 Factor VII deficiency REFERENCE PMID:28350321 AUTHORS Napolitano M, Siragusa S, Mariani G TITLE Factor VII Deficiency: Clinical Phenotype, Genotype and Therapy. JOURNAL J Clin Med 6:E38 (2017) DOI:10.3390/jcm6040038 REFERENCE PMID:10984565 AUTHORS Girelli D, Russo C, Ferraresi P, Olivieri O, Pinotti M, Friso S, Manzato F, Mazzucco A, Bernardi F, Corrocher R TITLE Polymorphisms in the factor VII gene and the risk of myocardial infarction in patients with coronary artery disease. JOURNAL N Engl J Med 343:774-80 (2000) DOI:10.1056/NEJM200009143431104 /// ENTRY 2157v1 Variant NAME F8 mutation GENE F8 coagulation factor VIII [KO:K03899] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 300841 NETWORK nt06514 Coagulation cascade DISEASE H00219 Hemophilia DRUG_TARGET Valoctocogene roxaparvovec: D12434 REFERENCE PMID:34168126 AUTHORS Berntorp E, Fischer K, Hart DP, Mancuso ME, Stephensen D, Shapiro AD, Blanchette V TITLE Haemophilia. JOURNAL Nat Rev Dis Primers 7:45 (2021) DOI:10.1038/s41572-021-00278-x /// ENTRY 2158v1 Variant NAME F9 mutation GENE F9 coagulation factor IX [KO:K01321] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 300746 NETWORK nt06514 Coagulation cascade DISEASE H00219 Hemophilia H00223 Inherited thrombophilia REFERENCE PMID:34168126 AUTHORS Berntorp E, Fischer K, Hart DP, Mancuso ME, Stephensen D, Shapiro AD, Blanchette V TITLE Haemophilia. JOURNAL Nat Rev Dis Primers 7:45 (2021) DOI:10.1038/s41572-021-00278-x REFERENCE PMID:31577252 AUTHORS Dautaj A, Krasi G, Bushati V, Precone V, Gheza M, Fioretti F, Sartori M, Costantini A, Benedetti S, Bertelli M TITLE Hereditary thrombophilia. JOURNAL Acta Biomed 90:44-46 (2019) DOI:10.23750/abm.v90i10-S.8758 /// ENTRY 2159v1 Variant NAME F10 mutation GENE F10 coagulation factor X [KO:K01314] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 613872 NETWORK nt06514 Coagulation cascade DISEASE H02257 Factor X deficiency REFERENCE PMID:12127953 AUTHORS Uprichard J, Perry DJ TITLE Factor X deficiency. JOURNAL Blood Rev 16:97-110 (2002) DOI:10.1054/blre.2002.0191 /// ENTRY 2160v1 Variant NAME F11 mutation GENE F11 coagulation factor XI [KO:K01323] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 264900 NETWORK nt06514 Coagulation cascade DISEASE H00938 Factor XI deficiency REFERENCE PMID:19630775 AUTHORS Seligsohn U TITLE Factor XI deficiency in humans. JOURNAL J Thromb Haemost 7 Suppl 1:84-7 (2009) DOI:10.1111/j.1538-7836.2009.03395.x /// ENTRY 2161v1 Variant NAME F12 mutation GENE F12 coagulation factor XII [KO:K01328] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 610619 NETWORK nt06514 Coagulation cascade DISEASE H00941 Factor XII deficiency H01006 Hereditary angioedema REFERENCE PMID:30656274 AUTHORS Levi M, Cohn DM, Zeerleder S TITLE Hereditary angioedema: Linking complement regulation to the coagulation system. JOURNAL Res Pract Thromb Haemost 3:38-43 (2019) DOI:10.1002/rth2.12175 REFERENCE PMID:35675023 AUTHORS Chou SC, Lin CY, Lin HY, Pai CH, Yu CY, Kuo SF, Lin JS, Lin PT, Hung MH, Hsieh HN, Liu HC, Shen MC TITLE Characterization of congenital factor XII deficiency in Taiwanese patients: identification of one novel and one common mutation. JOURNAL Int J Hematol 10.1007/s12185-022-03390-0 (2022) DOI:10.1007/s12185-022-03390-0 /// ENTRY 2162v1 Variant NAME F13A1 mutation GENE F13A1 coagulation factor XIII A chain [KO:K03917] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 134570 NETWORK nt06514 Coagulation cascade DISEASE H00945 Factor XIII deficiency H01730 Myocardial infarction REFERENCE PMID:9028951 AUTHORS Mikkola H, Muszbek L, Laiho E, Syrjala M, Hamalainen E, Haramura G, Salmi T, Peltonen L, Palotie A TITLE Molecular mechanism of a mild phenotype in coagulation factor XIII (FXIII) deficiency: a splicing mutation permitting partial correct splicing of FXIII A-subunit mRNA. JOURNAL Blood 89:1279-87 (1997) REFERENCE PMID:30972713 AUTHORS Ambroziak M, Kurylowicz A, Budaj A TITLE Increased coagulation factor XIII activity but not genetic variants of coagulation factors is associated with myocardial infarction in young patients. JOURNAL J Thromb Thrombolysis 48:519-527 (2019) DOI:10.1007/s11239-019-01856-3 /// ENTRY 2165v1 Variant NAME F13B mutation GENE F13B coagulation factor XIII B chain [KO:K03906] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 134580 NETWORK nt06514 Coagulation cascade DISEASE H00945 Factor XIII deficiency REFERENCE PMID:19141159 AUTHORS Hsieh L, Nugent D TITLE Factor XIII deficiency. JOURNAL Haemophilia 14:1190-200 (2008) DOI:10.1111/j.1365-2516.2008.01857.x /// ENTRY 2175v1 Variant NAME FANCA mutation GENE FANCA FA complementation group A [KO:K10888] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 607139 NETWORK nt06508 Interstrand crosslink repair DISEASE H00238 Fanconi anemia REFERENCE PMID:10094191 AUTHORS Wijker M, Morgan NV, Herterich S, van Berkel CG, Tipping AJ, Gross HJ, Gille JJ, Pals G, Savino M, Altay C, Mohan S, Dokal I, Cavenagh J, Marsh J, van Weel M, Ortega JJ, Schuler D, Samochatova E, Karwacki M, Bekassy AN, Abecasis M, Ebell W, Kwee ML, de Ravel T, CG Mathew, et al. TITLE Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene. JOURNAL Eur J Hum Genet 7:52-9 (1999) DOI:10.1038/sj.ejhg.5200248 /// ENTRY 2176v1 Variant NAME FANCC mutation GENE FANCC FA complementation group C [KO:K10890] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 613899 NETWORK nt06508 Interstrand crosslink repair DISEASE H00238 Fanconi anemia REFERENCE PMID:8103176 AUTHORS Murer-Orlando M, Llerena JC Jr, Birjandi F, Gibson RA, Mathew CG TITLE FACC gene mutations and early prenatal diagnosis of Fanconi's anaemia. JOURNAL Lancet 342:686 (1993) DOI:10.1016/0140-6736(93)91800-2 /// ENTRY 2177v1 Variant NAME FANCD2 mutation GENE FANCD2 FA complementation group D2 [KO:K10891] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 613984 NETWORK nt06508 Interstrand crosslink repair DISEASE H00238 Fanconi anemia REFERENCE PMID:11239453 AUTHORS Timmers C, Taniguchi T, Hejna J, Reifsteck C, Lucas L, Bruun D, Thayer M, Cox B, Olson S, D'Andrea AD, Moses R, Grompe M TITLE Positional cloning of a novel Fanconi anemia gene, FANCD2. JOURNAL Mol Cell 7:241-8 (2001) DOI:10.1016/S1097-2765(01)00172-1 /// ENTRY 2178v1 Variant NAME FANCE mutation GENE FANCE FA complementation group E [KO:K10892] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 613976 NETWORK nt06508 Interstrand crosslink repair DISEASE H00238 Fanconi anemia REFERENCE PMID:10205272 AUTHORS Waisfisz Q, Saar K, Morgan NV, Altay C, Leegwater PA, de Winter JP, Komatsu K, Evans GR, Wegner RD, Reis A, Joenje H, Arwert F, Mathew CG, Pronk JC, Digweed M TITLE The Fanconi anemia group E gene, FANCE, maps to chromosome 6p. JOURNAL Am J Hum Genet 64:1400-5 (1999) DOI:10.1086/302385 REFERENCE PMID:11001585 AUTHORS de Winter JP, Leveille F, van Berkel CG, Rooimans MA, van Der Weel L, Steltenpool J, Demuth I, Morgan NV, Alon N, Bosnoyan-Collins L, Lightfoot J, Leegwater PA, Waisfisz Q, Komatsu K, Arwert F, Pronk JC, Mathew CG, Digweed M, Buchwald M, Joenje H TITLE Isolation of a cDNA representing the Fanconi anemia complementation group E gene. JOURNAL Am J Hum Genet 67:1306-8 (2000) DOI:10.1016/S0002-9297(07)62959-0 /// ENTRY 2182v1 Variant NAME ACSL4 mutation GENE ACSL4 acyl-CoA synthetase long chain family member 4 [KO:K01897] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 300157 NETWORK nt06525 Ferroptosis DISEASE H00480 X-linked intellectual developmental disorder REFERENCE PMID:11889465 AUTHORS Meloni I, Muscettola M, Raynaud M, Longo I, Bruttini M, Moizard MP, Gomot M, Chelly J, des Portes V, Fryns JP, Ropers HH, Magi B, Bellan C, Volpi N, Yntema HG, Lewis SE, Schaffer JE, Renieri A TITLE FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation. JOURNAL Nat Genet 30:436-40 (2002) DOI:10.1038/ng857 REFERENCE PMID:27842070 AUTHORS Doll S, Proneth B, Tyurina YY, Panzilius E, Kobayashi S, Ingold I, Irmler M, Beckers J, Aichler M, Walch A, Prokisch H, Trumbach D, Mao G, Qu F, Bayir H, Fullekrug J, Scheel CH, Wurst W, Schick JA, Kagan VE, Angeli JP, Conrad M TITLE ACSL4 dictates ferroptosis sensitivity by shaping cellular lipid composition. JOURNAL Nat Chem Biol 13:91-98 (2017) DOI:10.1038/nchembio.2239 REFERENCE PMID:33444733 AUTHORS Cui Y, Zhang Y, Zhao X, Shao L, Liu G, Sun C, Xu R, Zhang Z TITLE ACSL4 exacerbates ischemic stroke by promoting ferroptosis-induced brain injury and neuroinflammation. JOURNAL Brain Behav Immun 93:312-321 (2021) DOI:10.1016/j.bbi.2021.01.003 /// ENTRY 2184v1 Variant NAME FAH deficiency GENE FAH fumarylacetoacetate hydrolase [KO:K01555] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 613871 NETWORK nt06016 Phenylalanine and tyrosine metabolism DISEASE H00165 Tyrosinemia REFERENCE PMID:12203990 AUTHORS Arranz JA, Pinol F, Kozak L, Perez-Cerda C, Cormand B, Ugarte M, Riudor E TITLE Splicing mutations, mainly IVS6-1(G>T), account for 70% of fumarylacetoacetate hydrolase (FAH) gene alterations, including 7 novel mutations, in a survey of 29 tyrosinemia type I patients. JOURNAL Hum Mutat 20:180-8 (2002) DOI:10.1002/humu.10084 /// ENTRY 2187v1 Variant NAME FANCB mutation GENE FANCB FA complementation group B [KO:K10889] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 300515 NETWORK nt06508 Interstrand crosslink repair DISEASE H00238 Fanconi anemia REFERENCE PMID:15502827 AUTHORS Meetei AR, Levitus M, Xue Y, Medhurst AL, Zwaan M, Ling C, Rooimans MA, Bier P, Hoatlin M, Pals G, de Winter JP, Wang W, Joenje H TITLE X-linked inheritance of Fanconi anemia complementation group B. JOURNAL Nat Genet 36:1219-24 (2004) DOI:10.1038/ng1458 /// ENTRY 2188v1 Variant NAME FANCF mutation GENE FANCF FA complementation group F [KO:K10893] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 613897 NETWORK nt06508 Interstrand crosslink repair DISEASE H00238 Fanconi anemia REFERENCE PMID:27714961 AUTHORS Tryon R, Zierhut H, MacMillan ML, Wagner JE TITLE Phenotypic variability in patients with Fanconi anemia and biallelic FANCF mutations. JOURNAL Am J Med Genet A 173:260-263 (2017) DOI:10.1002/ajmg.a.37998 /// ENTRY 2189v1 Variant NAME FANCG mutation GENE FANCG FA complementation group G [KO:K10894] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 602956 NETWORK nt06508 Interstrand crosslink repair DISEASE H00238 Fanconi anemia REFERENCE PMID:11093276 AUTHORS Demuth I, Wlodarski M, Tipping AJ, Morgan NV, de Winter JP, Thiel M, Grasl S, Schindler D, D'Andrea AD, Altay C, Kayserili H, Zatterale A, Kunze J, Ebell W, Mathew CG, Joenje H, Sperling K, Digweed M TITLE Spectrum of mutations in the Fanconi anaemia group G gene, FANCG/XRCC9. JOURNAL Eur J Hum Genet 8:861-8 (2000) DOI:10.1038/sj.ejhg.5200552 /// ENTRY 2200v1 Variant NAME FBN1 mutation GENE FBN1 fibrillin 1 [KO:K06825] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 134797 NETWORK nt06507 TGFB signaling DISEASE H00653 Marfan syndrome H00900 Geleophysic dysplasia REFERENCE PMID:30037098 AUTHORS Takeda N, Hara H, Fujiwara T, Kanaya T, Maemura S, Komuro I TITLE TGF-beta Signaling-Related Genes and Thoracic Aortic Aneurysms and Dissections. JOURNAL Int J Mol Sci 19:E2125 (2018) DOI:10.3390/ijms19072125 /// ENTRY 2218v1 Variant NAME FKTN deficiency GENE FKTN fukutin [KO:K19872] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 607440 NETWORK nt06013 O-Glycan biosynthesis DISEASE H02307 Muscular dystrophy-dystroglycanopathy REFERENCE PMID:14627679 AUTHORS de Bernabe DB, van Bokhoven H, van Beusekom E, Van den Akker W, Kant S, Dobyns WB, Cormand B, Currier S, Hamel B, Talim B, Topaloglu H, Brunner HG TITLE A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype. JOURNAL J Med Genet 40:845-8 (2003) DOI:10.1136/jmg.40.11.845 /// ENTRY 2224v1 Variant NAME FDPS deficiency GENE FDPS farnesyl diphosphate synthase [KO:K00787] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 134629 NETWORK nt06034 Cholesterol biosynthesis DISEASE H01933 Porokeratosis REFERENCE PMID:26202976 AUTHORS Zhang Z, Li C, Wu F, Ma R, Luan J, Yang F, Liu W, Wang L, Zhang S, Liu Y, Gu J, Hua W, Fan M, Peng H, Meng X, Song N, Bi X, Gu C, Zhang Z, Huang Q, Chen L, Xiang L, Xu J, Zheng Z, Jiang Z TITLE Genomic variations of the mevalonate pathway in porokeratosis. JOURNAL Elife 4:e06322 (2015) DOI:10.7554/eLife.06322 /// ENTRY 2235v1 Variant NAME FECH deficiency GENE FECH ferrochelatase [KO:K01772] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 612386 NETWORK nt06011 Heme biosynthesis DISEASE H01763 Porphyria REFERENCE PMID:7910885 AUTHORS Sarkany RP, Alexander GJ, Cox TM TITLE Recessive inheritance of erythropoietic protoporphyria with liver failure. JOURNAL Lancet 343:1394-6 (1994) DOI:10.1016/S0140-6736(94)92525-9 /// ENTRY 2243v1 Variant NAME FGA mutation GENE FGA fibrinogen alpha chain [KO:K03903] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 134820 NETWORK nt06514 Coagulation cascade DISEASE H00222 Afibrinogenemia H00845 Familial amyloidosis REFERENCE PMID:32623564 AUTHORS Zhang Y, Zhang Z, Shu S, Niu W, Xie W, Wan J, Zhai Z, Wang C TITLE The genetics of venous thromboembolism: a systematic review of thrombophilia families. JOURNAL J Thromb Thrombolysis 51:359-369 (2021) DOI:10.1007/s11239-020-02203-7 REFERENCE PMID:16855369 AUTHORS Neerman-Arbez M TITLE Molecular basis of fibrinogen deficiency. JOURNAL Pathophysiol Haemost Thromb 35:187-98 (2006) DOI:10.1159/000093566 REFERENCE PMID:27554450 AUTHORS Kell DB, Pretorius E TITLE Proteins behaving badly. Substoichiometric molecular control and amplification of the initiation and nature of amyloid fibril formation: lessons from and for blood clotting. JOURNAL Prog Biophys Mol Biol 123:16-41 (2017) DOI:10.1016/j.pbiomolbio.2016.08.006 /// ENTRY 2244v1 Variant NAME FGB mutation GENE FGB fibrinogen beta chain [KO:K03904] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 134830 NETWORK nt06514 Coagulation cascade DISEASE H00222 Afibrinogenemia REFERENCE PMID:32623564 AUTHORS Zhang Y, Zhang Z, Shu S, Niu W, Xie W, Wan J, Zhai Z, Wang C TITLE The genetics of venous thromboembolism: a systematic review of thrombophilia families. JOURNAL J Thromb Thrombolysis 51:359-369 (2021) DOI:10.1007/s11239-020-02203-7 REFERENCE PMID:16855369 AUTHORS Neerman-Arbez M TITLE Molecular basis of fibrinogen deficiency. JOURNAL Pathophysiol Haemost Thromb 35:187-98 (2006) DOI:10.1159/000093566 /// ENTRY 2253v1 Variant NAME FGF8 mutation GENE FGF8 fibroblast growth factor 8 [KO:K04358] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 600483 NETWORK nt06361 Hypogonadotropic hypogonadism nt06526 MAPK signaling DISEASE H00255 Hypogonadotropic hypogonadism REFERENCE PMID:20463092 AUTHORS Trarbach EB, Abreu AP, Silveira LF, Garmes HM, Baptista MT, Teles MG, Costa EM, Mohammadi M, Pitteloud N, Mendonca BB, Latronico AC TITLE Nonsense mutations in FGF8 gene causing different degrees of human gonadotropin-releasing deficiency. JOURNAL J Clin Endocrinol Metab 95:3491-6 (2010) DOI:10.1210/jc.2010-0176 REFERENCE PMID:21664428 AUTHORS Miraoui H, Dwyer A, Pitteloud N TITLE Role of fibroblast growth factor (FGF) signaling in the neuroendocrine control of human reproduction. JOURNAL Mol Cell Endocrinol 346:37-43 (2011) DOI:10.1016/j.mce.2011.05.042 /// ENTRY 2260v1 Variant NAME FGFR1 amplification GENE FGFR1 fibroblast growth factor receptor 1 [KO:K04362] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION amplification ClinVar: 59782 dbVar: nsv532311 NETWORK nt06210 ERK signaling nt06214 PI3K signaling nt06261 Gastric cancer nt06270 Breast cancer nt06526 MAPK signaling nt06530 PI3K signaling DISEASE H00018 Gastric cancer H00031 Breast cancer REFERENCE PMID:24265351 AUTHORS Dienstmann R, Rodon J, Prat A, Perez-Garcia J, Adamo B, Felip E, Cortes J, Iafrate AJ, Nuciforo P, Tabernero J TITLE Genomic aberrations in the FGFR pathway: opportunities for targeted therapies in solid tumors. JOURNAL Ann Oncol 25:552-63 (2014) DOI:10.1093/annonc/mdt419 REFERENCE PMID:20179196 AUTHORS Turner N, Pearson A, Sharpe R, Lambros M, Geyer F, Lopez-Garcia MA, Natrajan R, Marchio C, Iorns E, Mackay A, Gillett C, Grigoriadis A, Tutt A, Reis-Filho JS, Ashworth A TITLE FGFR1 amplification drives endocrine therapy resistance and is a therapeutic target in breast cancer. JOURNAL Cancer Res 70:2085-94 (2010) DOI:10.1158/0008-5472.CAN-09-3746 /// ENTRY 2260v2 Variant NAME FGFR1 mutation GENE FGFR1 fibroblast growth factor receptor 1 [KO:K04362] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 136350 NETWORK nt06361 Hypogonadotropic hypogonadism nt06526 MAPK signaling DISEASE H00255 Hypogonadotropic hypogonadism H01756 Pfeiffer syndrome H01988 Jackson-Weiss syndrome REFERENCE PMID:12627230 AUTHORS Dode C, Levilliers J, Dupont JM, De Paepe A, Le Du N, Soussi-Yanicostas N, Coimbra RS, Delmaghani S, Compain-Nouaille S, Baverel F, Pecheux C, Le Tessier D, Cruaud C, Delpech M, Speleman F, Vermeulen S, Amalfitano A, Bachelot Y, Bouchard P, Cabrol S, Carel JC, Delemarre-van de Waal H, Goulet-Salmon B, Kottler ML, Richard O, Sanchez-Franco F, Saura R, Young J, Petit C, Hardelin JP TITLE Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. JOURNAL Nat Genet 33:463-5 (2003) DOI:10.1038/ng1122 REFERENCE PMID:16882753 AUTHORS Trarbach EB, Costa EM, Versiani B, de Castro M, Baptista MT, Garmes HM, de Mendonca BB, Latronico AC TITLE Novel fibroblast growth factor receptor 1 mutations in patients with congenital hypogonadotropic hypogonadism with and without anosmia. JOURNAL J Clin Endocrinol Metab 91:4006-12 (2006) DOI:10.1210/jc.2005-2793 REFERENCE PMID:21664428 AUTHORS Miraoui H, Dwyer A, Pitteloud N TITLE Role of fibroblast growth factor (FGF) signaling in the neuroendocrine control of human reproduction. JOURNAL Mol Cell Endocrinol 346:37-43 (2011) DOI:10.1016/j.mce.2011.05.042 /// ENTRY 2261v1 Variant NAME FGFR3 mutation GENE FGFR3 fibroblast growth factor receptor 3 [KO:K05094] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutation S249C ClinVar: 16339 dbSNP: rs121913483 COSM: 715 VARIATION mutation G372C ClinVar: 16359 dbSNP: rs121913479 VARIATION mutation R248C ClinVar: 16332 dbSNP: rs12193482 COSM: 714 VARIATION mutation S371C ClinVar: 16333 dbSNP: rs121913484 VARIATION mutation Y373C ClinVar: 16342 dbSNP: rs121913485 COSM: 718 VARIATION mutation K650Q ClinVar: 16348 dbSNP: rs78311289 COSM: 726 NETWORK nt06210 ERK signaling nt06265 Bladder cancer nt06526 MAPK signaling DISEASE H00022 Bladder cancer REFERENCE PMID:21264819 AUTHORS Dodurga Y, Tataroglu C, Kesen Z, Satiroglu-Tufan NL TITLE Incidence of fibroblast growth factor receptor 3 gene (FGFR3) A248C, S249C, G372C, and T375C mutations in bladder cancer. JOURNAL Genet Mol Res 10:86-95 (2011) DOI:10.4238/vol10-1gmr923 REFERENCE PMID:15897885 AUTHORS Jebar AH, Hurst CD, Tomlinson DC, Johnston C, Taylor CF, Knowles MA TITLE FGFR3 and Ras gene mutations are mutually exclusive genetic events in urothelial cell carcinoma. JOURNAL Oncogene 24:5218-25 (2005) DOI:10.1038/sj.onc.1208705 /// ENTRY 2261v2 Variant NAME FGFR3 erdafitinib-susceptible variation GENE FGFR3 fibroblast growth factor receptor 3 [KO:K05094] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION FGFR3-TACC3 fusion, translocation t(4;4)(q16;q16) VARIATION FGFR3-BAIAP2L1 fusion, translocation t(4;7)(p16;q22) NETWORK nt06210 ERK signaling nt06265 Bladder cancer nt06526 MAPK signaling DISEASE H00022 Bladder cancer DRUG_TARGET Erdafitinib: D10927 REFERENCE PMID:31544541 AUTHORS Marandino L, Raggi D, Giannatempo P, Fare E, Necchi A TITLE Erdafitinib for the treatment of urothelial cancer. JOURNAL Expert Rev Anticancer Ther 19:835-846 (2019) DOI:10.1080/14737140.2019.1671190 REFERENCE PMID:31030123 AUTHORS Nadal R, Bellmunt J TITLE Management of metastatic bladder cancer. JOURNAL Cancer Treat Rev 76:10-21 (2019) DOI:10.1016/j.ctrv.2019.04.002 /// ENTRY 2261v4 Variant NAME FGFR3 mutation GENE FGFR3 fibroblast growth factor receptor 3 [KO:K05094] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 134934 NETWORK nt06526 MAPK signaling nt06530 PI3K signaling DISEASE H01754 Crouzon syndrome H01990 Muenke syndrome H02627 Epidermal nevus REFERENCE PMID:32879300 AUTHORS Xie Y, Su N, Yang J, Tan Q, Huang S, Jin M, Ni Z, Zhang B, Zhang D, Luo F, Chen H, Sun X, Feng JQ, Qi H, Chen L TITLE FGF/FGFR signaling in health and disease. JOURNAL Signal Transduct Target Ther 5:181 (2020) DOI:10.1038/s41392-020-00222-7 REFERENCE PMID:29044700 AUTHORS Asch S, Sugarman JL TITLE Epidermal nevus syndromes: New insights into whorls and swirls. JOURNAL Pediatr Dermatol 35:21-29 (2018) DOI:10.1111/pde.13273 /// ENTRY 2263v1 Variant NAME FGFR2 amplification GENE FGFR2 fibroblast growth factor receptor 2 [KO:K05093] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION amplification ClinVar: 396706 153718 148679 dbVar: nsv2774502 nsv995712 nsv868923 NETWORK nt06210 ERK signaling nt06214 PI3K signaling nt06261 Gastric cancer nt06270 Breast cancer nt06526 MAPK signaling nt06530 PI3K signaling DISEASE H00018 Gastric cancer H00031 Breast cancer DRUG_TARGET Infigratinib (DG03062): D11611 REFERENCE PMID:2377625 AUTHORS Hattori Y, Odagiri H, Nakatani H, Miyagawa K, Naito K, Sakamoto H, Katoh O, Yoshida T, Sugimura T, Terada M TITLE K-sam, an amplified gene in stomach cancer, is a member of the heparin-binding growth factor receptor genes. JOURNAL Proc Natl Acad Sci U S A 87:5983-7 (1990) DOI:10.1073/pnas.87.15.5983 REFERENCE PMID:26267324 AUTHORS Riquelme I, Saavedra K, Espinoza JA, Weber H, Garcia P, Nervi B, Garrido M, Corvalan AH, Roa JC, Bizama C TITLE Molecular classification of gastric cancer: Towards a pathway-driven targeted therapy. JOURNAL Oncotarget 6:24750-79 (2015) DOI:10.18632/oncotarget.4990 REFERENCE PMID:16997151 AUTHORS Vauhkonen M, Vauhkonen H, Sipponen P TITLE Pathology and molecular biology of gastric cancer. JOURNAL Best Pract Res Clin Gastroenterol 20:651-74 (2006) DOI:10.1016/j.bpg.2006.03.016 REFERENCE PMID:23696246 AUTHORS Katoh M, Nakagama H TITLE FGF receptors: cancer biology and therapeutics. JOURNAL Med Res Rev 34:280-300 (2014) DOI:10.1002/med.21288 /// ENTRY 2263v2 Variant NAME FGFR2 fusion GENE FGFR2 fibroblast growth factor receptor 2 [KO:K05093] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION FGFR2-BICC1 fusion, translocation t(10;10)(q21;q26) VARIATION FGFR2-CASP7 fusion, translocation t(10;10)(q25;q26) DRUG_TARGET Erdafitinib: D10927 Futibatinib: D11725 Infigratinib (DG03062): D11611 Pemigatinib: D11417 REFERENCE PMID:31544541 AUTHORS Marandino L, Raggi D, Giannatempo P, Fare E, Necchi A TITLE Erdafitinib for the treatment of urothelial cancer. JOURNAL Expert Rev Anticancer Ther 19:835-846 (2019) DOI:10.1080/14737140.2019.1671190 REFERENCE PMID:31030123 AUTHORS Nadal R, Bellmunt J TITLE Management of metastatic bladder cancer. JOURNAL Cancer Treat Rev 76:10-21 (2019) DOI:10.1016/j.ctrv.2019.04.002 /// ENTRY 2263v3 Variant NAME FGFR2 mutation GENE FGFR2 fibroblast growth factor receptor 2 [KO:K05093] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 176943 NETWORK nt06526 MAPK signaling DISEASE H01753 Antley-Bixler syndrome H01754 Crouzon syndrome H01755 Apert syndrome H01756 Pfeiffer syndrome H01988 Jackson-Weiss syndrome H01989 Beare-Stevenson syndrome H01991 Saethre-Chotzen syndrome REFERENCE PMID:32879300 AUTHORS Xie Y, Su N, Yang J, Tan Q, Huang S, Jin M, Ni Z, Zhang B, Zhang D, Luo F, Chen H, Sun X, Feng JQ, Qi H, Chen L TITLE FGF/FGFR signaling in health and disease. JOURNAL Signal Transduct Target Ther 5:181 (2020) DOI:10.1038/s41392-020-00222-7 REFERENCE PMID:30862318 AUTHORS Vogiatzi A, Mavrothalassitis G TITLE Craniofacial, orofacial and dental disorders: the role of the RAS/ERK pathway. JOURNAL Expert Rev Mol Med 21:e2 (2019) DOI:10.1017/erm.2019.2 /// ENTRY 2266v1 Variant NAME FGG mutation GENE FGG fibrinogen gamma chain [KO:K03905] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 134850 NETWORK nt06514 Coagulation cascade DISEASE H00222 Afibrinogenemia REFERENCE PMID:32623564 AUTHORS Zhang Y, Zhang Z, Shu S, Niu W, Xie W, Wan J, Zhai Z, Wang C TITLE The genetics of venous thromboembolism: a systematic review of thrombophilia families. JOURNAL J Thromb Thrombolysis 51:359-369 (2021) DOI:10.1007/s11239-020-02203-7 REFERENCE PMID:16855369 AUTHORS Neerman-Arbez M TITLE Molecular basis of fibrinogen deficiency. JOURNAL Pathophysiol Haemost Thromb 35:187-98 (2006) DOI:10.1159/000093566 /// ENTRY 226v1 Variant NAME ALDOA deficiency GENE ALDOA aldolase, fructose-bisphosphate A [KO:K01623] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 103850 NETWORK nt06017 Glycogen metabolism DISEASE H01952 Glycogen storage disease type XII REFERENCE PMID:2825199 AUTHORS Kishi H, Mukai T, Hirono A, Fujii H, Miwa S, Hori K TITLE Human aldolase A deficiency associated with a hemolytic anemia: thermolabile aldolase due to a single base mutation. JOURNAL Proc Natl Acad Sci U S A 84:8623-7 (1987) DOI:10.1073/pnas.84.23.8623 /// ENTRY 2271v1 Variant NAME FH deficiency GENE FH fumarate hydratase [KO:K01679] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 136850 NETWORK nt06031 Citrate cycle and pyruvate metabolism DISEASE H02004 Fumarase deficiency REFERENCE PMID:8200987 AUTHORS Bourgeron T, Chretien D, Poggi-Bach J, Doonan S, Rabier D, Letouze P, Munnich A, Rotig A, Landrieu P, Rustin P TITLE Mutation of the fumarase gene in two siblings with progressive encephalopathy and fumarase deficiency. JOURNAL J Clin Invest 93:2514-8 (1994) DOI:10.1172/JCI117261 /// ENTRY 22800v1 Variant NAME RRAS2 mutation GENE RRAS2 RAS related 2 [KO:K07830] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 600098 NETWORK nt06526 MAPK signaling DISEASE H01738 Noonan syndrome REFERENCE PMID:36394128 AUTHORS Tartaglia M, Aoki Y, Gelb BD TITLE The molecular genetics of RASopathies: An update on novel disease genes and new disorders. JOURNAL Am J Med Genet C Semin Med Genet 190:425-439 (2022) DOI:10.1002/ajmg.c.32012 /// ENTRY 22808v1 Variant NAME MRAS mutation GENE MRAS muscle RAS oncogene homolog [KO:K07831] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 608435 NETWORK nt06526 MAPK signaling DISEASE H01738 Noonan syndrome REFERENCE PMID:36394128 AUTHORS Tartaglia M, Aoki Y, Gelb BD TITLE The molecular genetics of RASopathies: An update on novel disease genes and new disorders. JOURNAL Am J Med Genet C Semin Med Genet 190:425-439 (2022) DOI:10.1002/ajmg.c.32012 /// ENTRY 22845v1 Variant NAME DOLK deficiency GENE DOLK dolichol kinase [KO:K00902] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 610746 NETWORK nt06015 N-Glycan biosynthesis DISEASE H00118 Congenital disorders of glycosylation type I REFERENCE PMID:17273964 AUTHORS Kranz C, Jungeblut C, Denecke J, Erlekotte A, Sohlbach C, Debus V, Kehl HG, Harms E, Reith A, Reichel S, Grobe H, Hammersen G, Schwarzer U, Marquardt T TITLE A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy. JOURNAL Am J Hum Genet 80:433-40 (2007) DOI:10.1086/512130 /// ENTRY 22856v1 Variant NAME CHSY1 mutation GENE CHSY1 chondroitin sulfate synthase 1 [KO:K13499] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 608183 NETWORK nt06029 Glycosaminoglycan biosynthesis DISEASE H01497 Temtamy preaxial brachydactyly syndrome REFERENCE PMID:21129728 AUTHORS Li Y, Laue K, Temtamy S, Aglan M, Kotan LD, Yigit G, Canan H, Pawlik B, Nurnberg G, Wakeling EL, Quarrell OW, Baessmann I, Lanktree MB, Yilmaz M, Hegele RA, Amr K, May KW, Nurnberg P, Topaloglu AK, Hammerschmidt M, Wollnik B TITLE Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling. JOURNAL Am J Hum Genet 87:757-67 (2010) DOI:10.1016/j.ajhg.2010.10.003 /// ENTRY 22861v1 Variant NAME NLRP1 mutation GENE NLRP1 NLR family pyrin domain containing 1 [KO:K12798] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 606636 NETWORK nt06521 NLR signaling DISEASE H01372 Vitiligo H02588 NLRP1-associated autoinflammation with arthritis and dyskeratosis REFERENCE PMID:34635190 AUTHORS Masumoto J, Zhou W, Morikawa S, Hosokawa S, Taguchi H, Yamamoto T, Kurata M, Kaneko N TITLE Molecular biology of autoinflammatory diseases. JOURNAL Inflamm Regen 41:33 (2021) DOI:10.1186/s41232-021-00181-8 REFERENCE PMID:28722725 AUTHORS Manthiram K, Zhou Q, Aksentijevich I, Kastner DL TITLE The monogenic autoinflammatory diseases define new pathways in human innate immunity and inflammation. JOURNAL Nat Immunol 18:832-842 (2017) DOI:10.1038/ni.3777 REFERENCE PMID:23382179 AUTHORS Levandowski CB, Mailloux CM, Ferrara TM, Gowan K, Ben S, Jin Y, McFann KK, Holland PJ, Fain PR, Dinarello CA, Spritz RA TITLE NLRP1 haplotypes associated with vitiligo and autoimmunity increase interleukin-1beta processing via the NLRP1 inflammasome. JOURNAL Proc Natl Acad Sci U S A 110:2952-6 (2013) DOI:10.1073/pnas.1222808110 /// ENTRY 22900v1 Variant NAME CARD8 mutation GENE CARD8 caspase recruitment domain family member 8 [KO:K12801] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 609051 NETWORK nt06521 NLR signaling DISEASE H01227 Inflammatory bowel disease (IBD) REFERENCE PMID:30455704 AUTHORS Mao L, Kitani A, Strober W, Fuss IJ TITLE The Role of NLRP3 and IL-1beta in the Pathogenesis of Inflammatory Bowel Disease. JOURNAL Front Immunol 9:2566 (2018) DOI:10.3389/fimmu.2018.02566 REFERENCE PMID:29408806 AUTHORS Mao L, Kitani A, Similuk M, Oler AJ, Albenberg L, Kelsen J, Aktay A, Quezado M, Yao M, Montgomery-Recht K, Fuss IJ, Strober W TITLE Loss-of-function CARD8 mutation causes NLRP3 inflammasome activation and Crohn's disease. JOURNAL J Clin Invest 128:1793-1806 (2018) DOI:10.1172/JCI98642 /// ENTRY 22909v1 Variant NAME FAN1 mutation GENE FAN1 FANCD2 and FANCI associated nuclease 1 [KO:K15363] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 613534 NETWORK nt06508 Interstrand crosslink repair DISEASE H02577 Karyomegalic interstitial nephritis REFERENCE PMID:22772369 AUTHORS Zhou W, Otto EA, Cluckey A, Airik R, Hurd TW, Chaki M, Diaz K, Lach FP, Bennett GR, Gee HY, Ghosh AK, Natarajan S, Thongthip S, Veturi U, Allen SJ, Janssen S, Ramaswami G, Dixon J, Burkhalter F, Spoendlin M, Moch H, Mihatsch MJ, Verine J, Reade R, Soliman H, Godin M, Kiss D, Monga G, Mazzucco G, Amann K, Artunc F, Newland RC, Wiech T, Zschiedrich S, Huber TB, Friedl A, Slaats GG, Joles JA, Goldschmeding R, Washburn J, Giles RH, Levy S, Smogorzewska A, Hildebrandt F TITLE FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair. JOURNAL Nat Genet 44:910-5 (2012) DOI:10.1038/ng.2347 /// ENTRY 22948v1 Variant NAME CCT5 mutation GENE CCT5 chaperonin containing TCP1 subunit 5 [KO:K09497] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 610150 NETWORK nt06510 Telomere length regulation DISEASE H02580 Hereditary sensory neuropathy with spastic paraplegia REFERENCE PMID:16399879 AUTHORS Bouhouche A, Benomar A, Bouslam N, Chkili T, Yahyaoui M TITLE Mutation in the epsilon subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct5) gene causes autosomal recessive mutilating sensory neuropathy with spastic paraplegia. JOURNAL J Med Genet 43:441-3 (2006) DOI:10.1136/jmg.2005.039230 /// ENTRY 22953v1 Variant NAME P2RX2 mutation GENE P2RX2 purinergic receptor P2X 2 [KO:K05216] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 600844 NETWORK nt06528 Calcium signaling DISEASE H00604 Deafness, autosomal dominant REFERENCE PMID:23345450 AUTHORS Yan D, Zhu Y, Walsh T, Xie D, Yuan H, Sirmaci A, Fujikawa T, Wong AC, Loh TL, Du L, Grati M, Vlajkovic SM, Blanton S, Ryan AF, Chen ZY, Thorne PR, Kachar B, Tekin M, Zhao HB, Housley GD, King MC, Liu XZ TITLE Mutation of the ATP-gated P2X(2) receptor leads to progressive hearing loss and increased susceptibility to noise. JOURNAL Proc Natl Acad Sci U S A 110:2228-33 (2013) DOI:10.1073/pnas.1222285110 /// ENTRY 2308v1 Variant NAME PAX3-FOXO1 fusion GENE FOXO1 forkhead box O1 [KO:K07201] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION translocation t(2;13)(q35;q14) COSF: 248 343 NETWORK nt06240 Transcription DISEASE H00037 Rhabdomyosarcoma REFERENCE PMID:12951587 AUTHORS Helman LJ, Meltzer P. TITLE Mechanisms of sarcoma development. JOURNAL Nat Rev Cancer 3:685-94 (2003) DOI:10.1038/nrc1168 REFERENCE PMID:19734027 AUTHORS Thway K TITLE Pathology of soft tissue sarcomas. JOURNAL Clin Oncol (R Coll Radiol) 21:695-705 (2009) DOI:10.1016/j.clon.2009.07.016 /// ENTRY 23137v1 Variant NAME SMC5 mutation GENE SMC5 structural maintenance of chromosomes 5 [KO:K22803] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 609386 NETWORK nt06506 Double-strand break repair DISEASE H02639 Atelis syndrome REFERENCE PMID:36333305 AUTHORS Grange LJ, Reynolds JJ, Ullah F, Isidor B, Shearer RF, Latypova X, Baxley RM, Oliver AW, Ganesh A, Cooke SL, Jhujh SS, McNee GS, Hollingworth R, Higgs MR, Natsume T, Khan T, Martos-Moreno GA, Chupp S, Mathew CG, Parry D, Simpson MA, Nahavandi N, Yuksel Z, Drasdo M, Kron A, Vogt P, Jonasson A, Seth SA, Gonzaga-Jauregui C, Brigatti KW, Stegmann APA, Kanemaki M, Josifova D, Uchiyama Y, Oh Y, Morimoto A, Osaka H, Ammous Z, Argente J, Matsumoto N, Stumpel CTRM, Taylor AMR, Jackson AP, Bielinsky AK, Mailand N, Le Caignec C, Davis EE, Stewart GS TITLE Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy. JOURNAL Nat Commun 13:6664 (2022) DOI:10.1038/s41467-022-34349-8 /// ENTRY 2313v1 Variant NAME EWSR1-FLI1 fusion GENE FLI1 Fli-1 proto-oncogene, ETS transcription factor [KO:K09436] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION translocation t(11;22)(q24;q12) COSF: 166 168 179 NETWORK nt06240 Transcription DISEASE H00035 Ewing sarcoma REFERENCE PMID:12951587 AUTHORS Helman LJ, Meltzer P. TITLE Mechanisms of sarcoma development. JOURNAL Nat Rev Cancer 3:685-94 (2003) DOI:10.1038/nrc1168 REFERENCE PMID:19734027 AUTHORS Thway K TITLE Pathology of soft tissue sarcomas. JOURNAL Clin Oncol (R Coll Radiol) 21:695-705 (2009) DOI:10.1016/j.clon.2009.07.016 /// ENTRY 2322v1 Variant NAME FLT3 kinase domain mutation GENE FLT3 fms related receptor tyrosine kinase 3 [KO:K05092] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutation D835Y ClinVar: 16276 dbSNP: rs121913488 COSM: 783 VARIATION mutation D835H ClinVar: 16273 dbSNP: rs121913488 COSM: 785 VARIATION mutation D835V ClinVar: 16272 dbSNP: rs121909646 COSM: 784 VARIATION mutation D835E ClinVar: 375971 375972 dbSNP: rs121913487 COSM: 788 787 VARIATION mutation D835N ClinVar: 16274 dbSNP: rs121913488 COSM: 789 NETWORK nt06210 ERK signaling nt06214 PI3K signaling nt06219 JAK-STAT signaling nt06275 Acute myeloid leukemia nt06526 MAPK signaling nt06530 PI3K signaling DISEASE H00003 Acute myeloid leukemia DRUG_TARGET Gilteritinib (DG01948): D10800 Midostaurin: D05029 REFERENCE PMID:16236521 AUTHORS Steffen B, Muller-Tidow C, Schwable J, Berdel WE, Serve H. TITLE The molecular pathogenesis of acute myeloid leukemia. JOURNAL Crit Rev Oncol Hematol 56:195-221 (2005) DOI:10.1016/j.critrevonc.2004.10.012 REFERENCE PMID:12194988 AUTHORS Kelly LM, Gilliland DG. TITLE Genetics of myeloid leukemias. JOURNAL Annu Rev Genomics Hum Genet 3:179-98 (2002) DOI:10.1146/annurev.genom.3.032802.115046 REFERENCE PMID:16757428 AUTHORS Kiyoi H, Naoe T. TITLE Biology, clinical relevance, and molecularly targeted therapy in acute leukemia with FLT3 mutation. JOURNAL Int J Hematol 83:301-8 (2006) DOI:10.1532/IJH97.06071 /// ENTRY 2322v2 Variant NAME FLT3 internal tandem duplication (ITD) GENE FLT3 fms related receptor tyrosine kinase 3 [KO:K05092] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION FLT3-ITD ClinVar: 16270 NETWORK nt06210 ERK signaling nt06214 PI3K signaling nt06219 JAK-STAT signaling nt06275 Acute myeloid leukemia nt06526 MAPK signaling nt06530 PI3K signaling DISEASE H00003 Acute myeloid leukemia DRUG_TARGET Gilteritinib (DG01948): D10800 Midostaurin: D05029 Pexidartinib (DG02960): D11270 D11271 Quizartinib (DG01364): D09956 REFERENCE PMID:12951584 AUTHORS Stirewalt DL, Radich JP. TITLE The role of FLT3 in haematopoietic malignancies. JOURNAL Nat Rev Cancer 3:650-65 (2003) DOI:10.1038/nrc1169 REFERENCE PMID:17124058 AUTHORS Small D TITLE FLT3 mutations: biology and treatment. JOURNAL Hematology Am Soc Hematol Educ Program 178-84 (2006) DOI:10.1182/asheducation-2006.1.178 REFERENCE PMID:16236521 AUTHORS Steffen B, Muller-Tidow C, Schwable J, Berdel WE, Serve H. TITLE The molecular pathogenesis of acute myeloid leukemia. JOURNAL Crit Rev Oncol Hematol 56:195-221 (2005) DOI:10.1016/j.critrevonc.2004.10.012 REFERENCE PMID:12194988 AUTHORS Kelly LM, Gilliland DG. TITLE Genetics of myeloid leukemias. JOURNAL Annu Rev Genomics Hum Genet 3:179-98 (2002) DOI:10.1146/annurev.genom.3.032802.115046 /// ENTRY 23236v1 Variant NAME PLCB1 mutation GENE PLCB1 phospholipase C beta 1 [KO:K05858] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 607120 NETWORK nt06528 Calcium signaling DISEASE H00606 Early infantile epileptic encephalopathy REFERENCE PMID:26818157 AUTHORS Schoonjans AS, Meuwissen M, Reyniers E, Kooy F, Ceulemans B TITLE PLCB1 epileptic encephalopathies; Review and expansion of the phenotypic spectrum. JOURNAL Eur J Paediatr Neurol 20:474-9 (2016) DOI:10.1016/j.ejpn.2016.01.002 /// ENTRY 23310v1 Variant NAME NCAPD3 mutation GENE NCAPD3 non-SMC condensin II complex subunit D3 [KO:K11491] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 609276 NETWORK nt06512 Chromosome cohesion and segregation DISEASE H00269 Primary microcephaly REFERENCE PMID:27737959 AUTHORS Martin CA, Murray JE, Carroll P, Leitch A, Mackenzie KJ, Halachev M, Fetit AE, Keith C, Bicknell LS, Fluteau A, Gautier P, Hall EA, Joss S, Soares G, Silva J, Bober MB, Duker A, Wise CA, Quigley AJ, Phadke SR, Wood AJ, Vagnarelli P, Jackson AP TITLE Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis. JOURNAL Genes Dev 30:2158-2172 (2016) DOI:10.1101/gad.286351.116 /// ENTRY 23385v1 Variant NAME NCSTN mutation GENE NCSTN nicastrin [KO:K06171] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 605254 NETWORK nt06511 NOTCH signaling DISEASE H00681 Acne inversa REFERENCE PMID:20929727 AUTHORS Wang B, Yang W, Wen W, Sun J, Su B, Liu B, Ma D, Lv D, Wen Y, Qu T, Chen M, Sun M, Shen Y, Zhang X TITLE Gamma-secretase gene mutations in familial acne inversa. JOURNAL Science 330:1065 (2010) DOI:10.1126/science.1196284 /// ENTRY 23397v1 Variant NAME NCAPH mutation GENE NCAPH non-SMC condensin I complex subunit H [KO:K06676] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 602332 NETWORK nt06512 Chromosome cohesion and segregation DISEASE H00269 Primary microcephaly REFERENCE PMID:27737959 AUTHORS Martin CA, Murray JE, Carroll P, Leitch A, Mackenzie KJ, Halachev M, Fetit AE, Keith C, Bicknell LS, Fluteau A, Gautier P, Hall EA, Joss S, Soares G, Silva J, Bober MB, Duker A, Wise CA, Quigley AJ, Phadke SR, Wood AJ, Vagnarelli P, Jackson AP TITLE Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis. JOURNAL Genes Dev 30:2158-2172 (2016) DOI:10.1101/gad.286351.116 /// ENTRY 23435v1 Variant NAME TARDBP mutation GENE TARDBP TAR DNA binding protein [KO:K23600] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 605078 NETWORK nt06464 Amyotrophic lateral sclerosis nt06466 Pathways of neurodegeneration DISEASE H00058 Amyotrophic lateral sclerosis (ALS) REFERENCE PMID:29605155 AUTHORS Nguyen HP, Van Broeckhoven C, van der Zee J TITLE ALS Genes in the Genomic Era and their Implications for FTD. JOURNAL Trends Genet 34:404-423 (2018) DOI:10.1016/j.tig.2018.03.001 REFERENCE PMID:28852382 AUTHORS Khalil B, Lievens JC TITLE Mitochondrial quality control in amyotrophic lateral sclerosis: towards a common pathway? JOURNAL Neural Regen Res 12:1052-1061 (2017) DOI:10.4103/1673-5374.211179 /// ENTRY 23498v1 Variant NAME HAAO deficiency GENE HAAO 3-hydroxyanthranilate 3,4-dioxygenase [KO:K00452] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 604521 NETWORK nt06036 Lysine degradation DISEASE H02087 Vertebral, cardiac, renal, and limb defects syndrome REFERENCE PMID:28792876 AUTHORS Shi H, Enriquez A, Rapadas M, Martin EMMA, Wang R, Moreau J, Lim CK, Szot JO, Ip E, Hughes JN, Sugimoto K, Humphreys DT, McInerney-Leo AM, Leo PJ, Maghzal GJ, Halliday J, Smith J, Colley A, Mark PR, Collins F, Sillence DO, Winlaw DS, Ho JWK, Guillemin GJ, Brown MA, Kikuchi K, Thomas PQ, Stocker R, Giannoulatou E, Chapman G, Duncan EL, Sparrow DB, Dunwoodie SL TITLE NAD Deficiency, Congenital Malformations, and Niacin Supplementation. JOURNAL N Engl J Med 377:544-552 (2017) DOI:10.1056/NEJMoa1616361 /// ENTRY 23512v1 Variant NAME SUZ12 mutation GENE SUZ12 SUZ12 polycomb repressive complex 2 subunit [KO:K11463] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 606245 NETWORK nt06523 Epigenetic regulation by Polycomb complexes DISEASE H02522 Imagawa-Matsumoto syndrome REFERENCE PMID:30019515 AUTHORS Imagawa E, Albuquerque EVA, Isidor B, Mitsuhashi S, Mizuguchi T, Miyatake S, Takata A, Miyake N, Boguszewski MCS, Boguszewski CL, Lerario AM, Funari MA, Jorge AAL, Matsumoto N TITLE Novel SUZ12 mutations in Weaver-like syndrome. JOURNAL Clin Genet 94:461-466 (2018) DOI:10.1111/cge.13415 /// ENTRY 23516v1 Variant NAME SLC39A14 mutation GENE SLC39A14 solute carrier family 39 member 14 [KO:K14720] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 608736 NETWORK nt06525 Ferroptosis DISEASE H01938 Hypermanganesemia with dystonia REFERENCE PMID:30232769 AUTHORS Zeglam A, Abugrara A, Kabuka M TITLE Autosomal-recessive iron deficiency anemia, dystonia and hypermanganesemia caused by new variant mutation of the manganese transporter gene SLC39A14. JOURNAL Acta Neurol Belg 119:379-384 (2019) DOI:10.1007/s13760-018-1024-7 REFERENCE PMID:35641158 AUTHORS Wu K, Fei L, Wang X, Lei Y, Yu L, Xu W, Chen J, Zhu E, Zhong M, Huang M, Xi J, Yin F, Yan Z, Zhao X, Tang C, Patzak A, Liu X, Zheng Z TITLE ZIP14 is involved in iron deposition and triggers ferroptosis in diabetic nephropathy. JOURNAL Metallomics 14:mfac034 (2022) DOI:10.1093/mtomcs/mfac034 /// ENTRY 23533v1 Variant NAME PIK3R5 mutation GENE PIK3R5 phosphoinositide-3-kinase regulatory subunit 5 [KO:K21290] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 611317 NETWORK nt06530 PI3K signaling DISEASE H00848 Ataxia with ocular apraxia REFERENCE PMID:22065524 AUTHORS Al Tassan N, Khalil D, Shinwari J, Al Sharif L, Bavi P, Abduljaleel Z, Abu Dhaim N, Magrashi A, Bobis S, Ahmed H, Alahmed S, Bohlega S TITLE A missense mutation in PIK3R5 gene in a family with ataxia and oculomotor apraxia. JOURNAL Hum Mutat 33:351-4 (2012) DOI:10.1002/humu.21650 /// ENTRY 23556v1 Variant NAME PIGN deficiency GENE PIGN phosphatidylinositol glycan anchor biosynthesis class N [KO:K05285] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 606097 NETWORK nt06018 GPI-anchor biosynthesis DISEASE H01486 Multiple congenital anomalies-hypotonia-seizures syndrome REFERENCE PMID:21493957 AUTHORS Maydan G, Noyman I, Har-Zahav A, Neriah ZB, Pasmanik-Chor M, Yeheskel A, Albin-Kaplanski A, Maya I, Magal N, Birk E, Simon AJ, Halevy A, Rechavi G, Shohat M, Straussberg R, Basel-Vanagaite L TITLE Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN. JOURNAL J Med Genet 48:383-9 (2011) DOI:10.1136/jmg.2010.087114 /// ENTRY 23586v1 Variant NAME RIGI mutation GENE RIGI RNA sensor RIG-I [KO:K12646] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 609631 NETWORK nt06519 RLR signaling DISEASE H01571 Singleton-Merten syndrome REFERENCE PMID:34635190 AUTHORS Masumoto J, Zhou W, Morikawa S, Hosokawa S, Taguchi H, Yamamoto T, Kurata M, Kaneko N TITLE Molecular biology of autoinflammatory diseases. JOURNAL Inflamm Regen 41:33 (2021) DOI:10.1186/s41232-021-00181-8 REFERENCE PMID:28722725 AUTHORS Manthiram K, Zhou Q, Aksentijevich I, Kastner DL TITLE The monogenic autoinflammatory diseases define new pathways in human innate immunity and inflammation. JOURNAL Nat Immunol 18:832-842 (2017) DOI:10.1038/ni.3777 /// ENTRY 23594v1 Variant NAME ORC6 mutation GENE ORC6 origin recognition complex subunit 6 [KO:K02608] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 607213 NETWORK nt06509 DNA replication DISEASE H01889 Meier-Gorlin syndrome REFERENCE PMID:25691413 AUTHORS Shalev SA, Khayat M, Etty DS, Elpeleg O TITLE Further insight into the phenotype associated with a mutation in the ORC6 gene, causing Meier-Gorlin syndrome 3. JOURNAL Am J Med Genet A 167A:607-11 (2015) DOI:10.1002/ajmg.a.36906 /// ENTRY 23600v1 Variant NAME AMACR deficiency GENE AMACR alpha-methylacyl-CoA racemase [KO:K01796] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 604489 NETWORK nt06021 beta-Oxidation in peroxisome DISEASE H02099 Alpha-methylacyl-CoA racemase deficiency REFERENCE PMID:9584266 AUTHORS Sequeira JS, Vellodi A, Vanier MT, Clayton PT TITLE Niemann-Pick disease type C and defective peroxisomal beta-oxidation of branched-chain substrates. JOURNAL J Inherit Metab Dis 21:149-54 (1998) DOI:10.1023/A:1005395709826 /// ENTRY 23600v2 Variant NAME AMACR deficiency GENE AMACR alpha-methylacyl-CoA racemase [KO:K01796] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 604489 NETWORK nt06022 Bile acid biosynthesis DISEASE H00628 Congenital bile acid synthesis defect REFERENCE PMID:10655068 AUTHORS Ferdinandusse S, Denis S, Clayton PT, Graham A, Rees JE, Allen JT, McLean BN, Brown AY, Vreken P, Waterham HR, Wanders RJ TITLE Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy. JOURNAL Nat Genet 24:188-91 (2000) DOI:10.1038/72861 /// ENTRY 238v1 Variant NAME EML4-ALK fusion GENE ALK ALK receptor tyrosine kinase [KO:K05119] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION inversion inv(2)(p21p23) COSF: 473 463 474 NETWORK nt06210 ERK signaling nt06214 PI3K signaling nt06219 JAK-STAT signaling nt06220 Calcium signaling nt06266 Non-small cell lung cancer nt06528 Calcium signaling nt06530 PI3K signaling DISEASE H00014 Non-small cell lung cancer H00042 Glioma DRUG_TARGET Crizotinib: D09731 REFERENCE PMID:26755435 AUTHORS Bayliss R, Choi J, Fennell DA, Fry AM, Richards MW TITLE Molecular mechanisms that underpin EML4-ALK driven cancers and their response to targeted drugs. JOURNAL Cell Mol Life Sci 73:1209-24 (2016) DOI:10.1007/s00018-015-2117-6 REFERENCE PMID:17625570 AUTHORS Soda M, Choi YL, Enomoto M, Takada S, Yamashita Y, Ishikawa S, Fujiwara S, Watanabe H, Kurashina K, Hatanaka H, Bando M, Ohno S, Ishikawa Y, Aburatani H, Niki T, Sohara Y, Sugiyama Y, Mano H TITLE Identification of the transforming EML4-ALK fusion gene in non-small-cell lung cancer. JOURNAL Nature 448:561-6 (2007) DOI:10.1038/nature05945 /// ENTRY 238v2 Variant NAME First generation TKI-resistant ALK1 mutation GENE ALK ALK receptor tyrosine kinase [KO:K05119] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutation I1171T COSM: 4381100 VARIATION mutation C1156Y COSM: 99136 VARIATION mutation L1196M COSM: 99137 VARIATION mutation F1174L COSM: 28061 VARIATION mutation G1269A COSM: 1169707 VARIATION mutation G1202R COSM: 144250 4422789 VARIATION mutation S1206Y COSM: 144251 4422788 NETWORK nt06210 ERK signaling nt06214 PI3K signaling nt06219 JAK-STAT signaling nt06220 Calcium signaling nt06266 Non-small cell lung cancer nt06528 Calcium signaling nt06530 PI3K signaling DISEASE H00014 Non-small cell lung cancer H00042 Glioma DRUG_TARGET Alectinib (DG01625): D10450 Brigatinib: D10866 Ceritinib: D10551 Lorlatinib: D11012 REFERENCE PMID:26755435 AUTHORS Bayliss R, Choi J, Fennell DA, Fry AM, Richards MW TITLE Molecular mechanisms that underpin EML4-ALK driven cancers and their response to targeted drugs. JOURNAL Cell Mol Life Sci 73:1209-24 (2016) DOI:10.1007/s00018-015-2117-6 REFERENCE PMID:21030459 AUTHORS Sasaki T, Okuda K, Zheng W, Butrynski J, Capelletti M, Wang L, Gray NS, Wilner K, Christensen JG, Demetri G, Shapiro GI, Rodig SJ, Eck MJ, Janne PA TITLE The neuroblastoma-associated F1174L ALK mutation causes resistance to an ALK kinase inhibitor in ALK-translocated cancers. JOURNAL Cancer Res 70:10038-43 (2010) DOI:10.1158/0008-5472.CAN-10-2956 /// ENTRY 24137v1 Variant NAME KIF4A mutation GENE KIF4A kinesin family member 4A [KO:K10395] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 300521 NETWORK nt06512 Chromosome cohesion and segregation DISEASE H00480 X-linked intellectual developmental disorder REFERENCE PMID:24812067 AUTHORS Willemsen MH, Ba W, Wissink-Lindhout WM, de Brouwer AP, Haas SA, Bienek M, Hu H, Vissers LE, van Bokhoven H, Kalscheuer V, Nadif Kasri N, Kleefstra T TITLE Involvement of the kinesin family members KIF4A and KIF5C in intellectual disability and synaptic function. JOURNAL J Med Genet 51:487-94 (2014) DOI:10.1136/jmedgenet-2013-102182 /// ENTRY 246329v1 Variant NAME STAC3 mutation GENE STAC3 SH3 and cysteine rich domain 3 [KO:K23713] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 615521 NETWORK nt06528 Calcium signaling DISEASE H01810 Congenital myopathy REFERENCE PMID:30168660 AUTHORS Zaharieva IT, Sarkozy A, Munot P, Manzur A, O'Grady G, Rendu J, Malfatti E, Amthor H, Servais L, Urtizberea JA, Neto OA, Zanoteli E, Donkervoort S, Taylor J, Dixon J, Poke G, Foley AR, Holmes C, Williams G, Holder M, Yum S, Medne L, Quijano-Roy S, Romero NB, Faure J, Feng L, Bastaki L, Davis MR, Phadke R, Sewry CA, Bonnemann CG, Jungbluth H, Bachmann C, Treves S, Muntoni F TITLE STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility. JOURNAL Hum Mutat 39:1980-1994 (2018) DOI:10.1002/humu.23635 /// ENTRY 2475v1 Variant NAME mTOR mutation GENE MTOR mechanistic target of rapamycin kinase [KO:K07203] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 601231 NETWORK nt06522 mTOR signaling DISEASE H01251 Focal cortical dysplasia of Taylor H01928 Smith-Kingsmore syndrome REFERENCE PMID:27753196 AUTHORS Moosa S, Bohrer-Rabel H, Altmuller J, Beleggia F, Nurnberg P, Li Y, Yigit G, Wollnik B TITLE Smith-Kingsmore syndrome: A third family with the MTOR mutation c.5395G>A p.(Glu1799Lys) and evidence for paternal gonadal mosaicism. JOURNAL Am J Med Genet A 173:264-267 (2017) DOI:10.1002/ajmg.a.37999 REFERENCE PMID:25799227 AUTHORS Lim JS, Kim WI, Kang HC, Kim SH, Park AH, Park EK, Cho YW, Kim S, Kim HM, Kim JA, Kim J, Rhee H, Kang SG, Kim HD, Kim D, Kim DS, Lee JH TITLE Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy. JOURNAL Nat Med 21:395-400 (2015) DOI:10.1038/nm.3824 /// ENTRY 2488v1 Variant NAME FSHB mutation GENE FSHB follicle stimulating hormone subunit beta [KO:K05250] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 136530 NETWORK nt06323 KISS1-GnRH-LH/FSH-E2 signaling DISEASE H01253 Isolated follicle-stimulating hormone deficiency REFERENCE PMID:28392474 AUTHORS Zheng J, Mao J, Cui M, Liu Z, Wang X, Xiong S, Nie M, Wu X TITLE Novel FSHbeta mutation in a male patient with isolated FSH deficiency and infertility. JOURNAL Eur J Med Genet 60:335-339 (2017) DOI:10.1016/j.ejmg.2017.04.004 REFERENCE PMID:11299519 AUTHORS Layman LC TITLE Mutations in the follicle-stimulating hormone-beta (FSH beta) and FSH receptor genes in mice and humans. JOURNAL Semin Reprod Med 18:5-10 (2000) DOI:10.1055/s-2000-13470 REFERENCE PMID:10773385 AUTHORS Layman LC, McDonough PG TITLE Mutations of follicle stimulating hormone-beta and its receptor in human and mouse: genotype/phenotype. JOURNAL Mol Cell Endocrinol 161:9-17 (2000) DOI:10.1016/S0303-7207(99)00217-8 /// ENTRY 2495v1 Variant NAME FTH1 mutation GENE FTH1 ferritin heavy chain 1 [KO:K00522] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 134770 NETWORK nt06525 Ferroptosis DISEASE H00211 Hemochromatosis REFERENCE PMID:32959272 AUTHORS Tian Y, Lu J, Hao X, Li H, Zhang G, Liu X, Li X, Zhao C, Kuang W, Chen D, Zhu M TITLE FTH1 Inhibits Ferroptosis Through Ferritinophagy in the 6-OHDA Model of Parkinson's Disease. JOURNAL Neurotherapeutics 17:1796-1812 (2020) DOI:10.1007/s13311-020-00929-z /// ENTRY 249v1 Variant NAME ALPL deficiency GENE ALPL alkaline phosphatase, biomineralization associated [KO:K01077] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 171760 DRUG_TARGET Asfotase alfa: D10595 /// ENTRY 2512v1 Variant NAME FTL mutation GENE FTL ferritin light chain [KO:K13625] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 134790 NETWORK nt06525 Ferroptosis DISEASE H01779 Neuroferritinopathy REFERENCE PMID:33439270 AUTHORS Cozzi A, Santambrogio P, Ripamonti M, Rovida E, Levi S TITLE Pathogenic mechanism and modeling of neuroferritinopathy. JOURNAL Cell Mol Life Sci 78:3355-3367 (2021) DOI:10.1007/s00018-020-03747-w REFERENCE PMID:31587993 AUTHORS Cozzi A, Orellana DI, Santambrogio P, Rubio A, Cancellieri C, Giannelli S, Ripamonti M, Taverna S, Di Lullo G, Rovida E, Ferrari M, Forni GL, Fiorillo C, Broccoli V, Levi S TITLE Stem Cell Modeling of Neuroferritinopathy Reveals Iron as a Determinant of Senescence and Ferroptosis during Neuronal Aging. JOURNAL Stem Cell Reports 13:832-846 (2019) DOI:10.1016/j.stemcr.2019.09.002 /// ENTRY 2516v1 Variant NAME NR5A1 mutation GENE NR5A1 nuclear receptor subfamily 5 group A member 1 [KO:K08560] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 184757 NETWORK nt06310 CRH-ACTH-cortisol signaling DISEASE H02316 Adrenal insufficiency, NR5A1 related REFERENCE PMID:11038323 AUTHORS Biason-Lauber A, Schoenle EJ TITLE Apparently normal ovarian differentiation in a prepubertal girl with transcriptionally inactive steroidogenic factor 1 (NR5A1/SF-1) and adrenocortical insufficiency. JOURNAL Am J Hum Genet 67:1563-8 (2000) DOI:10.1086/316893 REFERENCE PMID:10369247 AUTHORS Achermann JC, Ito M, Ito M, Hindmarsh PC, Jameson JL TITLE A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans. JOURNAL Nat Genet 22:125-6 (1999) DOI:10.1038/9629 REFERENCE PMID:11932325 AUTHORS Achermann JC, Ozisik G, Ito M, Orun UA, Harmanci K, Gurakan B, Jameson JL TITLE Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor-1, in a dose-dependent manner. JOURNAL J Clin Endocrinol Metab 87:1829-33 (2002) DOI:10.1210/jcem.87.4.8376 /// ENTRY 2521v1 Variant NAME FUS mutation GENE FUS FUS RNA binding protein [KO:K13098] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 137070 NETWORK nt06464 Amyotrophic lateral sclerosis DISEASE H00058 Amyotrophic lateral sclerosis (ALS) REFERENCE PMID:29605155 AUTHORS Nguyen HP, Van Broeckhoven C, van der Zee J TITLE ALS Genes in the Genomic Era and their Implications for FTD. JOURNAL Trends Genet 34:404-423 (2018) DOI:10.1016/j.tig.2018.03.001 REFERENCE PMID:28852382 AUTHORS Khalil B, Lievens JC TITLE Mitochondrial quality control in amyotrophic lateral sclerosis: towards a common pathway? JOURNAL Neural Regen Res 12:1052-1061 (2017) DOI:10.4103/1673-5374.211179 /// ENTRY 2523v1 Variant NAME FUT1 H allele GENE FUT1 fucosyltransferase 1 (H blood group) [KO:K00718] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION polymorphism OmimVar: 211100 NETWORK nt06035 Blood group carbohydrate antigen biosynthesis REFERENCE PMID:2118655 AUTHORS Larsen RD, Ernst LK, Nair RP, Lowe JB TITLE Molecular cloning, sequence, and expression of a human GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase cDNA that can form the H blood group antigen. JOURNAL Proc Natl Acad Sci U S A 87:6674-8 (1990) DOI:10.1073/pnas.87.17.6674 /// ENTRY 2523v2 Variant NAME FUT1 Oh allele GENE FUT1 fucosyltransferase 1 (H blood group) [KO:K00718] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION polymorphism OmimVar: 211100 NETWORK nt06035 Blood group carbohydrate antigen biosynthesis REFERENCE PMID:2118655 AUTHORS Larsen RD, Ernst LK, Nair RP, Lowe JB TITLE Molecular cloning, sequence, and expression of a human GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase cDNA that can form the H blood group antigen. JOURNAL Proc Natl Acad Sci U S A 87:6674-8 (1990) DOI:10.1073/pnas.87.17.6674 REFERENCE PMID:7912436 AUTHORS Kelly RJ, Ernst LK, Larsen RD, Bryant JG, Robinson JS, Lowe JB TITLE Molecular basis for H blood group deficiency in Bombay (Oh) and para-Bombay individuals. JOURNAL Proc Natl Acad Sci U S A 91:5843-7 (1994) DOI:10.1073/pnas.91.13.5843 /// ENTRY 2524v1 Variant NAME FUT2 Se allele GENE FUT2 fucosyltransferase 2 [KO:K00718] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION polymorphism OmimVar: 182100 NETWORK nt06035 Blood group carbohydrate antigen biosynthesis REFERENCE PMID:7876235 AUTHORS Kelly RJ, Rouquier S, Giorgi D, Lennon GG, Lowe JB TITLE Sequence and expression of a candidate for the human Secretor blood group alpha(1,2)fucosyltransferase gene (FUT2). Homozygosity for an enzyme-inactivating nonsense mutation commonly correlates with the non-secretor phenotype. JOURNAL J Biol Chem 270:4640-9 (1995) DOI:10.1074/jbc.270.9.4640 /// ENTRY 2524v2 Variant NAME FUT2 se allele GENE FUT2 fucosyltransferase 2 [KO:K00718] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION polymorphism OmimVar: 182100 NETWORK nt06035 Blood group carbohydrate antigen biosynthesis REFERENCE PMID:7876235 AUTHORS Kelly RJ, Rouquier S, Giorgi D, Lennon GG, Lowe JB TITLE Sequence and expression of a candidate for the human Secretor blood group alpha(1,2)fucosyltransferase gene (FUT2). Homozygosity for an enzyme-inactivating nonsense mutation commonly correlates with the non-secretor phenotype. JOURNAL J Biol Chem 270:4640-9 (1995) DOI:10.1074/jbc.270.9.4640 REFERENCE PMID:8755920 AUTHORS Koda Y, Soejima M, Liu Y, Kimura H TITLE Molecular basis for secretor type alpha(1,2)-fucosyltransferase gene deficiency in a Japanese population: a fusion gene generated by unequal crossover responsible for the enzyme deficiency. JOURNAL Am J Hum Genet 59:343-50 (1996) /// ENTRY 2525v1 Variant NAME FUT3 Le allele GENE FUT3 fucosyltransferase 3 (Lewis blood group) [KO:K00716] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION polymorphism OmimVar: 111100 NETWORK nt06035 Blood group carbohydrate antigen biosynthesis REFERENCE PMID:7961897 AUTHORS Nishihara S, Narimatsu H, Iwasaki H, Yazawa S, Akamatsu S, Ando T, Seno T, Narimatsu I TITLE Molecular genetic analysis of the human Lewis histo-blood group system. JOURNAL J Biol Chem 269:29271-8 (1994) DOI:10.1016/S0021-9258(19)62041-7 /// ENTRY 2525v2 Variant NAME FUT3 le allele GENE FUT3 fucosyltransferase 3 (Lewis blood group) [KO:K00716] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION polymorphism OmimVar: 111100 NETWORK nt06035 Blood group carbohydrate antigen biosynthesis REFERENCE PMID:7961897 AUTHORS Nishihara S, Narimatsu H, Iwasaki H, Yazawa S, Akamatsu S, Ando T, Seno T, Narimatsu I TITLE Molecular genetic analysis of the human Lewis histo-blood group system. JOURNAL J Biol Chem 269:29271-8 (1994) DOI:10.1016/S0021-9258(19)62041-7 /// ENTRY 2535v1 Variant NAME FZD2 mutation GENE FZD2 frizzled class receptor 2 [KO:K02235] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 600667 NETWORK nt06505 WNT signaling DISEASE H02154 Omodysplasia REFERENCE PMID:32328030 AUTHORS Huybrechts Y, Mortier G, Boudin E, Van Hul W TITLE WNT Signaling and Bone: Lessons From Skeletal Dysplasias and Disorders. JOURNAL Front Endocrinol (Lausanne) 11:165 (2020) DOI:10.3389/fendo.2020.00165 /// ENTRY 2538v1 Variant NAME G6PC deficiency GENE G6PC1 glucose-6-phosphatase catalytic subunit 1 [KO:K01084] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 613742 NETWORK nt06017 Glycogen metabolism DISEASE H01939 Glycogen storage disease type I REFERENCE PMID:10748407 AUTHORS Akanuma J, Nishigaki T, Fujii K, Matsubara Y, Inui K, Takahashi K, Kure S, Suzuki Y, Ohura T, Miyabayashi S, Ogawa E, Iinuma K, Okada S, Narisawa K TITLE Glycogen storage disease type Ia: molecular diagnosis of 51 Japanese patients and characterization of splicing mutations by analysis of ectopically transcribed mRNA from lymphoblastoid cells. JOURNAL Am J Med Genet 91:107-12 (2000) DOI:10.1002/(SICI)1096-8628(20000313)91:2<107::AID-AJMG5>3.0.CO;2-Y /// ENTRY 2539v1 Variant NAME G6PD deficiency GENE G6PD glucose-6-phosphate dehydrogenase [KO:K00036] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 305900 NETWORK nt06026 Glutathione biosynthesis DISEASE H01375 Glucose 6-phosphate dehydrogenase deficiency REFERENCE PMID:1999409 AUTHORS Beutler E, Kuhl W, Gelbart T, Forman L TITLE DNA sequence abnormalities of human glucose-6-phosphate dehydrogenase variants. JOURNAL J Biol Chem 266:4145-50 (1991) /// ENTRY 2542v1 Variant NAME SLC37A4 mutation GENE SLC37A4 solute carrier family 37 member 4 [KO:K08171] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 602671 NETWORK nt06017 Glycogen metabolism DISEASE H01939 Glycogen storage disease type I REFERENCE PMID:212064 AUTHORS Narisawa K, Igarashi Y, Otomo H, Tada K TITLE A new variant of glycogen storage disease type I probably due to a defect in the glucose-6-phosphate transport system. JOURNAL Biochem Biophys Res Commun 83:1360-4 (1978) DOI:10.1016/0006-291x(78)91371-2 REFERENCE PMID:9758626 AUTHORS Veiga-da-Cunha M, Gerin I, Chen YT, de Barsy T, de Lonlay P, Dionisi-Vici C, Fenske CD, Lee PJ, Leonard JV, Maire I, McConkie-Rosell A, Schweitzer S, Vikkula M, Van Schaftingen E TITLE A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic. JOURNAL Am J Hum Genet 63:976-83 (1998) DOI:10.1086/302068 /// ENTRY 254394v1 Variant NAME MCM9 mutation GENE MCM9 minichromosome maintenance 9 homologous recombination repair factor [KO:K10738] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 610098 NETWORK nt06508 Interstrand crosslink repair DISEASE H00599 Ovarian dysgenesis REFERENCE PMID:25480036 AUTHORS Wood-Trageser MA, Gurbuz F, Yatsenko SA, Jeffries EP, Kotan LD, Surti U, Ketterer DM, Matic J, Chipkin J, Jiang H, Trakselis MA, Topaloglu AK, Rajkovic A TITLE MCM9 mutations are associated with ovarian failure, short stature, and chromosomal instability. JOURNAL Am J Hum Genet 95:754-62 (2014) DOI:10.1016/j.ajhg.2014.11.002 /// ENTRY 2548v1 Variant NAME GAA deficiency GENE GAA alpha glucosidase [KO:K12316] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 606800 NETWORK nt06017 Glycogen metabolism DISEASE H01940 Glycogen storage disease type II DRUG_TARGET Alglucosidase alfa: D03207 Avalglucosidase alfa: D11744 REFERENCE PMID:20080426 AUTHORS Labrousse P, Chien YH, Pomponio RJ, Keutzer J, Lee NC, Akmaev VR, Scholl T, Hwu WL TITLE Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program. JOURNAL Mol Genet Metab 99:379-83 (2010) DOI:10.1016/j.ymgme.2009.12.014 /// ENTRY 255738v1 Variant NAME PCSK9 mutation GENE PCSK9 proprotein convertase subtilisin/kexin type 9 [KO:K13050] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 607786 NETWORK nt06320 APOB-LDLR signaling DISEASE H00155 Familial hypercholesterolemia REFERENCE PMID:24518357 AUTHORS Wu NQ, Li JJ TITLE PCSK9 gene mutations and low-density lipoprotein cholesterol. JOURNAL Clin Chim Acta 431:148-53 (2014) DOI:10.1016/j.cca.2014.01.043 REFERENCE PMID:23776352 AUTHORS De Castro-Oros I, Pocovi M, Civeira F TITLE The genetic basis of familial hypercholesterolemia: inheritance, linkage, and mutations. JOURNAL Appl Clin Genet 3:53-64 (2010) DOI:10.2147/TACG.S8285 REFERENCE PMID:12730697 AUTHORS Abifadel M, Varret M, Rabes JP, Allard D, Ouguerram K, Devillers M, Cruaud C, Benjannet S, Wickham L, Erlich D, Derre A, Villeger L, Farnier M, Beucler I, Bruckert E, Chambaz J, Chanu B, Lecerf JM, Luc G, Moulin P, Weissenbach J, Prat A, Krempf M, Junien C, Seidah NG, Boileau C TITLE Mutations in PCSK9 cause autosomal dominant hypercholesterolemia. JOURNAL Nat Genet 34:154-6 (2003) DOI:10.1038/ng1161 REFERENCE PMID:21513517 AUTHORS Fahed AC, Nemer GM TITLE Familial hypercholesterolemia: the lipids or the genes? JOURNAL Nutr Metab (Lond) 8:23 (2011) DOI:10.1186/1743-7075-8-23 REFERENCE PMID:26370207 AUTHORS Ito MK, Watts GF TITLE Challenges in the Diagnosis and Treatment of Homozygous Familial Hypercholesterolemia. JOURNAL Drugs 75:1715-24 (2015) DOI:10.1007/s40265-015-0466-y /// ENTRY 25788v1 Variant NAME RAD54B mutation GENE RAD54B RAD54 homolog B [KO:K10877] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 604289 NETWORK nt06506 Double-strand break repair DISEASE H02418 Non-Hodgkin lymphoma REFERENCE PMID:10362364 AUTHORS Hiramoto T, Nakanishi T, Sumiyoshi T, Fukuda T, Matsuura S, Tauchi H, Komatsu K, Shibasaki Y, Inui H, Watatani M, Yasutomi M, Sumii K, Kajiyama G, Kamada N, Miyagawa K, Kamiya K TITLE Mutations of a novel human RAD54 homologue, RAD54B, in primary cancer. JOURNAL Oncogene 18:3422-6 (1999) DOI:10.1038/sj.onc.1202691 /// ENTRY 2581v1 Variant NAME GALC deficiency GENE GALC galactosylceramidase [KO:K01202] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 606890 NETWORK nt06014 Sphingolipid degradation DISEASE H00135 Krabbe disease REFERENCE PMID:20886637 AUTHORS Tappino B, Biancheri R, Mort M, Regis S, Corsolini F, Rossi A, Stroppiano M, Lualdi S, Fiumara A, Bembi B, Di Rocco M, Cooper DN, Filocamo M TITLE Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease. JOURNAL Hum Mutat 31:E1894-914 (2010) DOI:10.1002/humu.21367 /// ENTRY 2582v1 Variant NAME GALE deficiency GENE GALE UDP-galactose-4-epimerase [KO:K01784] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 606953 NETWORK nt06023 Galactose degradation DISEASE H02010 Galactose epimerase deficiency REFERENCE PMID:9700591 AUTHORS Alano A, Almashanu S, Chinsky JM, Costeas P, Blitzer MG, Wulfsberg EA, Cowan TM TITLE Molecular characterization of a unique patient with epimerase-deficiency galactosaemia. JOURNAL J Inherit Metab Dis 21:341-50 (1998) DOI:10.1023/A:1005342306080 /// ENTRY 25836v1 Variant NAME NIPBL mutation GENE NIPBL NIPBL cohesin loading factor [KO:K06672] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 608667 NETWORK nt06512 Chromosome cohesion and segregation DISEASE H00631 Cornelia de Lange syndrome REFERENCE PMID:15146186 AUTHORS Krantz ID, McCallum J, DeScipio C, Kaur M, Gillis LA, Yaeger D, Jukofsky L, Wasserman N, Bottani A, Morris CA, Nowaczyk MJ, Toriello H, Bamshad MJ, Carey JC, Rappaport E, Kawauchi S, Lander AD, Calof AL, Li HH, Devoto M, Jackson LG TITLE Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. JOURNAL Nat Genet 36:631-5 (2004) DOI:10.1038/ng1364 /// ENTRY 2584v1 Variant NAME GALK1 deficiency GENE GALK1 galactokinase 1 [KO:K00849] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 604313 NETWORK nt06023 Galactose degradation DISEASE H02009 Galactokinase deficiency REFERENCE PMID:7670469 AUTHORS Stambolian D, Ai Y, Sidjanin D, Nesburn K, Sathe G, Rosenberg M, Bergsma DJ TITLE Cloning of the galactokinase cDNA and identification of mutations in two families with cataracts. JOURNAL Nat Genet 10:307-12 (1995) DOI:10.1038/ng0795-307 /// ENTRY 2588v1 Variant NAME GALNS deficiency GENE GALNS galactosamine (N-acetyl)-6-sulfatase [KO:K01132] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 612222 NETWORK nt06012 Glycosaminoglycan degradation DISEASE H00123 Mucopolysaccharidosis type IV DRUG_TARGET Elosulfase alfa: D10333 REFERENCE PMID:25252036 AUTHORS Bidchol AM, Dalal A, Shah H, S S, Nampoothiri S, Kabra M, Gupta N, Danda S, Gowrishankar K, Phadke SR, Kapoor S, Kamate M, Verma IC, Puri RD, Sankar VH, Devi AR, Patil SJ, Ranganath P, Jain SJ, Agarwal M, Singh A, Mishra P, Tamhankar PM, Gopinath PM, Nagarajaram HA, Satyamoorthy K, Girisha KM TITLE GALNS mutations in Indian patients with mucopolysaccharidosis IVA. JOURNAL Am J Med Genet A 164A:2793-801 (2014) DOI:10.1002/ajmg.a.36735 /// ENTRY 25913v1 Variant NAME POT1 mutation GENE POT1 protection of telomeres 1 [KO:K11109] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 606478 NETWORK nt06510 Telomere length regulation DISEASE H00038 Melanoma H00042 Glioma H02569 Pulmonary fibrosis and/or bone marrow failure, telomere-related REFERENCE PMID:24686849 AUTHORS Robles-Espinoza CD, Harland M, Ramsay AJ, Aoude LG, Quesada V, Ding Z, Pooley KA, Pritchard AL, Tiffen JC, Petljak M, Palmer JM, Symmons J, Johansson P, Stark MS, Gartside MG, Snowden H, Montgomery GW, Martin NG, Liu JZ, Choi J, Makowski M, Brown KM, Dunning AM, Keane TM, Lopez-Otin C, Gruis NA, Hayward NK, Bishop DT, Newton-Bishop JA, Adams DJ TITLE POT1 loss-of-function variants predispose to familial melanoma. JOURNAL Nat Genet 46:478-481 (2014) DOI:10.1038/ng.2947 /// ENTRY 25915v1 Variant NAME NDUFAF3 mutation GENE NDUFAF3 NADH:ubiquinone oxidoreductase complex assembly factor 3 [KO:K09008] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 612911 NETWORK nt06529 Thermogenesis DISEASE H00473 Mitochondrial complex I deficiency REFERENCE PMID:19463981 AUTHORS Saada A, Vogel RO, Hoefs SJ, van den Brand MA, Wessels HJ, Willems PH, Venselaar H, Shaag A, Barghuti F, Reish O, Shohat M, Huynen MA, Smeitink JA, van den Heuvel LP, Nijtmans LG TITLE Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease. JOURNAL Am J Hum Genet 84:718-27 (2009) DOI:10.1016/j.ajhg.2009.04.020 /// ENTRY 2592v1 Variant NAME GALT deficiency GENE GALT galactose-1-phosphate uridylyltransferase [KO:K00965] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 606999 NETWORK nt06023 Galactose degradation DISEASE H02008 Galactose-1P uridylyltransferase deficiency REFERENCE PMID:11261429 AUTHORS Elsas LJ 2nd, Lai K TITLE The molecular biology of galactosemia. JOURNAL Genet Med 1:40-8 (1998) DOI:10.1097/00125817-199811000-00009 /// ENTRY 25939v1 Variant NAME SAMHD1 mutation GENE SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 [KO:K22544] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 606754 NETWORK nt06520 CGAS-STING signaling DISEASE H00290 Aicardi-Goutieres syndrome H00291 Familial chilblain lupus (FCL) REFERENCE PMID:32411126 AUTHORS Wan D, Jiang W, Hao J TITLE Research Advances in How the cGAS-STING Pathway Controls the Cellular Inflammatory Response. JOURNAL Front Immunol 11:615 (2020) DOI:10.3389/fimmu.2020.00615 REFERENCE PMID:33717156 AUTHORS Santa P, Garreau A, Serpas L, Ferriere A, Blanco P, Soni C, Sisirak V TITLE The Role of Nucleases and Nucleic Acid Editing Enzymes in the Regulation of Self-Nucleic Acid Sensing. JOURNAL Front Immunol 12:629922 (2021) DOI:10.3389/fimmu.2021.629922 /// ENTRY 2593v1 Variant NAME GAMT deficiency GENE GAMT guanidinoacetate N-methyltransferase [KO:K00542] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 601240 NETWORK nt06033 Glycine, serine and arginine metabolism DISEASE H00849 Cerebral creatine deficiency syndrome REFERENCE PMID:8651275 AUTHORS Stockler S, Isbrandt D, Hanefeld F, Schmidt B, von Figura K TITLE Guanidinoacetate methyltransferase deficiency: the first inborn error of creatine metabolism in man. JOURNAL Am J Hum Genet 58:914-22 (1996) /// ENTRY 25v1 Variant NAME BCR-ABL1 fusion GENE ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase [KO:K06619] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION translocation t(9;22)(q34;q11) COSF: 1756 1758 1783 NETWORK nt06210 ERK signaling nt06214 PI3K signaling nt06219 JAK-STAT signaling nt06276 Chronic myeloid leukemia DISEASE H00004 Chronic myeloid leukemia DRUG_TARGET Asciminib (DG03004): D11404 Imatinib (DG00710): D01441 REFERENCE PMID:15719031 AUTHORS Ren R. TITLE Mechanisms of BCR-ABL in the pathogenesis of chronic myelogenous leukaemia. JOURNAL Nat Rev Cancer 5:172-83 (2005) DOI:10.1038/nrc1567 REFERENCE PMID:10403855 AUTHORS Faderl S, Talpaz M, Estrov Z, O'Brien S, Kurzrock R, Kantarjian HM. TITLE The biology of chronic myeloid leukemia. JOURNAL N Engl J Med 341:164-72 (1999) DOI:10.1056/NEJM199907153410306 REFERENCE PMID:12476301 AUTHORS Salesse S, Verfaillie CM TITLE BCR/ABL: from molecular mechanisms of leukemia induction to treatment of chronic myelogenous leukemia. JOURNAL Oncogene 21:8547-59 (2002) DOI:10.1038/sj.onc.1206082 /// ENTRY 25v2 Variant NAME First generation TKI-resistant ABL1 mutation GENE ABL1 ABL proto-oncogene 1, non-receptor tyrosine kinase [KO:K06619] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutation T315I ClinVar: 12624 dbSNP: rs121913456 COSM: 12614 12560 VARIATION mutation Y253H ClinVar: 12627 dbSNP: rs121913461 COSM: 12576 VARIATION mutation E255K ClinVar: 12626 dbSNP: rs387906517 COSM: 12573 VARIATION mutation E255V ClinVar: 12625 dbSNP: rs387906516 COSM: 12574 NETWORK nt06210 ERK signaling nt06214 PI3K signaling nt06219 JAK-STAT signaling nt06276 Chronic myeloid leukemia DISEASE H00004 Chronic myeloid leukemia DRUG_TARGET Asciminib (DG03004): D11404 Bosutinib (DG00718): D09728 Dasatinib (DG00714): D06414 Nilotinib (DG00716): D06413 D12444 Olverembatinib: D12175 Ponatinib (DG00722): D09951 REFERENCE PMID:17496200 AUTHORS O'Hare T, Eide CA, Deininger MW TITLE Bcr-Abl kinase domain mutations, drug resistance, and the road to a cure for chronic myeloid leukemia. JOURNAL Blood 110:2242-9 (2007) DOI:10.1182/blood-2007-03-066936 /// ENTRY 26053v1 Variant NAME AUTS2 mutation GENE AUTS2 activator of transcription and developmental regulator AUTS2 [KO:K23214] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 607270 NETWORK nt06523 Epigenetic regulation by Polycomb complexes DISEASE H00773 Autosomal dominant intellectual developmental disorder REFERENCE PMID:23332918 AUTHORS Beunders G, Voorhoeve E, Golzio C, Pardo LM, Rosenfeld JA, Talkowski ME, Simonic I, Lionel AC, Vergult S, Pyatt RE, van de Kamp J, Nieuwint A, Weiss MM, Rizzu P, Verwer LE, van Spaendonk RM, Shen Y, Wu BL, Yu T, Yu Y, Chiang C, Gusella JF, Lindgren AM, Morton CC, van Binsbergen E, Bulk S, van Rossem E, Vanakker O, Armstrong R, Park SM, Greenhalgh L, Maye U, Neill NJ, Abbott KM, Sell S, Ladda R, Farber DM, Bader PI, Cushing T, Drautz JM, Konczal L, Nash P, de Los Reyes E, Carter MT, Hopkins E, Marshall CR, Osborne LR, Gripp KW, Thrush DL, Hashimoto S, Gastier-Foster JM, Astbury C, Ylstra B, Meijers-Heijboer H, Posthuma D, Menten B, Mortier G, Scherer SW, Eichler EE, Girirajan S, Katsanis N, Groffen AJ, Sistermans EA TITLE Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus. JOURNAL Am J Hum Genet 92:210-20 (2013) DOI:10.1016/j.ajhg.2012.12.011 REFERENCE PMID:25519132 AUTHORS Gao Z, Lee P, Stafford JM, von Schimmelmann M, Schaefer A, Reinberg D TITLE An AUTS2-Polycomb complex activates gene expression in the CNS. JOURNAL Nature 516:349-54 (2014) DOI:10.1038/nature13921 /// ENTRY 26119v1 Variant NAME LDLRAP1 mutation GENE LDLRAP1 low density lipoprotein receptor adaptor protein 1 [KO:K12474] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 605747 NETWORK nt06320 APOB-LDLR signaling DISEASE H01918 Familial autosomal recessive hypercholesterolemia REFERENCE PMID:11326085 AUTHORS Garcia CK, Wilund K, Arca M, Zuliani G, Fellin R, Maioli M, Calandra S, Bertolini S, Cossu F, Grishin N, Barnes R, Cohen JC, Hobbs HH TITLE Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein. JOURNAL Science 292:1394-8 (2001) DOI:10.1126/science.1060458 REFERENCE PMID:17380167 AUTHORS Soutar AK, Naoumova RP TITLE Mechanisms of disease: genetic causes of familial hypercholesterolemia. JOURNAL Nat Clin Pract Cardiovasc Med 4:214-25 (2007) DOI:10.1038/ncpcardio0836 REFERENCE PMID:22509010 AUTHORS Dvir H, Shah M, Girardi E, Guo L, Farquhar MG, Zajonc DM TITLE Atomic structure of the autosomal recessive hypercholesterolemia phosphotyrosine-binding domain in complex with the LDL-receptor tail. JOURNAL Proc Natl Acad Sci U S A 109:6916-21 (2012) DOI:10.1073/pnas.1114128109 REFERENCE PMID:28577571 AUTHORS Paththinige CS, Sirisena ND, Dissanayake V TITLE Genetic determinants of inherited susceptibility to hypercholesterolemia - a comprehensive literature review. JOURNAL Lipids Health Dis 16:103 (2017) DOI:10.1186/s12944-017-0488-4 REFERENCE PMID:21513517 AUTHORS Fahed AC, Nemer GM TITLE Familial hypercholesterolemia: the lipids or the genes? JOURNAL Nutr Metab (Lond) 8:23 (2011) DOI:10.1186/1743-7075-8-23 /// ENTRY 26227v1 Variant NAME PHGDH deficiency GENE PHGDH phosphoglycerate dehydrogenase [KO:K00058] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 606879 NETWORK nt06033 Glycine, serine and arginine metabolism DISEASE H01079 3-Phosphoglycerate dehydrogenase (3-PGDH) deficiency H02117 Neu-Laxova syndrome REFERENCE PMID:19235232 AUTHORS Tabatabaie L, de Koning TJ, Geboers AJ, van den Berg IE, Berger R, Klomp LW TITLE Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics. JOURNAL Hum Mutat 30:749-56 (2009) DOI:10.1002/humu.20934 /// ENTRY 26229v1 Variant NAME B3GAT3 mutation GENE B3GAT3 beta-1,3-glucuronyltransferase 3 [KO:K10158] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 606374 NETWORK nt06029 Glycosaminoglycan biosynthesis DISEASE H01498 Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects REFERENCE PMID:24668659 AUTHORS von Oettingen JE, Tan WH, Dauber A TITLE Skeletal dysplasia, global developmental delay, and multiple congenital anomalies in a 5-year-old boy-report of the second family with B3GAT3 mutation and expansion of the phenotype. JOURNAL Am J Med Genet A 164A:1580-6 (2014) DOI:10.1002/ajmg.a.36487 /// ENTRY 26275v1 Variant NAME HIBCH deficiency GENE HIBCH 3-hydroxyisobutyryl-CoA hydrolase [KO:K05605] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 610690 NETWORK nt06024 Valine, leucine and isoleucine degradation DISEASE H01349 Methacrylic aciduria REFERENCE PMID:7122152 AUTHORS Brown GK, Hunt SM, Scholem R, Fowler K, Grimes A, Mercer JF, Truscott RM, Cotton RG, Rogers JG, Danks DM TITLE beta-hydroxyisobutyryl coenzyme A deacylase deficiency: a defect in valine metabolism associated with physical malformations. JOURNAL Pediatrics 70:532-8 (1982) /// ENTRY 26277v1 Variant NAME TINF2 mutation GENE TINF2 TERF1 interacting nuclear factor 2 [KO:K11112] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 604319 NETWORK nt06510 Telomere length regulation DISEASE H00507 Dyskeratosis congenita REFERENCE PMID:18252230 AUTHORS Savage SA, Giri N, Baerlocher GM, Orr N, Lansdorp PM, Alter BP TITLE TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita. JOURNAL Am J Hum Genet 82:501-9 (2008) DOI:10.1016/j.ajhg.2007.10.004 /// ENTRY 2628v1 Variant NAME GATM deficiency GENE GATM glycine amidinotransferase [KO:K00613] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 602360 NETWORK nt06033 Glycine, serine and arginine metabolism DISEASE H00849 Cerebral creatine deficiency syndrome REFERENCE PMID:11555793 AUTHORS Item CB, Stockler-Ipsiroglu S, Stromberger C, Muhl A, Alessandri MG, Bianchi MC, Tosetti M, Fornai F, Cioni G TITLE Arginine:glycine amidinotransferase deficiency: the third inborn error of creatine metabolism in humans. JOURNAL Am J Hum Genet 69:1127-33 (2001) DOI:10.1086/323765 /// ENTRY 2629v1 Variant NAME GBA deficiency GENE GBA1 glucosylceramidase beta 1 [KO:K01201] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 606463 NETWORK nt06014 Sphingolipid degradation DISEASE H00126 Gaucher disease H00423 Sphingolipidosis DRUG_TARGET Alglucerase: D02810 Imiglucerase: D03020 Taliglucerase alfa: D09675 Velaglucerase alfa: D09029 REFERENCE PMID:2349952 AUTHORS Latham T, Grabowski GA, Theophilus BD, Smith FI TITLE Complex alleles of the acid beta-glucosidase gene in Gaucher disease. JOURNAL Am J Hum Genet 47:79-86 (1990) REFERENCE PMID:10796875 AUTHORS Koprivica V, Stone DL, Park JK, Callahan M, Frisch A, Cohen IJ, Tayebi N, Sidransky E TITLE Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease. JOURNAL Am J Hum Genet 66:1777-86 (2000) DOI:10.1086/302925 /// ENTRY 26301v1 Variant NAME GBGT1 FORS- allele GENE GBGT1 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) [KO:K00722] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION polymorphism OmimVar: 606074 NETWORK nt06035 Blood group carbohydrate antigen biosynthesis REFERENCE PMID:23255552 AUTHORS Svensson L, Hult AK, Stamps R, Angstrom J, Teneberg S, Storry JR, Jorgensen R, Rydberg L, Henry SM, Olsson ML TITLE Forssman expression on human erythrocytes: biochemical and genetic evidence of a new histo-blood group system. JOURNAL Blood 121:1459-68 (2013) DOI:10.1182/blood-2012-10-455055 /// ENTRY 26301v2 Variant NAME GBGT1 FORS allele GENE GBGT1 globoside alpha-1,3-N-acetylgalactosaminyltransferase 1 (FORS blood group) [KO:K00722] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION polymorphism OmimVar: 606074 NETWORK nt06035 Blood group carbohydrate antigen biosynthesis REFERENCE PMID:23255552 AUTHORS Svensson L, Hult AK, Stamps R, Angstrom J, Teneberg S, Storry JR, Jorgensen R, Rydberg L, Henry SM, Olsson ML TITLE Forssman expression on human erythrocytes: biochemical and genetic evidence of a new histo-blood group system. JOURNAL Blood 121:1459-68 (2013) DOI:10.1182/blood-2012-10-455055 /// ENTRY 2632v1 Variant NAME GBE1 deficiency GENE GBE1 1,4-alpha-glucan branching enzyme 1 [KO:K00700] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 607839 NETWORK nt06017 Glycogen metabolism DISEASE H01942 Glycogen storage disease type IV REFERENCE PMID:15452297 AUTHORS Bruno C, van Diggelen OP, Cassandrini D, Gimpelev M, Giuffre B, Donati MA, Introvini P, Alegria A, Assereto S, Morandi L, Mora M, Tonoli E, Mascelli S, Traverso M, Pasquini E, Bado M, Vilarinho L, van Noort G, Mosca F, DiMauro S, Zara F, Minetti C TITLE Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV). JOURNAL Neurology 63:1053-8 (2004) DOI:10.1212/01.WNL.0000138429.11433.0D /// ENTRY 2639v1 Variant NAME GCDH deficiency GENE GCDH glutaryl-CoA dehydrogenase [KO:K00252] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 608801 NETWORK nt06036 Lysine degradation DISEASE H00178 Glutaric acidemia REFERENCE PMID:10960496 AUTHORS Busquets C, Merinero B, Christensen E, Gelpi JL, Campistol J, Pineda M, Fernandez-Alvarez E, Prats JM, Sans A, Arteaga R, Marti M, Campos J, Martinez-Pardo M, Martinez-Bermejo A, Ruiz-Falco ML, Vaquerizo J, Orozco M, Ugarte M, Coll MJ, Ribes A TITLE Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct. JOURNAL Pediatr Res 48:315-22 (2000) DOI:10.1203/00006450-200009000-00009 /// ENTRY 2643v1 Variant NAME GCH1 deficiency GENE GCH1 GTP cyclohydrolase 1 [KO:K01495] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 600225 NETWORK nt06016 Phenylalanine and tyrosine metabolism nt06028 Dopamine and serotonin metabolism DISEASE H00167 Phenylketonuria H02557 Dopa-responsive dystonia REFERENCE PMID:7730309 AUTHORS Ichinose H, Ohye T, Matsuda Y, Hori T, Blau N, Burlina A, Rouse B, Matalon R, Fujita K, Nagatsu T TITLE Characterization of mouse and human GTP cyclohydrolase I genes. Mutations in patients with GTP cyclohydrolase I deficiency. JOURNAL J Biol Chem 270:10062-71 (1995) DOI:10.1074/jbc.270.17.10062 /// ENTRY 2651v1 Variant NAME GCNT2 I allele GENE GCNT2 glucosaminyl (N-acetyl) transferase 2 (I blood group) [KO:K00742] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION polymorphism OmimVar: 600429 NETWORK nt06035 Blood group carbohydrate antigen biosynthesis REFERENCE PMID:12468428 AUTHORS Inaba N, Hiruma T, Togayachi A, Iwasaki H, Wang XH, Furukawa Y, Sumi R, Kudo T, Fujimura K, Iwai T, Gotoh M, Nakamura M, Narimatsu H TITLE A novel I-branching beta-1,6-N-acetylglucosaminyltransferase involved in human blood group I antigen expression. JOURNAL Blood 101:2870-6 (2003) DOI:10.1182/blood-2002-09-2838 REFERENCE PMID:11739194 AUTHORS Yu LC, Twu YC, Chang CY, Lin M TITLE Molecular basis of the adult i phenotype and the gene responsible for the expression of the human blood group I antigen. JOURNAL Blood 98:3840-5 (2001) DOI:10.1182/blood.v98.13.3840 /// ENTRY 2651v2 Variant NAME GCNT2 I- (i adult) allele GENE GCNT2 glucosaminyl (N-acetyl) transferase 2 (I blood group) [KO:K00742] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION polymorphism OmimVar: 600429 NETWORK nt06035 Blood group carbohydrate antigen biosynthesis REFERENCE PMID:12468428 AUTHORS Inaba N, Hiruma T, Togayachi A, Iwasaki H, Wang XH, Furukawa Y, Sumi R, Kudo T, Fujimura K, Iwai T, Gotoh M, Nakamura M, Narimatsu H TITLE A novel I-branching beta-1,6-N-acetylglucosaminyltransferase involved in human blood group I antigen expression. JOURNAL Blood 101:2870-6 (2003) DOI:10.1182/blood-2002-09-2838 REFERENCE PMID:12424189 AUTHORS Yu LC, Twu YC, Chou ML, Reid ME, Gray AR, Moulds JM, Chang CY, Lin M TITLE The molecular genetics of the human I locus and molecular background explain the partial association of the adult i phenotype with congenital cataracts. JOURNAL Blood 101:2081-8 (2003) DOI:10.1182/blood-2002-09-2693 /// ENTRY 2653v1 Variant NAME GCSH deficiency GENE GCSH glycine cleavage system protein H [KO:K02437] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 238330 NETWORK nt06033 Glycine, serine and arginine metabolism DISEASE H00191 Nonketotic hyperglycinemia REFERENCE PMID:1671321 AUTHORS Koyata H, Hiraga K TITLE The glycine cleavage system: structure of a cDNA encoding human H-protein, and partial characterization of its gene in patients with hyperglycinemias. JOURNAL Am J Hum Genet 48:351-61 (1991) /// ENTRY 2658v1 Variant NAME GDF2 mutation GENE GDF2 growth differentiation factor 2 [KO:K05503] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 605120 NETWORK nt06507 TGFB signaling DISEASE H00533 Hereditary hemorrhagic telangiectasia REFERENCE PMID:33167572 AUTHORS Bernabeu C, Bayrak-Toydemir P, McDonald J, Letarte M TITLE Potential Second-Hits in Hereditary Hemorrhagic Telangiectasia. JOURNAL J Clin Med 9:E3571 (2020) DOI:10.3390/jcm9113571 /// ENTRY 2660v1 Variant NAME MSTN mutation GENE MSTN myostatin [KO:K05497] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 601788 NETWORK nt06507 TGFB signaling DISEASE H02452 Muscle hypertrophy REFERENCE PMID:17008304 AUTHORS Harradine KA, Akhurst RJ TITLE Mutations of TGFbeta signaling molecules in human disease. JOURNAL Ann Med 38:403-14 (2006) DOI:10.1080/07853890600919911 /// ENTRY 2683v1 Variant NAME B4GALT1 deficiency GENE B4GALT1 beta-1,4-galactosyltransferase 1 [KO:K07966] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 137060 NETWORK nt06015 N-Glycan biosynthesis DISEASE H00119 Congenital disorders of glycosylation type II REFERENCE PMID:11901181 AUTHORS Hansske B, Thiel C, Lubke T, Hasilik M, Honing S, Peters V, Heidemann PH, Hoffmann GF, Berger EG, von Figura K, Korner C TITLE Deficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId. JOURNAL J Clin Invest 109:725-33 (2002) DOI:10.1172/JCI14010 /// ENTRY 26873v1 Variant NAME OPLAH deficiency GENE OPLAH 5-oxoprolinase, ATP-hydrolysing [KO:K01469] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 614243 NETWORK nt06026 Glutathione biosynthesis DISEASE H02313 5-Oxoprolinase deficiency REFERENCE PMID:21651516 AUTHORS Almaghlouth IA, Mohamed JY, Al-Amoudi M, Al-Ahaidib L, Al-Odaib A, Alkuraya FS TITLE 5-Oxoprolinase deficiency: report of the first human OPLAH mutation. JOURNAL Clin Genet 82:193-6 (2012) DOI:10.1111/j.1399-0004.2011.01728.x /// ENTRY 2688v1 Variant NAME GH1 mutation GENE GH1 growth hormone 1 [KO:K05438] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 139250 NETWORK nt06324 GHRH-GH-IGF signaling nt06518 JAK-STAT signaling DISEASE H02035 Isolated growth hormone deficiency REFERENCE PMID:21274339 AUTHORS Mullis PE TITLE Genetics of isolated growth hormone deficiency. JOURNAL J Clin Res Pediatr Endocrinol 2:52-62 (2010) DOI:10.4274/jcrpe.v2i2.52 REFERENCE PMID:9276733 AUTHORS Takahashi Y, Shirono H, Arisaka O, Takahashi K, Yagi T, Koga J, Kaji H, Okimura Y, Abe H, Tanaka T, Chihara K TITLE Biologically inactive growth hormone caused by an amino acid substitution. JOURNAL J Clin Invest 100:1159-65 (1997) DOI:10.1172/JCI119627 REFERENCE PMID:15713716 AUTHORS Besson A, Salemi S, Deladoey J, Vuissoz JM, Eble A, Bidlingmaier M, Burgi S, Honegger U, Fluck C, Mullis PE TITLE Short stature caused by a biologically inactive mutant growth hormone (GH-C53S). JOURNAL J Clin Endocrinol Metab 90:2493-9 (2005) DOI:10.1210/jc.2004-1838 REFERENCE PMID:10689634 AUTHORS Abdul-Latif H, Leiberman E, Brown MR, Carmi R, Parks JS TITLE Growth hormone deficiency type IB caused by cryptic splicing of the GH-1 gene. JOURNAL J Pediatr Endocrinol Metab 13:21-8 (2000) DOI:10.1515/jpem.2000.13.1.21 /// ENTRY 268v1 Variant NAME AMH mutation GENE AMH anti-Mullerian hormone [KO:K04665] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 600957 NETWORK nt06507 TGFB signaling DISEASE H00609 Persistent Mullerian duct syndrome REFERENCE PMID:15878900 AUTHORS Josso N, Belville C, di Clemente N, Picard JY TITLE AMH and AMH receptor defects in persistent Mullerian duct syndrome. JOURNAL Hum Reprod Update 11:351-6 (2005) DOI:10.1093/humupd/dmi014 /// ENTRY 2690v1 Variant NAME GHR mutation GENE GHR growth hormone receptor [KO:K05080] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 600946 NETWORK nt06324 GHRH-GH-IGF signaling nt06518 JAK-STAT signaling DISEASE H02037 Laron syndrome REFERENCE PMID:9360529 AUTHORS Kaji H, Nose O, Tajiri H, Takahashi Y, Iida K, Takahashi T, Okimura Y, Abe H, Chihara K TITLE Novel compound heterozygous mutations of growth hormone (GH) receptor gene in a patient with GH insensitivity syndrome. JOURNAL J Clin Endocrinol Metab 82:3705-9 (1997) DOI:10.1210/jcem.82.11.4344 REFERENCE PMID:9661642 AUTHORS Walker JL, Crock PA, Behncken SN, Rowlinson SW, Nicholson LM, Boulton TJ, Waters MJ TITLE A novel mutation affecting the interdomain link region of the growth hormone receptor in a Vietnamese girl, and response to long-term treatment with recombinant human insulin-like growth factor-I and luteinizing hormone-releasing hormone analogue. JOURNAL J Clin Endocrinol Metab 83:2554-61 (1998) DOI:10.1210/jcem.83.7.4954 REFERENCE PMID:17126560 AUTHORS Pilecka I, Whatmore A, Hooft van Huijsduijnen R, Destenaves B, Clayton P TITLE Growth hormone signalling: sprouting links between pathways, human genetics and therapeutic options. JOURNAL Trends Endocrinol Metab 18:12-8 (2007) DOI:10.1016/j.tem.2006.11.004 REFERENCE PMID:30542372 AUTHORS Bartke A, Quainoo N TITLE Impact of Growth Hormone-Related Mutations on Mammalian Aging. JOURNAL Front Genet 9:586 (2018) DOI:10.3389/fgene.2018.00586 REFERENCE PMID:8853444 AUTHORS Amselem S, Sobrier ML, Dastot F, Duquesnoy P, Duriez B, Goossens M TITLE Molecular basis of inherited growth hormone resistance in childhood. JOURNAL Baillieres Clin Endocrinol Metab 10:353-69 (1996) DOI:10.1016/s0950-351x(96)80485-x REFERENCE PMID:21325617 AUTHORS Guevara-Aguirre J, Balasubramanian P, Guevara-Aguirre M, Wei M, Madia F, Cheng CW, Hwang D, Martin-Montalvo A, Saavedra J, Ingles S, de Cabo R, Cohen P, Longo VD TITLE Growth hormone receptor deficiency is associated with a major reduction in pro-aging signaling, cancer, and diabetes in humans. JOURNAL Sci Transl Med 3:70ra13 (2011) DOI:10.1126/scitranslmed.3001845 /// ENTRY 2692v1 Variant NAME GHRHR mutation GENE GHRHR growth hormone releasing hormone receptor [KO:K04584] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 139191 NETWORK nt06324 GHRH-GH-IGF signaling DISEASE H02035 Isolated growth hormone deficiency REFERENCE PMID:12794696 AUTHORS Wajnrajch MP, Gertner JM, Sokoloff AS, Ten I, Harbison MD, Netchine I, Maheshwari HG, Goldstein DB, Amselem S, Baumann G, Leibel RL TITLE Haplotype analysis of the growth hormone releasing hormone receptor locus in three apparently unrelated kindreds from the indian subcontinent with the identical mutation in the GHRH receptor. JOURNAL Am J Med Genet A 120A:77-83 (2003) DOI:10.1002/ajmg.a.10209 REFERENCE PMID:11232012 AUTHORS Salvatori R, Fan X, Phillips JA 3rd, Espigares-Martin R, Martin De Lara I, Freeman KL, Plotnick L, Al-Ashwal A, Levine MA TITLE Three new mutations in the gene for the growth hormone (gh)-releasing hormone receptor in familial isolated gh deficiency type ib. JOURNAL J Clin Endocrinol Metab 86:273-9 (2001) DOI:10.1210/jcem.86.1.7156 REFERENCE PMID:31231873 AUTHORS Cohen E, Belkacem S, Fedala S, Collot N, Khallouf E, Dastot F, Polak M, Duquesnoy P, Brioude F, Rose S, Viot G, Soleyan A, Carel JC, Sobrier ML, Chanson P, Gatelais F, Heinrichs C, Kaffel N, Coutant R, Savas Erdeve S, Kurnaz E, Aycan Z, Thalassinos C, Lyonnet S, Siklar Z, Berberoglu M, Brachet C, Amselem S, Legendre M TITLE Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutations. JOURNAL Hum Mutat 40:2033-2043 (2019) DOI:10.1002/humu.23847 REFERENCE PMID:30576428 AUTHORS Aguiar-Oliveira MH, Bartke A TITLE Growth Hormone Deficiency: Health and Longevity. JOURNAL Endocr Rev 40:575-601 (2019) DOI:10.1210/er.2018-00216 REFERENCE PMID:19622623 AUTHORS Godi M, Mellone S, Petri A, Arrigo T, Bardelli C, Corrado L, Bellone S, Prodam F, Momigliano-Richiardi P, Bona G, Giordano M TITLE A recurrent signal peptide mutation in the growth hormone releasing hormone receptor with defective translocation to the cell surface and isolated growth hormone deficiency. JOURNAL J Clin Endocrinol Metab 94:3939-47 (2009) DOI:10.1210/jc.2009-0833 /// ENTRY 269v1 Variant NAME AMHR2 mutation GENE AMHR2 anti-Mullerian hormone receptor type 2 [KO:K04672] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 600956 NETWORK nt06507 TGFB signaling DISEASE H00609 Persistent Mullerian duct syndrome REFERENCE PMID:15878900 AUTHORS Josso N, Belville C, di Clemente N, Picard JY TITLE AMH and AMH receptor defects in persistent Mullerian duct syndrome. JOURNAL Hum Reprod Update 11:351-6 (2005) DOI:10.1093/humupd/dmi014 /// ENTRY 27030v1 Variant NAME MLH3 mutation GENE MLH3 mutL homolog 3 [KO:K08739] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 604395 NETWORK nt06503 Mismatch repair DISEASE H02565 Hereditary nonpolyposis colorectal cancer REFERENCE PMID:18521850 AUTHORS Korhonen MK, Vuorenmaa E, Nystrom M TITLE The first functional study of MLH3 mutations found in cancer patients. JOURNAL Genes Chromosomes Cancer 47:803-9 (2008) DOI:10.1002/gcc.20581 /// ENTRY 27034v1 Variant NAME ACAD8 deficiency GENE ACAD8 acyl-CoA dehydrogenase family member 8 [KO:K11538] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 604773 NETWORK nt06024 Valine, leucine and isoleucine degradation DISEASE H01279 Isobutyryl-CoA dehydrogenase deficiency REFERENCE PMID:12359132 AUTHORS Nguyen TV, Andresen BS, Corydon TJ, Ghisla S, Abd-El Razik N, Mohsen AW, Cederbaum SD, Roe DS, Roe CR, Lench NJ, Vockley J TITLE Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans. JOURNAL Mol Genet Metab 77:68-79 (2002) DOI:10.1016/S1096-7192(02)00152-X /// ENTRY 27040v1 Variant NAME LAT mutation GENE LAT linker for activation of T cells [KO:K07362] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 602354 NETWORK nt06528 Calcium signaling DISEASE H02526 Disorders of adaptive immunity REFERENCE PMID:35091087 AUTHORS Latour S TITLE Inherited immunodeficiencies associated with proximal and distal defects in T cell receptor signaling and co-signaling. JOURNAL Biomed J 45:321-333 (2022) DOI:10.1016/j.bj.2022.01.013 REFERENCE PMID:27242165 AUTHORS Keller B, Zaidman I, Yousefi OS, Hershkovitz D, Stein J, Unger S, Schachtrup K, Sigvardsson M, Kuperman AA, Shaag A, Schamel WW, Elpeleg O, Warnatz K, Stepensky P TITLE Early onset combined immunodeficiency and autoimmunity in patients with loss-of-function mutation in LAT. JOURNAL J Exp Med 213:1185-99 (2016) DOI:10.1084/jem.20151110 /// ENTRY 27089v1 Variant NAME UQCRQ mutation GENE UQCRQ ubiquinol-cytochrome c reductase complex III subunit VII [KO:K00418] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 612080 NETWORK nt06529 Thermogenesis DISEASE H02086 Mitochondrial complex III deficiency REFERENCE PMID:18439546 AUTHORS Barel O, Shorer Z, Flusser H, Ofir R, Narkis G, Finer G, Shalev H, Nasasra A, Saada A, Birk OS TITLE Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQ. JOURNAL Am J Hum Genet 82:1211-6 (2008) DOI:10.1016/j.ajhg.2008.03.020 /// ENTRY 2717v1 Variant NAME GLA deficiency GENE GLA galactosidase alpha [KO:K01189] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 300644 NETWORK nt06014 Sphingolipid degradation DISEASE H00125 Fabry disease DRUG_TARGET Agalsidase alfa: D02784 Agalsidase beta: D03228 Pegunigalsidase alfa: D11685 REFERENCE PMID:7504405 AUTHORS Eng CM, Resnick-Silverman LA, Niehaus DJ, Astrin KH, Desnick RJ TITLE Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease. JOURNAL Am J Hum Genet 53:1186-97 (1993) /// ENTRY 2717v2 Variant NAME GLA mutation, migalastat amenable GENE GLA galactosidase alpha [KO:K01189] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutation L300P ClinVar: 92569 dbSNP: rs398123223 NETWORK nt06014 Sphingolipid degradation DISEASE H00125 Fabry disease DRUG_TARGET Migalastat (DG02691): D05031 REFERENCE PMID:21598360 AUTHORS Wu X, Katz E, Della Valle MC, Mascioli K, Flanagan JJ, Castelli JP, Schiffmann R, Boudes P, Lockhart DJ, Valenzano KJ, Benjamin ER TITLE A pharmacogenetic approach to identify mutant forms of alpha-galactosidase A that respond to a pharmacological chaperone for Fabry disease. JOURNAL Hum Mutat 32:965-77 (2011) DOI:10.1002/humu.21530 /// ENTRY 2720v1 Variant NAME GLB1 deficiency GENE GLB1 galactosidase beta 1 [KO:K12309] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 611458 NETWORK nt06012 Glycosaminoglycan degradation nt06014 Sphingolipid degradation DISEASE H00123 Mucopolysaccharidosis type IV H00281 GM1 gangliosidosis REFERENCE PMID:21497194 AUTHORS Caciotti A, Garman SC, Rivera-Colon Y, Procopio E, Catarzi S, Ferri L, Guido C, Martelli P, Parini R, Antuzzi D, Battini R, Sibilio M, Simonati A, Fontana E, Salviati A, Akinci G, Cereda C, Dionisi-Vici C, Deodato F, d'Amico A, d'Azzo A, Bertini E, Filocamo M, Scarpa M, di Rocco M, Tifft CJ, Ciani F, Gasperini S, Pasquini E, Guerrini R, Donati MA, Morrone A TITLE GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings. JOURNAL Biochim Biophys Acta 1812:782-90 (2011) DOI:10.1016/j.bbadis.2011.03.018 /// ENTRY 27229v1 Variant NAME TUBGCP4 mutation GENE TUBGCP4 tubulin gamma complex component 4 [KO:K16571] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 609610 NETWORK nt06515 Regulation of kinetochore-microtubule interactions DISEASE H01880 Autosomal recessive microcephaly and chorioretinopathy REFERENCE PMID:25817018 AUTHORS Scheidecker S, Etard C, Haren L, Stoetzel C, Hull S, Arno G, Plagnol V, Drunat S, Passemard S, Toutain A, Obringer C, Koob M, Geoffroy V, Marion V, Strahle U, Ostergaard P, Verloes A, Merdes A, Moore AT, Dollfus H TITLE Mutations in TUBGCP4 alter microtubule organization via the gamma-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy. JOURNAL Am J Hum Genet 96:666-74 (2015) DOI:10.1016/j.ajhg.2015.02.011 /// ENTRY 27232v1 Variant NAME GNMT deficiency GENE GNMT glycine N-methyltransferase [KO:K00552] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 606628 NETWORK nt06030 Methionine metabolism DISEASE H00184 Hypermethioninemia REFERENCE PMID:11810299 AUTHORS Luka Z, Cerone R, Phillips JA 3rd, Mudd HS, Wagner C TITLE Mutations in human glycine N-methyltransferase give insights into its role in methionine metabolism. JOURNAL Hum Genet 110:68-74 (2002) DOI:10.1007/s00439-001-0648-4 /// ENTRY 2729v1 Variant NAME GCLC deficiency GENE GCLC glutamate-cysteine ligase catalytic subunit [KO:K11204] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 606857 NETWORK nt06026 Glutathione biosynthesis nt06525 Ferroptosis DISEASE H00668 Anemia due to disorders of glutathione metabolism REFERENCE PMID:10515893 AUTHORS Beutler E, Gelbart T, Kondo T, Matsunaga AT TITLE The molecular basis of a case of gamma-glutamylcysteine synthetase deficiency. JOURNAL Blood 94:2890-4 (1999) REFERENCE PMID:33357455 AUTHORS Kang YP, Mockabee-Macias A, Jiang C, Falzone A, Prieto-Farigua N, Stone E, Harris IS, DeNicola GM TITLE Non-canonical Glutamate-Cysteine Ligase Activity Protects against Ferroptosis. JOURNAL Cell Metab 33:174-189.e7 (2021) DOI:10.1016/j.cmet.2020.12.007 /// ENTRY 2731v1 Variant NAME GLDC deficiency GENE GLDC glycine decarboxylase [KO:K00281] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 238300 NETWORK nt06033 Glycine, serine and arginine metabolism DISEASE H00191 Nonketotic hyperglycinemia REFERENCE PMID:10873393 AUTHORS Toone JR, Applegarth DA, Coulter-Mackie MB, James ER TITLE Biochemical and molecular investigations of patients with nonketotic hyperglycinemia. JOURNAL Mol Genet Metab 70:116-21 (2000) DOI:10.1006/mgme.2000.3000 /// ENTRY 2733v1 Variant NAME GLE1 mutation GENE GLE1 GLE1 RNA export mediator [KO:K18723] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 603371 NETWORK nt06464 Amyotrophic lateral sclerosis DISEASE H00058 Amyotrophic lateral sclerosis (ALS) REFERENCE PMID:18204449 AUTHORS Nousiainen HO, Kestila M, Pakkasjarvi N, Honkala H, Kuure S, Tallila J, Vuopala K, Ignatius J, Herva R, Peltonen L TITLE Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease. JOURNAL Nat Genet 40:155-7 (2008) DOI:10.1038/ng.2007.65 REFERENCE PMID:30870681 AUTHORS Mathis S, Goizet C, Soulages A, Vallat JM, Masson GL TITLE Genetics of amyotrophic lateral sclerosis: A review. JOURNAL J Neurol Sci 399:217-226 (2019) DOI:10.1016/j.jns.2019.02.030 /// ENTRY 2735v1 Variant NAME GLI1 mutation GENE GLI1 GLI family zinc finger 1 [KO:K16797] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 165220 NETWORK nt06501 HH signaling DISEASE H01852 Postaxial polydactyly H02332 Preaxial polydactyly REFERENCE PMID:31781166 AUTHORS Sasai N, Toriyama M, Kondo T TITLE Hedgehog Signal and Genetic Disorders. JOURNAL Front Genet 10:1103 (2019) DOI:10.3389/fgene.2019.01103 /// ENTRY 2736v1 Variant NAME GLI2 mutation GENE GLI2 GLI family zinc finger 2 [KO:K16798] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 165230 NETWORK nt06501 HH signaling DISEASE H00267 Holoprosencephaly REFERENCE PMID:31781166 AUTHORS Sasai N, Toriyama M, Kondo T TITLE Hedgehog Signal and Genetic Disorders. JOURNAL Front Genet 10:1103 (2019) DOI:10.3389/fgene.2019.01103 /// ENTRY 2737v1 Variant NAME GLI3 mutation GENE GLI3 GLI family zinc finger 3 [KO:K06230] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 165240 NETWORK nt06501 HH signaling DISEASE H00502 Pallister-Hall syndrome H01852 Postaxial polydactyly H02161 Greig cephalopolysyndactyly syndrome H02332 Preaxial polydactyly REFERENCE PMID:31781166 AUTHORS Sasai N, Toriyama M, Kondo T TITLE Hedgehog Signal and Genetic Disorders. JOURNAL Front Genet 10:1103 (2019) DOI:10.3389/fgene.2019.01103 /// ENTRY 275v1 Variant NAME AMT deficiency GENE AMT aminomethyltransferase [KO:K00605] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 238310 NETWORK nt06033 Glycine, serine and arginine metabolism DISEASE H00191 Nonketotic hyperglycinemia REFERENCE PMID:10873393 AUTHORS Toone JR, Applegarth DA, Coulter-Mackie MB, James ER TITLE Biochemical and molecular investigations of patients with nonketotic hyperglycinemia. JOURNAL Mol Genet Metab 70:116-21 (2000) DOI:10.1006/mgme.2000.3000 /// ENTRY 2760v1 Variant NAME GM2A deficiency GENE GM2A ganglioside GM2 activator [KO:K12383] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 613109 NETWORK nt06014 Sphingolipid degradation REFERENCE PMID:1915858 AUTHORS Schroder M, Schnabel D, Suzuki K, Sandhoff K TITLE A mutation in the gene of a glycolipid-binding protein (GM2 activator) that causes GM2-gangliosidosis variant AB. JOURNAL FEBS Lett 290:1-3 (1991) DOI:10.1016/0014-5793(91)81211-p /// ENTRY 2778v1 Variant NAME GNAS activating mutation GENE GNAS GNAS complex locus [KO:K04632] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutation R201C ClinVar: 15933 dbSNP: rs11547273 VARIATION mutation R201H ClinVar: 15934 dbSNP: rs121913495 VARIATION mutation Q227R ClinVar: 15935 dbSNP: rs121913494 VARIATION mutation Q228H ClinVar: 15936 dbSNP: rs137854533 NETWORK nt06310 CRH-ACTH-cortisol signaling nt06324 GHRH-GH-IGF signaling nt06360 Cushing syndrome DISEASE H00260 Pigmented micronodular adrenocortical disease H01102 Pituitary adenomas H01431 Cushing syndrome H01483 Acromegaly H02049 Bilateral macronodular adrenal hyperplasia REFERENCE PMID:24855271 AUTHORS Sato Y, Maekawa S, Ishii R, Sanada M, Morikawa T, Shiraishi Y, Yoshida K, Nagata Y, Sato-Otsubo A, Yoshizato T, Suzuki H, Shiozawa Y, Kataoka K, Kon A, Aoki K, Chiba K, Tanaka H, Kume H, Miyano S, Fukayama M, Nureki O, Homma Y, Ogawa S TITLE Recurrent somatic mutations underlie corticotropin-independent Cushing's syndrome. JOURNAL Science 344:917-20 (2014) DOI:10.1126/science.1252328 REFERENCE PMID:2549426 AUTHORS Landis CA, Masters SB, Spada A, Pace AM, Bourne HR, Vallar L TITLE GTPase inhibiting mutations activate the alpha chain of Gs and stimulate adenylyl cyclase in human pituitary tumours. JOURNAL Nature 340:692-6 (1989) DOI:10.1038/340692a0 REFERENCE PMID:25877147 AUTHORS Fukuoka H, Takahashi Y TITLE The role of genetic and epigenetic changes in pituitary tumorigenesis. JOURNAL Neurol Med Chir (Tokyo) 54 Suppl 3:943-57 (2014) DOI:10.2176/nmc.suppl.2014-3 REFERENCE PMID:21423242 AUTHORS Melmed S TITLE Pathogenesis of pituitary tumors. JOURNAL Nat Rev Endocrinol 7:257-66 (2011) DOI:10.1038/nrendo.2011.40 REFERENCE PMID:26004339 AUTHORS Lacroix A, Feelders RA, Stratakis CA, Nieman LK TITLE Cushing's syndrome. JOURNAL Lancet 386:913-27 (2015) DOI:10.1016/S0140-6736(14)61375-1 REFERENCE PMID:25425660 AUTHORS Duan K, Gomez Hernandez K, Mete O TITLE Clinicopathological correlates of adrenal Cushing's syndrome. JOURNAL J Clin Pathol 68:175-86 (2015) DOI:10.1136/jclinpath-2014-202612 REFERENCE PMID:19884662 AUTHORS Melmed S TITLE Acromegaly pathogenesis and treatment. JOURNAL J Clin Invest 119:3189-202 (2009) DOI:10.1172/JCI39375 REFERENCE PMID:2825031 AUTHORS Vallar L, Spada A, Giannattasio G TITLE Altered Gs and adenylate cyclase activity in human GH-secreting pituitary adenomas. JOURNAL Nature 330:566-8 (1987) DOI:10.1038/330566a0 /// ENTRY 2778v2 Variant NAME GNAS inactivating mutation GENE GNAS GNAS complex locus [KO:K04632] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutation M1V ClinVar: 15927 dbSNP: rs137854530 VARIATION mutation Q12X ClinVar: 209158 dbSNP: rs797045046 VARIATION mutation L99P ClinVar: 15931 dbSNP: rs137854531 VARIATION mutation A102V ClinVar: 430510 dbSNP: rs1131691999 VARIATION mutation R165C ClinVar: 15932 dbSNP: rs137854532 VARIATION mutation R231H ClinVar: 15946 dbSNP: rs137854538 VARIATION mutation R258W ClinVar: 15941 dbSNP: rs137854535 VARIATION mutation S250R ClinVar: 15939 dbSNP: rs137854534 VARIATION mutation A366S ClinVar: 15944 dbSNP: rs137854537 NETWORK nt06318 CaSR-PTH signaling DISEASE H00244 Pseudohypoparathyroidism REFERENCE PMID:14671404 AUTHORS Levine MA, Germain-Lee E, Jan de Beur S TITLE Genetic basis for resistance to parathyroid hormone. JOURNAL Horm Res 60 Suppl 3:87-95 (2003) DOI:10.1159/000074508 REFERENCE PMID:27109785 AUTHORS Mantovani G, Spada A, Elli FM TITLE Pseudohypoparathyroidism and Gsalpha-cAMP-linked disorders: current view and open issues. JOURNAL Nat Rev Endocrinol 12:347-56 (2016) DOI:10.1038/nrendo.2016.52 REFERENCE PMID:28857066 AUTHORS Mannstadt M, Bilezikian JP, Thakker RV, Hannan FM, Clarke BL, Rejnmark L, Mitchell DM, Vokes TJ, Winer KK, Shoback DM TITLE Hypoparathyroidism. JOURNAL Nat Rev Dis Primers 3:17055 (2017) DOI:10.1038/nrdp.2017.55 /// ENTRY 2782v1 Variant NAME GNB1 mutation GENE GNB1 G protein subunit beta 1 [KO:K04536] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 139380 NETWORK nt06530 PI3K signaling DISEASE H00773 Autosomal dominant intellectual developmental disorder REFERENCE PMID:27108799 AUTHORS Petrovski S, Kury S, Myers CT, Anyane-Yeboa K, Cogne B, Bialer M, Xia F, Hemati P, Riviello J, Mehaffey M, Besnard T, Becraft E, Wadley A, Politi AR, Colombo S, Zhu X, Ren Z, Andrews I, Dudding-Byth T, Schneider AL, Wallace G, Rosen AB, Schelley S, Enns GM, Corre P, Dalton J, Mercier S, Latypova X, Schmitt S, Guzman E, Moore C, Bier L, Heinzen EL, Karachunski P, Shur N, Grebe T, Basinger A, Nguyen JM, Bezieau S, Wierenga K, Bernstein JA, Scheffer IE, Rosenfeld JA, Mefford HC, Isidor B, Goldstein DB TITLE Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. JOURNAL Am J Hum Genet 98:1001-10 (2016) DOI:10.1016/j.ajhg.2016.03.011 /// ENTRY 2796v1 Variant NAME GNRH1 mutation GENE GNRH1 gonadotropin releasing hormone 1 [KO:K05252] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 152760 NETWORK nt06323 KISS1-GnRH-LH/FSH-E2 signaling nt06361 Hypogonadotropic hypogonadism DISEASE H00255 Hypogonadotropic hypogonadism REFERENCE PMID:19535795 AUTHORS Bouligand J, Ghervan C, Tello JA, Brailly-Tabard S, Salenave S, Chanson P, Lombes M, Millar RP, Guiochon-Mantel A, Young J TITLE Isolated familial hypogonadotropic hypogonadism and a GNRH1 mutation. JOURNAL N Engl J Med 360:2742-8 (2009) DOI:10.1056/NEJMoa0900136 /// ENTRY 2798v1 Variant NAME GNRHR mutation GENE GNRHR gonadotropin releasing hormone receptor [KO:K04280] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 138850 NETWORK nt06323 KISS1-GnRH-LH/FSH-E2 signaling nt06361 Hypogonadotropic hypogonadism DISEASE H00255 Hypogonadotropic hypogonadism REFERENCE PMID:30575316 AUTHORS Cioppi F, Riera-Escamilla A, Manilall A, Guarducci E, Todisco T, Corona G, Colombo F, Bonomi M, Flanagan CA, Krausz C TITLE Genetics of ncHH: from a peculiar inheritance of a novel GNRHR mutation to a comprehensive review of the literature. JOURNAL Andrology 7:88-101 (2019) DOI:10.1111/andr.12563 REFERENCE PMID:10999776 AUTHORS Kottler ML, Chauvin S, Lahlou N, Harris CE, Johnston CJ, Lagarde JP, Bouchard P, Farid NR, Counis R TITLE A new compound heterozygous mutation of the gonadotropin-releasing hormone receptor (L314X, Q106R) in a woman with complete hypogonadotropic hypogonadism: chronic estrogen administration amplifies the gonadotropin defect. JOURNAL J Clin Endocrinol Metab 85:3002-8 (2000) DOI:10.1210/jcem.85.9.6783 REFERENCE PMID:11994356 AUTHORS Maya-Nunez G, Janovick JA, Ulloa-Aguirre A, Soderlund D, Conn PM, Mendez JP TITLE Molecular basis of hypogonadotropic hypogonadism: restoration of mutant (E(90)K) GnRH receptor function by a deletion at a distant site. JOURNAL J Clin Endocrinol Metab 87:2144-9 (2002) DOI:10.1210/jcem.87.5.8386 REFERENCE PMID:10084584 AUTHORS Caron P, Chauvin S, Christin-Maitre S, Bennet A, Lahlou N, Counis R, Bouchard P, Kottler ML TITLE Resistance of hypogonadic patients with mutated GnRH receptor genes to pulsatile GnRH administration. JOURNAL J Clin Endocrinol Metab 84:990-6 (1999) DOI:10.1210/jcem.84.3.5518 REFERENCE PMID:11397871 AUTHORS Costa EM, Bedecarrats GY, Mendonca BB, Arnhold IJ, Kaiser UB, Latronico AC TITLE Two novel mutations in the gonadotropin-releasing hormone receptor gene in Brazilian patients with hypogonadotropic hypogonadism and normal olfaction. JOURNAL J Clin Endocrinol Metab 86:2680-6 (2001) DOI:10.1210/jcem.86.6.7551 REFERENCE PMID:26783137 AUTHORS Aguilar-Rojas A, Perez-Solis MA, Maya-Nunez G TITLE The gonadotropin-releasing hormone system: Perspectives from reproduction to cancer (Review). JOURNAL Int J Oncol 48:861-8 (2016) DOI:10.3892/ijo.2016.3346 /// ENTRY 2799v1 Variant NAME GNS deficiency GENE GNS glucosamine (N-acetyl)-6-sulfatase [KO:K01137] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 607664 NETWORK nt06012 Glycosaminoglycan degradation DISEASE H00130 Mucopolysaccharidosis type III REFERENCE PMID:6450420 AUTHORS Kresse H, Paschke E, von Figura K, Gilberg W, Fuchs W TITLE Sanfilippo disease type D: deficiency of N-acetylglucosamine-6-sulfate sulfatase required for heparan sulfate degradation. JOURNAL Proc Natl Acad Sci U S A 77:6822-6 (1980) DOI:10.1073/pnas.77.11.6822 REFERENCE PMID:12624138 AUTHORS Beesley CE, Burke D, Jackson M, Vellodi A, Winchester BG, Young EP TITLE Sanfilippo syndrome type D: identification of the first mutation in the N-acetylglucosamine-6-sulphatase gene. JOURNAL J Med Genet 40:192-4 (2003) DOI:10.1136/jmg.40.3.192 REFERENCE PMID:12573255 AUTHORS Mok A, Cao H, Hegele RA TITLE Genomic basis of mucopolysaccharidosis type IIID (MIM 252940) revealed by sequencing of GNS encoding N-acetylglucosamine-6-sulfatase. JOURNAL Genomics 81:1-5 (2003) DOI:10.1016/S0888-7543(02)00014-9 /// ENTRY 282617v1 Variant NAME IL28B rs12979860 GENE IFNL3 interferon lambda 3 [KO:K22669] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION Single nucleotide variant ClinVar: 225949 dbSNP: rs12979860 REFERENCE PMID:19684573 AUTHORS Ge D, Fellay J, Thompson AJ, Simon JS, Shianna KV, Urban TJ, Heinzen EL, Qiu P, Bertelsen AH, Muir AJ, Sulkowski M, McHutchison JG, Goldstein DB TITLE Genetic variation in IL28B predicts hepatitis C treatment-induced viral clearance. JOURNAL Nature 461:399-401 (2009) DOI:10.1038/nature08309 /// ENTRY 284098v1 Variant NAME PIGW deficiency GENE PIGW phosphatidylinositol glycan anchor biosynthesis class W [KO:K05283] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 610275 NETWORK nt06018 GPI-anchor biosynthesis DISEASE H01488 Hyperphosphatasia with mental retardation syndrome REFERENCE PMID:24367057 AUTHORS Chiyonobu T, Inoue N, Morimoto M, Kinoshita T, Murakami Y TITLE Glycosylphosphatidylinositol (GPI) anchor deficiency caused by mutations in PIGW is associated with West syndrome and hyperphosphatasia with mental retardation syndrome. JOURNAL J Med Genet 51:203-7 (2014) DOI:10.1136/jmedgenet-2013-102156 /// ENTRY 284184v1 Variant NAME NDUFAF8 mutation GENE NDUFAF8 NADH:ubiquinone oxidoreductase complex assembly factor 8 [KO:K24726] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 618461 NETWORK nt06529 Thermogenesis DISEASE H00473 Mitochondrial complex I deficiency REFERENCE PMID:31866046 AUTHORS Alston CL, Veling MT, Heidler J, Taylor LS, Alaimo JT, Sung AY, He L, Hopton S, Broomfield A, Pavaine J, Diaz J, Leon E, Wolf P, McFarland R, Prokisch H, Wortmann SB, Bonnen PE, Wittig I, Pagliarini DJ, Taylor RW TITLE Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency. JOURNAL Am J Hum Genet 106:92-101 (2020) DOI:10.1016/j.ajhg.2019.12.001 /// ENTRY 286053v1 Variant NAME NSMCE2 mutation GENE NSMCE2 NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase [KO:K22756] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 617246 NETWORK nt06506 Double-strand break repair DISEASE H00992 Seckel syndrome REFERENCE PMID:25105364 AUTHORS Payne F, Colnaghi R, Rocha N, Seth A, Harris J, Carpenter G, Bottomley WE, Wheeler E, Wong S, Saudek V, Savage D, O'Rahilly S, Carel JC, Barroso I, O'Driscoll M, Semple R TITLE Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance. JOURNAL J Clin Invest 124:4028-38 (2014) DOI:10.1172/JCI73264 /// ENTRY 2876v1 Variant NAME GPX1 deficiency GENE GPX1 glutathione peroxidase 1 [KO:K00432] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 138320 NETWORK nt06026 Glutathione biosynthesis DISEASE H00668 Anemia due to disorders of glutathione metabolism REFERENCE PMID:1131421 AUTHORS Beutler E, Matsumoto F TITLE Ethnic variation in red cell glutathione peroxidase activity. JOURNAL Blood 46:103-10 (1975) /// ENTRY 2879v1 Variant NAME GPX4 mutation GENE GPX4 glutathione peroxidase 4 [KO:K05361] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 138322 NETWORK nt06026 Glutathione biosynthesis nt06525 Ferroptosis DISEASE H01825 Spondylometaphyseal dysplasia, Sedaghatian type REFERENCE PMID:24706940 AUTHORS Smith AC, Mears AJ, Bunker R, Ahmed A, MacKenzie M, Schwartzentruber JA, Beaulieu CL, Ferretti E, Majewski J, Bulman DE, Celik FC, Boycott KM, Graham GE TITLE Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasia. JOURNAL J Med Genet 51:470-4 (2014) DOI:10.1136/jmedgenet-2013-102218 REFERENCE PMID:30219704 AUTHORS Seibt TM, Proneth B, Conrad M TITLE Role of GPX4 in ferroptosis and its pharmacological implication. JOURNAL Free Radic Biol Med 133:144-152 (2019) DOI:10.1016/j.freeradbiomed.2018.09.014 /// ENTRY 28958v1 Variant NAME COA3 mutation GENE COA3 cytochrome c oxidase assembly factor 3 [KO:K18175] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 614775 NETWORK nt06529 Thermogenesis DISEASE H01368 Cytochrome c oxidase (COX) deficiency REFERENCE PMID:25604084 AUTHORS Ostergaard E, Weraarpachai W, Ravn K, Born AP, Jonson L, Duno M, Wibrand F, Shoubridge EA, Vissing J TITLE Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature. JOURNAL J Med Genet 52:203-7 (2015) DOI:10.1136/jmedgenet-2014-102914 /// ENTRY 28v1 Variant NAME ABO A allele GENE ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase [KO:K00709] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION polymorphism OmimVar: 110300 NETWORK nt06035 Blood group carbohydrate antigen biosynthesis REFERENCE PMID:2333095 AUTHORS Yamamoto F, Clausen H, White T, Marken J, Hakomori S TITLE Molecular genetic basis of the histo-blood group ABO system. JOURNAL Nature 345:229-33 (1990) DOI:10.1038/345229a0 /// ENTRY 28v2 Variant NAME ABO B allele GENE ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase [KO:K00709] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION polymorphism OmimVar: 110300 NETWORK nt06035 Blood group carbohydrate antigen biosynthesis REFERENCE PMID:2333095 AUTHORS Yamamoto F, Clausen H, White T, Marken J, Hakomori S TITLE Molecular genetic basis of the histo-blood group ABO system. JOURNAL Nature 345:229-33 (1990) DOI:10.1038/345229a0 /// ENTRY 28v3 Variant NAME ABO O allele GENE ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase [KO:K00709] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION polymorphism OmimVar: 110300 NETWORK nt06035 Blood group carbohydrate antigen biosynthesis REFERENCE PMID:2333095 AUTHORS Yamamoto F, Clausen H, White T, Marken J, Hakomori S TITLE Molecular genetic basis of the histo-blood group ABO system. JOURNAL Nature 345:229-33 (1990) DOI:10.1038/345229a0 /// ENTRY 28v4 Variant NAME ABO A2 allele GENE ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase [KO:K00709] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION polymorphism OmimVar: 110300 NETWORK nt06035 Blood group carbohydrate antigen biosynthesis REFERENCE PMID:2333095 AUTHORS Yamamoto F, Clausen H, White T, Marken J, Hakomori S TITLE Molecular genetic basis of the histo-blood group ABO system. JOURNAL Nature 345:229-33 (1990) DOI:10.1038/345229a0 /// ENTRY 2902v1 Variant NAME GRIN1 mutation GENE GRIN1 glutamate ionotropic receptor NMDA type subunit 1 [KO:K05208] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 138249 NETWORK nt06528 Calcium signaling DISEASE H00606 Early infantile epileptic encephalopathy H00773 Autosomal dominant intellectual developmental disorder H02397 Neurodevelopmental disorder with movement abnormalities or hypotonia REFERENCE PMID:29124671 AUTHORS Xu XX, Luo JH TITLE Mutations of N-Methyl-D-Aspartate Receptor Subunits in Epilepsy. JOURNAL Neurosci Bull 34:549-565 (2018) DOI:10.1007/s12264-017-0191-5 REFERENCE PMID:27164704 AUTHORS Lemke JR, Geider K, Helbig KL, Heyne HO, Schutz H, Hentschel J, Courage C, Depienne C, Nava C, Heron D, Moller RS, Hjalgrim H, Lal D, Neubauer BA, Nurnberg P, Thiele H, Kurlemann G, Arnold GL, Bhambhani V, Bartholdi D, Pedurupillay CR, Misceo D, Frengen E, Stromme P, Dlugos DJ, Doherty ES, Bijlsma EK, Ruivenkamp CA, Hoffer MJ, Goldstein A, Rajan DS, Narayanan V, Ramsey K, Belnap N, Schrauwen I, Richholt R, Koeleman BP, Sa J, Mendonca C, de Kovel CG, Weckhuysen S, Hardies K, De Jonghe P, De Meirleir L, Milh M, Badens C, Lebrun M, Busa T, Francannet C, Piton A, Riesch E, Biskup S, Vogt H, Dorn T, Helbig I, Michaud JL, Laube B, Syrbe S TITLE Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. JOURNAL Neurology 86:2171-8 (2016) DOI:10.1212/WNL.0000000000002740 /// ENTRY 2903v1 Variant NAME GRIN2A mutation GENE GRIN2A glutamate ionotropic receptor NMDA type subunit 2A [KO:K05209] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 138253 NETWORK nt06528 Calcium signaling DISEASE H01514 Landau-Kleffner syndrome REFERENCE PMID:23933820 AUTHORS Lesca G, Rudolf G, Bruneau N, Lozovaya N, Labalme A, Boutry-Kryza N, Salmi M, Tsintsadze T, Addis L, Motte J, Wright S, Tsintsadze V, Michel A, Doummar D, Lascelles K, Strug L, Waters P, de Bellescize J, Vrielynck P, de Saint Martin A, Ville D, Ryvlin P, Arzimanoglou A, Hirsch E, Vincent A, Pal D, Burnashev N, Sanlaville D, Szepetowski P TITLE GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction. JOURNAL Nat Genet 45:1061-6 (2013) DOI:10.1038/ng.2726 REFERENCE PMID:29124671 AUTHORS Xu XX, Luo JH TITLE Mutations of N-Methyl-D-Aspartate Receptor Subunits in Epilepsy. JOURNAL Neurosci Bull 34:549-565 (2018) DOI:10.1007/s12264-017-0191-5 /// ENTRY 2904v1 Variant NAME GRIN2B mutation GENE GRIN2B glutamate ionotropic receptor NMDA type subunit 2B [KO:K05210] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 138252 NETWORK nt06528 Calcium signaling DISEASE H00606 Early infantile epileptic encephalopathy H00773 Autosomal dominant intellectual developmental disorder REFERENCE PMID:24272827 AUTHORS Lemke JR, Hendrickx R, Geider K, Laube B, Schwake M, Harvey RJ, James VM, Pepler A, Steiner I, Hortnagel K, Neidhardt J, Ruf S, Wolff M, Bartholdi D, Caraballo R, Platzer K, Suls A, De Jonghe P, Biskup S, Weckhuysen S TITLE GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy. JOURNAL Ann Neurol 75:147-54 (2014) DOI:10.1002/ana.24073 REFERENCE PMID:28377535 AUTHORS Platzer K, Yuan H, Schutz H, Winschel A, Chen W, Hu C, Kusumoto H, Heyne HO, Helbig KL, Tang S, Willing MC, Tinkle BT, Adams DJ, Depienne C, Keren B, Mignot C, Frengen E, Stromme P, Biskup S, Docker D, Strom TM, Mefford HC, Myers CT, Muir AM, LaCroix A, Sadleir L, Scheffer IE, Brilstra E, van Haelst MM, van der Smagt JJ, Bok LA, Moller RS, Jensen UB, Millichap JJ, Berg AT, Goldberg EM, De Bie I, Fox S, Major P, Jones JR, Zackai EH, Abou Jamra R, Rolfs A, Leventer RJ, Lawson JA, Roscioli T, Jansen FE, Ranza E, Korff CM, Lehesjoki AE, Courage C, Linnankivi T, Smith DR, Stanley C, Mintz M, McKnight D, Decker A, Tan WH, Tarnopolsky MA, Brady LI, Wolff M, Dondit L, Pedro HF, Parisotto SE, Jones KL, Patel AD, Franz DN, Vanzo R, Marco E, Ranells JD, Di Donato N, Dobyns WB, Laube B, Traynelis SF, Lemke JR TITLE GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects. JOURNAL J Med Genet 54:460-470 (2017) DOI:10.1136/jmedgenet-2016-104509 /// ENTRY 2906v1 Variant NAME GRIN2D mutation GENE GRIN2D glutamate ionotropic receptor NMDA type subunit 2D [KO:K05212] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 602717 NETWORK nt06528 Calcium signaling DISEASE H00606 Early infantile epileptic encephalopathy REFERENCE PMID:29124671 AUTHORS Xu XX, Luo JH TITLE Mutations of N-Methyl-D-Aspartate Receptor Subunits in Epilepsy. JOURNAL Neurosci Bull 34:549-565 (2018) DOI:10.1007/s12264-017-0191-5 /// ENTRY 29078v1 Variant NAME NDUFAF4 mutation GENE NDUFAF4 NADH:ubiquinone oxidoreductase complex assembly factor 4 [KO:K18161] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 611776 NETWORK nt06529 Thermogenesis DISEASE H00473 Mitochondrial complex I deficiency REFERENCE PMID:28853723 AUTHORS Baertling F, Sanchez-Caballero L, van den Brand MAM, Wintjes LT, Brink M, van den Brandt FA, Wilson C, Rodenburg RJT, Nijtmans LGJ TITLE NDUFAF4 variants are associated with Leigh syndrome and cause a specific mitochondrial complex I assembly defect. JOURNAL Eur J Hum Genet 25:1273-1277 (2017) DOI:10.1038/ejhg.2017.133 /// ENTRY 29089v1 Variant NAME UBE2T mutation GENE UBE2T ubiquitin conjugating enzyme E2 T [KO:K13960] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 610538 NETWORK nt06508 Interstrand crosslink repair DISEASE H00238 Fanconi anemia REFERENCE PMID:26046368 AUTHORS Hira A, Yoshida K, Sato K, Okuno Y, Shiraishi Y, Chiba K, Tanaka H, Miyano S, Shimamoto A, Tahara H, Ito E, Kojima S, Kurumizaka H, Ogawa S, Takata M, Yabe H, Yabe M TITLE Mutations in the gene encoding the E2 conjugating enzyme UBE2T cause Fanconi anemia. JOURNAL Am J Hum Genet 96:1001-7 (2015) DOI:10.1016/j.ajhg.2015.04.022 /// ENTRY 2908v1 Variant NAME NR3C1 mutation GENE NR3C1 nuclear receptor subfamily 3 group C member 1 [KO:K05771] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 138040 NETWORK nt06310 CRH-ACTH-cortisol signaling DISEASE H01702 Glucocorticoid resistance syndrome REFERENCE PMID:27086682 AUTHORS Nicolaides N, Lamprokostopoulou A, Sertedaki A, Charmandari E TITLE Recent advances in the molecular mechanisms causing primary generalized glucocorticoid resistance. JOURNAL Hormones (Athens) 15:23-34 (2016) DOI:10.14310/horm.2002.1660 REFERENCE PMID:29685454 AUTHORS Vitellius G, Trabado S, Bouligand J, Delemer B, Lombes M TITLE Pathophysiology of Glucocorticoid Signaling. JOURNAL Ann Endocrinol (Paris) 79:98-106 (2018) DOI:10.1016/j.ando.2018.03.001 REFERENCE PMID:29762667 AUTHORS Kino T TITLE Single Nucleotide Variations of the Human GR Gene Manifested as Pathologic Mutations or Polymorphisms. JOURNAL Endocrinology 159:2506-2519 (2018) DOI:10.1210/en.2017-03254 /// ENTRY 29110v1 Variant NAME TBK1 mutation GENE TBK1 TANK binding kinase 1 [KO:K05410] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 604834 NETWORK nt06464 Amyotrophic lateral sclerosis nt06466 Pathways of neurodegeneration nt06517 TLR signaling DISEASE H00058 Amyotrophic lateral sclerosis (ALS) H02536 Infection-induced acute encephalopathy REFERENCE PMID:28852382 AUTHORS Khalil B, Lievens JC TITLE Mitochondrial quality control in amyotrophic lateral sclerosis: towards a common pathway? JOURNAL Neural Regen Res 12:1052-1061 (2017) DOI:10.4103/1673-5374.211179 REFERENCE PMID:25943890 AUTHORS Pottier C, Bieniek KF, Finch N, van de Vorst M, Baker M, Perkersen R, Brown P, Ravenscroft T, van Blitterswijk M, Nicholson AM, DeTure M, Knopman DS, Josephs KA, Parisi JE, Petersen RC, Boylan KB, Boeve BF, Graff-Radford NR, Veltman JA, Gilissen C, Murray ME, Dickson DW, Rademakers R TITLE Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease. JOURNAL Acta Neuropathol 130:77-92 (2015) DOI:10.1007/s00401-015-1436-x REFERENCE PMID:22851595 AUTHORS Herman M, Ciancanelli M, Ou YH, Lorenzo L, Klaudel-Dreszler M, Pauwels E, Sancho-Shimizu V, Perez de Diego R, Abhyankar A, Israelsson E, Guo Y, Cardon A, Rozenberg F, Lebon P, Tardieu M, Heropolitanska-Pliszka E, Chaussabel D, White MA, Abel L, Zhang SY, Casanova JL TITLE Heterozygous TBK1 mutations impair TLR3 immunity and underlie herpes simplex encephalitis of childhood. JOURNAL J Exp Med 209:1567-82 (2012) DOI:10.1084/jem.20111316 /// ENTRY 2911v1 Variant NAME GRM1 mutation GENE GRM1 glutamate metabotropic receptor 1 [KO:K04603] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 604473 NETWORK nt06462 Spinocerebellar ataxia nt06466 Pathways of neurodegeneration nt06528 Calcium signaling DISEASE H00063 Spinocerebellar ataxia (SCA) H01891 Autosomal recessive spinocerebellar ataxias REFERENCE PMID:28886343 AUTHORS Watson LM, Bamber E, Schnekenberg RP, Williams J, Bettencourt C, Lickiss J, Jayawant S, Fawcett K, Clokie S, Wallis Y, Clouston P, Sims D, Houlden H, Becker EBE, Nemeth AH TITLE Dominant Mutations in GRM1 Cause Spinocerebellar Ataxia Type 44. JOURNAL Am J Hum Genet 101:451-458 (2017) DOI:10.1016/j.ajhg.2017.08.005 /// ENTRY 2936v1 Variant NAME GSR deficiency GENE GSR glutathione-disulfide reductase [KO:K00383] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 138300 NETWORK nt06026 Glutathione biosynthesis DISEASE H00668 Anemia due to disorders of glutathione metabolism REFERENCE PMID:17185460 AUTHORS Kamerbeek NM, van Zwieten R, de Boer M, Morren G, Vuil H, Bannink N, Lincke C, Dolman KM, Becker K, Schirmer RH, Gromer S, Roos D TITLE Molecular basis of glutathione reductase deficiency in human blood cells. JOURNAL Blood 109:3560-6 (2007) DOI:10.1182/blood-2006-08-042531 /// ENTRY 2937v1 Variant NAME GSS deficiency GENE GSS glutathione synthetase [KO:K21456] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 601002 NETWORK nt06026 Glutathione biosynthesis nt06525 Ferroptosis DISEASE H00668 Anemia due to disorders of glutathione metabolism H02312 Glutathione synthetase deficiency REFERENCE PMID:8896573 AUTHORS Shi ZZ, Habib GM, Rhead WJ, Gahl WA, He X, Sazer S, Lieberman MW TITLE Mutations in the glutathione synthetase gene cause 5-oxoprolinuria. JOURNAL Nat Genet 14:361-5 (1996) DOI:10.1038/ng1196-361 REFERENCE PMID:29340523 AUTHORS Xia H, Ye J, Wang L, Zhu J, He Z TITLE A case of severe glutathione synthetase deficiency with novel GSS mutations. JOURNAL Braz J Med Biol Res 51:e6853 (2018) DOI:10.1590/1414-431X20176853 /// ENTRY 2956v1 Variant NAME MSH6 mutation GENE MSH6 mutS homolog 6 [KO:K08737] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 600678 NETWORK nt06503 Mismatch repair DISEASE H02565 Hereditary nonpolyposis colorectal cancer REFERENCE PMID:9354786 AUTHORS Miyaki M, Konishi M, Tanaka K, Kikuchi-Yanoshita R, Muraoka M, Yasuno M, Igari T, Koike M, Chiba M, Mori T TITLE Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer. JOURNAL Nat Genet 17:271-2 (1997) DOI:10.1038/ng1197-271 REFERENCE PMID:34445333 AUTHORS Frederiksen JH, Jensen SB, Tumer Z, Hansen TVO TITLE Classification of MSH6 Variants of Uncertain Significance Using Functional Assays. JOURNAL Int J Mol Sci 22:8627 (2021) DOI:10.3390/ijms22168627 /// ENTRY 29760v1 Variant NAME BLNK mutation GENE BLNK B cell linker [KO:K07371] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 604515 NETWORK nt06528 Calcium signaling DISEASE H00085 Agammaglobulinemias REFERENCE PMID:34241796 AUTHORS Cardenas-Morales M, Hernandez-Trujillo VP TITLE Agammaglobulinemia: from X-linked to Autosomal Forms of Disease. JOURNAL Clin Rev Allergy Immunol 63:22-35 (2022) DOI:10.1007/s12016-021-08870-5 /// ENTRY 29851v1 Variant NAME ICOS mutation GENE ICOS inducible T cell costimulator [KO:K06713] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 604558 NETWORK nt06530 PI3K signaling DISEASE H00088 Common variable immunodeficiency REFERENCE PMID:31858365 AUTHORS Abolhassani H, El-Sherbiny YM, Arumugakani G, Carter C, Richards S, Lawless D, Wood P, Buckland M, Heydarzadeh M, Aghamohammadi A, Hambleton S, Hammarstrom L, Burns SO, Doffinger R, Savic S TITLE Expanding Clinical Phenotype and Novel Insights into the Pathogenesis of ICOS Deficiency. JOURNAL J Clin Immunol 40:277-288 (2020) DOI:10.1007/s10875-019-00735-z /// ENTRY 2990v1 Variant NAME GUSB deficiency GENE GUSB glucuronidase beta [KO:K01195] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 611499 NETWORK nt06012 Glycosaminoglycan degradation DISEASE H00132 Mucopolysaccharidosis type VII DRUG_TARGET Vestronidase alfa: D11004 REFERENCE PMID:7633414 AUTHORS Yamada S, Tomatsu S, Sly WS, Islam R, Wenger DA, Fukuda S, Sukegawa K, Orii T TITLE Four novel mutations in mucopolysaccharidosis type VII including a unique base substitution in exon 10 of the beta-glucuronidase gene that creates a novel 5'-splice site. JOURNAL Hum Mol Genet 4:651-5 (1995) DOI:10.1093/hmg/4.4.651 /// ENTRY 29929v1 Variant NAME ALG6 deficiency GENE ALG6 ALG6 alpha-1,3-glucosyltransferase [KO:K03848] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 604566 NETWORK nt06015 N-Glycan biosynthesis DISEASE H00118 Congenital disorders of glycosylation type I REFERENCE PMID:10359825 AUTHORS Imbach T, Burda P, Kuhnert P, Wevers RA, Aebi M, Berger EG, Hennet T TITLE A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic. JOURNAL Proc Natl Acad Sci U S A 96:6982-7 (1999) DOI:10.1073/pnas.96.12.6982 /// ENTRY 2992v1 Variant NAME GYG1 deficiency GENE GYG1 glycogenin 1 [KO:K00750] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 603942 NETWORK nt06017 Glycogen metabolism DISEASE H01955 Glycogen storage disease type XV REFERENCE PMID:20357282 AUTHORS Moslemi AR, Lindberg C, Nilsson J, Tajsharghi H, Andersson B, Oldfors A TITLE Glycogenin-1 deficiency and inactivated priming of glycogen synthesis. JOURNAL N Engl J Med 362:1203-10 (2010) DOI:10.1056/NEJMoa0900661 /// ENTRY 29940v1 Variant NAME DSE mutation GENE DSE dermatan sulfate epimerase [KO:K01794] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 605942 NETWORK nt06029 Glycosaminoglycan biosynthesis DISEASE H02246 Ehlers-Danlos syndrome musculocontractural type REFERENCE PMID:23704329 AUTHORS Muller T, Mizumoto S, Suresh I, Komatsu Y, Vodopiutz J, Dundar M, Straub V, Lingenhel A, Melmer A, Lechner S, Zschocke J, Sugahara K, Janecke AR TITLE Loss of dermatan sulfate epimerase (DSE) function results in musculocontractural Ehlers-Danlos syndrome. JOURNAL Hum Mol Genet 22:3761-72 (2013) DOI:10.1093/hmg/ddt227 /// ENTRY 29954v1 Variant NAME POMT2 deficiency GENE POMT2 protein O-mannosyltransferase 2 [KO:K00728] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 607439 NETWORK nt06013 O-Glycan biosynthesis DISEASE H02307 Muscular dystrophy-dystroglycanopathy REFERENCE PMID:15894594 AUTHORS van Reeuwijk J, Janssen M, van den Elzen C, Beltran-Valero de Bernabe D, Sabatelli P, Merlini L, Boon M, Scheffer H, Brockington M, Muntoni F, Huynen MA, Verrips A, Walsh CA, Barth PG, Brunner HG, van Bokhoven H TITLE POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome. JOURNAL J Med Genet 42:907-12 (2005) DOI:10.1136/jmg.2005.031963 /// ENTRY 29968v1 Variant NAME PSAT1 deficiency GENE PSAT1 phosphoserine aminotransferase 1 [KO:K00831] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 610936 NETWORK nt06033 Glycine, serine and arginine metabolism DISEASE H01082 Phosphoserine aminotransferase deficiency H02117 Neu-Laxova syndrome REFERENCE PMID:17436247 AUTHORS Hart CE, Race V, Achouri Y, Wiame E, Sharrard M, Olpin SE, Watkinson J, Bonham JR, Jaeken J, Matthijs G, Van Schaftingen E TITLE Phosphoserine aminotransferase deficiency: a novel disorder of the serine biosynthesis pathway. JOURNAL Am J Hum Genet 80:931-7 (2007) DOI:10.1086/517888 /// ENTRY 29978v1 Variant NAME UBQLN2 mutation GENE UBQLN2 ubiquilin 2 [KO:K04523] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 300264 NETWORK nt06464 Amyotrophic lateral sclerosis nt06466 Pathways of neurodegeneration DISEASE H00058 Amyotrophic lateral sclerosis (ALS) REFERENCE PMID:21857683 AUTHORS Deng HX, Chen W, Hong ST, Boycott KM, Gorrie GH, Siddique N, Yang Y, Fecto F, Shi Y, Zhai H, Jiang H, Hirano M, Rampersaud E, Jansen GH, Donkervoort S, Bigio EH, Brooks BR, Ajroud K, Sufit RL, Haines JL, Mugnaini E, Pericak-Vance MA, Siddique T TITLE Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia. JOURNAL Nature 477:211-5 (2011) DOI:10.1038/nature10353 /// ENTRY 2997v1 Variant NAME GYS1 deficiency GENE GYS1 glycogen synthase 1 [KO:K00693] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 138570 NETWORK nt06017 Glycogen metabolism DISEASE H01949 Glycogen storage disease type 0b REFERENCE PMID:17928598 AUTHORS Kollberg G, Tulinius M, Gilljam T, Ostman-Smith I, Forsander G, Jotorp P, Oldfors A, Holme E TITLE Cardiomyopathy and exercise intolerance in muscle glycogen storage disease 0. JOURNAL N Engl J Med 357:1507-14 (2007) DOI:10.1056/NEJMoa066691 /// ENTRY 2998v1 Variant NAME GYS2 deficiency GENE GYS2 glycogen synthase 2 [KO:K00693] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 138571 NETWORK nt06017 Glycogen metabolism DISEASE H01950 Glycogen storage disease type 0a REFERENCE PMID:9691087 AUTHORS Orho M, Bosshard NU, Buist NR, Gitzelmann R, Aynsley-Green A, Blumel P, Gannon MC, Nuttall FQ, Groop LC TITLE Mutations in the liver glycogen synthase gene in children with hypoglycemia due to glycogen storage disease type 0. JOURNAL J Clin Invest 102:507-15 (1998) DOI:10.1172/JCI2890 /// ENTRY 30061v1 Variant NAME SLC40A1 mutation GENE SLC40A1 solute carrier family 40 member 1 [KO:K14685] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 604653 NETWORK nt06525 Ferroptosis DISEASE H00211 Hemochromatosis REFERENCE PMID:35942174 AUTHORS Xu P, Ge FH, Li WX, Xu Z, Wang XL, Shen JL, Xu AB, Hao RR TITLE MicroRNA-147a Targets SLC40A1 to Induce Ferroptosis in Human Glioblastoma. JOURNAL Anal Cell Pathol (Amst) 2022:2843990 (2022) DOI:10.1155/2022/2843990 REFERENCE PMID:28195347 AUTHORS Wang H, An P, Xie E, Wu Q, Fang X, Gao H, Zhang Z, Li Y, Wang X, Zhang J, Li G, Yang L, Liu W, Min J, Wang F TITLE Characterization of ferroptosis in murine models of hemochromatosis. JOURNAL Hepatology 66:449-465 (2017) DOI:10.1002/hep.29117 /// ENTRY 3020v1 Variant NAME H3-3A mutation GENE H3-3A H3.3 histone A [KO:K11253] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 601128 NETWORK nt06523 Epigenetic regulation by Polycomb complexes DISEASE H02617 Bryant-Li-Bhoj neurodevelopmental syndrome REFERENCE PMID:33268356 AUTHORS Bryant L, Li D, Cox SG, Marchione D, Joiner EF, Wilson K, Janssen K, Lee P, March ME, Nair D, Sherr E, Fregeau B, Wierenga KJ, Wadley A, Mancini GMS, Powell-Hamilton N, van de Kamp J, Grebe T, Dean J, Ross A, Crawford HP, Powis Z, Cho MT, Willing MC, Manwaring L, Schot R, Nava C, Afenjar A, Lessel D, Wagner M, Klopstock T, Winkelmann J, Catarino CB, Retterer K, Schuette JL, Innis JW, Pizzino A, Luttgen S, Denecke J, Strom TM, Monaghan KG, Yuan ZF, Dubbs H, Bend R, Lee JA, Lyons MJ, Hoefele J, Gunthner R, Reutter H, Keren B, Radtke K, Sherbini O, Mrokse C, Helbig KL, Odent S, Cogne B, Mercier S, Bezieau S, Besnard T, Kury S, Redon R, Reinson K, Wojcik MH, Ounap K, Ilves P, Innes AM, Kernohan KD, Costain G, Meyn MS, Chitayat D, Zackai E, Lehman A, Kitson H, Martin MG, Martinez-Agosto JA, Nelson SF, Palmer CGS, Papp JC, Parker NH, Sinsheimer JS, Vilain E, Wan J, Yoon AJ, Zheng A, Brimble E, Ferrero GB, Radio FC, Carli D, Barresi S, Brusco A, Tartaglia M, Thomas JM, Umana L, Weiss MM, Gotway G, Stuurman KE, Thompson ML, McWalter K, Stumpel CTRM, Stevens SJC, Stegmann APA, Tveten K, Vollo A, Prescott T, Fagerberg C, Laulund LW, Larsen MJ, Byler M, Lebel RR, Hurst AC, Dean J, Schrier Vergano SA, Norman J, Mercimek-Andrews S, Neira J, Van Allen MI, Longo N, Sellars E, Louie RJ, Cathey SS, Brokamp E, Heron D, Snyder M, Vanderver A, Simon C, de la Cruz X, Padilla N, Crump JG, Chung W, Garcia B, Hakonarson HH, Bhoj EJ TITLE Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients. JOURNAL Sci Adv 6:6/49/eabc9207 (2020) DOI:10.1126/sciadv.abc9207 /// ENTRY 3021v1 Variant NAME H3-3B mutation GENE H3-3B H3.3 histone B [KO:K11253] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 601058 NETWORK nt06523 Epigenetic regulation by Polycomb complexes DISEASE H02617 Bryant-Li-Bhoj neurodevelopmental syndrome REFERENCE PMID:33268356 AUTHORS Bryant L, Li D, Cox SG, Marchione D, Joiner EF, Wilson K, Janssen K, Lee P, March ME, Nair D, Sherr E, Fregeau B, Wierenga KJ, Wadley A, Mancini GMS, Powell-Hamilton N, van de Kamp J, Grebe T, Dean J, Ross A, Crawford HP, Powis Z, Cho MT, Willing MC, Manwaring L, Schot R, Nava C, Afenjar A, Lessel D, Wagner M, Klopstock T, Winkelmann J, Catarino CB, Retterer K, Schuette JL, Innis JW, Pizzino A, Luttgen S, Denecke J, Strom TM, Monaghan KG, Yuan ZF, Dubbs H, Bend R, Lee JA, Lyons MJ, Hoefele J, Gunthner R, Reutter H, Keren B, Radtke K, Sherbini O, Mrokse C, Helbig KL, Odent S, Cogne B, Mercier S, Bezieau S, Besnard T, Kury S, Redon R, Reinson K, Wojcik MH, Ounap K, Ilves P, Innes AM, Kernohan KD, Costain G, Meyn MS, Chitayat D, Zackai E, Lehman A, Kitson H, Martin MG, Martinez-Agosto JA, Nelson SF, Palmer CGS, Papp JC, Parker NH, Sinsheimer JS, Vilain E, Wan J, Yoon AJ, Zheng A, Brimble E, Ferrero GB, Radio FC, Carli D, Barresi S, Brusco A, Tartaglia M, Thomas JM, Umana L, Weiss MM, Gotway G, Stuurman KE, Thompson ML, McWalter K, Stumpel CTRM, Stevens SJC, Stegmann APA, Tveten K, Vollo A, Prescott T, Fagerberg C, Laulund LW, Larsen MJ, Byler M, Lebel RR, Hurst AC, Dean J, Schrier Vergano SA, Norman J, Mercimek-Andrews S, Neira J, Van Allen MI, Longo N, Sellars E, Louie RJ, Cathey SS, Brokamp E, Heron D, Snyder M, Vanderver A, Simon C, de la Cruz X, Padilla N, Crump JG, Chung W, Garcia B, Hakonarson HH, Bhoj EJ TITLE Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients. JOURNAL Sci Adv 6:6/49/eabc9207 (2020) DOI:10.1126/sciadv.abc9207 /// ENTRY 3028v1 Variant NAME HSD17B10 deficiency GENE HSD17B10 hydroxysteroid 17-beta dehydrogenase 10 [KO:K08683] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 300256 NETWORK nt06024 Valine, leucine and isoleucine degradation DISEASE H00925 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency REFERENCE PMID:12696021 AUTHORS Ofman R, Ruiter JP, Feenstra M, Duran M, Poll-The BT, Zschocke J, Ensenauer R, Lehnert W, Sass JO, Sperl W, Wanders RJ TITLE 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene. JOURNAL Am J Hum Genet 72:1300-7 (2003) DOI:10.1086/375116 /// ENTRY 3030v1 Variant NAME HADHA deficiency GENE HADHA hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha [KO:K07515] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 600890 NETWORK nt06020 beta-Oxidation in mitochondria DISEASE H00489 LCHAD deficiency REFERENCE PMID:20583174 AUTHORS Baskin B, Geraghty M, Ray PN TITLE Paternal isodisomy of chromosome 2 as a cause of long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency. JOURNAL Am J Med Genet A 152A:1808-11 (2010) DOI:10.1002/ajmg.a.33462 /// ENTRY 3032v1 Variant NAME HADHB deficiency GENE HADHB hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta [KO:K07509] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 143450 NETWORK nt06020 beta-Oxidation in mitochondria DISEASE H01352 Mitochondrial trifunctional protein deficiency REFERENCE PMID:7738175 AUTHORS Brackett JC, Sims HF, Rinaldo P, Shapiro S, Powell CK, Bennett MJ, Strauss AW TITLE Two alpha subunit donor splice site mutations cause human trifunctional protein deficiency. JOURNAL J Clin Invest 95:2076-82 (1995) DOI:10.1172/JCI117894 REFERENCE PMID:19880769 AUTHORS Park HD, Kim SR, Ki CS, Lee SY, Chang YS, Jin DK, Park WS TITLE Two novel HADHB gene mutations in a Korean patient with mitochondrial trifunctional protein deficiency. JOURNAL Ann Clin Lab Sci 39:399-404 (2009) /// ENTRY 3033v1 Variant NAME HADH deficiency GENE HADH hydroxyacyl-CoA dehydrogenase [KO:K00022] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 601609 NETWORK nt06020 beta-Oxidation in mitochondria DISEASE H01364 3-Hydroxyacyl-CoA dehydrogenase deficiency REFERENCE PMID:10931422 AUTHORS Treacy EP, Lambert DM, Barnes R, Boriack RL, Vockley J, O'brien LK, Jones PM, Bennett MJ TITLE Short-chain hydroxyacyl-coenzyme A dehydrogenase deficiency presenting as unexpected infant death: A family study. JOURNAL J Pediatr 137:257-9 (2000) DOI:10.1067/mpd.2000.107467 /// ENTRY 3034v1 Variant NAME HAL deficiency GENE HAL histidine ammonia-lyase [KO:K01745] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 609457 NETWORK nt06037 Histidine metabolism DISEASE H00171 Histidinemia REFERENCE PMID:15806399 AUTHORS Kawai Y, Moriyama A, Asai K, Coleman-Campbell CM, Sumi S, Morishita H, Suchi M TITLE Molecular characterization of histidinemia: identification of four missense mutations in the histidase gene. JOURNAL Hum Genet 116:340-6 (2005) DOI:10.1007/s00439-004-1232-5 /// ENTRY 3053v1 Variant NAME SERPIND1 mutation GENE SERPIND1 serpin family D member 1 [KO:K03912] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 142360 NETWORK nt06514 Coagulation cascade DISEASE H00223 Inherited thrombophilia REFERENCE PMID:19141163 AUTHORS Patnaik MM, Moll S TITLE Inherited antithrombin deficiency: a review. JOURNAL Haemophilia 14:1229-39 (2008) DOI:10.1111/j.1365-2516.2008.01830.x /// ENTRY 3054v1 Variant NAME HCFC1 mutation GENE HCFC1 host cell factor C1 [KO:K14966] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 300019 NETWORK nt06523 Epigenetic regulation by Polycomb complexes DISEASE H00480 X-linked intellectual developmental disorder H02222 Methylmalonic acidemia and hyperhomocysteinemia, cblX type REFERENCE PMID:23000143 AUTHORS Huang L, Jolly LA, Willis-Owen S, Gardner A, Kumar R, Douglas E, Shoubridge C, Wieczorek D, Tzschach A, Cohen M, Hackett A, Field M, Froyen G, Hu H, Haas SA, Ropers HH, Kalscheuer VM, Corbett MA, Gecz J TITLE A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability. JOURNAL Am J Hum Genet 91:694-702 (2012) DOI:10.1016/j.ajhg.2012.08.011 REFERENCE PMID:24011988 AUTHORS Yu HC, Sloan JL, Scharer G, Brebner A, Quintana AM, Achilly NP, Manoli I, Coughlin CR 2nd, Geiger EA, Schneck U, Watkins D, Suormala T, Van Hove JL, Fowler B, Baumgartner MR, Rosenblatt DS, Venditti CP, Shaikh TH TITLE An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1. JOURNAL Am J Hum Genet 93:506-14 (2013) DOI:10.1016/j.ajhg.2013.07.022 /// ENTRY 3064v1 Variant NAME HTT mutation GENE HTT huntingtin [KO:K04533] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 613004 NETWORK nt06461 Huntington disease nt06466 Pathways of neurodegeneration DISEASE H00059 Huntington disease DRUG_TARGET Tominersen (DG03151): D12012 D12013 REFERENCE PMID:20301482 AUTHORS Caron NS, Wright GEB, Hayden MR TITLE Huntington Disease JOURNAL GeneReviews (1993) /// ENTRY 3067v1 Variant NAME HDC deficiency GENE HDC histidine decarboxylase [KO:K01590] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 142704 NETWORK nt06037 Histidine metabolism DISEASE H00862 Tourette syndrome REFERENCE PMID:20445167 AUTHORS Ercan-Sencicek AG, Stillman AA, Ghosh AK, Bilguvar K, O'Roak BJ, Mason CE, Abbott T, Gupta A, King RA, Pauls DL, Tischfield JA, Heiman GA, Singer HS, Gilbert DL, Hoekstra PJ, Morgan TM, Loring E, Yasuno K, Fernandez T, Sanders S, Louvi A, Cho JH, Mane S, Colangelo CM, Biederer T, Lifton RP, Gunel M, State MW TITLE L-histidine decarboxylase and Tourette's syndrome. JOURNAL N Engl J Med 362:1901-8 (2010) DOI:10.1056/NEJMoa0907006 /// ENTRY 3073v1 Variant NAME HEXA deficiency GENE HEXA hexosaminidase subunit alpha [KO:K12373] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 606869 NETWORK nt06014 Sphingolipid degradation DISEASE H02016 Tay-Sachs disease REFERENCE PMID:9090523 AUTHORS Myerowitz R TITLE Tay-Sachs disease-causing mutations and neutral polymorphisms in the Hex A gene. JOURNAL Hum Mutat 9:195-208 (1997) DOI:10.1002/(SICI)1098-1004(1997)9:3<195::AID-HUMU1>3.0.CO;2-7 /// ENTRY 3074v1 Variant NAME HEXB deficiency GENE HEXB hexosaminidase subunit beta [KO:K12373] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 606873 NETWORK nt06014 Sphingolipid degradation DISEASE H02017 Sandhoff disease REFERENCE PMID:2921040 AUTHORS Bikker H, van den Berg FM, Wolterman RA, de Vijlder JJ, Bolhuis PA TITLE Demonstration of a Sandhoff disease-associated autosomal 50-kb deletion by field inversion gel electrophoresis. JOURNAL Hum Genet 81:287-8 (1989) DOI:10.1007/BF00279006 /// ENTRY 3075v1 Variant NAME CFH mutation GENE CFH complement factor H [KO:K04004] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 134370 NETWORK nt06513 Complement cascade DISEASE H00104 Alternative complement pathway component defects H00821 Age-related macular degeneration H01434 Atypical hemolytic uremic syndrome H02108 Basal laminar drusen H02579 C3 glomerulopathy REFERENCE PMID:9312129 AUTHORS Ault BH, Schmidt BZ, Fowler NL, Kashtan CE, Ahmed AE, Vogt BA, Colten HR TITLE Human factor H deficiency. Mutations in framework cysteine residues and block in H protein secretion and intracellular catabolism. JOURNAL J Biol Chem 272:25168-75 (1997) DOI:10.1074/jbc.272.40.25168 REFERENCE PMID:17018561 AUTHORS Servais A, Fremeaux-Bacchi V, Lequintrec M, Salomon R, Blouin J, Knebelmann B, Grunfeld JP, Lesavre P, Noel LH, Fakhouri F TITLE Primary glomerulonephritis with isolated C3 deposits: a new entity which shares common genetic risk factors with haemolytic uraemic syndrome. JOURNAL J Med Genet 44:193-9 (2007) DOI:10.1136/jmg.2006.045328 REFERENCE PMID:33751148 AUTHORS Armento A, Ueffing M, Clark SJ TITLE The complement system in age-related macular degeneration. JOURNAL Cell Mol Life Sci 78:4487-4505 (2021) DOI:10.1007/s00018-021-03796-9 REFERENCE PMID:31156618 AUTHORS Park DH, Connor KM, Lambris JD TITLE The Challenges and Promise of Complement Therapeutics for Ocular Diseases. JOURNAL Front Immunol 10:1007 (2019) DOI:10.3389/fimmu.2019.01007 /// ENTRY 3077v1 Variant NAME HFE mutation GENE HFE homeostatic iron regulator [KO:K26535] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 613609 NETWORK nt06507 TGFB signaling DISEASE H00211 Hemochromatosis REFERENCE PMID:30420953 AUTHORS Pantopoulos K TITLE Inherited Disorders of Iron Overload. JOURNAL Front Nutr 5:103 (2018) DOI:10.3389/fnut.2018.00103 /// ENTRY 3078v1 Variant NAME CFHR1 mutation GENE CFHR1 complement factor H related 1 [KO:K23815] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 134371 NETWORK nt06513 Complement cascade DISEASE H00821 Age-related macular degeneration H01434 Atypical hemolytic uremic syndrome REFERENCE PMID:31156618 AUTHORS Park DH, Connor KM, Lambris JD TITLE The Challenges and Promise of Complement Therapeutics for Ocular Diseases. JOURNAL Front Immunol 10:1007 (2019) DOI:10.3389/fimmu.2019.01007 REFERENCE PMID:32950988 AUTHORS Avila Bernabeu AI, Cavero Escribano T, Cao Vilarino M TITLE Atypical Hemolytic Uremic Syndrome: New Challenges in the Complement Blockage Era. JOURNAL Nephron 144:537-549 (2020) DOI:10.1159/000508920 /// ENTRY 3081v1 Variant NAME HGD deficiency GENE HGD homogentisate 1,2-dioxygenase [KO:K00451] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 607474 NETWORK nt06016 Phenylalanine and tyrosine metabolism DISEASE H00163 Alkaptonuria REFERENCE PMID:19862842 AUTHORS Vilboux T, Kayser M, Introne W, Suwannarat P, Bernardini I, Fischer R, O'Brien K, Kleta R, Huizing M, Gahl WA TITLE Mutation spectrum of homogentisic acid oxidase (HGD) in alkaptonuria. JOURNAL Hum Mutat 30:1611-9 (2009) DOI:10.1002/humu.21120 /// ENTRY 3082v1 Variant NAME HGF overexpression GENE HGF hepatocyte growth factor [KO:K05460] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION overexpression NETWORK nt06210 ERK signaling nt06214 PI3K signaling nt06263 Hepatocellular carcinoma nt06530 PI3K signaling DISEASE H00048 Hepatocellular carcinoma REFERENCE PMID:16799620 AUTHORS Breuhahn K, Longerich T, Schirmacher P TITLE Dysregulation of growth factor signaling in human hepatocellular carcinoma. JOURNAL Oncogene 25:3787-800 (2006) DOI:10.1038/sj.onc.1209556 REFERENCE PMID:19387255 AUTHORS Minguez B, Tovar V, Chiang D, Villanueva A, Llovet JM TITLE Pathogenesis of hepatocellular carcinoma and molecular therapies. JOURNAL Curr Opin Gastroenterol 25:186-94 (2009) DOI:10.1097/MOG.0b013e32832962a1 REFERENCE PMID:20639898 AUTHORS Whittaker S, Marais R, Zhu AX TITLE The role of signaling pathways in the development and treatment of hepatocellular carcinoma. JOURNAL Oncogene 29:4989-5005 (2010) DOI:10.1038/onc.2010.236 /// ENTRY 3082v2 Variant NAME HGF mutation GENE HGF hepatocyte growth factor [KO:K05460] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 142409 NETWORK nt06528 Calcium signaling DISEASE H00605 Deafness, autosomal recessive REFERENCE PMID:19576567 AUTHORS Schultz JM, Khan SN, Ahmed ZM, Riazuddin S, Waryah AM, Chhatre D, Starost MF, Ploplis B, Buckley S, Velasquez D, Kabra M, Lee K, Hassan MJ, Ali G, Ansar M, Ghosh M, Wilcox ER, Ahmad W, Merlino G, Leal SM, Riazuddin S, Friedman TB, Morell RJ TITLE Noncoding mutations of HGF are associated with nonsyndromic hearing loss, DFNB39. JOURNAL Am J Hum Genet 85:25-39 (2009) DOI:10.1016/j.ajhg.2009.06.003 /// ENTRY 3145v1 Variant NAME HMBS deficiency GENE HMBS hydroxymethylbilane synthase [KO:K01749] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 609806 NETWORK nt06011 Heme biosynthesis DISEASE H01763 Porphyria REFERENCE PMID:2243128 AUTHORS Delfau MH, Picat C, de Rooij FW, Hamer K, Bogard M, Wilson JH, Deybach JC, Nordmann Y, Grandchamp B TITLE Two different point G to A mutations in exon 10 of the porphobilinogen deaminase gene are responsible for acute intermittent porphyria. JOURNAL J Clin Invest 86:1511-6 (1990) DOI:10.1172/JCI114869 /// ENTRY 3155v1 Variant NAME HMGCL deficiency GENE HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase [KO:K01640] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 613898 NETWORK nt06024 Valine, leucine and isoleucine degradation DISEASE H00179 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency REFERENCE PMID:8440722 AUTHORS Mitchell GA, Robert MF, Hruz PW, Wang S, Fontaine G, Behnke CE, Mende-Mueller LM, Schappert K, Lee C, Gibson KM, Miziorko HM, et al. TITLE 3-Hydroxy-3-methylglutaryl coenzyme A lyase (HL). Cloning of human and chicken liver HL cDNAs and characterization of a mutation causing human HL deficiency. JOURNAL J Biol Chem 268:4376-81 (1993) /// ENTRY 3195v1 Variant NAME TLX1 rearrangemnet GENE TLX1 T cell leukemia homeobox 1 [KO:K09340] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION translocation t(10;14)(q24;q11) VARIATION translocation t(7;10)(q35;q24) NETWORK nt06240 Transcription DISEASE H00002 T-cell acute lymphoblastic leukemia REFERENCE PMID:19133982 AUTHORS Riz I, Hawley TS, Johnston H, Hawley RG TITLE Role of TLX1 in T-cell acute lymphoblastic leukaemia pathogenesis. JOURNAL Br J Haematol 145:140-3 (2009) DOI:10.1111/j.1365-2141.2008.07556.x REFERENCE PMID:23904235 AUTHORS Larmonie NS, Dik WA, Meijerink JP, Homminga I, van Dongen JJ, Langerak AW TITLE Breakpoint sites disclose the role of the V(D)J recombination machinery in the formation of T-cell receptor (TCR) and non-TCR associated aberrations in T-cell acute lymphoblastic leukemia. JOURNAL Haematologica 98:1173-84 (2013) DOI:10.3324/haematol.2012.082156 REFERENCE PMID:21705452 AUTHORS De Keersmaecker K, Ferrando AA TITLE TLX1-induced T-cell acute lymphoblastic leukemia. JOURNAL Clin Cancer Res 17:6381-6 (2011) DOI:10.1158/1078-0432.CCR-10-3037 /// ENTRY 3242v1 Variant NAME HPD deficiency GENE HPD 4-hydroxyphenylpyruvate dioxygenase [KO:K00457] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 609695 NETWORK nt06016 Phenylalanine and tyrosine metabolism DISEASE H00165 Tyrosinemia REFERENCE PMID:10942115 AUTHORS Ruetschi U, Cerone R, Perez-Cerda C, Schiaffino MC, Standing S, Ugarte M, Holme E TITLE Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type III. JOURNAL Hum Genet 106:654-62 (2000) DOI:10.1007/s004390050039 /// ENTRY 324v1 Variant NAME APC mutation GENE APC APC regulator of WNT signaling pathway [KO:K02085] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutation Q1338* ClinVar: 801 dbSNP: rs121913327 VARIATION mutation R332* ClinVar: 184937 dbSNP: rs775126020 VARIATION mutation G1120E ClinVar: 802 dbSNP: rs28933379 NETWORK nt06215 WNT signaling nt06260 Colorectal cancer nt06261 Gastric cancer nt06505 WNT signaling DISEASE H00018 Gastric cancer H00020 Colorectal cancer REFERENCE PMID:8187091 AUTHORS Miyaki M, Konishi M, Kikuchi-Yanoshita R, Enomoto M, Igari T, Tanaka K, Muraoka M, Takahashi H, Amada Y, Fukayama M, et al. TITLE Characteristics of somatic mutation of the adenomatous polyposis coli gene in colorectal tumors. JOURNAL Cancer Res 54:3011-20 (1994) REFERENCE PMID:19196998 AUTHORS Kaufmann A, Vogt S, Uhlhaas S, Stienen D, Kurth I, Hameister H, Mangold E, Kotting J, Kaminsky E, Propping P, Friedl W, Aretz S TITLE Analysis of rare APC variants at the mRNA level: six pathogenic mutations and literature review. JOURNAL J Mol Diagn 11:131-9 (2009) DOI:10.2353/jmoldx.2009.080129 REFERENCE PMID:16699851 AUTHORS Takayama T, Miyanishi K, Hayashi T, Sato Y, Niitsu Y. TITLE Colorectal cancer: genetics of development and metastasis. JOURNAL J Gastroenterol 41:185-92 (2006) DOI:10.1007/s00535-006-1801-6 REFERENCE PMID:1651563 AUTHORS Nishisho I, Nakamura Y, Miyoshi Y, Miki Y, Ando H, Horii A, Koyama K, Utsunomiya J, Baba S, Hedge P TITLE Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients. JOURNAL Science 253:665-9 (1991) DOI:10.1126/science.1651563 REFERENCE PMID:1338691 AUTHORS Nakatsuru S, Yanagisawa A, Ichii S, Tahara E, Kato Y, Nakamura Y, Horii A TITLE Somatic mutation of the APC gene in gastric cancer: frequent mutations in very well differentiated adenocarcinoma and signet-ring cell carcinoma. JOURNAL Hum Mol Genet 1:559-63 (1992) DOI:10.1093/hmg/1.8.559 REFERENCE PMID:8118796 AUTHORS Tamura G, Maesawa C, Suzuki Y, Tamada H, Satoh M, Ogasawara S, Kashiwaba M, Satodate R TITLE Mutations of the APC gene occur during early stages of gastric adenoma development. JOURNAL Cancer Res 54:1149-51 (1994) /// ENTRY 3251v1 Variant NAME HPRT1 deficiency GENE HPRT1 hypoxanthine phosphoribosyltransferase 1 [KO:K00760] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 308000 NETWORK nt06027 Purine salvage pathway DISEASE H00194 Lesch-Nyhan syndrome REFERENCE PMID:18067674 AUTHORS Torres RJ, Puig JG TITLE Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome. JOURNAL Orphanet J Rare Dis 2:48 (2007) DOI:10.1186/1750-1172-2-48 REFERENCE PMID:2909537 AUTHORS Davidson BL, Pashmforoush M, Kelley WN, Palella TD TITLE Human hypoxanthine-guanine phosphoribosyltransferase deficiency. The molecular defect in a patient with gout (HPRTAshville). JOURNAL J Biol Chem 264:520-5 (1989) DOI:10.1016/S0021-9258(17)31289-9 /// ENTRY 3265v1 Variant NAME HRAS overexpression GENE HRAS HRas proto-oncogene, GTPase [KO:K02833] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION overexpression NETWORK nt06210 ERK signaling nt06265 Bladder cancer nt06526 MAPK signaling DISEASE H00022 Bladder cancer REFERENCE PMID:14532839 AUTHORS Oxford G, Theodorescu D TITLE The role of Ras superfamily proteins in bladder cancer progression. JOURNAL J Urol 170:1987-93 (2003) DOI:10.1097/01.ju.0000088670.02905.78 /// ENTRY 3265v2 Variant NAME HRAS mutation GENE HRAS HRas proto-oncogene, GTPase [KO:K02833] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutation G12S ClinVar: 12602 dbSNP: rs104894229 COSM: 480 VARIATION mutation G12C ClinVar: 12613 dbSNP: rs104894229 COSM: 481 VARIATION mutation G13R ClinVar: 35554 dbSNP: rs104894228 COSM: 486 VARIATION mutation G13V ClinVar: 180848 dbSNP: rs104894226 COSM: 489 VARIATION mutation Q61R ClinVar: 160364 dbSNP: rs121913233 COSM: 499 VARIATION mutation Q61L ClinVar: 376033 dbSNP: rs121913233 COSM: 498 NETWORK nt06210 ERK signaling nt06265 Bladder cancer nt06526 MAPK signaling DISEASE H00022 Bladder cancer REFERENCE PMID:15897885 AUTHORS Jebar AH, Hurst CD, Tomlinson DC, Johnston C, Taylor CF, Knowles MA TITLE FGFR3 and Ras gene mutations are mutually exclusive genetic events in urothelial cell carcinoma. JOURNAL Oncogene 24:5218-25 (2005) DOI:10.1038/sj.onc.1208705 /// ENTRY 3265v3 Variant NAME HRAS mutation GENE HRAS HRas proto-oncogene, GTPase [KO:K02833] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 190020 NETWORK nt06526 MAPK signaling nt06530 PI3K signaling DISEASE H01747 Costello syndrome H02627 Epidermal nevus REFERENCE PMID:35103797 AUTHORS Rauen KA TITLE Defining RASopathy. JOURNAL Dis Model Mech 15:274193 (2022) DOI:10.1242/dmm.049344 REFERENCE PMID:36394128 AUTHORS Tartaglia M, Aoki Y, Gelb BD TITLE The molecular genetics of RASopathies: An update on novel disease genes and new disorders. JOURNAL Am J Med Genet C Semin Med Genet 190:425-439 (2022) DOI:10.1002/ajmg.c.32012 REFERENCE PMID:29044700 AUTHORS Asch S, Sugarman JL TITLE Epidermal nevus syndromes: New insights into whorls and swirls. JOURNAL Pediatr Dermatol 35:21-29 (2018) DOI:10.1111/pde.13273 /// ENTRY 3284v1 Variant NAME HSD3B2 deficiency GENE HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 [KO:K00070] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 613890 NETWORK nt06019 Steroid hormone biosynthesis DISEASE H00216 Congenital adrenal hyperplasia REFERENCE PMID:1363812 AUTHORS Rheaume E, Simard J, Morel Y, Mebarki F, Zachmann M, Forest MG, New MI, Labrie F TITLE Congenital adrenal hyperplasia due to point mutations in the type II 3 beta-hydroxysteroid dehydrogenase gene. JOURNAL Nat Genet 1:239-45 (1992) DOI:10.1038/ng0792-239 /// ENTRY 3290v1 Variant NAME HSD11B1 mutation GENE HSD11B1 hydroxysteroid 11-beta dehydrogenase 1 [KO:K15680] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 600713 NETWORK nt06019 Steroid hormone biosynthesis DISEASE H01111 Cortisone reductase deficiency REFERENCE PMID:11150889 AUTHORS Biason-Lauber A, Suter SL, Shackleton CH, Zachmann M TITLE Apparent cortisone reductase deficiency: a rare cause of hyperandrogenemia and hypercortisolism. JOURNAL Horm Res 53:260-6 (2000) DOI:10.1159/000023577 REFERENCE PMID:21325058 AUTHORS Lawson AJ, Walker EA, Lavery GG, Bujalska IJ, Hughes B, Arlt W, Stewart PM, Ride JP TITLE Cortisone-reductase deficiency associated with heterozygous mutations in 11beta-hydroxysteroid dehydrogenase type 1. JOURNAL Proc Natl Acad Sci U S A 108:4111-6 (2011) DOI:10.1073/pnas.1014934108 /// ENTRY 3291v1 Variant NAME HSD11B2 deficiency GENE HSD11B2 hydroxysteroid 11-beta dehydrogenase 2 [KO:K00071] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 614232 NETWORK nt06019 Steroid hormone biosynthesis DISEASE H00259 Apparent mineralocorticoid excess syndrome REFERENCE PMID:17314322 AUTHORS Atanasov AG, Ignatova ID, Nashev LG, Dick B, Ferrari P, Frey FJ, Odermatt A TITLE Impaired protein stability of 11beta-hydroxysteroid dehydrogenase type 2: a novel mechanism of apparent mineralocorticoid excess. JOURNAL J Am Soc Nephrol 18:1262-70 (2007) DOI:10.1681/ASN.2006111235 /// ENTRY 3293v1 Variant NAME HSD17B3 deficiency GENE HSD17B3 hydroxysteroid 17-beta dehydrogenase 3 [KO:K10207] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 605573 NETWORK nt06019 Steroid hormone biosynthesis DISEASE H00608 46,XY disorder of sex development due to testosterone secretion defect REFERENCE PMID:8075637 AUTHORS Geissler WM, Davis DL, Wu L, Bradshaw KD, Patel S, Mendonca BB, Elliston KO, Wilson JD, Russell DW, Andersson S TITLE Male pseudohermaphroditism caused by mutations of testicular 17 beta-hydroxysteroid dehydrogenase 3. JOURNAL Nat Genet 7:34-9 (1994) DOI:10.1038/ng0594-34 /// ENTRY 3295v1 Variant NAME HSD17B4 deficiency GENE HSD17B4 hydroxysteroid 17-beta dehydrogenase 4 [KO:K12405] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 601860 NETWORK nt06021 beta-Oxidation in peroxisome DISEASE H02098 D-bifunctional protein deficiency REFERENCE PMID:9482850 AUTHORS van Grunsven EG, van Berkel E, Ijlst L, Vreken P, de Klerk JB, Adamski J, Lemonde H, Clayton PT, Cuebas DA, Wanders RJ TITLE Peroxisomal D-hydroxyacyl-CoA dehydrogenase deficiency: resolution of the enzyme defect and its molecular basis in bifunctional protein deficiency. JOURNAL Proc Natl Acad Sci U S A 95:2128-33 (1998) DOI:10.1073/pnas.95.5.2128 /// ENTRY 331v1 Variant NAME XIAP mutation GENE XIAP X-linked inhibitor of apoptosis [KO:K04725] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 300079 NETWORK nt06516 TNF signaling nt06527 Necroptosis DISEASE H01969 X-linked lymphoproliferative syndrome REFERENCE PMID:36380021 AUTHORS van Loo G, Bertrand MJM TITLE Death by TNF: a road to inflammation. JOURNAL Nat Rev Immunol 1-15 (2022) DOI:10.1038/s41577-022-00792-3 REFERENCE PMID:28723569 AUTHORS Lawlor KE, Feltham R, Yabal M, Conos SA, Chen KW, Ziehe S, Grass C, Zhan Y, Nguyen TA, Hall C, Vince AJ, Chatfield SM, D'Silva DB, Pang KC, Schroder K, Silke J, Vaux DL, Jost PJ, Vince JE TITLE XIAP Loss Triggers RIPK3- and Caspase-8-Driven IL-1beta Activation and Cell Death as a Consequence of TLR-MyD88-Induced cIAP1-TRAF2 Degradation. JOURNAL Cell Rep 20:668-682 (2017) DOI:10.1016/j.celrep.2017.06.073 /// ENTRY 3340v1 Variant NAME NDST1 mutation GENE NDST1 N-deacetylase and N-sulfotransferase 1 [KO:K02576] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 600853 NETWORK nt06029 Glycosaminoglycan biosynthesis DISEASE H00768 Autosomal recessive intellectual developmental disorder REFERENCE PMID:25125150 AUTHORS Reuter MS, Musante L, Hu H, Diederich S, Sticht H, Ekici AB, Uebe S, Wienker TF, Bartsch O, Zechner U, Oppitz C, Keleman K, Jamra RA, Najmabadi H, Schweiger S, Reis A, Kahrizi K TITLE NDST1 missense mutations in autosomal recessive intellectual disability. JOURNAL Am J Med Genet A 164A:2753-63 (2014) DOI:10.1002/ajmg.a.36723 /// ENTRY 3373v1 Variant NAME HYAL1 deficiency GENE HYAL1 hyaluronidase 1 [KO:K01197] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 607071 NETWORK nt06012 Glycosaminoglycan degradation DISEASE H00133 Mucopolysaccharidosis type IX REFERENCE PMID:10339581 AUTHORS Triggs-Raine B, Salo TJ, Zhang H, Wicklow BA, Natowicz MR TITLE Mutations in HYAL1, a member of a tandemly distributed multigene family encoding disparate hyaluronidase activities, cause a newly described lysosomal disorder, mucopolysaccharidosis IX. JOURNAL Proc Natl Acad Sci U S A 96:6296-300 (1999) DOI:10.1073/pnas.96.11.6296 /// ENTRY 338v1 Variant NAME APOB mutation GENE APOB apolipoprotein B [KO:K14462] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 107730 NETWORK nt06320 APOB-LDLR signaling DISEASE H00155 Familial hypercholesterolemia REFERENCE PMID:3477815 AUTHORS Innerarity TL, Weisgraber KH, Arnold KS, Mahley RW, Krauss RM, Vega GL, Grundy SM TITLE Familial defective apolipoprotein B-100: low density lipoproteins with abnormal receptor binding. JOURNAL Proc Natl Acad Sci U S A 84:6919-23 (1987) DOI:10.1073/pnas.84.19.6919 REFERENCE PMID:23776352 AUTHORS De Castro-Oros I, Pocovi M, Civeira F TITLE The genetic basis of familial hypercholesterolemia: inheritance, linkage, and mutations. JOURNAL Appl Clin Genet 3:53-64 (2010) DOI:10.2147/TACG.S8285 REFERENCE PMID:26370207 AUTHORS Ito MK, Watts GF TITLE Challenges in the Diagnosis and Treatment of Homozygous Familial Hypercholesterolemia. JOURNAL Drugs 75:1715-24 (2015) DOI:10.1007/s40265-015-0466-y /// ENTRY 340061v1 Variant NAME STING1 mutation GENE STING1 stimulator of interferon response cGAMP interactor 1 [KO:K12654] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 612374 NETWORK nt06520 CGAS-STING signaling DISEASE H01746 STING-associated vasculopathy with onset in infancy REFERENCE PMID:34635190 AUTHORS Masumoto J, Zhou W, Morikawa S, Hosokawa S, Taguchi H, Yamamoto T, Kurata M, Kaneko N TITLE Molecular biology of autoinflammatory diseases. JOURNAL Inflamm Regen 41:33 (2021) DOI:10.1186/s41232-021-00181-8 /// ENTRY 340419v1 Variant NAME RSPO2 mutation GENE RSPO2 R-spondin 2 [KO:K23097] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 610575 NETWORK nt06505 WNT signaling DISEASE H00636 Tetra-amelia syndrome REFERENCE PMID:19619488 AUTHORS MacDonald BT, Tamai K, He X TITLE Wnt/beta-catenin signaling: components, mechanisms, and diseases. JOURNAL Dev Cell 17:9-26 (2009) DOI:10.1016/j.devcel.2009.06.016 /// ENTRY 3417v1 Variant NAME IDH1 mutation GENE IDH1 isocitrate dehydrogenase (NADP(+)) 1 [KO:K00031] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutation R132P ClinVar: 375890 dbSNP: rs121913500 VARIATION mutation R132L ClinVar: 375889 dbSNP: rs121913500 VARIATION mutation R132H ClinVar: 156444 dbSNP: rs121913500 VARIATION mutation R132S ClinVar: 375893 dbSNP: rs121913499 VARIATION mutation R132G ClinVar: 375892 dbSNP: rs121913499 VARIATION mutation R132C ClinVar: 375891 dbSNP: rs121913499 DRUG_TARGET Ivosidenib: D11090 Olutasidenib: D12483 /// ENTRY 3418v1 Variant NAME IDH2 mutation GENE IDH2 isocitrate dehydrogenase (NADP(+)) 2 [KO:K00031] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutation R140Q ClinVar: 14716 dbSNP: rs121913502 VARIATION mutation R172S ClinVar: 375985 dbSNP: rs1057519736 DRUG_TARGET Enasidenib (DG02837): D11044 REFERENCE PMID:20171147 AUTHORS Ward PS, Patel J, Wise DR, Abdel-Wahab O, Bennett BD, Coller HA, Cross JR, Fantin VR, Hedvat CV, Perl AE, Rabinowitz JD, Carroll M, Su SM, Sharp KA, Levine RL, Thompson CB TITLE The common feature of leukemia-associated IDH1 and IDH2 mutations is a neomorphic enzyme activity converting alpha-ketoglutarate to 2-hydroxyglutarate. JOURNAL Cancer Cell 17:225-34 (2010) DOI:10.1016/j.ccr.2010.01.020 /// ENTRY 3418v2 Variant NAME IDH2 mutation GENE IDH2 isocitrate dehydrogenase (NADP(+)) 2 [KO:K00031] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 147650 NETWORK nt06031 Citrate cycle and pyruvate metabolism DISEASE H01225 D-2-hydroxyglutaric aciduria REFERENCE PMID:20847235 AUTHORS Kranendijk M, Struys EA, van Schaftingen E, Gibson KM, Kanhai WA, van der Knaap MS, Amiel J, Buist NR, Das AM, de Klerk JB, Feigenbaum AS, Grange DK, Hofstede FC, Holme E, Kirk EP, Korman SH, Morava E, Morris A, Smeitink J, Sukhai RN, Vallance H, Jakobs C, Salomons GS TITLE IDH2 mutations in patients with D-2-hydroxyglutaric aciduria. JOURNAL Science 330:336 (2010) DOI:10.1126/science.1192632 /// ENTRY 3423v1 Variant NAME IDS deficiency GENE IDS iduronate 2-sulfatase [KO:K01136] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 300823 NETWORK nt06012 Glycosaminoglycan degradation DISEASE H00129 Mucopolysaccharidosis type II DRUG_TARGET Idursulfase: D04499 Idursulfase beta: D11025 REFERENCE PMID:1639384 AUTHORS Flomen RH, Green PM, Bentley DR, Giannelli F, Green EP TITLE Detection of point mutations and a gross deletion in six Hunter syndrome patients. JOURNAL Genomics 13:543-50 (1992) DOI:10.1016/0888-7543(92)90123-A REFERENCE PMID:1550586 AUTHORS Sukegawa K, Tomatsu S, Tamai K, Ikeda M, Sasaki T, Masue M, Fukuda S, Yamada Y, Orii T TITLE Intermediate form of mucopolysaccharidosis type II (Hunter disease): a C1327 to T substitution in the iduronate sulfatase gene. JOURNAL Biochem Biophys Res Commun 183:809-13 (1992) DOI:10.1016/0006-291X(92)90555-Y /// ENTRY 3425v1 Variant NAME IDUA deficiency GENE IDUA alpha-L-iduronidase [KO:K01217] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 252800 NETWORK nt06012 Glycosaminoglycan degradation DISEASE H00128 Mucopolysaccharidosis type I DRUG_TARGET Laronidase: D04670 REFERENCE PMID:27511503 AUTHORS Atceken N, Ozgul RK, Yucel Yilmaz D, Tokatli A, Coskun T, Sivri HS, Dursun A, Karaca M TITLE Evaluation and identification of IDUA gene mutations in Turkishpatients with mucopolysaccharidosis type I. JOURNAL Turk J Med Sci 46:404-8 (2016) DOI:10.3906/sag-1411-160 REFERENCE PMID:27146977 AUTHORS Uttarilli A, Ranganath P, Matta D, Md Nurul Jain J, Prasad K, Babu AS, Girisha KM, Verma IC, Phadke SR, Mandal K, Puri RD, Aggarwal S, Danda S, Sankar VH, Kapoor S, Bhat M, Gowrishankar K, Hasan AQ, Nair M, Nampoothiri S, Dalal A TITLE Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II. JOURNAL Clin Genet 90:496-508 (2016) DOI:10.1111/cge.12795 /// ENTRY 3426v1 Variant NAME CFI mutation GENE CFI complement factor I [KO:K01333] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 217030 NETWORK nt06513 Complement cascade DISEASE H00106 Complement regulatory protein defects H00821 Age-related macular degeneration H01434 Atypical hemolytic uremic syndrome H02579 C3 glomerulopathy REFERENCE PMID:35734939 AUTHORS Heiderscheit AK, Hauer JJ, Smith RJH TITLE C3 glomerulopathy: Understanding an ultra-rare complement-mediated renal disease. JOURNAL Am J Med Genet C Semin Med Genet 190:344-357 (2022) DOI:10.1002/ajmg.c.31986 REFERENCE PMID:8613545 AUTHORS Vyse TJ, Morley BJ, Bartok I, Theodoridis EL, Davies KA, Webster AD, Walport MJ TITLE The molecular basis of hereditary complement factor I deficiency. JOURNAL J Clin Invest 97:925-33 (1996) DOI:10.1172/JCI118515 REFERENCE PMID:31156618 AUTHORS Park DH, Connor KM, Lambris JD TITLE The Challenges and Promise of Complement Therapeutics for Ocular Diseases. JOURNAL Front Immunol 10:1007 (2019) DOI:10.3389/fimmu.2019.01007 REFERENCE PMID:32950988 AUTHORS Avila Bernabeu AI, Cavero Escribano T, Cao Vilarino M TITLE Atypical Hemolytic Uremic Syndrome: New Challenges in the Complement Blockage Era. JOURNAL Nephron 144:537-549 (2020) DOI:10.1159/000508920 /// ENTRY 343637v1 Variant NAME RSPO4 mutation GENE RSPO4 R-spondin 4 [KO:K23099] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 610573 NETWORK nt06505 WNT signaling DISEASE H01307 Nonsyndromic congenital nail disorder REFERENCE PMID:19619488 AUTHORS MacDonald BT, Tamai K, He X TITLE Wnt/beta-catenin signaling: components, mechanisms, and diseases. JOURNAL Dev Cell 17:9-26 (2009) DOI:10.1016/j.devcel.2009.06.016 /// ENTRY 3455v1 Variant NAME IFNAR2 mutation GENE IFNAR2 interferon alpha and beta receptor subunit 2 [KO:K05131] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 602376 NETWORK nt06518 JAK-STAT signaling DISEASE H02525 Disorders of innate immunity REFERENCE PMID:33193576 AUTHORS Passarelli C, Civino A, Rossi MN, Cifaldi L, Lanari V, Moneta GM, Caiello I, Bracaglia C, Montinaro R, Novelli A, De Benedetti F, Prencipe G TITLE IFNAR2 Deficiency Causing Dysregulation of NK Cell Functions and Presenting With Hemophagocytic Lymphohistiocytosis. JOURNAL Front Genet 11:937 (2020) DOI:10.3389/fgene.2020.00937 /// ENTRY 345611v1 Variant NAME IRGM mutation GENE IRGM immunity related GTPase M [KO:K14139] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 608212 NETWORK nt06521 NLR signaling DISEASE H01227 Inflammatory bowel disease (IBD) REFERENCE PMID:30612879 AUTHORS Mehto S, Jena KK, Nath P, Chauhan S, Kolapalli SP, Das SK, Sahoo PK, Jain A, Taylor GA, Chauhan S TITLE The Crohn's Disease Risk Factor IRGM Limits NLRP3 Inflammasome Activation by Impeding Its Assembly and by Mediating Its Selective Autophagy. JOURNAL Mol Cell 73:429-445.e7 (2019) DOI:10.1016/j.molcel.2018.11.018 REFERENCE PMID:30669622 AUTHORS Kim S, Eun HS, Jo EK TITLE Roles of Autophagy-Related Genes in the Pathogenesis of Inflammatory Bowel Disease. JOURNAL Cells 8:E77 (2019) DOI:10.3390/cells8010077 /// ENTRY 345643v1 Variant NAME MCIDAS mutation GENE MCIDAS multiciliate differentiation and DNA synthesis associated cell cycle protein [KO:K26119] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 614086 NETWORK nt06509 DNA replication DISEASE H00564 Primary ciliary dyskinesia REFERENCE PMID:25048963 AUTHORS Boon M, Wallmeier J, Ma L, Loges NT, Jaspers M, Olbrich H, Dougherty GW, Raidt J, Werner C, Amirav I, Hevroni A, Abitbul R, Avital A, Soferman R, Wessels M, O'Callaghan C, Chung EM, Rutman A, Hirst RA, Moya E, Mitchison HM, Van Daele S, De Boeck K, Jorissen M, Kintner C, Cuppens H, Omran H TITLE MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile cilia. JOURNAL Nat Commun 5:4418 (2014) DOI:10.1038/ncomms5418 /// ENTRY 3459v1 Variant NAME IFNGR1 mutation GENE IFNGR1 interferon gamma receptor 1 [KO:K05132] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 107470 NETWORK nt06518 JAK-STAT signaling DISEASE H00089 IFN-gamma/IL-12 axis REFERENCE PMID:8960475 AUTHORS Jouanguy E, Altare F, Lamhamedi S, Revy P, Emile JF, Newport M, Levin M, Blanche S, Seboun E, Fischer A, Casanova JL TITLE Interferon-gamma-receptor deficiency in an infant with fatal bacille Calmette-Guerin infection. JOURNAL N Engl J Med 335:1956-61 (1996) DOI:10.1056/NEJM199612263352604 /// ENTRY 3460v1 Variant NAME IFNGR2 mutation GENE IFNGR2 interferon gamma receptor 2 [KO:K05133] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 147569 NETWORK nt06518 JAK-STAT signaling DISEASE H00089 IFN-gamma/IL-12 axis REFERENCE PMID:9616207 AUTHORS Dorman SE, Holland SM TITLE Mutation in the signal-transducing chain of the interferon-gamma receptor and susceptibility to mycobacterial infection. JOURNAL J Clin Invest 101:2364-9 (1998) DOI:10.1172/JCI2901 /// ENTRY 347688v1 Variant NAME TUBB8 mutation GENE TUBB8 tubulin beta 8 class VIII [KO:K07375] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 616768 NETWORK nt06515 Regulation of kinetochore-microtubule interactions DISEASE H01897 Oocyte maturation defect REFERENCE PMID:26789871 AUTHORS Feng R, Sang Q, Kuang Y, Sun X, Yan Z, Zhang S, Shi J, Tian G, Luchniak A, Fukuda Y, Li B, Yu M, Chen J, Xu Y, Guo L, Qu R, Wang X, Sun Z, Liu M, Shi H, Wang H, Feng Y, Shao R, Chai R, Li Q, Xing Q, Zhang R, Nogales E, Jin L, He L, Gupta ML Jr, Cowan NJ, Wang L TITLE Mutations in TUBB8 and Human Oocyte Meiotic Arrest. JOURNAL N Engl J Med 374:223-32 (2016) DOI:10.1056/NEJMoa1510791 /// ENTRY 347733v1 Variant NAME TUBB2B mutation GENE TUBB2B tubulin beta 2B class IIb [KO:K07375] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 612850 NETWORK nt06515 Regulation of kinetochore-microtubule interactions DISEASE H01881 Complex cortical dysplasia with other brain malformations REFERENCE PMID:22333901 AUTHORS Guerrini R, Mei D, Cordelli DM, Pucatti D, Franzoni E, Parrini E TITLE Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations. JOURNAL Eur J Hum Genet 20:995-8 (2012) DOI:10.1038/ejhg.2012.21 /// ENTRY 3479v1 Variant NAME IGF1 mutation GENE IGF1 insulin like growth factor 1 [KO:K05459] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 147440 NETWORK nt06324 GHRH-GH-IGF signaling DISEASE H02040 Insulin-like growth factor I deficiency REFERENCE PMID:24389050 AUTHORS Shaheen R, Faqeih E, Ansari S, Abdel-Salam G, Al-Hassnan ZN, Al-Shidi T, Alomar R, Sogaty S, Alkuraya FS TITLE Genomic analysis of primordial dwarfism reveals novel disease genes. JOURNAL Genome Res 24:291-9 (2014) DOI:10.1101/gr.160572.113 REFERENCE PMID:15769976 AUTHORS Walenkamp MJ, Karperien M, Pereira AM, Hilhorst-Hofstee Y, van Doorn J, Chen JW, Mohan S, Denley A, Forbes B, van Duyvenvoorde HA, van Thiel SW, Sluimers CA, Bax JJ, de Laat JA, Breuning MB, Romijn JA, Wit JM TITLE Homozygous and heterozygous expression of a novel insulin-like growth factor-I mutation. JOURNAL J Clin Endocrinol Metab 90:2855-64 (2005) DOI:10.1210/jc.2004-1254 REFERENCE PMID:22654835 AUTHORS Savage MO, Hwa V, David A, Rosenfeld RG, Metherell LA TITLE Genetic Defects in the Growth Hormone-IGF-I Axis Causing Growth Hormone Insensitivity and Impaired Linear Growth. JOURNAL Front Endocrinol (Lausanne) 2:95 (2011) DOI:10.3389/fendo.2011.00095 REFERENCE PMID:20197302 AUTHORS Perrini S, Laviola L, Carreira MC, Cignarelli A, Natalicchio A, Giorgino F TITLE The GH/IGF1 axis and signaling pathways in the muscle and bone: mechanisms underlying age-related skeletal muscle wasting and osteoporosis. JOURNAL J Endocrinol 205:201-10 (2010) DOI:10.1677/JOE-09-0431 /// ENTRY 3480v1 Variant NAME IGF1R overexpression GENE IGF1R insulin like growth factor 1 receptor [KO:K05087] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION overexpression NETWORK nt06210 ERK signaling nt06214 PI3K signaling nt06263 Hepatocellular carcinoma nt06526 MAPK signaling nt06530 PI3K signaling DISEASE H00048 Hepatocellular carcinoma REFERENCE PMID:20639898 AUTHORS Whittaker S, Marais R, Zhu AX TITLE The role of signaling pathways in the development and treatment of hepatocellular carcinoma. JOURNAL Oncogene 29:4989-5005 (2010) DOI:10.1038/onc.2010.236 REFERENCE PMID:15313394 AUTHORS Alexia C, Fallot G, Lasfer M, Schweizer-Groyer G, Groyer A TITLE An evaluation of the role of insulin-like growth factors (IGF) and of type-I IGF receptor signalling in hepatocarcinogenesis and in the resistance of hepatocarcinoma cells against drug-induced apoptosis. JOURNAL Biochem Pharmacol 68:1003-15 (2004) DOI:10.1016/j.bcp.2004.05.029 REFERENCE PMID:19387255 AUTHORS Minguez B, Tovar V, Chiang D, Villanueva A, Llovet JM TITLE Pathogenesis of hepatocellular carcinoma and molecular therapies. JOURNAL Curr Opin Gastroenterol 25:186-94 (2009) DOI:10.1097/MOG.0b013e32832962a1 /// ENTRY 3480v2 Variant NAME IGF1R mutation GENE IGF1R insulin like growth factor 1 receptor [KO:K05087] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 147370 NETWORK nt06324 GHRH-GH-IGF signaling DISEASE H00254 Growth hormone deficiency REFERENCE PMID:22654835 AUTHORS Savage MO, Hwa V, David A, Rosenfeld RG, Metherell LA TITLE Genetic Defects in the Growth Hormone-IGF-I Axis Causing Growth Hormone Insensitivity and Impaired Linear Growth. JOURNAL Front Endocrinol (Lausanne) 2:95 (2011) DOI:10.3389/fendo.2011.00095 REFERENCE PMID:28649085 AUTHORS Solomon-Zemler R, Basel-Vanagaite L, Steier D, Yakar S, Mel E, Phillip M, Bazak L, Bercovich D, Werner H, de Vries L TITLE A novel heterozygous IGF-1 receptor mutation associated with hypoglycemia. JOURNAL Endocr Connect 6:395-403 (2017) DOI:10.1530/EC-17-0038 /// ENTRY 3481v1 Variant NAME IGF2 overexpression GENE IGF2 insulin like growth factor 2 [KO:K13769] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION overexpression NETWORK nt06210 ERK signaling nt06214 PI3K signaling nt06263 Hepatocellular carcinoma nt06526 MAPK signaling nt06530 PI3K signaling DISEASE H00048 Hepatocellular carcinoma REFERENCE PMID:20639898 AUTHORS Whittaker S, Marais R, Zhu AX TITLE The role of signaling pathways in the development and treatment of hepatocellular carcinoma. JOURNAL Oncogene 29:4989-5005 (2010) DOI:10.1038/onc.2010.236 REFERENCE PMID:15313394 AUTHORS Alexia C, Fallot G, Lasfer M, Schweizer-Groyer G, Groyer A TITLE An evaluation of the role of insulin-like growth factors (IGF) and of type-I IGF receptor signalling in hepatocarcinogenesis and in the resistance of hepatocarcinoma cells against drug-induced apoptosis. JOURNAL Biochem Pharmacol 68:1003-15 (2004) DOI:10.1016/j.bcp.2004.05.029 REFERENCE PMID:19387255 AUTHORS Minguez B, Tovar V, Chiang D, Villanueva A, Llovet JM TITLE Pathogenesis of hepatocellular carcinoma and molecular therapies. JOURNAL Curr Opin Gastroenterol 25:186-94 (2009) DOI:10.1097/MOG.0b013e32832962a1 /// ENTRY 34v1 Variant NAME ACADM deficiency GENE ACADM acyl-CoA dehydrogenase medium chain [KO:K00249] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 607008 NETWORK nt06020 beta-Oxidation in mitochondria DISEASE H00488 MCAD deficiency REFERENCE PMID:9158144 AUTHORS Andresen BS, Bross P, Udvari S, Kirk J, Gray G, Kmoch S, Chamoles N, Knudsen I, Winter V, Wilcken B, Yokota I, Hart K, Packman S, Harpey JP, Saudubray JM, Hale DE, Bolund L, Kolvraa S, Gregersen N TITLE The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype? JOURNAL Hum Mol Genet 6:695-707 (1997) DOI:10.1093/hmg/6.5.695 /// ENTRY 3516v1 Variant NAME RBPJ mutation GENE RBPJ recombination signal binding protein for immunoglobulin kappa J region [KO:K06053] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 147183 NETWORK nt06511 NOTCH signaling DISEASE H01413 Adams-Oliver syndrome REFERENCE PMID:35332121 AUTHORS Zhou B, Lin W, Long Y, Yang Y, Zhang H, Wu K, Chu Q TITLE Notch signaling pathway: architecture, disease, and therapeutics. JOURNAL Signal Transduct Target Ther 7:95 (2022) DOI:10.1038/s41392-022-00934-y /// ENTRY 351v1 Variant NAME APP mutation GENE APP amyloid beta precursor protein [KO:K04520] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 104760 NETWORK nt06460 Alzheimer disease nt06466 Pathways of neurodegeneration nt06534 Unfolded protein response DISEASE H00056 Alzheimer disease REFERENCE PMID:27838006 AUTHORS Zhang G, Xie Y, Wang W, Feng X, Jia J TITLE Clinical characterization of an APP mutation (V717I) in five Han Chinese families with early-onset Alzheimer's disease. JOURNAL J Neurol Sci 372:379-386 (2017) DOI:10.1016/j.jns.2016.10.039 REFERENCE PMID:15776278 AUTHORS Finckh U, Kuschel C, Anagnostouli M, Patsouris E, Pantes GV, Gatzonis S, Kapaki E, Davaki P, Lamszus K, Stavrou D, Gal A TITLE Novel mutations and repeated findings of mutations in familial Alzheimer disease. JOURNAL Neurogenetics 6:85-9 (2005) DOI:10.1007/s10048-005-0211-x REFERENCE PMID:1944558 AUTHORS Chartier-Harlin MC, Crawford F, Houlden H, Warren A, Hughes D, Fidani L, Goate A, Rossor M, Roques P, Hardy J, et al. TITLE Early-onset Alzheimer's disease caused by mutations at codon 717 of the beta-amyloid precursor protein gene. JOURNAL Nature 353:844-6 (1991) DOI:10.1038/353844a0 REFERENCE PMID:11311152 AUTHORS Walsh DM, Hartley DM, Condron MM, Selkoe DJ, Teplow DB TITLE In vitro studies of amyloid beta-protein fibril assembly and toxicity provide clues to the aetiology of Flemish variant (Ala692-->Gly) Alzheimer's disease. JOURNAL Biochem J 355:869-77 (2001) DOI:10.1042/bj3550869 /// ENTRY 353v1 Variant NAME APRT deficiency GENE APRT adenine phosphoribosyltransferase [KO:K00759] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 102600 NETWORK nt06027 Purine salvage pathway DISEASE H00195 Adenine phosphoribosyltransferase deficiency REFERENCE PMID:3680503 AUTHORS Hidaka Y, Palella TD, O'Toole TE, Tarle SA, Kelley WN TITLE Human adenine phosphoribosyltransferase. Identification of allelic mutations at the nucleotide level as a cause of complete deficiency of the enzyme. JOURNAL J Clin Invest 80:1409-15 (1987) DOI:10.1172/JCI113219 /// ENTRY 3549v1 Variant NAME IHH mutation GENE IHH Indian hedgehog signaling molecule [KO:K11989] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 600726 NETWORK nt06501 HH signaling DISEASE H00482 Brachydactyly H00675 Acrocapitofemoral dysplasia REFERENCE PMID:31781166 AUTHORS Sasai N, Toriyama M, Kondo T TITLE Hedgehog Signal and Genetic Disorders. JOURNAL Front Genet 10:1103 (2019) DOI:10.3389/fgene.2019.01103 /// ENTRY 355v1 Variant NAME FAS mutation GENE FAS Fas cell surface death receptor [KO:K04390] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 134637 NETWORK nt06524 Apoptosis nt06527 Necroptosis DISEASE H00108 Autoimmune lymphoproliferative syndromes REFERENCE PMID:33356695 AUTHORS Casamayor-Polo L, Lopez-Nevado M, Paz-Artal E, Anel A, Rieux-Laucat F, Allende LM TITLE Immunologic evaluation and genetic defects of apoptosis in patients with autoimmune lymphoproliferative syndrome (ALPS). JOURNAL Crit Rev Clin Lab Sci 58:253-274 (2021) DOI:10.1080/10408363.2020.1855623 /// ENTRY 3560v1 Variant NAME IL2RB mutation GENE IL2RB interleukin 2 receptor subunit beta [KO:K05069] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 146710 NETWORK nt06518 JAK-STAT signaling DISEASE H02525 Disorders of innate immunity REFERENCE PMID:31040184 AUTHORS Fernandez IZ, Baxter RM, Garcia-Perez JE, Vendrame E, Ranganath T, Kong DS, Lundquist K, Nguyen T, Ogolla S, Black J, Galambos C, Gumbart JC, Dawany N, Kelsen JR, de Zoeten EF, Quinones R, Eissa H, Verneris MR, Sullivan KE, Rochford R, Blish CA, Kedl RM, Dutmer CM, Hsieh EWY TITLE A novel human IL2RB mutation results in T and NK cell-driven immune dysregulation. JOURNAL J Exp Med 216:1255-1267 (2019) DOI:10.1084/jem.20182015 /// ENTRY 3561v1 Variant NAME IL2RG mutation GENE IL2RG interleukin 2 receptor subunit gamma [KO:K05070] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 308380 NETWORK nt06518 JAK-STAT signaling DISEASE H00091 T-B+Severe combined immunodeficiency H00093 Combined immunodeficiency REFERENCE PMID:8462096 AUTHORS Noguchi M, Yi H, Rosenblatt HM, Filipovich AH, Adelstein S, Modi WS, McBride OW, Leonard WJ TITLE Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans. JOURNAL Cell 73:147-57 (1993) DOI:10.1016/0092-8674(93)90167-o REFERENCE PMID:7883965 AUTHORS Schmalstieg FC, Leonard WJ, Noguchi M, Berg M, Rudloff HE, Denney RM, Dave SK, Brooks EG, Goldman AS TITLE Missense mutation in exon 7 of the common gamma chain gene causes a moderate form of X-linked combined immunodeficiency. JOURNAL J Clin Invest 95:1169-73 (1995) DOI:10.1172/JCI117765 /// ENTRY 356v1 Variant NAME FASLG mutation GENE FASLG Fas ligand [KO:K04389] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 134638 NETWORK nt06524 Apoptosis nt06527 Necroptosis DISEASE H00108 Autoimmune lymphoproliferative syndromes REFERENCE PMID:33356695 AUTHORS Casamayor-Polo L, Lopez-Nevado M, Paz-Artal E, Anel A, Rieux-Laucat F, Allende LM TITLE Immunologic evaluation and genetic defects of apoptosis in patients with autoimmune lymphoproliferative syndrome (ALPS). JOURNAL Crit Rev Clin Lab Sci 58:253-274 (2021) DOI:10.1080/10408363.2020.1855623 /// ENTRY 3570v1 Variant NAME IL6R mutation GENE IL6R interleukin 6 receptor [KO:K05055] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 147880 NETWORK nt06518 JAK-STAT signaling DISEASE H01968 Hyper-IgE syndrome REFERENCE PMID:34419355 AUTHORS Minegishi Y TITLE Hyper-IgE syndrome, 2021 update. JOURNAL Allergol Int 70:407-414 (2021) DOI:10.1016/j.alit.2021.07.007 /// ENTRY 3572v1 Variant NAME IL6ST mutation GENE IL6ST interleukin 6 cytokine family signal transducer [KO:K05060] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 600694 NETWORK nt06518 JAK-STAT signaling DISEASE H01968 Hyper-IgE syndrome REFERENCE PMID:34419355 AUTHORS Minegishi Y TITLE Hyper-IgE syndrome, 2021 update. JOURNAL Allergol Int 70:407-414 (2021) DOI:10.1016/j.alit.2021.07.007 /// ENTRY 3575v1 Variant NAME IL7R mutation GENE IL7R interleukin 7 receptor [KO:K05072] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 146661 NETWORK nt06518 JAK-STAT signaling DISEASE H00091 T-B+Severe combined immunodeficiency REFERENCE PMID:10899029 AUTHORS Puel A, Leonard WJ TITLE Mutations in the gene for the IL-7 receptor result in T(-)B(+)NK(+) severe combined immunodeficiency disease. JOURNAL Curr Opin Immunol 12:468-73 (2000) DOI:10.1016/s0952-7915(00)00122-9 /// ENTRY 3587v1 Variant NAME IL10RA mutation GENE IL10RA interleukin 10 receptor subunit alpha [KO:K05134] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 146933 NETWORK nt06518 JAK-STAT signaling DISEASE H01227 Inflammatory bowel disease (IBD) REFERENCE PMID:32670290 AUTHORS Wei HX, Wang B, Li B TITLE IL-10 and IL-22 in Mucosal Immunity: Driving Protection and Pathology. JOURNAL Front Immunol 11:1315 (2020) DOI:10.3389/fimmu.2020.01315 REFERENCE PMID:19890111 AUTHORS Glocker EO, Kotlarz D, Boztug K, Gertz EM, Schaffer AA, Noyan F, Perro M, Diestelhorst J, Allroth A, Murugan D, Hatscher N, Pfeifer D, Sykora KW, Sauer M, Kreipe H, Lacher M, Nustede R, Woellner C, Baumann U, Salzer U, Koletzko S, Shah N, Segal AW, Sauerbrey A, Buderus S, Snapper SB, Grimbacher B, Klein C TITLE Inflammatory bowel disease and mutations affecting the interleukin-10 receptor. JOURNAL N Engl J Med 361:2033-45 (2009) DOI:10.1056/NEJMoa0907206 /// ENTRY 3588v1 Variant NAME IL10RB mutation GENE IL10RB interleukin 10 receptor subunit beta [KO:K05135] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 123889 NETWORK nt06518 JAK-STAT signaling DISEASE H01227 Inflammatory bowel disease (IBD) REFERENCE PMID:32670290 AUTHORS Wei HX, Wang B, Li B TITLE IL-10 and IL-22 in Mucosal Immunity: Driving Protection and Pathology. JOURNAL Front Immunol 11:1315 (2020) DOI:10.3389/fimmu.2020.01315 REFERENCE PMID:19890111 AUTHORS Glocker EO, Kotlarz D, Boztug K, Gertz EM, Schaffer AA, Noyan F, Perro M, Diestelhorst J, Allroth A, Murugan D, Hatscher N, Pfeifer D, Sykora KW, Sauer M, Kreipe H, Lacher M, Nustede R, Woellner C, Baumann U, Salzer U, Koletzko S, Shah N, Segal AW, Sauerbrey A, Buderus S, Snapper SB, Grimbacher B, Klein C TITLE Inflammatory bowel disease and mutations affecting the interleukin-10 receptor. JOURNAL N Engl J Med 361:2033-45 (2009) DOI:10.1056/NEJMoa0907206 /// ENTRY 3593v1 Variant NAME IL12B mutation GENE IL12B interleukin 12B [KO:K05425] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 161561 NETWORK nt06518 JAK-STAT signaling DISEASE H00089 IFN-gamma/IL-12 axis REFERENCE PMID:9854038 AUTHORS Altare F, Lammas D, Revy P, Jouanguy E, Doffinger R, Lamhamedi S, Drysdale P, Scheel-Toellner D, Girdlestone J, Darbyshire P, Wadhwa M, Dockrell H, Salmon M, Fischer A, Durandy A, Casanova JL, Kumararatne DS TITLE Inherited interleukin 12 deficiency in a child with bacille Calmette-Guerin and Salmonella enteritidis disseminated infection. JOURNAL J Clin Invest 102:2035-40 (1998) DOI:10.1172/JCI4950 /// ENTRY 3594v1 Variant NAME IL12RB1 mutation GENE IL12RB1 interleukin 12 receptor subunit beta 1 [KO:K05063] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 601604 NETWORK nt06518 JAK-STAT signaling DISEASE H00089 IFN-gamma/IL-12 axis REFERENCE PMID:9603732 AUTHORS Altare F, Durandy A, Lammas D, Emile JF, Lamhamedi S, Le Deist F, Drysdale P, Jouanguy E, Doffinger R, Bernaudin F, Jeppsson O, Gollob JA, Meinl E, Segal AW, Fischer A, Kumararatne D, Casanova JL TITLE Impairment of mycobacterial immunity in human interleukin-12 receptor deficiency. JOURNAL Science 280:1432-5 (1998) DOI:10.1126/science.280.5368.1432 /// ENTRY 35v1 Variant NAME ACADS deficiency GENE ACADS acyl-CoA dehydrogenase short chain [KO:K00248] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 606885 NETWORK nt06020 beta-Oxidation in mitochondria DISEASE H01980 SCAD deficiency REFERENCE PMID:2808706 AUTHORS Naito E, Indo Y, Tanaka K TITLE Short chain acyl-coenzyme A dehydrogenase (SCAD) deficiency. Immunochemical demonstration of molecular heterogeneity due to variant SCAD with differing stability. JOURNAL J Clin Invest 84:1671-4 (1989) DOI:10.1172/JCI114346 /// ENTRY 3661v1 Variant NAME IRF3 mutation GENE IRF3 interferon regulatory factor 3 [KO:K05411] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 603734 NETWORK nt06517 TLR signaling DISEASE H02536 Infection-induced acute encephalopathy REFERENCE PMID:26216125 AUTHORS Andersen LL, Mork N, Reinert LS, Kofod-Olsen E, Narita R, Jorgensen SE, Skipper KA, Honing K, Gad HH, Ostergaard L, Orntoft TF, Hornung V, Paludan SR, Mikkelsen JG, Fujita T, Christiansen M, Hartmann R, Mogensen TH TITLE Functional IRF3 deficiency in a patient with herpes simplex encephalitis. JOURNAL J Exp Med 212:1371-9 (2015) DOI:10.1084/jem.20142274 /// ENTRY 3663v1 Variant NAME IRF5 mutation GENE IRF5 interferon regulatory factor 5 [KO:K09446] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 607218 NETWORK nt06517 TLR signaling DISEASE H00080 Systemic lupus erythematosus REFERENCE PMID:16642019 AUTHORS Graham RR, Kozyrev SV, Baechler EC, Reddy MV, Plenge RM, Bauer JW, Ortmann WA, Koeuth T, Gonzalez Escribano MF, Pons-Estel B, Petri M, Daly M, Gregersen PK, Martin J, Altshuler D, Behrens TW, Alarcon-Riquelme ME TITLE A common haplotype of interferon regulatory factor 5 (IRF5) regulates splicing and expression and is associated with increased risk of systemic lupus erythematosus. JOURNAL Nat Genet 38:550-5 (2006) DOI:10.1038/ng1782 REFERENCE PMID:29860420 AUTHORS Ban T, Sato GR, Tamura T TITLE Regulation and role of the transcription factor IRF5 in innate immune responses and systemic lupus erythematosus. JOURNAL Int Immunol 30:529-536 (2018) DOI:10.1093/intimm/dxy032 /// ENTRY 3665v1 Variant NAME IRF7 mutation GENE IRF7 interferon regulatory factor 7 [KO:K09447] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 616345 NETWORK nt06517 TLR signaling DISEASE H00096 Defects of toll-like receptor signaling REFERENCE PMID:15800576 AUTHORS Honda K, Yanai H, Negishi H, Asagiri M, Sato M, Mizutani T, Shimada N, Ohba Y, Takaoka A, Yoshida N, Taniguchi T TITLE IRF-7 is the master regulator of type-I interferon-dependent immune responses. JOURNAL Nature 434:772-7 (2005) DOI:10.1038/nature03464 /// ENTRY 367v1 Variant NAME AR amplification GENE AR androgen receptor [KO:K08557] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION amplification NETWORK nt06227 Nuclear receptor signaling nt06272 Prostate cancer DISEASE H00024 Prostate cancer REFERENCE PMID:27741508 AUTHORS Hoang DT, Iczkowski KA, Kilari D, See W, Nevalainen MT TITLE Androgen receptor-dependent and -independent mechanisms driving prostate cancer progression: Opportunities for therapeutic targeting from multiple angles. JOURNAL Oncotarget 8:3724-3745 (2017) DOI:10.18632/oncotarget.12554 REFERENCE PMID:24931201 AUTHORS Chan SC, Dehm SM TITLE Constitutive activity of the androgen receptor. JOURNAL Adv Pharmacol 70:327-66 (2014) DOI:10.1016/B978-0-12-417197-8.00011-0 /// ENTRY 367v2 Variant NAME AR mutation GENE AR androgen receptor [KO:K08557] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutation L702H ClinVar: 219296 dbSNP: rs864622007 COSM: 238553 VARIATION mutation H875Y ClinVar: 9834 dbSNP: rs13785281 COSM: 238555 VARIATION mutation T878A ClinVar: 9381 dbSNP: rs137852578 COSM: 236693 VARIATION mutation P893S COSM: 5563016 VARIATION mutation Q903H COSM: 5564006 NETWORK nt06227 Nuclear receptor signaling nt06272 Prostate cancer DISEASE H00024 Prostate cancer REFERENCE PMID:22981675 AUTHORS Beltran H, Yelensky R, Frampton GM, Park K, Downing SR, MacDonald TY, Jarosz M, Lipson D, Tagawa ST, Nanus DM, Stephens PJ, Mosquera JM, Cronin MT, Rubin MA TITLE Targeted next-generation sequencing of advanced prostate cancer identifies potential therapeutic targets and disease heterogeneity. JOURNAL Eur Urol 63:920-6 (2013) DOI:10.1016/j.eururo.2012.08.053 REFERENCE PMID:26000489 AUTHORS Robinson D, Van Allen EM, Wu YM, Schultz N, Lonigro RJ, Mosquera JM, Montgomery B, Taplin ME, Pritchard CC, Attard G, Beltran H, Abida W, Bradley RK, Vinson J, Cao X, Vats P, Kunju LP, Hussain M, Feng FY, Tomlins SA, Cooney KA, Smith DC, Brennan C, Siddiqui J, Mehra R, Chen Y, Rathkopf DE, Morris MJ, Solomon SB, Durack JC, Reuter VE, Gopalan A, Gao J, Loda M, Lis RT, Bowden M, Balk SP, Gaviola G, Sougnez C, Gupta M, Yu EY, Mostaghel EA, Cheng HH, Mulcahy H, True LD, Plymate SR, Dvinge H, Ferraldeschi R, Flohr P, Miranda S, Zafeiriou Z, Tunariu N, Mateo J, Perez-Lopez R, Demichelis F, Robinson BD, Schiffman M, Nanus DM, Tagawa ST, Sigaras A, Eng KW, Elemento O, Sboner A, Heath EI, Scher HI, Pienta KJ, Kantoff P, de Bono JS, Rubin MA, Nelson PS, Garraway LA, Sawyers CL, Chinnaiyan AM TITLE Integrative clinical genomics of advanced prostate cancer. JOURNAL Cell 161:1215-28 (2015) DOI:10.1016/j.cell.2015.05.001 /// ENTRY 36v1 Variant NAME ACADSB deficiency GENE ACADSB acyl-CoA dehydrogenase short/branched chain [KO:K09478] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 600301 NETWORK nt06024 Valine, leucine and isoleucine degradation DISEASE H00375 SBCAD deficiency REFERENCE PMID:11013134 AUTHORS Andresen BS, Christensen E, Corydon TJ, Bross P, Pilgaard B, Wanders RJ, Ruiter JP, Simonsen H, Winter V, Knudsen I, Schroeder LD, Gregersen N, Skovby F TITLE Isolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl-CoA dehydrogenase deficiency: identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenases in isoleucine and valine metabolism. JOURNAL Am J Hum Genet 67:1095-103 (2000) DOI:10.1086/303105 /// ENTRY 3703v1 Variant NAME STT3A deficiency GENE STT3A STT3 oligosaccharyltransferase complex catalytic subunit A [KO:K07151] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 601134 NETWORK nt06015 N-Glycan biosynthesis DISEASE H00118 Congenital disorders of glycosylation type I REFERENCE PMID:23842455 AUTHORS Shrimal S, Ng BG, Losfeld ME, Gilmore R, Freeze HH TITLE Mutations in STT3A and STT3B cause two congenital disorders of glycosylation. JOURNAL Hum Mol Genet 22:4638-45 (2013) DOI:10.1093/hmg/ddt312 /// ENTRY 3708v1 Variant NAME ITPR1 activating mutation GENE ITPR1 inositol 1,4,5-trisphosphate receptor type 1 [KO:K04958] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutation V1547M ClinVar: 39571 dbSNP: rs397514535 VARIATION mutation N587D ClinVar: 39572 dbSNP: rs397514536 NETWORK nt06462 Spinocerebellar ataxia nt06466 Pathways of neurodegeneration nt06528 Calcium signaling DISEASE H00063 Spinocerebellar ataxia (SCA) REFERENCE PMID:28488678 AUTHORS Klar J, Ali Z, Farooq M, Khan K, Wikstrom J, Iqbal M, Zulfiqar S, Faryal S, Baig SM, Dahl N TITLE A missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers. JOURNAL Eur J Hum Genet 25:848-853 (2017) DOI:10.1038/ejhg.2017.54 REFERENCE PMID:28659154 AUTHORS Zambonin JL, Bellomo A, Ben-Pazi H, Everman DB, Frazer LM, Geraghty MT, Harper AD, Jones JR, Kamien B, Kernohan K, Koenig MK, Lines M, Palmer EE, Richardson R, Segel R, Tarnopolsky M, Vanstone JR, Gibbons M, Collins A, Fogel BL, Dudding-Byth T, Boycott KM TITLE Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia. JOURNAL Orphanet J Rare Dis 12:121 (2017) DOI:10.1186/s13023-017-0672-7 REFERENCE PMID:26827887 AUTHORS Tada M, Nishizawa M, Onodera O TITLE Roles of inositol 1,4,5-trisphosphate receptors in spinocerebellar ataxias. JOURNAL Neurochem Int 94:1-8 (2016) DOI:10.1016/j.neuint.2016.01.007 REFERENCE PMID:22986007 AUTHORS Huang L, Chardon JW, Carter MT, Friend KL, Dudding TE, Schwartzentruber J, Zou R, Schofield PW, Douglas S, Bulman DE, Boycott KM TITLE Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia. JOURNAL Orphanet J Rare Dis 7:67 (2012) DOI:10.1186/1750-1172-7-67 /// ENTRY 3708v2 Variant NAME ITPR1 reduced expression GENE ITPR1 inositol 1,4,5-trisphosphate receptor type 1 [KO:K04958] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutation P1068L ClinVar: 14801 dbSNP: rs121912425 NETWORK nt06462 Spinocerebellar ataxia nt06466 Pathways of neurodegeneration nt06528 Calcium signaling DISEASE H00063 Spinocerebellar ataxia (SCA) REFERENCE PMID:18579805 AUTHORS Hara K, Shiga A, Nozaki H, Mitsui J, Takahashi Y, Ishiguro H, Yomono H, Kurisaki H, Goto J, Ikeuchi T, Tsuji S, Nishizawa M, Onodera O TITLE Total deletion and a missense mutation of ITPR1 in Japanese SCA15 families. JOURNAL Neurology 71:547-51 (2008) DOI:10.1212/01.wnl.0000311277.71046.a0 /// ENTRY 3709v1 Variant NAME ITPR2 mutation GENE ITPR2 inositol 1,4,5-trisphosphate receptor type 2 [KO:K04959] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 600144 NETWORK nt06528 Calcium signaling DISEASE H02281 Isolated anhidrosis with normal sweat glands REFERENCE PMID:25329695 AUTHORS Klar J, Hisatsune C, Baig SM, Tariq M, Johansson AC, Rasool M, Malik NA, Ameur A, Sugiura K, Feuk L, Mikoshiba K, Dahl N TITLE Abolished InsP3R2 function inhibits sweat secretion in both humans and mice. JOURNAL J Clin Invest 124:4773-80 (2014) DOI:10.1172/JCI70720 /// ENTRY 3712v1 Variant NAME IVD deficiency GENE IVD isovaleryl-CoA dehydrogenase [KO:K00253] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 607036 NETWORK nt06024 Valine, leucine and isoleucine degradation DISEASE H00173 Isovaleric acidemia REFERENCE PMID:2063866 AUTHORS Vockley J, Parimoo B, Tanaka K TITLE Molecular characterization of four different classes of mutations in the isovaleryl-CoA dehydrogenase gene responsible for isovaleric acidemia. JOURNAL Am J Hum Genet 49:147-57 (1991) /// ENTRY 3716v1 Variant NAME JAK1 mutation GENE JAK1 Janus kinase 1 [KO:K11217] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 147795 NETWORK nt06518 JAK-STAT signaling DISEASE H02537 Autoinflammation, immune dysregulation, and eosinophilia REFERENCE PMID:34625141 AUTHORS Luo Y, Alexander M, Gadina M, O'Shea JJ, Meylan F, Schwartz DM TITLE JAK-STAT signaling in human disease: From genetic syndromes to clinical inhibition. JOURNAL J Allergy Clin Immunol 148:911-925 (2021) DOI:10.1016/j.jaci.2021.08.004 REFERENCE PMID:28111307 AUTHORS Del Bel KL, Ragotte RJ, Saferali A, Lee S, Vercauteren SM, Mostafavi SA, Schreiber RA, Prendiville JS, Phang MS, Halparin J, Au N, Dean JM, Priatel JJ, Jewels E, Junker AK, Rogers PC, Seear M, McKinnon ML, Turvey SE TITLE JAK1 gain-of-function causes an autosomal dominant immune dysregulatory and hypereosinophilic syndrome. JOURNAL J Allergy Clin Immunol 139:2016-2020.e5 (2017) DOI:10.1016/j.jaci.2016.12.957 /// ENTRY 3717v1 Variant NAME JAK2 mutation GENE JAK2 Janus kinase 2 [KO:K04447] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 147796 NETWORK nt06518 JAK-STAT signaling DISEASE H00236 Congenital polycythemia H01605 Myelofibrosis H01612 Essential thrombocythemia DRUG_TARGET Momelotinib (DG01366): D10889 REFERENCE PMID:34625141 AUTHORS Luo Y, Alexander M, Gadina M, O'Shea JJ, Meylan F, Schwartz DM TITLE JAK-STAT signaling in human disease: From genetic syndromes to clinical inhibition. JOURNAL J Allergy Clin Immunol 148:911-925 (2021) DOI:10.1016/j.jaci.2021.08.004 /// ENTRY 3718v1 Variant NAME JAK3 mutation GENE JAK3 Janus kinase 3 [KO:K11218] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 600173 NETWORK nt06518 JAK-STAT signaling DISEASE H00091 T-B+Severe combined immunodeficiency REFERENCE PMID:34625141 AUTHORS Luo Y, Alexander M, Gadina M, O'Shea JJ, Meylan F, Schwartz DM TITLE JAK-STAT signaling in human disease: From genetic syndromes to clinical inhibition. JOURNAL J Allergy Clin Immunol 148:911-925 (2021) DOI:10.1016/j.jaci.2021.08.004 /// ENTRY 3720v1 Variant NAME JARID2 mutation GENE JARID2 jumonji and AT-rich interaction domain containing 2 [KO:K11478] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 601594 NETWORK nt06523 Epigenetic regulation by Polycomb complexes DISEASE H02618 Developmental delay with variable intellectual disability and dysmorphic facies REFERENCE PMID:35887345 AUTHORS Verberne EA, van der Laan L, Haghshenas S, Rooney K, Levy MA, Alders M, Maas SM, Jansen S, Lieden A, Anderlid BM, Rafael-Croes L, Campeau PM, Chaudhry A, Koolen DA, Pfundt R, Hurst ACE, Tran-Mau-Them F, Bruel AL, Lambert L, Isidor B, Mannens MMAM, Sadikovic B, Henneman P, van Haelst MM TITLE DNA Methylation Signature for JARID2-Neurodevelopmental Syndrome. JOURNAL Int J Mol Sci 23:ijms23148001 (2022) DOI:10.3390/ijms23148001 /// ENTRY 374291v1 Variant NAME NDUFS7 mutation GENE NDUFS7 NADH:ubiquinone oxidoreductase core subunit S7 [KO:K03940] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 601825 NETWORK nt06529 Thermogenesis DISEASE H00473 Mitochondrial complex I deficiency REFERENCE PMID:17604671 AUTHORS Lebon S, Minai L, Chretien D, Corcos J, Serre V, Kadhom N, Steffann J, Pauchard JY, Munnich A, Bonnefont JP, Rotig A TITLE A novel mutation of the NDUFS7 gene leads to activation of a cryptic exon and impaired assembly of mitochondrial complex I in a patient with Leigh syndrome. JOURNAL Mol Genet Metab 92:104-8 (2007) DOI:10.1016/j.ymgme.2007.05.010 /// ENTRY 374654v1 Variant NAME KIF7 mutation GENE KIF7 kinesin family member 7 [KO:K18806] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 611254 NETWORK nt06501 HH signaling DISEASE H00263 Acrocallosal syndrome H00530 Joubert syndrome and related disorders H01265 Hydrolethalus syndrome REFERENCE PMID:31781166 AUTHORS Sasai N, Toriyama M, Kondo T TITLE Hedgehog Signal and Genetic Disorders. JOURNAL Front Genet 10:1103 (2019) DOI:10.3389/fgene.2019.01103 /// ENTRY 3748v1 Variant NAME KCNC3 mutation GENE KCNC3 potassium voltage-gated channel subfamily C member 3 [KO:K04889] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 176264 NETWORK nt06462 Spinocerebellar ataxia DISEASE H00063 Spinocerebellar ataxia (SCA) REFERENCE PMID:25152487 AUTHORS Gallego-Iradi C, Bickford JS, Khare S, Hall A, Nick JA, Salmasinia D, Wawrowsky K, Bannykh S, Huynh DP, Rincon-Limas DE, Pulst SM, Nick HS, Fernandez-Funez P, Waters MF TITLE KCNC3(R420H), a K(+) channel mutation causative in spinocerebellar ataxia 13 displays aberrant intracellular trafficking. JOURNAL Neurobiol Dis 71:270-9 (2014) DOI:10.1016/j.nbd.2014.08.020 REFERENCE PMID:23912307 AUTHORS Subramony SH, Advincula J, Perlman S, Rosales RL, Lee LV, Ashizawa T, Waters MF TITLE Comprehensive phenotype of the p.Arg420his allelic form of spinocerebellar ataxia type 13. JOURNAL Cerebellum 12:932-6 (2013) DOI:10.1007/s12311-013-0507-6 REFERENCE PMID:16501573 AUTHORS Waters MF, Minassian NA, Stevanin G, Figueroa KP, Bannister JP, Nolte D, Mock AF, Evidente VG, Fee DB, Muller U, Durr A, Brice A, Papazian DM, Pulst SM TITLE Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes. JOURNAL Nat Genet 38:447-51 (2006) DOI:10.1038/ng1758 REFERENCE PMID:25981959 AUTHORS Parolin Schnekenberg R, Perkins EM, Miller JW, Davies WI, D'Adamo MC, Pessia M, Fawcett KA, Sims D, Gillard E, Hudspith K, Skehel P, Williams J, O'Regan M, Jayawant S, Jefferson R, Hughes S, Lustenberger A, Ragoussis J, Jackson M, Tucker SJ, Nemeth AH TITLE De novo point mutations in patients diagnosed with ataxic cerebral palsy. JOURNAL Brain 138:1817-32 (2015) DOI:10.1093/brain/awv117 /// ENTRY 374v1 Variant NAME AREG overexpression GENE AREG amphiregulin [KO:K09782] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION overexpression NETWORK nt06210 ERK signaling nt06214 PI3K signaling nt06260 Colorectal cancer nt06526 MAPK signaling nt06530 PI3K signaling DISEASE H00020 Colorectal cancer REFERENCE PMID:21139621 AUTHORS Di Fiore F, Sesboue R, Michel P, Sabourin JC, Frebourg T TITLE Molecular determinants of anti-EGFR sensitivity and resistance in metastatic colorectal cancer. JOURNAL Br J Cancer 103:1765-72 (2010) DOI:10.1038/sj.bjc.6606008 REFERENCE PMID:27344184 AUTHORS Jing C, Jin YH, You Z, Qiong Q, Jun Z TITLE Prognostic value of amphiregulin and epiregulin mRNA expression in metastatic colorectal cancer patients. JOURNAL Oncotarget 7:55890-55899 (2016) DOI:10.18632/oncotarget.10151 REFERENCE PMID:20631481 AUTHORS Li XD, Miao SY, Wang GL, Yang L, Shu YQ, Yin YM TITLE Amphiregulin and epiregulin expression in colorectal carcinoma and the correlation with clinicopathological characteristics. JOURNAL Onkologie 33:353-8 (2010) DOI:10.1159/000315380 /// ENTRY 3752v1 Variant NAME KCND3 mutation GENE KCND3 potassium voltage-gated channel subfamily D member 3 [KO:K04893] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 605411 NETWORK nt06462 Spinocerebellar ataxia DISEASE H00063 Spinocerebellar ataxia (SCA) REFERENCE PMID:23280837 AUTHORS Lee YC, Durr A, Majczenko K, Huang YH, Liu YC, Lien CC, Tsai PC, Ichikawa Y, Goto J, Monin ML, Li JZ, Chung MY, Mundwiller E, Shakkottai V, Liu TT, Tesson C, Lu YC, Brice A, Tsuji S, Burmeister M, Stevanin G, Soong BW TITLE Mutations in KCND3 cause spinocerebellar ataxia type 22. JOURNAL Ann Neurol 72:859-69 (2012) DOI:10.1002/ana.23701 /// ENTRY 3762v1 Variant NAME KCNJ5 mutation GENE KCNJ5 potassium inwardly rectifying channel subfamily J member 5 [KO:K04999] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 600734 NETWORK nt06316 Renin-angiotensin-aldosterone signaling DISEASE H01603 Primary aldosteronism REFERENCE PMID:27485459 AUTHORS Dutta RK, Soderkvist P, Gimm O TITLE Genetics of primary hyperaldosteronism. JOURNAL Endocr Relat Cancer 23:R437-54 (2016) DOI:10.1530/ERC-16-0055 REFERENCE PMID:22802222 AUTHORS Zennaro MC, Jeunemaitre X, Boulkroun S TITLE Integrating genetics and genomics in primary aldosteronism. JOURNAL Hypertension 60:580-8 (2012) DOI:10.1161/HYPERTENSIONAHA.111.188250 REFERENCE PMID:24817817 AUTHORS Al-Salameh A, Cohen R, Desailloud R TITLE Overview of the genetic determinants of primary aldosteronism. JOURNAL Appl Clin Genet 7:67-79 (2014) DOI:10.2147/TACG.S45620 /// ENTRY 378884v1 Variant NAME NHLRC1 mutation GENE NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1 [KO:K10602] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 608072 NETWORK nt06532 Autophagy DISEASE H00810 Progressive myoclonic epilepsy REFERENCE PMID:30143794 AUTHORS Nitschke F, Ahonen SJ, Nitschke S, Mitra S, Minassian BA TITLE Lafora disease - from pathogenesis to treatment strategies. JOURNAL Nat Rev Neurol 14:606-617 (2018) DOI:10.1038/s41582-018-0057-0 REFERENCE PMID:32087199 AUTHORS Zatyka M, Sarkar S, Barrett T TITLE Autophagy in Rare (NonLysosomal) Neurodegenerative Diseases. JOURNAL J Mol Biol 432:2735-2753 (2020) DOI:10.1016/j.jmb.2020.02.012 /// ENTRY 3796v1 Variant NAME KIF2A mutation GENE KIF2A kinesin family member 2A [KO:K10393] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 602591 NETWORK nt06515 Regulation of kinetochore-microtubule interactions DISEASE H01881 Complex cortical dysplasia with other brain malformations REFERENCE PMID:23603762 AUTHORS Poirier K, Lebrun N, Broix L, Tian G, Saillour Y, Boscheron C, Parrini E, Valence S, Pierre BS, Oger M, Lacombe D, Genevieve D, Fontana E, Darra F, Cances C, Barth M, Bonneau D, Bernadina BD, N'guyen S, Gitiaux C, Parent P, des Portes V, Pedespan JM, Legrez V, Castelnau-Ptakine L, Nitschke P, Hieu T, Masson C, Zelenika D, Andrieux A, Francis F, Guerrini R, Cowan NJ, Bahi-Buisson N, Chelly J TITLE Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. JOURNAL Nat Genet 45:639-47 (2013) DOI:10.1038/ng.2613 /// ENTRY 37v1 Variant NAME ACADVL deficiency GENE ACADVL acyl-CoA dehydrogenase very long chain [KO:K09479] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 609575 NETWORK nt06020 beta-Oxidation in mitochondria DISEASE H00392 VLCAD deficiency REFERENCE PMID:9973285 AUTHORS Andresen BS, Olpin S, Poorthuis BJ, Scholte HR, Vianey-Saban C, Wanders R, Ijlst L, Morris A, Pourfarzam M, Bartlett K, Baumgartner ER, deKlerk JB, Schroeder LD, Corydon TJ, Lund H, Winter V, Bross P, Bolund L, Gregersen N TITLE Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency. JOURNAL Am J Hum Genet 64:479-94 (1999) DOI:10.1086/302261 /// ENTRY 3814v1 Variant NAME KISS1 mutation GENE KISS1 KiSS-1 metastasis suppressor [KO:K23140] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 603286 NETWORK nt06323 KISS1-GnRH-LH/FSH-E2 signaling nt06361 Hypogonadotropic hypogonadism DISEASE H00255 Hypogonadotropic hypogonadism REFERENCE PMID:22335740 AUTHORS Topaloglu AK, Tello JA, Kotan LD, Ozbek MN, Yilmaz MB, Erdogan S, Gurbuz F, Temiz F, Millar RP, Yuksel B TITLE Inactivating KISS1 mutation and hypogonadotropic hypogonadism. JOURNAL N Engl J Med 366:629-35 (2012) DOI:10.1056/NEJMoa1111184 REFERENCE PMID:30205368 AUTHORS Trevisan CM, Montagna E, de Oliveira R, Christofolini DM, Barbosa CP, Crandall KA, Bianco B TITLE Kisspeptin/GPR54 System: What Do We Know About Its Role in Human Reproduction? JOURNAL Cell Physiol Biochem 49:1259-1276 (2018) DOI:10.1159/000493406 /// ENTRY 3815v1 Variant NAME KIT kinase domain mutation GENE KIT KIT proto-oncogene, receptor tyrosine kinase [KO:K05091] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutation D816Y ClinVar: 13860 dbSNP: rs121913506 COSM: 1310 VARIATION mutation D816H ClinVar: 13863 dbSNP: rs121913506 COSM: 1311 VARIATION mutation D816V ClinVar: 13852 dbSNP: rs121913507 COSM: 1314 NETWORK nt06210 ERK signaling nt06214 PI3K signaling nt06275 Acute myeloid leukemia nt06526 MAPK signaling nt06530 PI3K signaling DISEASE H00003 Acute myeloid leukemia DRUG_TARGET Avapritinib: D11279 Bezuclastinib: D12600 Tuspetinib: D12476 REFERENCE PMID:16254134 AUTHORS Schnittger S, Kohl TM, Haferlach T, Kern W, Hiddemann W, Spiekermann K, Schoch C TITLE KIT-D816 mutations in AML1-ETO-positive AML are associated with impaired event-free and overall survival. JOURNAL Blood 107:1791-9 (2006) DOI:10.1182/blood-2005-04-1466 /// ENTRY 3818v1 Variant NAME KLKB1 mutation GENE KLKB1 kallikrein B1 [KO:K01324] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 229000 NETWORK nt06514 Coagulation cascade DISEASE H01078 Fletcher factor deficiency REFERENCE PMID:21091145 AUTHORS Girolami A, Scarparo P, Candeo N, Lombardi AM TITLE Congenital prekallikrein deficiency. JOURNAL Expert Rev Hematol 3:685-95 (2010) DOI:10.1586/ehm.10.69 /// ENTRY 3827v1 Variant NAME KNG1 mutation GENE KNG1 kininogen 1 [KO:K03898] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 612358 NETWORK nt06514 Coagulation cascade DISEASE H01006 Hereditary angioedema REFERENCE PMID:30656274 AUTHORS Levi M, Cohn DM, Zeerleder S TITLE Hereditary angioedema: Linking complement regulation to the coagulation system. JOURNAL Res Pract Thromb Haemost 3:38-43 (2019) DOI:10.1002/rth2.12175 /// ENTRY 383v1 Variant NAME ARG1 deficiency GENE ARG1 arginase 1 [KO:K01476] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 608313 NETWORK nt06010 Urea cycle DISEASE H00186 Hyperargininemia DRUG_TARGET Pegzilarginase: D11695 REFERENCE PMID:1463019 AUTHORS Uchino T, Haraguchi Y, Aparicio JM, Mizutani N, Higashikawa M, Naitoh H, Mori M, Matsuda I TITLE Three novel mutations in the liver-type arginase gene in three unrelated Japanese patients with argininemia. JOURNAL Am J Hum Genet 51:1406-12 (1992) /// ENTRY 3845v1 Variant NAME KRAS mutation GENE KRAS KRAS proto-oncogene, GTPase [KO:K07827] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutation G12D ClinVar: 12582 dbSNP: rs121913529 COSM: 521 VARIATION mutation G12V ClinVar: 12583 dbSNP: rs121913529 COSM: 520 VARIATION mutation G13D ClinVar: 12580 dbSNP: rs112445441 COSM: 532 VARIATION mutation G12C ClinVar: 12578 dbSNP: rs121913530 COSM: 516 NETWORK nt06210 ERK signaling nt06213 Other RAS signaling nt06214 PI3K signaling nt06260 Colorectal cancer nt06261 Gastric cancer nt06262 Pancreatic cancer nt06266 Non-small cell lung cancer nt06268 Melanoma nt06271 Endometrial cancer nt06274 Thyroid cancer nt06275 Acute myeloid leukemia nt06526 MAPK signaling nt06530 PI3K signaling DISEASE H00003 Acute myeloid leukemia H00014 Non-small cell lung cancer H00018 Gastric cancer H00019 Pancreatic cancer H00020 Colorectal cancer H00026 Endometrial cancer H00032 Thyroid cancer H00038 Melanoma DRUG_TARGET Adagrasib: D12301 Sotorasib: D12055 REFERENCE PMID:22589270 AUTHORS Prior IA, Lewis PD, Mattos C TITLE A comprehensive survey of Ras mutations in cancer. JOURNAL Cancer Res 72:2457-67 (2012) DOI:10.1158/0008-5472.CAN-11-2612 REFERENCE PMID:15951308 AUTHORS Bowen DT, Frew ME, Hills R, Gale RE, Wheatley K, Groves MJ, Langabeer SE, Kottaridis PD, Moorman AV, Burnett AK, Linch DC TITLE RAS mutation in acute myeloid leukemia is associated with distinct cytogenetic subgroups but does not influence outcome in patients younger than 60 years. JOURNAL Blood 106:2113-9 (2005) DOI:10.1182/blood-2005-03-0867 /// ENTRY 3845v2 Variant NAME KRAS mutation GENE KRAS KRAS proto-oncogene, GTPase [KO:K07827] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 190070 NETWORK nt06526 MAPK signaling DISEASE H01592 Medullary thyroid cancer H01738 Noonan syndrome H01745 Cardiofaciocutaneous syndrome H02541 Juvenile myelomonocytic leukemia REFERENCE PMID:36394128 AUTHORS Tartaglia M, Aoki Y, Gelb BD TITLE The molecular genetics of RASopathies: An update on novel disease genes and new disorders. JOURNAL Am J Med Genet C Semin Med Genet 190:425-439 (2022) DOI:10.1002/ajmg.c.32012 REFERENCE PMID:26249544 AUTHORS Addissie YA, Kotecha U, Hart RA, Martinez AF, Kruszka P, Muenke M TITLE Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the phenotype with a case report and review of the literature. JOURNAL Am J Med Genet A 167A:2657-63 (2015) DOI:10.1002/ajmg.a.37259 REFERENCE PMID:33796386 AUTHORS Gupta AK, Meena JP, Chopra A, Tanwar P, Seth R TITLE Juvenile myelomonocytic leukemia-A comprehensive review and recent advances in management. JOURNAL Am J Blood Res 11:1-21 (2021) /// ENTRY 387787v1 Variant NAME LIPT2 deficiency GENE LIPT2 lipoyl(octanoyl) transferase 2 [KO:K23735] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 617659 NETWORK nt06032 Lipoic acid metabolism DISEASE H02518 Neonatal severe encephalopathy with lactic acidosis and brain abnormalities REFERENCE PMID:28757203 AUTHORS Habarou F, Hamel Y, Haack TB, Feichtinger RG, Lebigot E, Marquardt I, Busiah K, Laroche C, Madrange M, Grisel C, Pontoizeau C, Eisermann M, Boutron A, Chretien D, Chadefaux-Vekemans B, Barouki R, Bole-Feysot C, Nitschke P, Goudin N, Boddaert N, Nemazanyy I, Delahodde A, Kolker S, Rodenburg RJ, Korenke GC, Meitinger T, Strom TM, Prokisch H, Rotig A, Ottolenghi C, Mayr JA, de Lonlay P TITLE Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy. JOURNAL Am J Hum Genet 101:283-290 (2017) DOI:10.1016/j.ajhg.2017.07.001 /// ENTRY 388753v1 Variant NAME COA6 mutation GENE COA6 cytochrome c oxidase assembly factor 6 [KO:K18179] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 614772 NETWORK nt06529 Thermogenesis DISEASE H01368 Cytochrome c oxidase (COX) deficiency REFERENCE PMID:25339201 AUTHORS Baertling F, A M van den Brand M, Hertecant JL, Al-Shamsi A, P van den Heuvel L, Distelmaier F, Mayatepek E, Smeitink JA, Nijtmans LG, Rodenburg RJ TITLE Mutations in COA6 cause cytochrome c oxidase deficiency and neonatal hypertrophic cardiomyopathy. JOURNAL Hum Mutat 36:34-8 (2015) DOI:10.1002/humu.22715 /// ENTRY 389434v1 Variant NAME IYD mutation GENE IYD iodotyrosine deiodinase [KO:K17231] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 612025 NETWORK nt06322 TRH-TSH-TH signaling DISEASE H00251 Thyroid dyshormonogenesis REFERENCE PMID:18434651 AUTHORS Moreno JC, Klootwijk W, van Toor H, Pinto G, D'Alessandro M, Leger A, Goudie D, Polak M, Gruters A, Visser TJ TITLE Mutations in the iodotyrosine deiodinase gene and hypothyroidism. JOURNAL N Engl J Med 358:1811-8 (2008) DOI:10.1056/NEJMoa0706819 REFERENCE PMID:18765512 AUTHORS Afink G, Kulik W, Overmars H, de Randamie J, Veenboer T, van Cruchten A, Craen M, Ris-Stalpers C TITLE Molecular characterization of iodotyrosine dehalogenase deficiency in patients with hypothyroidism. JOURNAL J Clin Endocrinol Metab 93:4894-901 (2008) DOI:10.1210/jc.2008-0865 REFERENCE PMID:30324792 AUTHORS Peters C, van Trotsenburg ASP, Schoenmakers N TITLE DIAGNOSIS OF ENDOCRINE DISEASE: Congenital hypothyroidism: update and perspectives JOURNAL Eur J Endocrinol 179:R297-R317 (2018) DOI:10.1530/EJE-18-0383 REFERENCE PMID:21543982 AUTHORS Grasberger H, Refetoff S TITLE Genetic causes of congenital hypothyroidism due to dyshormonogenesis. JOURNAL Curr Opin Pediatr 23:421-8 (2011) DOI:10.1097/MOP.0b013e32834726a4 /// ENTRY 3920v1 Variant NAME LAMP2 mutation GENE LAMP2 lysosomal associated membrane protein 2 [KO:K06528] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 309060 NETWORK nt06532 Autophagy DISEASE H00150 Danon disease REFERENCE PMID:25589223 AUTHORS Endo Y, Furuta A, Nishino I TITLE Danon disease: a phenotypic expression of LAMP-2 deficiency. JOURNAL Acta Neuropathol 129:391-8 (2015) DOI:10.1007/s00401-015-1385-4 REFERENCE PMID:31277291 AUTHORS Khandia R, Dadar M, Munjal A, Dhama K, Karthik K, Tiwari R, Yatoo MI, Iqbal HMN, Singh KP, Joshi SK, Chaicumpa W TITLE A Comprehensive Review of Autophagy and Its Various Roles in Infectious, Non-Infectious, and Lifestyle Diseases: Current Knowledge and Prospects for Disease Prevention, Novel Drug Design, and Therapy. JOURNAL Cells 8:cells8070674 (2019) DOI:10.3390/cells8070674 /// ENTRY 392255v1 Variant NAME GDF6 mutation GENE GDF6 growth differentiation factor 6 [KO:K20012] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 601147 NETWORK nt06507 TGFB signaling DISEASE H00484 Multiple synostosis syndrome REFERENCE PMID:26643732 AUTHORS Wang J, Yu T, Wang Z, Ohte S, Yao RE, Zheng Z, Geng J, Cai H, Ge Y, Li Y, Xu Y, Zhang Q, Gusella JF, Fu Q, Pregizer S, Rosen V, Shen Y TITLE A New Subtype of Multiple Synostoses Syndrome Is Caused by a Mutation in GDF6 That Decreases Its Sensitivity to Noggin and Enhances Its Potency as a BMP Signal. JOURNAL J Bone Miner Res 31:882-9 (2016) DOI:10.1002/jbmr.2761 /// ENTRY 3930v1 Variant NAME LBR deficiency GENE LBR lamin B receptor [KO:K19532] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 600024 NETWORK nt06034 Cholesterol biosynthesis DISEASE H00447 HEM skeletal dysplasia REFERENCE PMID:12618959 AUTHORS Waterham HR, Koster J, Mooyer P, Noort Gv G, Kelley RI, Wilcox WR, Wanders RJ, Hennekam RC, Oosterwijk JC TITLE Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor gene. JOURNAL Am J Hum Genet 72:1013-7 (2003) DOI:10.1086/373938 /// ENTRY 3932v1 Variant NAME LCK mutation GENE LCK LCK proto-oncogene, Src family tyrosine kinase [KO:K05856] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 153390 NETWORK nt06528 Calcium signaling DISEASE H00093 Combined immunodeficiency REFERENCE PMID:35091087 AUTHORS Latour S TITLE Inherited immunodeficiencies associated with proximal and distal defects in T cell receptor signaling and co-signaling. JOURNAL Biomed J 45:321-333 (2022) DOI:10.1016/j.bj.2022.01.013 /// ENTRY 3937v1 Variant NAME LCP2 mutation GENE LCP2 lymphocyte cytosolic protein 2 [KO:K07361] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 601603 NETWORK nt06528 Calcium signaling DISEASE H02526 Disorders of adaptive immunity REFERENCE PMID:35091087 AUTHORS Latour S TITLE Inherited immunodeficiencies associated with proximal and distal defects in T cell receptor signaling and co-signaling. JOURNAL Biomed J 45:321-333 (2022) DOI:10.1016/j.bj.2022.01.013 REFERENCE PMID:33231617 AUTHORS Lev A, Lee YN, Sun G, Hallumi E, Simon AJ, Zrihen KS, Levy S, Beit Halevi T, Papazian M, Shwartz N, Somekh I, Levy-Mendelovich S, Wolach B, Gavrieli R, Vernitsky H, Barel O, Javasky E, Stauber T, Ma CA, Zhang Y, Amariglio N, Rechavi G, Hendel A, Yablonski D, Milner JD, Somech R TITLE Inherited SLP76 deficiency in humans causes severe combined immunodeficiency, neutrophil and platelet defects. JOURNAL J Exp Med 218:e20201062 (2021) DOI:10.1084/jem.20201062 /// ENTRY 3939v1 Variant NAME LDHA deficiency GENE LDHA lactate dehydrogenase A [KO:K00016] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 150000 NETWORK nt06017 Glycogen metabolism DISEASE H01946 Glycogen storage disease type XI REFERENCE PMID:2334430 AUTHORS Maekawa M, Sudo K, Kanno T, Li SS TITLE Molecular characterization of genetic mutation in human lactate dehydrogenase-A (M) deficiency. JOURNAL Biochem Biophys Res Commun 168:677-82 (1990) DOI:10.1016/0006-291X(90)92374-9 /// ENTRY 3949v1 Variant NAME LDLR mutation GENE LDLR low density lipoprotein receptor [KO:K12473] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 606945 NETWORK nt06320 APOB-LDLR signaling DISEASE H00155 Familial hypercholesterolemia REFERENCE PMID:23375686 AUTHORS Bertolini S, Pisciotta L, Rabacchi C, Cefalu AB, Noto D, Fasano T, Signori A, Fresa R, Averna M, Calandra S TITLE Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy. JOURNAL Atherosclerosis 227:342-8 (2013) DOI:10.1016/j.atherosclerosis.2013.01.007 REFERENCE PMID:26165249 AUTHORS Di Taranto MD, D'Agostino MN, Fortunato G TITLE Functional characterization of mutant genes associated with autosomal dominant familial hypercholesterolemia: integration and evolution of genetic diagnosis. JOURNAL Nutr Metab Cardiovasc Dis 25:979-87 (2015) DOI:10.1016/j.numecd.2015.06.007 REFERENCE PMID:28405938 AUTHORS Sharifi M, Futema M, Nair D, Humphries SE TITLE Genetic Architecture of Familial Hypercholesterolaemia. JOURNAL Curr Cardiol Rep 19:44 (2017) DOI:10.1007/s11886-017-0848-8 REFERENCE PMID:21513517 AUTHORS Fahed AC, Nemer GM TITLE Familial hypercholesterolemia: the lipids or the genes? JOURNAL Nutr Metab (Lond) 8:23 (2011) DOI:10.1186/1743-7075-8-23 REFERENCE PMID:23776352 AUTHORS De Castro-Oros I, Pocovi M, Civeira F TITLE The genetic basis of familial hypercholesterolemia: inheritance, linkage, and mutations. JOURNAL Appl Clin Genet 3:53-64 (2010) DOI:10.2147/TACG.S8285 /// ENTRY 3955v1 Variant NAME LFNG mutation GENE LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase [KO:K05948] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 602576 NETWORK nt06511 NOTCH signaling DISEASE H00517 Spondylocostal dysostosis REFERENCE PMID:35332121 AUTHORS Zhou B, Lin W, Long Y, Yang Y, Zhang H, Wu K, Chu Q TITLE Notch signaling pathway: architecture, disease, and therapeutics. JOURNAL Signal Transduct Target Ther 7:95 (2022) DOI:10.1038/s41392-022-00934-y /// ENTRY 3973v1 Variant NAME LHCGR mutation GENE LHCGR luteinizing hormone/choriogonadotropin receptor [KO:K04248] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 152790 NETWORK nt06323 KISS1-GnRH-LH/FSH-E2 signaling DISEASE H00937 Precocious puberty REFERENCE PMID:9703386 AUTHORS Martin MM, Wu SM, Martin AL, Rennert OM, Chan WY TITLE Testicular seminoma in a patient with a constitutively activating mutation of the luteinizing hormone/chorionic gonadotropin receptor. JOURNAL Eur J Endocrinol 139:101-6 (1998) DOI:10.1530/eje.0.1390101 REFERENCE PMID:7757065 AUTHORS Kosugi S, Van Dop C, Geffner ME, Rabl W, Carel JC, Chaussain JL, Mori T, Merendino JJ Jr, Shenker A TITLE Characterization of heterogeneous mutations causing constitutive activation of the luteinizing hormone receptor in familial male precocious puberty. JOURNAL Hum Mol Genet 4:183-8 (1995) DOI:10.1093/hmg/4.2.183 REFERENCE PMID:7714085 AUTHORS Yano K, Saji M, Hidaka A, Moriya N, Okuno A, Kohn LD, Cutler GB Jr TITLE A new constitutively activating point mutation in the luteinizing hormone/choriogonadotropin receptor gene in cases of male-limited precocious puberty. JOURNAL J Clin Endocrinol Metab 80:1162-8 (1995) DOI:10.1210/jcem.80.4.7714085 REFERENCE PMID:30711030 AUTHORS Qiao J, Han B TITLE Diseases caused by mutations in luteinizing hormone/chorionic gonadotropin receptor. JOURNAL Prog Mol Biol Transl Sci 161:69-89 (2019) DOI:10.1016/bs.pmbts.2018.09.007 REFERENCE PMID:26483755 AUTHORS Narayan P TITLE Genetic Models for the Study of Luteinizing Hormone Receptor Function. JOURNAL Front Endocrinol (Lausanne) 6:152 (2015) DOI:10.3389/fendo.2015.00152 REFERENCE PMID:24931192 AUTHORS Ulloa-Aguirre A, Reiter E, Bousfield G, Dias JA, Huhtaniemi I TITLE Constitutive activity in gonadotropin receptors. JOURNAL Adv Pharmacol 70:37-80 (2014) DOI:10.1016/B978-0-12-417197-8.00002-X /// ENTRY 3978v1 Variant NAME LIG1 mutation GENE LIG1 DNA ligase 1 [KO:K10747] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 126391 NETWORK nt06504 Base excision repair nt06509 DNA replication DISEASE H00094 Immunodeficiency associated with DNA repair defects REFERENCE PMID:30395541 AUTHORS Maffucci P, Chavez J, Jurkiw TJ, O'Brien PJ, Abbott JK, Reynolds PR, Worth A, Notarangelo LD, Felgentreff K, Cortes P, Boisson B, Radigan L, Cobat A, Dinakar C, Ehlayel M, Ben-Omran T, Gelfand EW, Casanova JL, Cunningham-Rundles C TITLE Biallelic mutations in DNA ligase 1 underlie a spectrum of immune deficiencies. JOURNAL J Clin Invest 128:5489-5504 (2018) DOI:10.1172/JCI99629 /// ENTRY 3980v1 Variant NAME LIG3 mutation GENE LIG3 DNA ligase 3 [KO:K10776] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 600940 NETWORK nt06504 Base excision repair DISEASE H01390 Mitochondrial neurogastrointestinal encephalomyopathy REFERENCE PMID:33855352 AUTHORS Bonora E, Chakrabarty S, Kellaris G, Tsutsumi M, Bianco F, Bergamini C, Ullah F, Isidori F, Liparulo I, Diquigiovanni C, Masin L, Rizzardi N, Cratere MG, Boschetti E, Papa V, Maresca A, Cenacchi G, Casadio R, Martelli P, Matera I, Ceccherini I, Fato R, Raiola G, Arrigo S, Signa S, Sementa AR, Severino M, Striano P, Fiorillo C, Goto T, Uchino S, Oyazato Y, Nakamura H, Mishra SK, Yeh YS, Kato T, Nozu K, Tanboon J, Morioka I, Nishino I, Toda T, Goto YI, Ohtake A, Kosaki K, Yamaguchi Y, Nonaka I, Iijima K, Mimaki M, Kurahashi H, Raams A, MacInnes A, Alders M, Engelen M, Linthorst G, de Koning T, den Dunnen W, Dijkstra G, van Spaendonck K, van Gent DC, Aronica EM, Picco P, Carelli V, Seri M, Katsanis N, Duijkers FAM, Taniguchi-Ikeda M, De Giorgio R TITLE Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy. JOURNAL Brain 144:1451-1466 (2021) DOI:10.1093/brain/awab056 REFERENCE PMID:21390131 AUTHORS Gao Y, Katyal S, Lee Y, Zhao J, Rehg JE, Russell HR, McKinnon PJ TITLE DNA ligase III is critical for mtDNA integrity but not Xrcc1-mediated nuclear DNA repair. JOURNAL Nature 471:240-4 (2011) DOI:10.1038/nature09773 /// ENTRY 3981v1 Variant NAME LIG4 mutation GENE LIG4 DNA ligase 4 [KO:K10777] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 601837 NETWORK nt06506 Double-strand break repair DISEASE H02015 LIG4 syndrome REFERENCE PMID:20133615 AUTHORS Rucci F, Notarangelo LD, Fazeli A, Patrizi L, Hickernell T, Paganini T, Coakley KM, Detre C, Keszei M, Walter JE, Feldman L, Cheng HL, Poliani PL, Wang JH, Balter BB, Recher M, Andersson EM, Zha S, Giliani S, Terhorst C, Alt FW, Yan CT TITLE Homozygous DNA ligase IV R278H mutation in mice leads to leaky SCID and represents a model for human LIG4 syndrome. JOURNAL Proc Natl Acad Sci U S A 107:3024-9 (2010) DOI:10.1073/pnas.0914865107 /// ENTRY 3988v1 Variant NAME LIPA deficiency GENE LIPA lipase A, lysosomal acid type [KO:K01052] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 613497 DRUG_TARGET Sebelipase alfa: D10377 /// ENTRY 4000v1 Variant NAME LMNA mutation GENE LMNA lamin A/C [KO:K12641] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutation G608= ClinVar: 14500 dbSNP: rs58596362 REFERENCE PMID:12714972 AUTHORS Eriksson M, Brown WT, Gordon LB, Glynn MW, Singer J, Scott L, Erdos MR, Robbins CM, Moses TY, Berglund P, Dutra A, Pak E, Durkin S, Csoka AB, Boehnke M, Glover TW, Collins FS TITLE Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. JOURNAL Nature 423:293-8 (2003) DOI:10.1038/nature01629 REFERENCE PMID:18060063 AUTHORS McClintock D, Ratner D, Lokuge M, Owens DM, Gordon LB, Collins FS, Djabali K TITLE The mutant form of lamin A that causes Hutchinson-Gilford progeria is a biomarker of cellular aging in human skin. JOURNAL PLoS One 2:e1269 (2007) DOI:10.1371/journal.pone.0001269 REFERENCE PMID:27482812 AUTHORS Carrero D, Soria-Valles C, Lopez-Otin C TITLE Hallmarks of progeroid syndromes: lessons from mice and reprogrammed cells. JOURNAL Dis Model Mech 9:719-35 (2016) DOI:10.1242/dmm.024711 REFERENCE PMID:28660486 AUTHORS Ahmed MS, Ikram S, Bibi N, Mir A TITLE Hutchinson-Gilford Progeria Syndrome: A Premature Aging Disease. JOURNAL Mol Neurobiol 10.1007/s12035-017-0610-7 (2017) DOI:10.1007/s12035-017-0610-7 /// ENTRY 4005v1 Variant NAME LMO2 rearrangement GENE LMO2 LIM domain only 2 [KO:K15612] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION translocation t(11;14) (p13;q11) VARIATION translocation t(7;11)(q35;p13) VARIATION deletion del(11)(p12p13) NETWORK nt06240 Transcription DISEASE H00002 T-cell acute lymphoblastic leukemia REFERENCE PMID:26108219 AUTHORS Chambers J, Rabbitts TH TITLE LMO2 at 25 years: a paradigm of chromosomal translocation proteins. JOURNAL Open Biol 5:150062 (2015) DOI:10.1098/rsob.150062 REFERENCE PMID:23904235 AUTHORS Larmonie NS, Dik WA, Meijerink JP, Homminga I, van Dongen JJ, Langerak AW TITLE Breakpoint sites disclose the role of the V(D)J recombination machinery in the formation of T-cell receptor (TCR) and non-TCR associated aberrations in T-cell acute lymphoblastic leukemia. JOURNAL Haematologica 98:1173-84 (2013) DOI:10.3324/haematol.2012.082156 REFERENCE PMID:16873670 AUTHORS Van Vlierberghe P, van Grotel M, Beverloo HB, Lee C, Helgason T, Buijs-Gladdines J, Passier M, van Wering ER, Veerman AJ, Kamps WA, Meijerink JP, Pieters R TITLE The cryptic chromosomal deletion del(11)(p12p13) as a new activation mechanism of LMO2 in pediatric T-cell acute lymphoblastic leukemia. JOURNAL Blood 108:3520-9 (2006) DOI:10.1182/blood-2006-04-019927 /// ENTRY 4023v1 Variant NAME LPL variant GENE LPL lipoprotein lipase [KO:K01059] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutation S447* ClinVar: 1534 dbSNP: rs328 DRUG_TARGET Alipogene tiparvovec: D10843 REFERENCE PMID:9430364 AUTHORS Fisher RM, Humphries SE, Talmud PJ TITLE Common variation in the lipoprotein lipase gene: effects on plasma lipids and risk of atherosclerosis. JOURNAL Atherosclerosis 135:145-59 (1997) DOI:10.1016/S0021-9150(97)00199-8 /// ENTRY 4036v1 Variant NAME LRP2 mutation GENE LRP2 LDL receptor related protein 2 [KO:K06233] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 600073 NETWORK nt06501 HH signaling DISEASE H00886 Donnai-Barrow syndrome REFERENCE PMID:31781166 AUTHORS Sasai N, Toriyama M, Kondo T TITLE Hedgehog Signal and Genetic Disorders. JOURNAL Front Genet 10:1103 (2019) DOI:10.3389/fgene.2019.01103 /// ENTRY 4038v1 Variant NAME LRP4 mutation GENE LRP4 LDL receptor related protein 4 [KO:K20051] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 604270 NETWORK nt06505 WNT signaling DISEASE H00486 Sclerosteosis H00853 Cenani-Lenz syndactyly syndrome REFERENCE PMID:33258798 AUTHORS Rossi M, Battafarano G, De Martino V, Scillitani A, Minisola S, Del Fattore A TITLE Looking for new anabolic treatment from rare diseases of bone formation. JOURNAL J Endocrinol 248:R29-R40 (2021) DOI:10.1530/JOE-20-0285 REFERENCE PMID:32328030 AUTHORS Huybrechts Y, Mortier G, Boudin E, Van Hul W TITLE WNT Signaling and Bone: Lessons From Skeletal Dysplasias and Disorders. JOURNAL Front Endocrinol (Lausanne) 11:165 (2020) DOI:10.3389/fendo.2020.00165 /// ENTRY 4040v1 Variant NAME LRP6 overexpression GENE LRP6 LDL receptor related protein 6 [KO:K03068] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION overexpression NETWORK nt06215 WNT signaling nt06270 Breast cancer DISEASE H00031 Breast cancer REFERENCE PMID:21898546 AUTHORS King TD, Suto MJ, Li Y TITLE The Wnt/beta-catenin signaling pathway: a potential therapeutic target in the treatment of triple negative breast cancer. JOURNAL J Cell Biochem 113:13-8 (2012) DOI:10.1002/jcb.23350 /// ENTRY 4040v2 Variant NAME LRP6 mutation GENE LRP6 LDL receptor related protein 6 [KO:K03068] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 603507 NETWORK nt06505 WNT signaling DISEASE H00625 Tooth agenesis REFERENCE PMID:29969831 AUTHORS Yu M, Wong SW, Han D, Cai T TITLE Genetic analysis: Wnt and other pathways in nonsyndromic tooth agenesis. JOURNAL Oral Dis 25:646-651 (2019) DOI:10.1111/odi.12931 REFERENCE PMID:35052478 AUTHORS Martinez-Gil N, Ugartondo N, Grinberg D, Balcells S TITLE Wnt Pathway Extracellular Components and Their Essential Roles in Bone Homeostasis. JOURNAL Genes (Basel) 13:138 (2022) DOI:10.3390/genes13010138 /// ENTRY 4041v1 Variant NAME LRP5 mutation GENE LRP5 LDL receptor related protein 5 [KO:K03068] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 603506 NETWORK nt06505 WNT signaling DISEASE H00436 Osteopetrosis H00451 Osteoporosis-pseudoglioma syndrome H00589 Familial exudative vitreoretinopathy H01593 Osteoporosis H01774 Hyperostosis corticalis generalisata REFERENCE PMID:35052478 AUTHORS Martinez-Gil N, Ugartondo N, Grinberg D, Balcells S TITLE Wnt Pathway Extracellular Components and Their Essential Roles in Bone Homeostasis. JOURNAL Genes (Basel) 13:138 (2022) DOI:10.3390/genes13010138 REFERENCE PMID:32328030 AUTHORS Huybrechts Y, Mortier G, Boudin E, Van Hul W TITLE WNT Signaling and Bone: Lessons From Skeletal Dysplasias and Disorders. JOURNAL Front Endocrinol (Lausanne) 11:165 (2020) DOI:10.3389/fendo.2020.00165 /// ENTRY 404672v1 Variant NAME GTF2H5 mutation GENE GTF2H5 general transcription factor IIH subunit 5 [KO:K10845] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 608780 NETWORK nt06502 Nucleotide excision repair DISEASE H00866 Trichothiodystrophy REFERENCE PMID:30359777 AUTHORS Michalska E, Koppolu A, Dobrzanska A, Ploski R, Gruszfeld D TITLE A case of severe trichothiodystrophy 3 in a neonate due to mutation in the GTF2H5 gene: Clinical report. JOURNAL Eur J Med Genet 62:103557 (2019) DOI:10.1016/j.ejmg.2018.10.009 /// ENTRY 4047v1 Variant NAME LSS deficiency GENE LSS lanosterol synthase [KO:K01852] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 600909 NETWORK nt06034 Cholesterol biosynthesis DISEASE H02303 Alopecia-mental retardation syndrome REFERENCE PMID:30723320 AUTHORS Besnard T, Sloboda N, Goldenberg A, Kury S, Cogne B, Breheret F, Trochu E, Conrad S, Vincent M, Deb W, Balguerie X, Barbarot S, Baujat G, Ben-Omran T, Bursztejn AC, Carmignac V, Datta AN, Delignieres A, Faivre L, Gardie B, Gueant JL, Kuentz P, Lenglet M, Nassogne MC, Ramaekers V, Schnur RE, Si Y, Torti E, Thevenon J, Vabres P, Van Maldergem L, Wand D, Wiedemann A, Cariou B, Redon R, Lamaziere A, Bezieau S, Feillet F, Isidor B TITLE Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome. JOURNAL Genet Med 21:2025-2035 (2019) DOI:10.1038/s41436-019-0445-x /// ENTRY 4054v1 Variant NAME LTBP3 mutation GENE LTBP3 latent transforming growth factor beta binding protein 3 [KO:K08023] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 602090 NETWORK nt06507 TGFB signaling DISEASE H00625 Tooth agenesis H00900 Geleophysic dysplasia REFERENCE PMID:29969831 AUTHORS Yu M, Wong SW, Han D, Cai T TITLE Genetic analysis: Wnt and other pathways in nonsyndromic tooth agenesis. JOURNAL Oral Dis 25:646-651 (2019) DOI:10.1111/odi.12931 /// ENTRY 405753v1 Variant NAME DUOXA2 mutation GENE DUOXA2 dual oxidase maturation factor 2 [KO:K17232] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 612772 NETWORK nt06322 TRH-TSH-TH signaling DISEASE H00251 Thyroid dyshormonogenesis REFERENCE PMID:18042646 AUTHORS Zamproni I, Grasberger H, Cortinovis F, Vigone MC, Chiumello G, Mora S, Onigata K, Fugazzola L, Refetoff S, Persani L, Weber G TITLE Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidism. JOURNAL J Clin Endocrinol Metab 93:605-10 (2008) DOI:10.1210/jc.2007-2020 REFERENCE PMID:28541007 AUTHORS Zheng X, Ma SG, Guo ML, Qiu YL, Yang LX TITLE Compound Heterozygous Mutations in the DUOX2/DUOXA2 Genes Cause Congenital Hypothyroidism. JOURNAL Yonsei Med J 58:888-890 (2017) DOI:10.3349/ymj.2017.58.4.888 REFERENCE PMID:21543982 AUTHORS Grasberger H, Refetoff S TITLE Genetic causes of congenital hypothyroidism due to dyshormonogenesis. JOURNAL Curr Opin Pediatr 23:421-8 (2011) DOI:10.1097/MOP.0b013e32834726a4 /// ENTRY 4087v1 Variant NAME SMAD2 mutation GENE SMAD2 SMAD family member 2 [KO:K04500] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutation D450E COSM: 6023536 VARIATION mutation P445H COSM: 6053940 VARIATION mutation L440R COSM: 6053941 VARIATION mutation R133C COSM: 3378505 NETWORK nt06218 TGFB signaling nt06260 Colorectal cancer DISEASE H00020 Colorectal cancer REFERENCE PMID:8752209 AUTHORS Eppert K, Scherer SW, Ozcelik H, Pirone R, Hoodless P, Kim H, Tsui LC, Bapat B, Gallinger S, Andrulis IL, Thomsen GH, Wrana JL, Attisano L TITLE MADR2 maps to 18q21 and encodes a TGFbeta-regulated MAD-related protein that is functionally mutated in colorectal carcinoma. JOURNAL Cell 86:543-52 (1996) DOI:10.1016/S0092-8674(00)80128-2 REFERENCE PMID:23139211 AUTHORS Fleming NI, Jorissen RN, Mouradov D, Christie M, Sakthianandeswaren A, Palmieri M, Day F, Li S, Tsui C, Lipton L, Desai J, Jones IT, McLaughlin S, Ward RL, Hawkins NJ, Ruszkiewicz AR, Moore J, Zhu HJ, Mariadason JM, Burgess AW, Busam D, Zhao Q, Strausberg RL, Gibbs P, Sieber OM TITLE SMAD2, SMAD3 and SMAD4 mutations in colorectal cancer. JOURNAL Cancer Res 73:725-35 (2013) DOI:10.1158/0008-5472.CAN-12-2706 REFERENCE PMID:11170304 AUTHORS Roman C, Saha D, Beauchamp R. TITLE TGF-beta and colorectal carcinogenesis. JOURNAL Microsc Res Tech 52:450-7 (2001) DOI:10.1002/1097-0029(20010215)52:4<450::AID-JEMT1030>3.0.CO;2-O /// ENTRY 4087v2 Variant NAME SMAD2 mutation GENE SMAD2 SMAD family member 2 [KO:K04500] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 601366 NETWORK nt06507 TGFB signaling DISEASE H00800 Loeys-Dietz syndrome REFERENCE PMID:29967133 AUTHORS Cannaerts E, Kempers M, Maugeri A, Marcelis C, Gardeitchik T, Richer J, Micha D, Beauchesne L, Timmermans J, Vermeersch P, Meyten N, Chenier S, van de Beek G, Peeters N, Alaerts M, Schepers D, Van Laer L, Verstraeten A, Loeys B TITLE Novel pathogenic SMAD2 variants in five families with arterial aneurysm and dissection: further delineation of the phenotype. JOURNAL J Med Genet 56:220-227 (2019) DOI:10.1136/jmedgenet-2018-105304 /// ENTRY 4088v1 Variant NAME SMAD3 mutation GENE SMAD3 SMAD family member 3 [KO:K23605] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 603109 NETWORK nt06507 TGFB signaling DISEASE H00800 Loeys-Dietz syndrome REFERENCE PMID:30037098 AUTHORS Takeda N, Hara H, Fujiwara T, Kanaya T, Maemura S, Komuro I TITLE TGF-beta Signaling-Related Genes and Thoracic Aortic Aneurysms and Dissections. JOURNAL Int J Mol Sci 19:E2125 (2018) DOI:10.3390/ijms19072125 /// ENTRY 4089v1 Variant NAME SMAD4 mutation GENE SMAD4 SMAD family member 4 [KO:K04501] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 600993 NETWORK nt06507 TGFB signaling DISEASE H00533 Hereditary hemorrhagic telangiectasia H01023 Juvenile polyposis syndrome H02102 Myhre syndrome REFERENCE PMID:25097590 AUTHORS Cichy W, Klincewicz B, Plawski A TITLE Juvenile polyposis syndrome. JOURNAL Arch Med Sci 10:570-7 (2014) DOI:10.5114/aoms.2014.43750 REFERENCE PMID:33167572 AUTHORS Bernabeu C, Bayrak-Toydemir P, McDonald J, Letarte M TITLE Potential Second-Hits in Hereditary Hemorrhagic Telangiectasia. JOURNAL J Clin Med 9:E3571 (2020) DOI:10.3390/jcm9113571 REFERENCE PMID:24580733 AUTHORS Le Goff C, Michot C, Cormier-Daire V TITLE Myhre syndrome. JOURNAL Clin Genet 85:503-13 (2014) DOI:10.1111/cge.12365 /// ENTRY 4093v1 Variant NAME SMAD9 mutation GENE SMAD9 SMAD family member 9 [KO:K16791] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 603295 NETWORK nt06507 TGFB signaling DISEASE H01619 Primary pulmonary hypertension REFERENCE PMID:31406341 AUTHORS Southgate L, Machado RD, Graf S, Morrell NW TITLE Molecular genetic framework underlying pulmonary arterial hypertension. JOURNAL Nat Rev Cardiol 17:85-95 (2020) DOI:10.1038/s41569-019-0242-x REFERENCE PMID:30545973 AUTHORS Morrell NW, Aldred MA, Chung WK, Elliott CG, Nichols WC, Soubrier F, Trembath RC, Loyd JE TITLE Genetics and genomics of pulmonary arterial hypertension. JOURNAL Eur Respir J 53:1801899 (2019) DOI:10.1183/13993003.01899-2018 /// ENTRY 4094v1 Variant NAME IGH-MAF fusion GENE MAF MAF bZIP transcription factor [KO:K09035] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION translocation t(14;16)(q32;q23) NETWORK nt06240 Transcription DISEASE H00010 Multiple myeloma REFERENCE PMID:9616139 AUTHORS Chesi M, Bergsagel PL, Shonukan OO, Martelli ML, Brents LA, Chen T, Schrock E, Ried T, Kuehl WM TITLE Frequent dysregulation of the c-maf proto-oncogene at 16q23 by translocation to an Ig locus in multiple myeloma. JOURNAL Blood 91:4457-63 (1998) REFERENCE PMID:9865713 AUTHORS Avet-Loiseau H, Li JY, Facon T, Brigaudeau C, Morineau N, Maloisel F, Rapp MJ, Talmant P, Trimoreau F, Jaccard A, Harousseau JL, Bataille R TITLE High incidence of translocations t(11;14)(q13;q32) and t(4;14)(p16;q32) in patients with plasma cell malignancies. JOURNAL Cancer Res 58:5640-5 (1998) /// ENTRY 410v1 Variant NAME ARSA deficiency GENE ARSA arylsulfatase A [KO:K01134] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 607574 NETWORK nt06014 Sphingolipid degradation DISEASE H00127 Metachromatic leukodystrophy REFERENCE PMID:2574462 AUTHORS Gieselmann V, Polten A, Kreysing J, von Figura K TITLE Arylsulfatase A pseudodeficiency: loss of a polyadenylylation signal and N-glycosylation site. JOURNAL Proc Natl Acad Sci U S A 86:9436-40 (1989) DOI:10.1073/pnas.86.23.9436 /// ENTRY 411v1 Variant NAME ARSB deficiency GENE ARSB arylsulfatase B [KO:K01135] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 611542 NETWORK nt06012 Glycosaminoglycan degradation DISEASE H00131 Mucopolysaccharidosis type VI DRUG_TARGET Galsulfase: D06565 REFERENCE PMID:30118150 AUTHORS Tomanin R, Karageorgos L, Zanetti A, Al-Sayed M, Bailey M, Miller N, Sakuraba H, Hopwood JJ TITLE Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: Review and classification of published variants in the ARSB gene. JOURNAL Hum Mutat 39:1788-1802 (2018) DOI:10.1002/humu.23613 /// ENTRY 4125v1 Variant NAME MAN2B1 deficiency GENE MAN2B1 mannosidase alpha class 2B member 1 [KO:K12311] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 609458 DRUG_TARGET Velmanase alfa: D11024 /// ENTRY 4128v1 Variant NAME MAOA deficiency GENE MAOA monoamine oxidase A [KO:K00274] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 309850 NETWORK nt06028 Dopamine and serotonin metabolism DISEASE H00548 Brunner syndrome REFERENCE PMID:8211186 AUTHORS Brunner HG, Nelen M, Breakefield XO, Ropers HH, van Oost BA TITLE Abnormal behavior associated with a point mutation in the structural gene for monoamine oxidase A. JOURNAL Science 262:578-80 (1993) DOI:10.1126/science.8211186 /// ENTRY 4143v1 Variant NAME MAT1A deficiency GENE MAT1A methionine adenosyltransferase 1A [KO:K00789] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 610550 NETWORK nt06030 Methionine metabolism DISEASE H00184 Hypermethioninemia REFERENCE PMID:7560086 AUTHORS Ubagai T, Lei KJ, Huang S, Mudd SH, Levy HL, Chou JY TITLE Molecular mechanisms of an inborn error of methionine pathway. Methionine adenosyltransferase deficiency. JOURNAL J Clin Invest 96:1943-7 (1995) DOI:10.1172/JCI118240 /// ENTRY 4149v1 Variant NAME MAX mutation GENE MAX MYC associated factor X [KO:K04453] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 154950 NETWORK nt06523 Epigenetic regulation by Polycomb complexes nt06526 MAPK signaling DISEASE H01510 Malignant paraganglioma REFERENCE PMID:21685915 AUTHORS Comino-Mendez I, Gracia-Aznarez FJ, Schiavi F, Landa I, Leandro-Garcia LJ, Leton R, Honrado E, Ramos-Medina R, Caronia D, Pita G, Gomez-Grana A, de Cubas AA, Inglada-Perez L, Maliszewska A, Taschin E, Bobisse S, Pica G, Loli P, Hernandez-Lavado R, Diaz JA, Gomez-Morales M, Gonzalez-Neira A, Roncador G, Rodriguez-Antona C, Benitez J, Mannelli M, Opocher G, Robledo M, Cascon A TITLE Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma. JOURNAL Nat Genet 43:663-7 (2011) DOI:10.1038/ng.861 /// ENTRY 4153v1 Variant NAME MBL2 mutation GENE MBL2 mannose binding lectin 2 [KO:K03991] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 154545 NETWORK nt06513 Complement cascade DISEASE H00105 Mannose-binding lectin pathway component defects REFERENCE PMID:7707811 AUTHORS Summerfield JA, Ryder S, Sumiya M, Thursz M, Gorchein A, Monteil MA, Turner MW TITLE Mannose binding protein gene mutations associated with unusual and severe infections in adults. JOURNAL Lancet 345:886-9 (1995) DOI:10.1016/s0140-6736(95)90009-8 /// ENTRY 4158v1 Variant NAME MC2R mutation GENE MC2R melanocortin 2 receptor [KO:K04200] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutation S74I ClinVar: 3258 dbSNP: rs104894658 VARIATION mutation S120R ClinVar: 3260 dbSNP: rs104894656 VARIATION mutation R128C ClinVar: 3261 dbSNP: rs104894657 VARIATION mutation D107N ClinVar: 3262 dbSNP: rs104894661 VARIATION mutation C251F ClinVar: 3264 dbSNP: rs104894662 VARIATION mutation R137W ClinVar: 3265 dbSNP: rs104894660 VARIATION mutation Y254C ClinVar: 3266 dbSNP: rs28940892 NETWORK nt06310 CRH-ACTH-cortisol signaling DISEASE H00256 Familial glucocorticoid deficiency REFERENCE PMID:18059087 AUTHORS Chan LF, Clark AJ, Metherell LA TITLE Familial glucocorticoid deficiency: advances in the molecular understanding of ACTH action. JOURNAL Horm Res 69:75-82 (2008) DOI:10.1159/000111810 REFERENCE PMID:10714360 AUTHORS Tsigos C TITLE Isolated glucocorticoid deficiency and ACTH receptor mutations. JOURNAL Arch Med Res 30:475-80 (1999) DOI:10.1016/S0188-0128(99)00057-3 REFERENCE PMID:18840636 AUTHORS Chung TT, Webb TR, Chan LF, Cooray SN, Metherell LA, King PJ, Chapple JP, Clark AJ TITLE The majority of adrenocorticotropin receptor (melanocortin 2 receptor) mutations found in familial glucocorticoid deficiency type 1 lead to defective trafficking of the receptor to the cell surface. JOURNAL J Clin Endocrinol Metab 93:4948-54 (2008) DOI:10.1210/jc.2008-1744 REFERENCE PMID:23279877 AUTHORS Meimaridou E, Hughes CR, Kowalczyk J, Guasti L, Chapple JP, King PJ, Chan LF, Clark AJ, Metherell LA TITLE Familial glucocorticoid deficiency: New genes and mechanisms. JOURNAL Mol Cell Endocrinol 371:195-200 (2013) DOI:10.1016/j.mce.2012.12.010 REFERENCE PMID:17161331 AUTHORS Metherell LA, Chan LF, Clark AJ TITLE The genetics of ACTH resistance syndromes. JOURNAL Best Pract Res Clin Endocrinol Metab 20:547-60 (2006) DOI:10.1016/j.beem.2006.09.002 /// ENTRY 4171v1 Variant NAME MCM2 mutation GENE MCM2 minichromosome maintenance complex component 2 [KO:K02540] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 116945 NETWORK nt06506 Double-strand break repair nt06509 DNA replication DISEASE H00604 Deafness, autosomal dominant REFERENCE PMID:26196677 AUTHORS Gao J, Wang Q, Dong C, Chen S, Qi Y, Liu Y TITLE Whole Exome Sequencing Identified MCM2 as a Novel Causative Gene for Autosomal Dominant Nonsyndromic Deafness in a Chinese Family. JOURNAL PLoS One 10:e0133522 (2015) DOI:10.1371/journal.pone.0133522 /// ENTRY 4173v1 Variant NAME MCM4 mutation GENE MCM4 minichromosome maintenance complex component 4 [KO:K02212] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 602638 NETWORK nt06506 Double-strand break repair nt06509 DNA replication DISEASE H00094 Immunodeficiency associated with DNA repair defects REFERENCE PMID:22354167 AUTHORS Gineau L, Cognet C, Kara N, Lach FP, Dunne J, Veturi U, Picard C, Trouillet C, Eidenschenk C, Aoufouchi S, Alcais A, Smith O, Geissmann F, Feighery C, Abel L, Smogorzewska A, Stillman B, Vivier E, Casanova JL, Jouanguy E TITLE Partial MCM4 deficiency in patients with growth retardation, adrenal insufficiency, and natural killer cell deficiency. JOURNAL J Clin Invest 122:821-32 (2012) DOI:10.1172/JCI61014 /// ENTRY 4174v1 Variant NAME MCM5 mutation GENE MCM5 minichromosome maintenance complex component 5 [KO:K02209] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 602696 NETWORK nt06506 Double-strand break repair nt06509 DNA replication DISEASE H01889 Meier-Gorlin syndrome REFERENCE PMID:28198391 AUTHORS Vetro A, Savasta S, Russo Raucci A, Cerqua C, Sartori G, Limongelli I, Forlino A, Maruelli S, Perucca P, Vergani D, Mazzini G, Mattevi A, Stivala LA, Salviati L, Zuffardi O TITLE MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome. JOURNAL Eur J Hum Genet 25:646-650 (2017) DOI:10.1038/ejhg.2017.5 /// ENTRY 4179v1 Variant NAME CD46 mutation GENE CD46 CD46 molecule [KO:K04007] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 120920 NETWORK nt06513 Complement cascade DISEASE H01434 Atypical hemolytic uremic syndrome REFERENCE PMID:32950988 AUTHORS Avila Bernabeu AI, Cavero Escribano T, Cao Vilarino M TITLE Atypical Hemolytic Uremic Syndrome: New Challenges in the Complement Blockage Era. JOURNAL Nephron 144:537-549 (2020) DOI:10.1159/000508920 /// ENTRY 4193v1 Variant NAME MDM2 amplification GENE MDM2 MDM2 proto-oncogene [KO:K06643] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION amplification ClinVar: 268075 150740 dbVar: nsv917029 NETWORK nt06230 Cell cycle nt06273 Glioma DISEASE H00042 Glioma REFERENCE PMID:16434325 AUTHORS Bello MJ, Rey JA TITLE The p53/Mdm2/p14ARF cell cycle control pathway genes may be inactivated by genetic and epigenetic mechanisms in gliomas. JOURNAL Cancer Genet Cytogenet 164:172-3 (2006) DOI:10.1016/j.cancergencyto.2005.07.002 REFERENCE PMID:16319692 AUTHORS Arjona D, Bello MJ, Alonso ME, Isla A, De Campos JM, Vaquero J, Sarasa JL, Gutierrez M, Rey JA TITLE Real-time quantitative PCR analysis of regions involved in gene amplification reveals gene overdose in low-grade astrocytic gliomas. JOURNAL Diagn Mol Pathol 14:224-9 (2005) DOI:10.1097/01.pas.0000177799.58336.1a /// ENTRY 4210v1 Variant NAME MEFV mutation GENE MEFV MEFV innate immunity regulator, pyrin [KO:K12803] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 608107 NETWORK nt06521 NLR signaling DISEASE H00288 Familial Mediterranean fever H02590 Acute febrile neutrophilic dermatosis REFERENCE PMID:34635190 AUTHORS Masumoto J, Zhou W, Morikawa S, Hosokawa S, Taguchi H, Yamamoto T, Kurata M, Kaneko N TITLE Molecular biology of autoinflammatory diseases. JOURNAL Inflamm Regen 41:33 (2021) DOI:10.1186/s41232-021-00181-8 REFERENCE PMID:27906774 AUTHORS Aksentijevich I, McDermott MF TITLE Lessons from characterization and treatment of the autoinflammatory syndromes. JOURNAL Curr Opin Rheumatol 29:187-194 (2017) DOI:10.1097/BOR.0000000000000362 /// ENTRY 4221v1 Variant NAME MEN1 mutation GENE MEN1 menin 1 [KO:K14970] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutation L22R ClinVar: 16677 dbSNP: rs104894256 VARIATION mutation E363del ClinVar: 16685 dbSNP: rs869025185 VARIATION mutation W436R ClinVar: 16686 dbSNP: rs104894259 VARIATION mutation R527Ter ClinVar: 16688 dbSNP: rs104894261 NETWORK nt06360 Cushing syndrome DISEASE H00033 Adrenal carcinoma H00034 Carcinoid H00246 Primary hyperparathyroidism H00247 Multiple endocrine neoplasia syndrome H01102 Pituitary adenomas H01431 Cushing syndrome H01522 Zollinger-Ellison syndrome REFERENCE PMID:9103196 AUTHORS Chandrasekharappa SC, Guru SC, Manickam P, Olufemi SE, Collins FS, Emmert-Buck MR, Debelenko LV, Zhuang Z, Lubensky IA, Liotta LA, Crabtree JS, Wang Y, Roe BA, Weisemann J, Boguski MS, Agarwal SK, Kester MB, Kim YS, Heppner C, Dong Q, Spiegel AM, Burns AL, Marx SJ TITLE Positional cloning of the gene for multiple endocrine neoplasia-type 1. JOURNAL Science 276:404-7 (1997) DOI:10.1126/science.276.5311.404 /// ENTRY 4233v1 Variant NAME MET kinase domain mutation GENE MET MET proto-oncogene, receptor tyrosine kinase [KO:K05099] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutation V1110I ClinVar: 186141 dbSNP: rs5030821 COSM: 3724572 VARIATION mutation H1112Y ClinVar: 376068 dbSNP: rs121913244 COSM: 696 VARIATION mutation M1149T ClinVar: 13881 dbSNP: rs121913668 COSM: 704 VARIATION mutation V1206L ClinVar: 13882 dbSNP: rs121913669 COSM: 3724576 5015793 VARIATION mutation L1213V ClinVar: 13886 dbSNP: rs121913673 COSM: 688 VARIATION mutation V1238I ClinVar: 13883 dbSNP: rs121913670 COSM: 1673476 VARIATION mutation D1246H ClinVar: 376728 dbSNP: rs121913671 COSM: 689 VARIATION mutation M1268T ClinVar: 376126 dbSNP: rs121913245 COSM: 691 VARIATION mutation T1191I ClinVar: 13888 dbSNP: rs121913675 COSM: 693 VARIATION mutation M1268I ClinVar: 13889 dbSNP: rs121913676 COSM: 694 VARIATION mutation K1262R ClinVar: 13890 dbSNP: rs121913677 COSM: 695 VARIATION mutation H1112L COSM: 698 VARIATION mutation H1124D COSM: 697 NETWORK nt06210 ERK signaling nt06214 PI3K signaling nt06263 Hepatocellular carcinoma nt06264 Renal cell carcinoma nt06526 MAPK signaling nt06530 PI3K signaling DISEASE H00021 Renal cell carcinoma H00048 Hepatocellular carcinoma REFERENCE PMID:10327054 AUTHORS Schmidt L, Junker K, Nakaigawa N, Kinjerski T, Weirich G, Miller M, Lubensky I, Neumann HP, Brauch H, Decker J, Vocke C, Brown JA, Jenkins R, Richard S, Bergerheim U, Gerrard B, Dean M, Linehan WM, Zbar B TITLE Novel mutations of the MET proto-oncogene in papillary renal carcinomas. JOURNAL Oncogene 18:2343-50 (1999) DOI:10.1038/sj.onc.1202547 REFERENCE PMID:9927037 AUTHORS Park WS, Dong SM, Kim SY, Na EY, Shin MS, Pi JH, Kim BJ, Bae JH, Hong YK, Lee KS, Lee SH, Yoo NJ, Jang JJ, Pack S, Zhuang Z, Schmidt L, Zbar B, Lee JY TITLE Somatic mutations in the kinase domain of the Met/hepatocyte growth factor receptor gene in childhood hepatocellular carcinomas. JOURNAL Cancer Res 59:307-10 (1999) /// ENTRY 4233v2 Variant NAME MET overexpression GENE MET MET proto-oncogene, receptor tyrosine kinase [KO:K05099] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION overexpression NETWORK nt06210 ERK signaling nt06214 PI3K signaling nt06263 Hepatocellular carcinoma nt06526 MAPK signaling nt06530 PI3K signaling DISEASE H00048 Hepatocellular carcinoma REFERENCE PMID:27508192 AUTHORS Granito A, Guidetti E, Gramantieri L TITLE c-MET receptor tyrosine kinase as a molecular target in advanced hepatocellular carcinoma. JOURNAL J Hepatocell Carcinoma 2:29-38 (2015) DOI:10.2147/JHC.S77038 REFERENCE PMID:22218908 AUTHORS Kondo S, Ojima H, Tsuda H, Hashimoto J, Morizane C, Ikeda M, Ueno H, Tamura K, Shimada K, Kanai Y, Okusaka T TITLE Clinical impact of c-Met expression and its gene amplification in hepatocellular carcinoma. JOURNAL Int J Clin Oncol 18:207-13 (2013) DOI:10.1007/s10147-011-0361-9 /// ENTRY 4233v3 Variant NAME MET amplification GENE MET MET proto-oncogene, receptor tyrosine kinase [KO:K05099] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION amplification ClinVar: 59715 dbVar: nsv532243 NETWORK nt06210 ERK signaling nt06214 PI3K signaling nt06261 Gastric cancer nt06526 MAPK signaling nt06530 PI3K signaling DISEASE H00018 Gastric cancer REFERENCE PMID:25055117 AUTHORS Kawakami H, Okamoto I, Okamoto W, Tanizaki J, Nakagawa K, Nishio K TITLE Targeting MET Amplification as a New Oncogenic Driver. JOURNAL Cancers (Basel) 6:1540-52 (2014) DOI:10.3390/cancers6031540 REFERENCE PMID:26267324 AUTHORS Riquelme I, Saavedra K, Espinoza JA, Weber H, Garcia P, Nervi B, Garrido M, Corvalan AH, Roa JC, Bizama C TITLE Molecular classification of gastric cancer: Towards a pathway-driven targeted therapy. JOURNAL Oncotarget 6:24750-79 (2015) DOI:10.18632/oncotarget.4990 REFERENCE PMID:18381231 AUTHORS Panani AD TITLE Cytogenetic and molecular aspects of gastric cancer: clinical implications. JOURNAL Cancer Lett 266:99-115 (2008) DOI:10.1016/j.canlet.2008.02.053 REFERENCE PMID:16997151 AUTHORS Vauhkonen M, Vauhkonen H, Sipponen P TITLE Pathology and molecular biology of gastric cancer. JOURNAL Best Pract Res Clin Gastroenterol 20:651-74 (2006) DOI:10.1016/j.bpg.2006.03.016 /// ENTRY 4233v4 Variant NAME MET exon 14 skipping GENE MET MET proto-oncogene, receptor tyrosine kinase [KO:K05099] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutation D1028N COSM: 6056852 VARIATION mutation c.3028+1G>T COSM: 6108462 VARIATION deletion c.3025_3028+3del COSM: 6965225 NETWORK nt06210 ERK signaling nt06214 PI3K signaling nt06266 Non-small cell lung cancer nt06526 MAPK signaling nt06530 PI3K signaling DISEASE H00014 Non-small cell lung cancer DRUG_TARGET Capmatinib (DG02081): D10891 Gumarontinib hydrate: D12705 Tepotinib (DG03087): D11073 Vebreltinib: D12053 REFERENCE PMID:26892698 AUTHORS Mahjoubi L, Gazzah A, Besse B, Lacroix L, Soria JC TITLE A never-smoker lung adenocarcinoma patient with a MET exon 14 mutation (D1028N) and a rapid partial response after crizotinib. JOURNAL Invest New Drugs 34:397-8 (2016) DOI:10.1007/s10637-016-0332-0 REFERENCE PMID:25971938 AUTHORS Frampton GM, Ali SM, Rosenzweig M, Chmielecki J, Lu X, Bauer TM, Akimov M, Bufill JA, Lee C, Jentz D, Hoover R, Ou SH, Salgia R, Brennan T, Chalmers ZR, Jaeger S, Huang A, Elvin JA, Erlich R, Fichtenholtz A, Gowen KA, Greenbowe J, Johnson A, Khaira D, McMahon C, Sanford EM, Roels S, White J, Greshock J, Schlegel R, Lipson D, Yelensky R, Morosini D, Ross JS, Collisson E, Peters M, Stephens PJ, Miller VA TITLE Activation of MET via diverse exon 14 splicing alterations occurs in multiple tumor types and confers clinical sensitivity to MET inhibitors. JOURNAL Cancer Discov 5:850-9 (2015) DOI:10.1158/2159-8290.CD-15-0285 REFERENCE PMID:30032818 AUTHORS Li Y, Gao L, Ma D, Qiu T, Li W, Li W, Guo L, Xing P, Liu B, Deng L, Fu J, Li J, Yu Y, Ying J TITLE Identification of MET exon14 skipping by targeted DNA- and RNA-based next-generation sequencing in pulmonary sarcomatoid carcinomas. JOURNAL Lung Cancer 122:113-119 (2018) DOI:10.1016/j.lungcan.2018.06.001 REFERENCE PMID:28024693 AUTHORS Reungwetwattana T, Liang Y, Zhu V, Ou SI TITLE The race to target MET exon 14 skipping alterations in non-small cell lung cancer: The Why, the How, the Who, the Unknown, and the Inevitable. JOURNAL Lung Cancer 103:27-37 (2017) DOI:10.1016/j.lungcan.2016.11.011 REFERENCE PMID:29621416 AUTHORS Pasquini G, Giaccone G TITLE C-MET inhibitors for advanced non-small cell lung cancer. JOURNAL Expert Opin Investig Drugs 27:363-375 (2018) DOI:10.1080/13543784.2018.1462336 /// ENTRY 4233v5 Variant NAME MET mutation GENE MET MET proto-oncogene, receptor tyrosine kinase [KO:K05099] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 164860 NETWORK nt06528 Calcium signaling DISEASE H00605 Deafness, autosomal recessive REFERENCE PMID:25941349 AUTHORS Mujtaba G, Schultz JM, Imtiaz A, Morell RJ, Friedman TB, Naz S TITLE A mutation of MET, encoding hepatocyte growth factor receptor, is associated with human DFNB97 hearing loss. JOURNAL J Med Genet 52:548-52 (2015) DOI:10.1136/jmedgenet-2015-103023 /// ENTRY 4247v1 Variant NAME MGAT2 deficiency GENE MGAT2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase [KO:K00736] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 602616 NETWORK nt06015 N-Glycan biosynthesis DISEASE H00119 Congenital disorders of glycosylation type II REFERENCE PMID:11228641 AUTHORS Cormier-Daire V, Amiel J, Vuillaumier-Barrot S, Tan J, Durand G, Munnich A, Le Merrer M, Seta N TITLE Congenital disorders of glycosylation IIa cause growth retardation, mental retardation, and facial dysmorphism. JOURNAL J Med Genet 37:875-7 (2000) DOI:10.1136/jmg.37.11.875 /// ENTRY 427v1 Variant NAME ASAH1 deficiency GENE ASAH1 N-acylsphingosine amidohydrolase 1 [KO:K12348] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 613468 NETWORK nt06014 Sphingolipid degradation DISEASE H00138 Farber lipogranulomatosis REFERENCE PMID:8955159 AUTHORS Koch J, Gartner S, Li CM, Quintern LE, Bernardo K, Levran O, Schnabel D, Desnick RJ, Schuchman EH, Sandhoff K TITLE Molecular cloning and characterization of a full-length complementary DNA encoding human acid ceramidase. Identification Of the first molecular lesion causing Farber disease. JOURNAL J Biol Chem 271:33110-5 (1996) DOI:10.1074/jbc.271.51.33110 /// ENTRY 4287v1 Variant NAME ATXN3 mutation GENE ATXN3 ataxin 3 [KO:K11863] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 607047 NETWORK nt06462 Spinocerebellar ataxia nt06466 Pathways of neurodegeneration nt06532 Autophagy DISEASE H00063 Spinocerebellar ataxia (SCA) REFERENCE PMID:20301375 AUTHORS Paulson H TITLE Spinocerebellar Ataxia Type 3 JOURNAL GeneReviews (1993) REFERENCE PMID:7874163 AUTHORS Kawaguchi Y, Okamoto T, Taniwaki M, Aizawa M, Inoue M, Katayama S, Kawakami H, Nakamura S, Nishimura M, Akiguchi I, et al. TITLE CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. JOURNAL Nat Genet 8:221-8 (1994) DOI:10.1038/ng1194-221 /// ENTRY 4292v1 Variant NAME MLH1 mutation GENE MLH1 mutL homolog 1 [KO:K08734] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 120436 NETWORK nt06503 Mismatch repair DISEASE H02565 Hereditary nonpolyposis colorectal cancer H02566 Muir-Torre syndrome REFERENCE PMID:11781295 AUTHORS Trojan J, Zeuzem S, Randolph A, Hemmerle C, Brieger A, Raedle J, Plotz G, Jiricny J, Marra G TITLE Functional analysis of hMLH1 variants and HNPCC-related mutations using a human expression system. JOURNAL Gastroenterology 122:211-9 (2002) DOI:10.1053/gast.2002.30296 REFERENCE PMID:22692065 AUTHORS Baas AF, Gabbett M, Rimac M, Kansikas M, Raphael M, Nievelstein RA, Nicholls W, Offerhaus J, Bodmer D, Wernstedt A, Krabichler B, Strasser U, Nystrom M, Zschocke J, Robertson SP, van Haelst MM, Wimmer K TITLE Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome. JOURNAL Eur J Hum Genet 21:55-61 (2013) DOI:10.1038/ejhg.2012.117 /// ENTRY 4297v1 Variant NAME MLL-AF4 fusion GENE KMT2A lysine methyltransferase 2A [KO:K09186] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION translocation t(4;11) COSF: 1947 2067 1949 NETWORK nt06240 Transcription DISEASE H00001 B-cell acute lymphoblastic leukemia REFERENCE PMID:19141473 AUTHORS Guenther MG, Lawton LN, Rozovskaia T, Frampton GM, Levine SS, Volkert TL, Croce CM, Nakamura T, Canaani E, Young RA TITLE Aberrant chromatin at genes encoding stem cell regulators in human mixed-lineage leukemia. JOURNAL Genes Dev 22:3403-8 (2008) DOI:10.1101/gad.1741408 REFERENCE PMID:19535349 AUTHORS Slany RK TITLE The molecular biology of mixed lineage leukemia. JOURNAL Haematologica 94:984-93 (2009) DOI:10.3324/haematol.2008.002436 /// ENTRY 4297v2 Variant NAME MLL-ENL fusion GENE KMT2A lysine methyltransferase 2A [KO:K09186] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION translocation t(11;19)(q23;p13.3) COSF: 1959 1960 1805 NETWORK nt06240 Transcription DISEASE H00002 T-cell acute lymphoblastic leukemia REFERENCE PMID:8640717 AUTHORS Horstmann M, Argyriou-Tirita A, Borkhardt A, Kabisch H, Kapaun P, Winkler K, Haas OA TITLE MLL/ENL fusion in congenital acute lymphoblastic leukemia with a unique t(11;18;19). JOURNAL Cancer Genet Cytogenet 88:103-9 (1996) DOI:10.1016/0165-4608(95)00276-6 REFERENCE PMID:17145626 AUTHORS Fu JF, Liang DC, Shih LY TITLE Analysis of acute leukemias with MLL/ENL fusion transcripts: identification of two novel breakpoints in ENL. JOURNAL Am J Clin Pathol 127:24-30 (2007) DOI:10.1309/XKQLMPN81LGG3HDL /// ENTRY 4298v1 Variant NAME MLL-ENL fusion GENE MLLT1 MLLT1 super elongation complex subunit [KO:K15187] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION translocation t(11;19)(q23;p13.3) COSF: 1959 1960 1805 NETWORK nt06240 Transcription DISEASE H00002 T-cell acute lymphoblastic leukemia REFERENCE PMID:8640717 AUTHORS Horstmann M, Argyriou-Tirita A, Borkhardt A, Kabisch H, Kapaun P, Winkler K, Haas OA TITLE MLL/ENL fusion in congenital acute lymphoblastic leukemia with a unique t(11;18;19). JOURNAL Cancer Genet Cytogenet 88:103-9 (1996) DOI:10.1016/0165-4608(95)00276-6 REFERENCE PMID:17145626 AUTHORS Fu JF, Liang DC, Shih LY TITLE Analysis of acute leukemias with MLL/ENL fusion transcripts: identification of two novel breakpoints in ENL. JOURNAL Am J Clin Pathol 127:24-30 (2007) DOI:10.1309/XKQLMPN81LGG3HDL /// ENTRY 4299v1 Variant NAME MLL-AF4 fusion GENE AFF1 ALF transcription elongation factor 1 [KO:K15184] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION translocation t(4;11) COSF: 1947 2067 1949 NETWORK nt06240 Transcription DISEASE H00001 B-cell acute lymphoblastic leukemia REFERENCE PMID:19141473 AUTHORS Guenther MG, Lawton LN, Rozovskaia T, Frampton GM, Levine SS, Volkert TL, Croce CM, Nakamura T, Canaani E, Young RA TITLE Aberrant chromatin at genes encoding stem cell regulators in human mixed-lineage leukemia. JOURNAL Genes Dev 22:3403-8 (2008) DOI:10.1101/gad.1741408 REFERENCE PMID:19535349 AUTHORS Slany RK TITLE The molecular biology of mixed lineage leukemia. JOURNAL Haematologica 94:984-93 (2009) DOI:10.3324/haematol.2008.002436 /// ENTRY 4329v1 Variant NAME ALDH6A1 deficiency GENE ALDH6A1 aldehyde dehydrogenase 6 family member A1 [KO:K00140] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 603178 NETWORK nt06024 Valine, leucine and isoleucine degradation DISEASE H02285 Methylmalonate semialdehyde dehydrogenase deficiency REFERENCE PMID:10947204 AUTHORS Chambliss KL, Gray RG, Rylance G, Pollitt RJ, Gibson KM TITLE Molecular characterization of methylmalonate semialdehyde dehydrogenase deficiency. JOURNAL J Inherit Metab Dis 23:497-504 (2000) DOI:10.1023/A:1005616315087 /// ENTRY 4337v1 Variant NAME MOCS1 deficiency GENE MOCS1 molybdenum cofactor synthesis 1 [KO:K20967] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 603707 NETWORK nt06025 Molybdenum cofactor biosynthesis DISEASE H02311 Molybdenum cofactor deficiency DRUG_TARGET Fosdenopterin (DG03102): D11779 D11780 REFERENCE PMID:9921896 AUTHORS Reiss J, Christensen E, Kurlemann G, Zabot MT, Dorche C TITLE Genomic structure and mutational spectrum of the bicistronic MOCS1 gene defective in molybdenum cofactor deficiency type A. JOURNAL Hum Genet 103:639-44 (1998) DOI:10.1007/s004390050884 /// ENTRY 4338v1 Variant NAME MOCS2 deficiency GENE MOCS2 molybdenum cofactor synthesis 2 [KO:K03635] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 603708 NETWORK nt06025 Molybdenum cofactor biosynthesis DISEASE H02311 Molybdenum cofactor deficiency REFERENCE PMID:10053004 AUTHORS Reiss J, Dorche C, Stallmeyer B, Mendel RR, Cohen N, Zabot MT TITLE Human molybdopterin synthase gene: genomic structure and mutations in molybdenum cofactor deficiency type B. JOURNAL Am J Hum Genet 64:706-11 (1999) DOI:10.1086/302296 /// ENTRY 4351v1 Variant NAME MPI deficiency GENE MPI mannose phosphate isomerase [KO:K01809] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 154550 NETWORK nt06015 N-Glycan biosynthesis DISEASE H00118 Congenital disorders of glycosylation type I REFERENCE PMID:24421398 AUTHORS Sharma V, Nayak J, DeRossi C, Charbono A, Ichikawa M, Ng BG, Grajales-Esquivel E, Srivastava A, Wang L, He P, Scott DA, Russell J, Contreras E, Guess CM, Krajewski S, Del Rio-Tsonis K, Freeze HH TITLE Mannose supplements induce embryonic lethality and blindness in phosphomannose isomerase hypomorphic mice. JOURNAL FASEB J 28:1854-69 (2014) DOI:10.1096/fj.13-245514 /// ENTRY 4352v1 Variant NAME MPL mutation GENE MPL MPL proto-oncogene, thrombopoietin receptor [KO:K05082] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 159530 NETWORK nt06518 JAK-STAT signaling DISEASE H01605 Myelofibrosis H01612 Essential thrombocythemia REFERENCE PMID:34756243 AUTHORS Guglielmelli P, Calabresi L TITLE The MPL mutation. JOURNAL Int Rev Cell Mol Biol 365:163-178 (2021) DOI:10.1016/bs.ircmb.2021.09.003 REFERENCE PMID:14764528 AUTHORS Ding J, Komatsu H, Wakita A, Kato-Uranishi M, Ito M, Satoh A, Tsuboi K, Nitta M, Miyazaki H, Iida S, Ueda R TITLE Familial essential thrombocythemia associated with a dominant-positive activating mutation of the c-MPL gene, which encodes for the receptor for thrombopoietin. JOURNAL Blood 103:4198-200 (2004) DOI:10.1182/blood-2003-10-3471 REFERENCE PMID:18297515 AUTHORS Tefferi A TITLE JAK and MPL mutations in myeloid malignancies. JOURNAL Leuk Lymphoma 49:388-97 (2008) DOI:10.1080/10428190801895360 /// ENTRY 435v1 Variant NAME ASL deficiency GENE ASL argininosuccinate lyase [KO:K01755] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 608310 NETWORK nt06010 Urea cycle DISEASE H01028 Argininosuccinic aciduria REFERENCE PMID:2263616 AUTHORS Walker DC, McCloskey DA, Simard LR, McInnes RR TITLE Molecular analysis of human argininosuccinate lyase: mutant characterization and alternative splicing of the coding region. JOURNAL Proc Natl Acad Sci U S A 87:9625-9 (1990) DOI:10.1073/pnas.87.24.9625 /// ENTRY 4361v1 Variant NAME MRE11 mutation GENE MRE11 MRE11 homolog, double strand break repair nuclease [KO:K10865] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 600814 NETWORK nt06506 Double-strand break repair DISEASE H02014 Ataxia-telangiectasia-like syndrome REFERENCE PMID:10612394 AUTHORS Stewart GS, Maser RS, Stankovic T, Bressan DA, Kaplan MI, Jaspers NG, Raams A, Byrd PJ, Petrini JH, Taylor AM TITLE The DNA double-strand break repair gene hMRE11 is mutated in individuals with an ataxia-telangiectasia-like disorder. JOURNAL Cell 99:577-87 (1999) DOI:10.1016/S0092-8674(00)81547-0 REFERENCE PMID:30783677 AUTHORS Wang Z, Gong Y, Peng B, Shi R, Fan D, Zhao H, Zhu M, Zhang H, Lou Z, Zhou J, Zhu WG, Cong YS, Xu X TITLE MRE11 UFMylation promotes ATM activation. JOURNAL Nucleic Acids Res 47:4124-4135 (2019) DOI:10.1093/nar/gkz110 /// ENTRY 440138v1 Variant NAME ALG11 deficiency GENE ALG11 ALG11 alpha-1,2-mannosyltransferase [KO:K03844] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 613666 NETWORK nt06015 N-Glycan biosynthesis DISEASE H00118 Congenital disorders of glycosylation type I REFERENCE PMID:22213132 AUTHORS Thiel C, Rind N, Popovici D, Hoffmann GF, Hanson K, Conway RL, Adamski CR, Butler E, Scanlon R, Lambert M, Apeshiotis N, Thiels C, Matthijs G, Korner C TITLE Improved diagnostics lead to identification of three new patients with congenital disorder of glycosylation-Ip. JOURNAL Hum Mutat 33:485-7 (2012) DOI:10.1002/humu.22019 /// ENTRY 4436v1 Variant NAME MSH2 mutation GENE MSH2 mutS homolog 2 [KO:K08735] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 609309 REFERENCE PMID:15350299 AUTHORS Huang RL, Chao CF, Ding DC, Yu CP, Chang CC, Lai HC, Yu MH, Liu HS, Chu TY TITLE Multiple epithelial and nonepithelial tumors in hereditary nonpolyposis colorectal cancer: characterization of germline and somatic mutations of the MSH2 gene and heterogeneity of replication error phenotypes. JOURNAL Cancer Genet Cytogenet 153:108-14 (2004) DOI:10.1016/j.cancergencyto.2004.01.003 /// ENTRY 4437v1 Variant NAME MSH3 mutation GENE MSH3 mutS homolog 3 [KO:K08736] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 600887 NETWORK nt06503 Mismatch repair DISEASE H01025 Familial adenomatous polyposis REFERENCE PMID:27476653 AUTHORS Adam R, Spier I, Zhao B, Kloth M, Marquez J, Hinrichsen I, Kirfel J, Tafazzoli A, Horpaopan S, Uhlhaas S, Stienen D, Friedrichs N, Altmuller J, Laner A, Holzapfel S, Peters S, Kayser K, Thiele H, Holinski-Feder E, Marra G, Kristiansen G, Nothen MM, Buttner R, Moslein G, Betz RC, Brieger A, Lifton RP, Aretz S TITLE Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis. JOURNAL Am J Hum Genet 99:337-51 (2016) DOI:10.1016/j.ajhg.2016.06.015 /// ENTRY 445v1 Variant NAME ASS deficiency GENE ASS1 argininosuccinate synthase 1 [KO:K01940] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 603470 NETWORK nt06010 Urea cycle DISEASE H00185 Citrullinemia REFERENCE PMID:27287393 AUTHORS Diez-Fernandez C, Wellauer O, Gemperle C, Rufenacht V, Fingerhut R, Haberle J TITLE Kinetic mutations in argininosuccinate synthetase deficiency: characterisation and in vitro correction by substrate supplementation. JOURNAL J Med Genet 53:710-9 (2016) DOI:10.1136/jmedgenet-2016-103937 /// ENTRY 4508v1 Variant NAME ATP6 mutation GENE ATP6 ATP synthase F0 subunit 6 [KO:K02126] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 516060 NETWORK nt06529 Thermogenesis DISEASE H01369 ATP synthase deficiency REFERENCE PMID:28412374 AUTHORS Jackson CB, Hahn D, Schroter B, Richter U, Battersby BJ, Schmitt-Mechelke T, Marttinen P, Nuoffer JM, Schaller A TITLE A novel mitochondrial ATP6 frameshift mutation causing isolated complex V deficiency, ataxia and encephalomyopathy. JOURNAL Eur J Med Genet 60:345-351 (2017) DOI:10.1016/j.ejmg.2017.04.006 /// ENTRY 4522v1 Variant NAME MTHFD1 deficiency GENE MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 [KO:K00288] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 172460 NETWORK nt06037 Histidine metabolism DISEASE H00262 Neural tube defects, folate-sensitive REFERENCE PMID:16315005 AUTHORS De Marco P, Merello E, Calevo MG, Mascelli S, Raso A, Cama A, Capra V TITLE Evaluation of a methylenetetrahydrofolate-dehydrogenase 1958G>A polymorphism for neural tube defect risk. JOURNAL J Hum Genet 51:98-103 (2006) DOI:10.1007/s10038-005-0329-6 /// ENTRY 4524v1 Variant NAME MTHFR deficiency GENE MTHFR methylenetetrahydrofolate reductase [KO:K25004] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 607093 NETWORK nt06030 Methionine metabolism nt06037 Histidine metabolism DISEASE H00183 Homocystinuria H00262 Neural tube defects, folate-sensitive REFERENCE PMID:9781030 AUTHORS Kluijtmans LA, Wendel U, Stevens EM, van den Heuvel LP, Trijbels FJ, Blom HJ TITLE Identification of four novel mutations in severe methylenetetrahydrofolate reductase deficiency. JOURNAL Eur J Hum Genet 6:257-65 (1998) DOI:10.1038/sj.ejhg.5200182 /// ENTRY 4548v1 Variant NAME MTR deficiency GENE MTR 5-methyltetrahydrofolate-homocysteine methyltransferase [KO:K00548] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 156570 NETWORK nt06030 Methionine metabolism nt06037 Histidine metabolism DISEASE H00183 Homocystinuria H00262 Neural tube defects, folate-sensitive REFERENCE PMID:12068375 AUTHORS Watkins D, Ru M, Hwang HY, Kim CD, Murray A, Philip NS, Kim W, Legakis H, Wai T, Hilton JF, Ge B, Dore C, Hosack A, Wilson A, Gravel RA, Shane B, Hudson TJ, Rosenblatt DS TITLE Hyperhomocysteinemia due to methionine synthase deficiency, cblG: structure of the MTR gene, genotype diversity, and recognition of a common mutation, P1173L. JOURNAL Am J Hum Genet 71:143-53 (2002) DOI:10.1086/341354 /// ENTRY 4549v1 Variant NAME MT-RNR1 mutation associated with aminoglycoside ototoxity GENE RNR1 s-rRNA [KO:K26191] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION single nucleotide variant 1555A-G ClinVar: 9628 REFERENCE PMID:7689389 AUTHORS Prezant TR, Agapian JV, Bohlman MC, Bu X, Oztas S, Qiu WQ, Arnos KS, Cortopassi GA, Jaber L, Rotter JI, et al. TITLE Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. JOURNAL Nat Genet 4:289-94 (1993) DOI:10.1038/ng0793-289 /// ENTRY 4594v1 Variant NAME MMUT deficiency GENE MMUT methylmalonyl-CoA mutase [KO:K01847] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 609058 NETWORK nt06024 Valine, leucine and isoleucine degradation DISEASE H00174 Methylmalonic aciduria REFERENCE PMID:1977311 AUTHORS Jansen R, Ledley FD TITLE Heterozygous mutations at the mut locus in fibroblasts with mut0 methylmalonic acidemia identified by polymerase-chain-reaction cDNA cloning. JOURNAL Am J Hum Genet 47:808-14 (1990) /// ENTRY 4595v1 Variant NAME MUTYH mutation GENE MUTYH mutY DNA glycosylase [KO:K03575] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 604933 NETWORK nt06504 Base excision repair DISEASE H00018 Gastric cancer H01025 Familial adenomatous polyposis REFERENCE PMID:12606733 AUTHORS Sieber OM, Lipton L, Crabtree M, Heinimann K, Fidalgo P, Phillips RK, Bisgaard ML, Orntoft TF, Aaltonen LA, Hodgson SV, Thomas HJ, Tomlinson IP TITLE Multiple colorectal adenomas, classic adenomatous polyposis, and germ-line mutations in MYH. JOURNAL N Engl J Med 348:791-9 (2003) DOI:10.1056/NEJMoa025283 REFERENCE PMID:15273732 AUTHORS Kim CJ, Cho YG, Park CH, Kim SY, Nam SW, Lee SH, Yoo NJ, Lee JY, Park WS TITLE Genetic alterations of the MYH gene in gastric cancer. JOURNAL Oncogene 23:6820-2 (2004) DOI:10.1038/sj.onc.1207574 /// ENTRY 4597v1 Variant NAME MVD deficiency GENE MVD mevalonate diphosphate decarboxylase [KO:K01597] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 603236 NETWORK nt06034 Cholesterol biosynthesis DISEASE H01933 Porokeratosis REFERENCE PMID:26202976 AUTHORS Zhang Z, Li C, Wu F, Ma R, Luan J, Yang F, Liu W, Wang L, Zhang S, Liu Y, Gu J, Hua W, Fan M, Peng H, Meng X, Song N, Bi X, Gu C, Zhang Z, Huang Q, Chen L, Xiang L, Xu J, Zheng Z, Jiang Z TITLE Genomic variations of the mevalonate pathway in porokeratosis. JOURNAL Elife 4:e06322 (2015) DOI:10.7554/eLife.06322 /// ENTRY 4598v1 Variant NAME MVK deficiency GENE MVK mevalonate kinase [KO:K00869] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 251170 REFERENCE PMID:12563048 AUTHORS Prietsch V, Mayatepek E, Krastel H, Haas D, Zundel D, Waterham HR, Wanders RJ, Gibson KM, Hoffmann GF TITLE Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum. JOURNAL Pediatrics 111:258-61 (2003) DOI:10.1542/peds.111.2.258 REFERENCE PMID:22983302 AUTHORS Zhang SQ, Jiang T, Li M, Zhang X, Ren YQ, Wei SC, Sun LD, Cheng H, Li Y, Yin XY, Hu ZM, Wang ZY, Liu Y, Guo BR, Tang HY, Tang XF, Ding YT, Wang JB, Li P, Wu BY, Wang W, Yuan XF, Hou JS, Ha WW, Wang WJ, Zhai YJ, Wang J, Qian FF, Zhou FS, Chen G, Zuo XB, Zheng XD, Sheng YJ, Gao JP, Liang B, Li P, Zhu J, Xiao FL, Wang PG, Cui Y, Li H, Liu SX, Gao M, Fan X, Shen SK, Zeng M, Sun GQ, Xu Y, Hu JC, He TT, Li YR, Yang HM, Wang J, Yu ZY, Zhang HF, Hu X, Yang K, Wang J, Zhao SX, Zhou YW, Liu JJ, Du WD, Zhang L, Xia K, Yang S, Wang J, Zhang XJ TITLE Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis. JOURNAL Nat Genet 44:1156-60 (2012) DOI:10.1038/ng.2409 /// ENTRY 4609v1 Variant NAME MYC amplification GENE MYC MYC proto-oncogene, bHLH transcription factor [KO:K04377] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION amplification ClinVar: 160870 394884 153231 151754 149554 dbVar: nsv1067711 nsv2774782 nsv995229 nsv931643 nsv915813 NETWORK nt06230 Cell cycle nt06267 Small cell lung cancer DISEASE H00013 Small cell lung cancer REFERENCE PMID:9508209 AUTHORS Salgia R, Skarin AT TITLE Molecular abnormalities in lung cancer. JOURNAL J Clin Oncol 16:1207-17 (1998) DOI:10.1200/JCO.1998.16.3.1207 REFERENCE PMID:12379883 AUTHORS Osada H, Takahashi T. TITLE Genetic alterations of multiple tumor suppressors and oncogenes in the carcinogenesis and progression of lung cancer. JOURNAL Oncogene 21:7421-34 (2002) DOI:10.1038/sj.onc.1205802 REFERENCE PMID:15769940 AUTHORS Meuwissen R, Berns A. TITLE Mouse models for human lung cancer. JOURNAL Genes Dev 19:643-64 (2005) DOI:10.1101/gad.1284505 /// ENTRY 4613v1 Variant NAME MYCN amplification GENE MYCN MYCN proto-oncogene, bHLH transcription factor [KO:K09109] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION amplification ClinVar: 153441 148269 dbVar: nsv995434 nsv817269 NETWORK nt06240 Transcription DISEASE H00043 Neuroblastoma REFERENCE PMID:17976976 AUTHORS Ishola TA, Chung DH TITLE Neuroblastoma. JOURNAL Surg Oncol 16:149-56 (2007) DOI:10.1016/j.suronc.2007.09.005 REFERENCE PMID:24086065 AUTHORS Huang M, Weiss WA TITLE Neuroblastoma and MYCN. JOURNAL Cold Spring Harb Perspect Med 3:a014415 (2013) DOI:10.1101/cshperspect.a014415 /// ENTRY 462v1 Variant NAME SERPINC1 mutation GENE SERPINC1 serpin family C member 1 [KO:K03911] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 107300 NETWORK nt06514 Coagulation cascade DISEASE H00223 Inherited thrombophilia H01381 Antithrombin III deficiency REFERENCE PMID:19141163 AUTHORS Patnaik MM, Moll S TITLE Inherited antithrombin deficiency: a review. JOURNAL Haemophilia 14:1229-39 (2008) DOI:10.1111/j.1365-2516.2008.01830.x REFERENCE PMID:32623564 AUTHORS Zhang Y, Zhang Z, Shu S, Niu W, Xie W, Wan J, Zhai Z, Wang C TITLE The genetics of venous thromboembolism: a systematic review of thrombophilia families. JOURNAL J Thromb Thrombolysis 51:359-369 (2021) DOI:10.1007/s11239-020-02203-7 REFERENCE PMID:30608445 AUTHORS Peng Y, Wang T, Zheng Y, Lian A, Zhang D, Xiong Z, Hu Z, Xia K, Shu C TITLE A novel variation of SERPINC1 caused deep venous thrombosis in a Chinese family: A case report. JOURNAL Medicine (Baltimore) 98:e13999 (2019) DOI:10.1097/MD.0000000000013999 /// ENTRY 4638v1 Variant NAME MYLK mutation GENE MYLK myosin light chain kinase [KO:K00907] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 600922 NETWORK nt06528 Calcium signaling DISEASE H00801 Familial thoracic aortic aneurysm and dissection H01869 Megacystis microcolon intestinal hypoperistalsis syndrome REFERENCE PMID:21055718 AUTHORS Wang L, Guo DC, Cao J, Gong L, Kamm KE, Regalado E, Li L, Shete S, He WQ, Zhu MS, Offermanns S, Gilchrist D, Elefteriades J, Stull JT, Milewicz DM TITLE Mutations in myosin light chain kinase cause familial aortic dissections. JOURNAL Am J Hum Genet 87:701-7 (2010) DOI:10.1016/j.ajhg.2010.10.006 REFERENCE PMID:28602422 AUTHORS Halim D, Brosens E, Muller F, Wangler MF, Beaudet AL, Lupski JR, Akdemir ZHC, Doukas M, Stoop HJ, de Graaf BM, Brouwer RWW, van Ijcken WFJ, Oury JF, Rosenblatt J, Burns AJ, Tibboel D, Hofstra RMW, Alves MM TITLE Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. JOURNAL Am J Hum Genet 101:123-129 (2017) DOI:10.1016/j.ajhg.2017.05.011 /// ENTRY 4669v1 Variant NAME NAGLU deficiency GENE NAGLU N-acetyl-alpha-glucosaminidase [KO:K01205] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 609701 NETWORK nt06012 Glycosaminoglycan degradation DISEASE H00130 Mucopolysaccharidosis type III DRUG_TARGET Lesinidase alfa: D11199 REFERENCE PMID:26907177 AUTHORS Meijer OLM, Welling L, Valstar MJ, Hoefsloot LH, Bruggenwirth HT, van der Ploeg AT, Ruijter GJG, Wagemans T, Wijburg FA, van Vlies N TITLE Residual N-acetyl-alpha-glucosaminidase activity in fibroblasts correlates with disease severity in patients with mucopolysaccharidosis type IIIB. JOURNAL J Inherit Metab Dis 39:437-445 (2016) DOI:10.1007/s10545-016-9916-2 /// ENTRY 466v1 Variant NAME EWSR1-ATF1 fusion GENE ATF1 activating transcription factor 1 [KO:K09053] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION translocation t(12;22)(q13;q12) COSF: 218 222 220 NETWORK nt06240 Transcription DISEASE H00052 Clear cell sarcoma of soft tissue REFERENCE PMID:12951587 AUTHORS Helman LJ, Meltzer P. TITLE Mechanisms of sarcoma development. JOURNAL Nat Rev Cancer 3:685-94 (2003) DOI:10.1038/nrc1168 REFERENCE PMID:19734027 AUTHORS Thway K TITLE Pathology of soft tissue sarcomas. JOURNAL Clin Oncol (R Coll Radiol) 21:695-705 (2009) DOI:10.1016/j.clon.2009.07.016 /// ENTRY 4683v1 Variant NAME NBN mutation GENE NBN nibrin [KO:K10867] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 602667 NETWORK nt06506 Double-strand break repair DISEASE H01132 Aplastic anemia H01344 Nijmegen breakage syndrome REFERENCE PMID:15338273 AUTHORS Shimada H, Shimizu K, Mimaki S, Sakiyama T, Mori T, Shimasaki N, Yokota J, Nakachi K, Ohta T, Ohki M TITLE First case of aplastic anemia in a Japanese child with a homozygous missense mutation in the NBS1 gene (I171V) associated with genomic instability. JOURNAL Hum Genet 115:372-6 (2004) DOI:10.1007/s00439-004-1155-1 REFERENCE PMID:22373003 AUTHORS Chrzanowska KH, Gregorek H, Dembowska-Baginska B, Kalina MA, Digweed M TITLE Nijmegen breakage syndrome (NBS). JOURNAL Orphanet J Rare Dis 7:13 (2012) DOI:10.1186/1750-1172-7-13 /// ENTRY 4694v1 Variant NAME NDUFA1 mutation GENE NDUFA1 NADH:ubiquinone oxidoreductase subunit A1 [KO:K03945] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 300078 NETWORK nt06529 Thermogenesis DISEASE H00473 Mitochondrial complex I deficiency REFERENCE PMID:17262856 AUTHORS Fernandez-Moreira D, Ugalde C, Smeets R, Rodenburg RJ, Lopez-Laso E, Ruiz-Falco ML, Briones P, Martin MA, Smeitink JA, Arenas J TITLE X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy. JOURNAL Ann Neurol 61:73-83 (2007) DOI:10.1002/ana.21036 /// ENTRY 4695v1 Variant NAME NDUFA2 mutation GENE NDUFA2 NADH:ubiquinone oxidoreductase subunit A2 [KO:K03946] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 602137 NETWORK nt06529 Thermogenesis DISEASE H00473 Mitochondrial complex I deficiency REFERENCE PMID:18513682 AUTHORS Hoefs SJ, Dieteren CE, Distelmaier F, Janssen RJ, Epplen A, Swarts HG, Forkink M, Rodenburg RJ, Nijtmans LG, Willems PH, Smeitink JA, van den Heuvel LP TITLE NDUFA2 complex I mutation leads to Leigh disease. JOURNAL Am J Hum Genet 82:1306-15 (2008) DOI:10.1016/j.ajhg.2008.05.007 /// ENTRY 4697v1 Variant NAME NDUFA4 mutation GENE NDUFA4 NDUFA4 mitochondrial complex associated [KO:K03948] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 603833 NETWORK nt06529 Thermogenesis DISEASE H01368 Cytochrome c oxidase (COX) deficiency REFERENCE PMID:23746447 AUTHORS Pitceathly RD, Rahman S, Wedatilake Y, Polke JM, Cirak S, Foley AR, Sailer A, Hurles ME, Stalker J, Hargreaves I, Woodward CE, Sweeney MG, Muntoni F, Houlden H, Taanman JW, Hanna MG TITLE NDUFA4 mutations underlie dysfunction of a cytochrome c oxidase subunit linked to human neurological disease. JOURNAL Cell Rep 3:1795-805 (2013) DOI:10.1016/j.celrep.2013.05.005 /// ENTRY 4700v1 Variant NAME NDUFA6 mutation GENE NDUFA6 NADH:ubiquinone oxidoreductase subunit A6 [KO:K03950] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 602138 NETWORK nt06529 Thermogenesis DISEASE H00473 Mitochondrial complex I deficiency REFERENCE PMID:30245030 AUTHORS Alston CL, Heidler J, Dibley MG, Kremer LS, Taylor LS, Fratter C, French CE, Glasgow RIC, Feichtinger RG, Delon I, Pagnamenta AT, Dolling H, Lemonde H, Aiton N, Bjornstad A, Henneke L, Gartner J, Thiele H, Tauchmannova K, Quaghebeur G, Houstek J, Sperl W, Raymond FL, Prokisch H, Mayr JA, McFarland R, Poulton J, Ryan MT, Wittig I, Henneke M, Taylor RW TITLE Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency. JOURNAL Am J Hum Genet 103:592-601 (2018) DOI:10.1016/j.ajhg.2018.08.013 /// ENTRY 4702v1 Variant NAME NDUFA8 mutation GENE NDUFA8 NADH:ubiquinone oxidoreductase subunit A8 [KO:K03952] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 603359 NETWORK nt06529 Thermogenesis DISEASE H00473 Mitochondrial complex I deficiency REFERENCE PMID:32385911 AUTHORS Yatsuka Y, Kishita Y, Formosa LE, Shimura M, Nozaki F, Fujii T, Nitta KR, Ohtake A, Murayama K, Ryan MT, Okazaki Y TITLE A homozygous variant in NDUFA8 is associated with developmental delay, microcephaly, and epilepsy due to mitochondrial complex I deficiency. JOURNAL Clin Genet 98:155-165 (2020) DOI:10.1111/cge.13773 /// ENTRY 4704v1 Variant NAME NDUFA9 mutation GENE NDUFA9 NADH:ubiquinone oxidoreductase subunit A9 [KO:K03953] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 603834 NETWORK nt06529 Thermogenesis DISEASE H00473 Mitochondrial complex I deficiency REFERENCE PMID:28671271 AUTHORS Baertling F, Sanchez-Caballero L, van den Brand MAM, Fung CW, Chan SH, Wong VC, Hellebrekers DME, de Coo IFM, Smeitink JAM, Rodenburg RJT, Nijtmans LGJ TITLE NDUFA9 point mutations cause a variable mitochondrial complex I assembly defect. JOURNAL Clin Genet 93:111-118 (2018) DOI:10.1111/cge.13089 /// ENTRY 4705v1 Variant NAME NDUFA10 mutation GENE NDUFA10 NADH:ubiquinone oxidoreductase subunit A10 [KO:K03954] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 603835 NETWORK nt06529 Thermogenesis DISEASE H00473 Mitochondrial complex I deficiency REFERENCE PMID:21150889 AUTHORS Hoefs SJ, van Spronsen FJ, Lenssen EW, Nijtmans LG, Rodenburg RJ, Smeitink JA, van den Heuvel LP TITLE NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease. JOURNAL Eur J Hum Genet 19:270-4 (2011) DOI:10.1038/ejhg.2010.204 /// ENTRY 4709v1 Variant NAME NDUFB3 mutation GENE NDUFB3 NADH:ubiquinone oxidoreductase subunit B3 [KO:K03959] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 603839 NETWORK nt06529 Thermogenesis DISEASE H00473 Mitochondrial complex I deficiency REFERENCE PMID:22277967 AUTHORS Calvo SE, Compton AG, Hershman SG, Lim SC, Lieber DS, Tucker EJ, Laskowski A, Garone C, Liu S, Jaffe DB, Christodoulou J, Fletcher JM, Bruno DL, Goldblatt J, Dimauro S, Thorburn DR, Mootha VK TITLE Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. JOURNAL Sci Transl Med 4:118ra10 (2012) DOI:10.1126/scitranslmed.3003310 /// ENTRY 4714v1 Variant NAME NDUFB8 mutation GENE NDUFB8 NADH:ubiquinone oxidoreductase subunit B8 [KO:K03964] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 602140 NETWORK nt06529 Thermogenesis DISEASE H00473 Mitochondrial complex I deficiency REFERENCE PMID:29429571 AUTHORS Piekutowska-Abramczuk D, Assouline Z, Matakovic L, Feichtinger RG, Konarikova E, Jurkiewicz E, Stawinski P, Gusic M, Koller A, Pollak A, Gasperowicz P, Trubicka J, Ciara E, Iwanicka-Pronicka K, Rokicki D, Hanein S, Wortmann SB, Sperl W, Rotig A, Prokisch H, Pronicka E, Ploski R, Barcia G, Mayr JA TITLE NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy. JOURNAL Am J Hum Genet 102:460-467 (2018) DOI:10.1016/j.ajhg.2018.01.008 /// ENTRY 4715v1 Variant NAME NDUFB9 mutation GENE NDUFB9 NADH:ubiquinone oxidoreductase subunit B9 [KO:K03965] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 601445 NETWORK nt06529 Thermogenesis DISEASE H00473 Mitochondrial complex I deficiency REFERENCE PMID:22200994 AUTHORS Haack TB, Madignier F, Herzer M, Lamantea E, Danhauser K, Invernizzi F, Koch J, Freitag M, Drost R, Hillier I, Haberberger B, Mayr JA, Ahting U, Tiranti V, Rotig A, Iuso A, Horvath R, Tesarova M, Baric I, Uziel G, Rolinski B, Sperl W, Meitinger T, Zeviani M, Freisinger P, Prokisch H TITLE Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9. JOURNAL J Med Genet 49:83-9 (2012) DOI:10.1136/jmedgenet-2011-100577 /// ENTRY 4716v1 Variant NAME NDUFB10 mutation GENE NDUFB10 NADH:ubiquinone oxidoreductase subunit B10 [KO:K03966] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 603843 NETWORK nt06529 Thermogenesis DISEASE H00473 Mitochondrial complex I deficiency REFERENCE PMID:28040730 AUTHORS Friederich MW, Erdogan AJ, Coughlin CR 2nd, Elos MT, Jiang H, O'Rourke CP, Lovell MA, Wartchow E, Gowan K, Chatfield KC, Chick WS, Spector EB, Van Hove JLK, Riemer J TITLE Mutations in the accessory subunit NDUFB10 result in isolated complex I deficiency and illustrate the critical role of intermembrane space import for complex I holoenzyme assembly. JOURNAL Hum Mol Genet 26:702-716 (2017) DOI:10.1093/hmg/ddw431 /// ENTRY 4718v1 Variant NAME NDUFC2 mutation GENE NDUFC2 NADH:ubiquinone oxidoreductase subunit C2 [KO:K03968] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 603845 NETWORK nt06529 Thermogenesis DISEASE H00473 Mitochondrial complex I deficiency REFERENCE PMID:32969598 AUTHORS Alahmad A, Nasca A, Heidler J, Thompson K, Olahova M, Legati A, Lamantea E, Meisterknecht J, Spagnolo M, He L, Alameer S, Hakami F, Almehdar A, Ardissone A, Alston CL, McFarland R, Wittig I, Ghezzi D, Taylor RW TITLE Bi-allelic pathogenic variants in NDUFC2 cause early-onset Leigh syndrome and stalled biogenesis of complex I. JOURNAL EMBO Mol Med 12:e12619 (2020) DOI:10.15252/emmm.202012619 /// ENTRY 4719v1 Variant NAME NDUFS1 mutation GENE NDUFS1 NADH:ubiquinone oxidoreductase core subunit S1 [KO:K03934] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 157655 NETWORK nt06529 Thermogenesis DISEASE H00473 Mitochondrial complex I deficiency REFERENCE PMID:11349233 AUTHORS Benit P, Chretien D, Kadhom N, de Lonlay-Debeney P, Cormier-Daire V, Cabral A, Peudenier S, Rustin P, Munnich A, Rotig A TITLE Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency. JOURNAL Am J Hum Genet 68:1344-52 (2001) DOI:10.1086/320603 /// ENTRY 4720v1 Variant NAME NDUFS2 mutation GENE NDUFS2 NADH:ubiquinone oxidoreductase core subunit S2 [KO:K03935] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 602985 NETWORK nt06529 Thermogenesis DISEASE H00473 Mitochondrial complex I deficiency REFERENCE PMID:20819849 AUTHORS Tuppen HA, Hogan VE, He L, Blakely EL, Worgan L, Al-Dosary M, Saretzki G, Alston CL, Morris AA, Clarke M, Jones S, Devlin AM, Mansour S, Chrzanowska-Lightowlers ZM, Thorburn DR, McFarland R, Taylor RW TITLE The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families. JOURNAL Brain 133:2952-63 (2010) DOI:10.1093/brain/awq232 /// ENTRY 4722v1 Variant NAME NDUFS3 mutation GENE NDUFS3 NADH:ubiquinone oxidoreductase core subunit S3 [KO:K03936] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 603846 NETWORK nt06529 Thermogenesis DISEASE H00473 Mitochondrial complex I deficiency REFERENCE PMID:14729820 AUTHORS Benit P, Slama A, Cartault F, Giurgea I, Chretien D, Lebon S, Marsac C, Munnich A, Rotig A, Rustin P TITLE Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome. JOURNAL J Med Genet 41:14-7 (2004) DOI:10.1136/jmg.2003.014316 /// ENTRY 4723v1 Variant NAME NDUFV1 mutation GENE NDUFV1 NADH:ubiquinone oxidoreductase core subunit V1 [KO:K03942] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 161015 NETWORK nt06529 Thermogenesis DISEASE H00473 Mitochondrial complex I deficiency REFERENCE PMID:34807224 AUTHORS Zanette V, Valle DD, Telles BA, Robinson AJ, Monteiro V, Santos MLSF, Souza RLR, Beninca C TITLE NDUFV1 mutations in complex I deficiency: Case reports and review of symptoms. JOURNAL Genet Mol Biol 44:e20210149 (2021) DOI:10.1590/1678-4685-GMB-2021-0149 /// ENTRY 4724v1 Variant NAME NDUFS4 mutation GENE NDUFS4 NADH:ubiquinone oxidoreductase subunit S4 [KO:K03937] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 602694 NETWORK nt06529 Thermogenesis DISEASE H00473 Mitochondrial complex I deficiency REFERENCE PMID:35171275 AUTHORS Choi KM, Ryan KK, Yoon JC TITLE Adipose Mitochondrial Complex I Deficiency Modulates Inflammation and Glucose Homeostasis in a Sex-Dependent Manner. JOURNAL Endocrinology 163:6529386 (2022) DOI:10.1210/endocr/bqac018 /// ENTRY 4726v1 Variant NAME NDUFS6 mutation GENE NDUFS6 NADH:ubiquinone oxidoreductase subunit S6 [KO:K03939] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 603848 NETWORK nt06529 Thermogenesis DISEASE H00473 Mitochondrial complex I deficiency REFERENCE PMID:15372108 AUTHORS Kirby DM, Salemi R, Sugiana C, Ohtake A, Parry L, Bell KM, Kirk EP, Boneh A, Taylor RW, Dahl HH, Ryan MT, Thorburn DR TITLE NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency. JOURNAL J Clin Invest 114:837-45 (2004) DOI:10.1172/JCI20683 /// ENTRY 4728v1 Variant NAME NDUFS8 mutation GENE NDUFS8 NADH:ubiquinone oxidoreductase core subunit S8 [KO:K03941] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 602141 NETWORK nt06529 Thermogenesis DISEASE H00473 Mitochondrial complex I deficiency REFERENCE PMID:22499348 AUTHORS Haack TB, Haberberger B, Frisch EM, Wieland T, Iuso A, Gorza M, Strecker V, Graf E, Mayr JA, Herberg U, Hennermann JB, Klopstock T, Kuhn KA, Ahting U, Sperl W, Wilichowski E, Hoffmann GF, Tesarova M, Hansikova H, Zeman J, Plecko B, Zeviani M, Wittig I, Strom TM, Schuelke M, Freisinger P, Meitinger T, Prokisch H TITLE Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. JOURNAL J Med Genet 49:277-83 (2012) DOI:10.1136/jmedgenet-2012-100846 /// ENTRY 4729v1 Variant NAME NDUFV2 mutation GENE NDUFV2 NADH:ubiquinone oxidoreductase core subunit V2 [KO:K03943] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 600532 NETWORK nt06529 Thermogenesis DISEASE H00473 Mitochondrial complex I deficiency REFERENCE PMID:12754703 AUTHORS Benit P, Beugnot R, Chretien D, Giurgea I, De Lonlay-Debeney P, Issartel JP, Corral-Debrinski M, Kerscher S, Rustin P, Rotig A, Munnich A TITLE Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy. JOURNAL Hum Mutat 21:582-6 (2003) DOI:10.1002/humu.10225 /// ENTRY 472v1 Variant NAME ATM mutation GENE ATM ATM serine/threonine kinase [KO:K04728] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 607585 NETWORK nt06506 Double-strand break repair DISEASE H00005 Chronic lymphocytic leukemia H00064 Ataxia telangiectasia REFERENCE PMID:30549301 AUTHORS Schon K, van Os NJH, Oscroft N, Baxendale H, Scoffings D, Ray J, Suri M, Whitehouse WP, Mehta PR, Everett N, Bottolo L, van de Warrenburg BP, Byrd PJ, Weemaes C, Willemsen MA, Tischkowitz M, Taylor AM, Hensiek AE TITLE Genotype, extrapyramidal features, and severity of variant ataxia-telangiectasia. JOURNAL Ann Neurol 85:170-180 (2019) DOI:10.1002/ana.25394 REFERENCE PMID:9887333 AUTHORS Sandoval N, Platzer M, Rosenthal A, Dork T, Bendix R, Skawran B, Stuhrmann M, Wegner RD, Sperling K, Banin S, Shiloh Y, Baumer A, Bernthaler U, Sennefelder H, Brohm M, Weber BH, Schindler D TITLE Characterization of ATM gene mutations in 66 ataxia telangiectasia families. JOURNAL Hum Mol Genet 8:69-79 (1999) DOI:10.1093/hmg/8.1.69 /// ENTRY 4763v1 Variant NAME NF1 mutation GENE NF1 neurofibromin 1 [KO:K08052] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 613113 NETWORK nt06526 MAPK signaling DISEASE H01437 Neurofibromatosis type 1 H01510 Malignant paraganglioma H02188 Watson syndrome H02189 Neurofibromatosis-Noonan syndrome H02541 Juvenile myelomonocytic leukemia REFERENCE PMID:36394128 AUTHORS Tartaglia M, Aoki Y, Gelb BD TITLE The molecular genetics of RASopathies: An update on novel disease genes and new disorders. JOURNAL Am J Med Genet C Semin Med Genet 190:425-439 (2022) DOI:10.1002/ajmg.c.32012 REFERENCE PMID:33796386 AUTHORS Gupta AK, Meena JP, Chopra A, Tanwar P, Seth R TITLE Juvenile myelomonocytic leukemia-A comprehensive review and recent advances in management. JOURNAL Am J Blood Res 11:1-21 (2021) /// ENTRY 476v1 Variant NAME ATP1A1 mutation GENE ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 [KO:K01539] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutation L104R ClinVar: 162466 dbSNP: rs11540945 VARIATION mutation V332G ClinVar: 162468 dbSNP: rs724160010 VARIATION mutation F100_L104del ClinVar: 162465 dbSNP: rs724160008 NETWORK nt06316 Renin-angiotensin-aldosterone signaling DISEASE H01603 Primary aldosteronism REFERENCE PMID:27485459 AUTHORS Dutta RK, Soderkvist P, Gimm O TITLE Genetics of primary hyperaldosteronism. JOURNAL Endocr Relat Cancer 23:R437-54 (2016) DOI:10.1530/ERC-16-0055 REFERENCE PMID:23416519 AUTHORS Beuschlein F, Boulkroun S, Osswald A, Wieland T, Nielsen HN, Lichtenauer UD, Penton D, Schack VR, Amar L, Fischer E, Walther A, Tauber P, Schwarzmayr T, Diener S, Graf E, Allolio B, Samson-Couterie B, Benecke A, Quinkler M, Fallo F, Plouin PF, Mantero F, Meitinger T, Mulatero P, Jeunemaitre X, Warth R, Vilsen B, Zennaro MC, Strom TM, Reincke M TITLE Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension. JOURNAL Nat Genet 45:440-4, 444e1-2 (2013) DOI:10.1038/ng.2550 /// ENTRY 4780v1 Variant NAME NFE2L2 mutation GENE NFE2L2 NFE2 like bZIP transcription factor 2 [KO:K05638] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutation D29G ClinVar: 376464 dbSNP: rs1057519921 COSM: 132858 VARIATION mutation T80P COSM: 132988 VARIATION mutation G81V COSM: 132961 VARIATION mutation D29H ClinVar: 376461 dbSNP: rs1057519920 COSM: 124736 VARIATION mutation E82G COSM: 132853 VARIATION mutation E82D COSM: 132860 NETWORK nt06226 KEAP1-NRF2 signaling nt06263 Hepatocellular carcinoma DISEASE H00048 Hepatocellular carcinoma REFERENCE PMID:22561517 AUTHORS Guichard C, Amaddeo G, Imbeaud S, Ladeiro Y, Pelletier L, Maad IB, Calderaro J, Bioulac-Sage P, Letexier M, Degos F, Clement B, Balabaud C, Chevet E, Laurent A, Couchy G, Letouze E, Calvo F, Zucman-Rossi J TITLE Integrated analysis of somatic mutations and focal copy-number changes identifies key genes and pathways in hepatocellular carcinoma. JOURNAL Nat Genet 44:694-8 (2012) DOI:10.1038/ng.2256 /// ENTRY 4824v1 Variant NAME NKX3-1 loss GENE NKX3-1 NK3 homeobox 1 [KO:K09348] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION Allelic loss on 8p NETWORK nt06214 PI3K signaling nt06272 Prostate cancer DISEASE H00024 Prostate cancer REFERENCE PMID:20588175 AUTHORS Gurel B, Ali TZ, Montgomery EA, Begum S, Hicks J, Goggins M, Eberhart CG, Clark DP, Bieberich CJ, Epstein JI, De Marzo AM TITLE NKX3.1 as a marker of prostatic origin in metastatic tumors. JOURNAL Am J Surg Pathol 34:1097-105 (2010) DOI:10.1097/PAS.0b013e3181e6cbf3 REFERENCE PMID:16061659 AUTHORS Ouyang X, DeWeese TL, Nelson WG, Abate-Shen C TITLE Loss-of-function of Nkx3.1 promotes increased oxidative damage in prostate carcinogenesis. JOURNAL Cancer Res 65:6773-9 (2005) DOI:10.1158/0008-5472.CAN-05-1948 /// ENTRY 4838v1 Variant NAME NODAL mutation GENE NODAL nodal growth differentiation factor [KO:K04666] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 601265 NETWORK nt06507 TGFB signaling DISEASE H00632 Heterotaxy REFERENCE PMID:11376438 AUTHORS Kathiriya IS, Srivastava D TITLE Left-right asymmetry and cardiac looping: implications for cardiac development and congenital heart disease. JOURNAL Am J Med Genet 97:271-9 (2000) DOI:10.1002/1096-8628(200024)97:4<271::aid-ajmg1277>3.0.co;2-o REFERENCE PMID:19064609 AUTHORS Mohapatra B, Casey B, Li H, Ho-Dawson T, Smith L, Fernbach SD, Molinari L, Niesh SR, Jefferies JL, Craigen WJ, Towbin JA, Belmont JW, Ware SM TITLE Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations. JOURNAL Hum Mol Genet 18:861-71 (2009) DOI:10.1093/hmg/ddn411 /// ENTRY 4851v1 Variant NAME NOTCH1 overexpression GENE NOTCH1 notch receptor 1 [KO:K02599] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION overexpression NETWORK nt06216 NOTCH signaling nt06270 Breast cancer DISEASE H00031 Breast cancer REFERENCE PMID:26968398 AUTHORS Rangel MC, Bertolette D, Castro NP, Klauzinska M, Cuttitta F, Salomon DS TITLE Developmental signaling pathways regulating mammary stem cells and contributing to the etiology of triple-negative breast cancer. JOURNAL Breast Cancer Res Treat 156:211-26 (2016) DOI:10.1007/s10549-016-3746-7 REFERENCE PMID:26040571 AUTHORS Jamdade VS, Sethi N, Mundhe NA, Kumar P, Lahkar M, Sinha N TITLE Therapeutic targets of triple-negative breast cancer: a review. JOURNAL Br J Pharmacol 172:4228-37 (2015) DOI:10.1111/bph.13211 REFERENCE PMID:23196196 AUTHORS Karamboulas C, Ailles L TITLE Developmental signaling pathways in cancer stem cells of solid tumors. JOURNAL Biochim Biophys Acta 1830:2481-95 (2013) DOI:10.1016/j.bbagen.2012.11.008 /// ENTRY 4851v2 Variant NAME NOTCH1 mutation GENE NOTCH1 notch receptor 1 [KO:K02599] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 190198 NETWORK nt06511 NOTCH signaling DISEASE H00554 Aortic valve disease H01413 Adams-Oliver syndrome REFERENCE PMID:28512196 AUTHORS Masek J, Andersson ER TITLE The developmental biology of genetic Notch disorders. JOURNAL Development 144:1743-1763 (2017) DOI:10.1242/dev.148007 REFERENCE PMID:35332121 AUTHORS Zhou B, Lin W, Long Y, Yang Y, Zhang H, Wu K, Chu Q TITLE Notch signaling pathway: architecture, disease, and therapeutics. JOURNAL Signal Transduct Target Ther 7:95 (2022) DOI:10.1038/s41392-022-00934-y /// ENTRY 4853v1 Variant NAME NOTCH2 mutation GENE NOTCH2 notch receptor 2 [KO:K20994] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 600275 NETWORK nt06511 NOTCH signaling DISEASE H00551 Alagille syndrome H00623 Hajdu-Cheney syndrome REFERENCE PMID:35332121 AUTHORS Zhou B, Lin W, Long Y, Yang Y, Zhang H, Wu K, Chu Q TITLE Notch signaling pathway: architecture, disease, and therapeutics. JOURNAL Signal Transduct Target Ther 7:95 (2022) DOI:10.1038/s41392-022-00934-y /// ENTRY 4854v1 Variant NAME NOTCH3 mutation GENE NOTCH3 notch receptor 3 [KO:K20995] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 600276 NETWORK nt06511 NOTCH signaling DISEASE H00536 Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) H01893 Lateral meningocele syndrome H01910 Infantile myofibromatosis REFERENCE PMID:28512196 AUTHORS Masek J, Andersson ER TITLE The developmental biology of genetic Notch disorders. JOURNAL Development 144:1743-1763 (2017) DOI:10.1242/dev.148007 /// ENTRY 4855v1 Variant NAME NOTCH4 overexpression GENE NOTCH4 notch receptor 4 [KO:K20996] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION overexpression NETWORK nt06216 NOTCH signaling nt06270 Breast cancer DISEASE H00031 Breast cancer REFERENCE PMID:26968398 AUTHORS Rangel MC, Bertolette D, Castro NP, Klauzinska M, Cuttitta F, Salomon DS TITLE Developmental signaling pathways regulating mammary stem cells and contributing to the etiology of triple-negative breast cancer. JOURNAL Breast Cancer Res Treat 156:211-26 (2016) DOI:10.1007/s10549-016-3746-7 REFERENCE PMID:26040571 AUTHORS Jamdade VS, Sethi N, Mundhe NA, Kumar P, Lahkar M, Sinha N TITLE Therapeutic targets of triple-negative breast cancer: a review. JOURNAL Br J Pharmacol 172:4228-37 (2015) DOI:10.1111/bph.13211 REFERENCE PMID:23196196 AUTHORS Karamboulas C, Ailles L TITLE Developmental signaling pathways in cancer stem cells of solid tumors. JOURNAL Biochim Biophys Acta 1830:2481-95 (2013) DOI:10.1016/j.bbagen.2012.11.008 /// ENTRY 487v1 Variant NAME ATP2A1 mutation GENE ATP2A1 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1 [KO:K05853] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 108730 NETWORK nt06528 Calcium signaling DISEASE H01129 Brody myopathy REFERENCE PMID:32040565 AUTHORS Molenaar JP, Verhoeven JI, Rodenburg RJ, Kamsteeg EJ, Erasmus CE, Vicart S, Behin A, Bassez G, Magot A, Pereon Y, Brandom BW, Guglielmi V, Vattemi G, Chevessier F, Mathieu J, Franques J, Suetterlin K, Hanna MG, Guyant-Marechal L, Snoeck MM, Roberts ME, Kuntzer T, Fernandez-Torron R, Martinez-Arroyo A, Seeger J, Kusters B, Treves S, van Engelen BG, Eymard B, Voermans NC, Sternberg D TITLE Clinical, morphological and genetic characterization of Brody disease: an international study of 40 patients. JOURNAL Brain 143:452-466 (2020) DOI:10.1093/brain/awz410 /// ENTRY 488v1 Variant NAME ATP2A2 mutation GENE ATP2A2 ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2 [KO:K05853] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 108740 NETWORK nt06528 Calcium signaling DISEASE H00715 Darier disease H00755 Acrokeratosis verruciformis REFERENCE PMID:12542527 AUTHORS Dhitavat J, Macfarlane S, Dode L, Leslie N, Sakuntabhai A, MacSween R, Saihan E, Hovnanian A TITLE Acrokeratosis verruciformis of Hopf is caused by mutation in ATP2A2: evidence that it is allelic to Darier's disease. JOURNAL J Invest Dermatol 120:229-32 (2003) DOI:10.1046/j.1523-1747.2003.t01-1-12045.x REFERENCE PMID:34104969 AUTHORS Nakajima K, Ishiwata M, Weitemier AZ, Shoji H, Monai H, Miyamoto H, Yamakawa K, Miyakawa T, McHugh TJ, Kato T TITLE Brain-specific heterozygous loss-of-function of ATP2A2, endoplasmic reticulum Ca2+ pump responsible for Darier's disease, causes behavioral abnormalities and a hyper-dopaminergic state. JOURNAL Hum Mol Genet 30:1762-1772 (2021) DOI:10.1093/hmg/ddab137 /// ENTRY 4893v1 Variant NAME NRAS mutation GENE NRAS NRAS proto-oncogene, GTPase [KO:K07828] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutation G13V ClinVar: 375876 dbSNP: rs121434596 COSM: 574 VARIATION mutation G13D ClinVar: 13901 dbSNP: rs121434596 COSM: 573 VARIATION mutation Q61R ClinVar: 13900 375873 376220 dbSNP: rs11554290 rs1057519695 rs1057519834 COSM: 584 VARIATION mutation Q61H ClinVar: 375871 373003 dbSNP: rs12193255 rs12193255 VARIATION mutation G12D ClinVar: 39648 dbSNP: rs12193237 COSM:564 VARIATION mutation Q61K ClinVar: 73058 dbSNP: rs121913254 COSM:580 VARIATION mutation Q61L ClinVar: 375872 375874 dbSNP: rs1057519695 rs11554290 VARIATION mutation G12S ClinVar: 177778 dbSNP: rs121913250 COSM: 563 VARIATION mutation G13S ClinVar: 376221 dbSNP: rs121434595 COSM: 571 NETWORK nt06210 ERK signaling nt06214 PI3K signaling nt06260 Colorectal cancer nt06261 Gastric cancer nt06262 Pancreatic cancer nt06266 Non-small cell lung cancer nt06268 Melanoma nt06271 Endometrial cancer nt06274 Thyroid cancer nt06275 Acute myeloid leukemia nt06526 MAPK signaling nt06530 PI3K signaling DISEASE H00003 Acute myeloid leukemia H00014 Non-small cell lung cancer H00018 Gastric cancer H00019 Pancreatic cancer H00020 Colorectal cancer H00026 Endometrial cancer H00032 Thyroid cancer H00038 Melanoma REFERENCE PMID:3103719 AUTHORS Bos JL, Verlaan-de Vries M, van der Eb AJ, Janssen JW, Delwel R, Lowenberg B, Colly LP TITLE Mutations in N-ras predominate in acute myeloid leukemia. JOURNAL Blood 69:1237-41 (1987) REFERENCE PMID:2674680 AUTHORS van 't Veer LJ, Burgering BM, Versteeg R, Boot AJ, Ruiter DJ, Osanto S, Schrier PI, Bos JL TITLE N-ras mutations in human cutaneous melanoma from sun-exposed body sites. JOURNAL Mol Cell Biol 9:3114-6 (1989) DOI:10.1128/MCB.9.7.3114 REFERENCE PMID:14695152 AUTHORS Omholt K, Platz A, Kanter L, Ringborg U, Hansson J. TITLE NRAS and BRAF mutations arise early during melanoma pathogenesis and are preserved throughout tumor progression. JOURNAL Clin Cancer Res 9:6483-8 (2003) REFERENCE PMID:24774510 AUTHORS Takahashi N, Yamada Y, Taniguchi H, Fukahori M, Sasaki Y, Shoji H, Honma Y, Iwasa S, Takashima A, Kato K, Hamaguchi T, Shimada Y TITLE Clinicopathological features and prognostic roles of KRAS, BRAF, PIK3CA and NRAS mutations in advanced gastric cancer. JOURNAL BMC Res Notes 7:271 (2014) DOI:10.1186/1756-0500-7-271 /// ENTRY 4893v2 Variant NAME NRAS mutation GENE NRAS NRAS proto-oncogene, GTPase [KO:K07828] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 164790 NETWORK nt06526 MAPK signaling nt06530 PI3K signaling DISEASE H01738 Noonan syndrome H02541 Juvenile myelomonocytic leukemia H02627 Epidermal nevus REFERENCE PMID:36394128 AUTHORS Tartaglia M, Aoki Y, Gelb BD TITLE The molecular genetics of RASopathies: An update on novel disease genes and new disorders. JOURNAL Am J Med Genet C Semin Med Genet 190:425-439 (2022) DOI:10.1002/ajmg.c.32012 REFERENCE PMID:34175492 AUTHORS Riller Q, Rieux-Laucat F TITLE RASopathies: From germline mutations to somatic and multigenic diseases. JOURNAL Biomed J 44:422-432 (2021) DOI:10.1016/j.bj.2021.06.004 REFERENCE PMID:33796386 AUTHORS Gupta AK, Meena JP, Chopra A, Tanwar P, Seth R TITLE Juvenile myelomonocytic leukemia-A comprehensive review and recent advances in management. JOURNAL Am J Blood Res 11:1-21 (2021) REFERENCE PMID:29044700 AUTHORS Asch S, Sugarman JL TITLE Epidermal nevus syndromes: New insights into whorls and swirls. JOURNAL Pediatr Dermatol 35:21-29 (2018) DOI:10.1111/pde.13273 /// ENTRY 4913v1 Variant NAME NTH mutation GENE NTHL1 nth like DNA glycosylase 1 [KO:K10773] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 602656 NETWORK nt06504 Base excision repair DISEASE H01025 Familial adenomatous polyposis REFERENCE PMID:25938944 AUTHORS Weren RD, Ligtenberg MJ, Kets CM, de Voer RM, Verwiel ET, Spruijt L, van Zelst-Stams WA, Jongmans MC, Gilissen C, Hehir-Kwa JY, Hoischen A, Shendure J, Boyle EA, Kamping EJ, Nagtegaal ID, Tops BB, Nagengast FM, Geurts van Kessel A, van Krieken JH, Kuiper RP, Hoogerbrugge N TITLE A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer. JOURNAL Nat Genet 47:668-71 (2015) DOI:10.1038/ng.3287 /// ENTRY 4914v1 Variant NAME TRK fusion GENE NTRK1 neurotrophic receptor tyrosine kinase 1 [KO:K03176] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION TPM3-NTRK1 fusion caused by inversion inv(1)(q21-22q22-23) COSF: 1330 1320 1319 VARIATION TPR-NTRK1 fusion caused by inversion inv(1)(q21-22q25) NETWORK nt06210 ERK signaling nt06274 Thyroid cancer DISEASE H00032 Thyroid cancer DRUG_TARGET Entrectinib: D10926 REFERENCE PMID:16557281 AUTHORS Kondo T, Ezzat S, Asa SL. TITLE Pathogenetic mechanisms in thyroid follicular-cell neoplasia. JOURNAL Nat Rev Cancer 6:292-306 (2006) DOI:10.1038/nrc1836 REFERENCE PMID:12652644 AUTHORS Alberti L, Carniti C, Miranda C, Roccato E, Pierotti MA TITLE RET and NTRK1 proto-oncogenes in human diseases. JOURNAL J Cell Physiol 195:168-86 (2003) DOI:10.1002/jcp.10252 /// ENTRY 4915v1 Variant NAME NTRK2 mutation GENE NTRK2 neurotrophic receptor tyrosine kinase 2 [KO:K04360] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 600456 NETWORK nt06528 Calcium signaling DISEASE H00606 Early infantile epileptic encephalopathy REFERENCE PMID:29100083 AUTHORS Hamdan FF, Myers CT, Cossette P, Lemay P, Spiegelman D, Laporte AD, Nassif C, Diallo O, Monlong J, Cadieux-Dion M, Dobrzeniecka S, Meloche C, Retterer K, Cho MT, Rosenfeld JA, Bi W, Massicotte C, Miguet M, Brunga L, Regan BM, Mo K, Tam C, Schneider A, Hollingsworth G, FitzPatrick DR, Donaldson A, Canham N, Blair E, Kerr B, Fry AE, Thomas RH, Shelagh J, Hurst JA, Brittain H, Blyth M, Lebel RR, Gerkes EH, Davis-Keppen L, Stein Q, Chung WK, Dorison SJ, Benke PJ, Fassi E, Corsten-Janssen N, Kamsteeg EJ, Mau-Them FT, Bruel AL, Verloes A, Ounap K, Wojcik MH, Albert DVF, Venkateswaran S, Ware T, Jones D, Liu YC, Mohammad SS, Bizargity P, Bacino CA, Leuzzi V, Martinelli S, Dallapiccola B, Tartaglia M, Blumkin L, Wierenga KJ, Purcarin G, O'Byrne JJ, Stockler S, Lehman A, Keren B, Nougues MC, Mignot C, Auvin S, Nava C, Hiatt SM, Bebin M, Shao Y, Scaglia F, Lalani SR, Frye RE, Jarjour IT, Jacques S, Boucher RM, Riou E, Srour M, Carmant L, Lortie A, Major P, Diadori P, Dubeau F, D'Anjou G, Bourque G, Berkovic SF, Sadleir LG, Campeau PM, Kibar Z, Lafreniere RG, Girard SL, Mercimek-Mahmutoglu S, Boelman C, Rouleau GA, Scheffer IE, Mefford HC, Andrade DM, Rossignol E, Minassian BA, Michaud JL TITLE High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. JOURNAL Am J Hum Genet 101:664-685 (2017) DOI:10.1016/j.ajhg.2017.09.008 /// ENTRY 491v1 Variant NAME ATP2B2 mutation GENE ATP2B2 ATPase plasma membrane Ca2+ transporting 2 [KO:K05850] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 108733 NETWORK nt06528 Calcium signaling DISEASE H00604 Deafness, autosomal dominant H00605 Deafness, autosomal recessive REFERENCE PMID:30535804 AUTHORS Smits JJ, Oostrik J, Beynon AJ, Kant SG, de Koning Gans PAM, Rotteveel LJC, Klein Wassink-Ruiter JS, Free RH, Maas SM, van de Kamp J, Merkus P, Koole W, Feenstra I, Admiraal RJC, Lanting CP, Schraders M, Yntema HG, Pennings RJE, Kremer H TITLE De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment. JOURNAL Hum Genet 138:61-72 (2019) DOI:10.1007/s00439-018-1965-1 REFERENCE PMID:15829536 AUTHORS Schultz JM, Yang Y, Caride AJ, Filoteo AG, Penheiter AR, Lagziel A, Morell RJ, Mohiddin SA, Fananapazir L, Madeo AC, Penniston JT, Griffith AJ TITLE Modification of human hearing loss by plasma-membrane calcium pump PMCA2. JOURNAL N Engl J Med 352:1557-64 (2005) DOI:10.1056/NEJMoa043899 /// ENTRY 4920v1 Variant NAME ROR2 mutation GENE ROR2 receptor tyrosine kinase like orphan receptor 2 [KO:K05123] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 602337 NETWORK nt06505 WNT signaling DISEASE H00482 Brachydactyly H00485 Robinow syndrome REFERENCE PMID:29465811 AUTHORS Curto J, Del Valle-Perez B, Villarroel A, Fuertes G, Vinyoles M, Pena R, Garcia de Herreros A, Dunach M TITLE CK1epsilon and p120-catenin control Ror2 function in noncanonical Wnt signaling. JOURNAL Mol Oncol 12:611-629 (2018) DOI:10.1002/1878-0261.12184 REFERENCE PMID:20962035 AUTHORS Wang B, Sinha T, Jiao K, Serra R, Wang J TITLE Disruption of PCP signaling causes limb morphogenesis and skeletal defects and may underlie Robinow syndrome and brachydactyly type B. JOURNAL Hum Mol Genet 20:271-85 (2011) DOI:10.1093/hmg/ddq462 /// ENTRY 492v1 Variant NAME ATP2B3 mutation GENE ATP2B3 ATPase plasma membrane Ca2+ transporting 3 [KO:K05850] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutation L425_V426del ClinVar: 162469 dbSNP: rs724160011 VARIATION mutation V426_V427del ClinVar: 162470 dbSNP: rs724160012 NETWORK nt06316 Renin-angiotensin-aldosterone signaling nt06528 Calcium signaling DISEASE H00063 Spinocerebellar ataxia (SCA) H01603 Primary aldosteronism REFERENCE PMID:23416519 AUTHORS Beuschlein F, Boulkroun S, Osswald A, Wieland T, Nielsen HN, Lichtenauer UD, Penton D, Schack VR, Amar L, Fischer E, Walther A, Tauber P, Schwarzmayr T, Diener S, Graf E, Allolio B, Samson-Couterie B, Benecke A, Quinkler M, Fallo F, Plouin PF, Mantero F, Meitinger T, Mulatero P, Jeunemaitre X, Warth R, Vilsen B, Zennaro MC, Strom TM, Reincke M TITLE Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension. JOURNAL Nat Genet 45:440-4, 444e1-2 (2013) DOI:10.1038/ng.2550 /// ENTRY 493753v1 Variant NAME COA5 mutation GENE COA5 cytochrome c oxidase assembly factor 5 [KO:K18178] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 613920 REFERENCE PMID:21457908 AUTHORS Huigsloot M, Nijtmans LG, Szklarczyk R, Baars MJ, van den Brand MA, Hendriksfranssen MG, van den Heuvel LP, Smeitink JA, Huynen MA, Rodenburg RJ TITLE A mutation in C2orf64 causes impaired cytochrome c oxidase assembly and mitochondrial cardiomyopathy. JOURNAL Am J Hum Genet 88:488-93 (2011) DOI:10.1016/j.ajhg.2011.03.002 /// ENTRY 4942v1 Variant NAME OAT deficiency GENE OAT ornithine aminotransferase [KO:K00819] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 613349 NETWORK nt06033 Glycine, serine and arginine metabolism DISEASE H00189 Ornithinaemia REFERENCE PMID:24429551 AUTHORS Katagiri S, Gekka T, Hayashi T, Ida H, Ohashi T, Eto Y, Tsuneoka H TITLE OAT mutations and clinical features in two Japanese brothers with gyrate atrophy of the choroid and retina. JOURNAL Doc Ophthalmol 128:137-48 (2014) DOI:10.1007/s10633-014-9426-1 /// ENTRY 4967v1 Variant NAME OGDH deficiency GENE OGDH oxoglutarate dehydrogenase [KO:K00164] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 613022 NETWORK nt06031 Citrate cycle and pyruvate metabolism DISEASE H02006 Alpha-ketoglutarate dehydrogenase complex deficiency REFERENCE PMID:32383294 AUTHORS Yap ZY, Strucinska K, Matsuzaki S, Lee S, Si Y, Humphries K, Tarnopolsky MA, Yoon WH TITLE A biallelic pathogenic variant in the OGDH gene results in a neurological disorder with features of a mitochondrial disease. JOURNAL J Inherit Metab Dis 44:388-400 (2021) DOI:10.1002/jimd.12248 /// ENTRY 4968v1 Variant NAME OGG1 mutation GENE OGG1 8-oxoguanine DNA glycosylase [KO:K03660] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 601982 NETWORK nt06504 Base excision repair DISEASE H00021 Renal cell carcinoma REFERENCE PMID:10987279 AUTHORS Audebert M, Chevillard S, Levalois C, Gyapay G, Vieillefond A, Klijanienko J, Vielh P, El Naggar AK, Oudard S, Boiteux S, Radicella JP TITLE Alterations of the DNA repair gene OGG1 in human clear cell carcinomas of the kidney. JOURNAL Cancer Res 60:4740-4 (2000) /// ENTRY 498v1 Variant NAME ATP5F1A mutation GENE ATP5F1A ATP synthase F1 subunit alpha [KO:K02132] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 164360 NETWORK nt06529 Thermogenesis DISEASE H01369 ATP synthase deficiency REFERENCE PMID:23599390 AUTHORS Jonckheere AI, Renkema GH, Bras M, van den Heuvel LP, Hoischen A, Gilissen C, Nabuurs SB, Huynen MA, de Vries MC, Smeitink JA, Rodenburg RJ TITLE A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy. JOURNAL Brain 136:1544-54 (2013) DOI:10.1093/brain/awt086 /// ENTRY 4998v1 Variant NAME ORC1 mutation GENE ORC1 origin recognition complex subunit 1 [KO:K02603] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 601902 NETWORK nt06509 DNA replication DISEASE H01889 Meier-Gorlin syndrome REFERENCE PMID:21358633 AUTHORS Bicknell LS, Walker S, Klingseisen A, Stiff T, Leitch A, Kerzendorfer C, Martin CA, Yeyati P, Al Sanna N, Bober M, Johnson D, Wise C, Jackson AP, O'Driscoll M, Jeggo PA TITLE Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome. JOURNAL Nat Genet 43:350-5 (2011) DOI:10.1038/ng.776 /// ENTRY 5000v1 Variant NAME ORC4 mutation GENE ORC4 origin recognition complex subunit 4 [KO:K02606] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 603056 NETWORK nt06509 DNA replication DISEASE H01889 Meier-Gorlin syndrome REFERENCE PMID:21358631 AUTHORS Guernsey DL, Matsuoka M, Jiang H, Evans S, Macgillivray C, Nightingale M, Perry S, Ferguson M, LeBlanc M, Paquette J, Patry L, Rideout AL, Thomas A, Orr A, McMaster CR, Michaud JL, Deal C, Langlois S, Superneau DW, Parkash S, Ludman M, Skidmore DL, Samuels ME TITLE Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome. JOURNAL Nat Genet 43:360-4 (2011) DOI:10.1038/ng.777 /// ENTRY 5009v1 Variant NAME OTC deficiency GENE OTC ornithine transcarbamylase [KO:K00611] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 300461 NETWORK nt06010 Urea cycle DISEASE H00187 Ornithine transcarbamylase deficiency REFERENCE PMID:17044854 AUTHORS Azevedo L, Soares PA, Quental R, Vilarinho L, Teles EL, Martins E, Diogo L, Garcia P, Cenni B, Wermuth B, Amorim A TITLE Mutational spectrum and linkage disequilibrium patterns at the ornithine transcarbamylase gene (OTC). JOURNAL Ann Hum Genet 70:797-801 (2006) DOI:10.1111/j.1469-1809.2006.00283.x /// ENTRY 501v1 Variant NAME ALDH7A1 deficiency GENE ALDH7A1 aldehyde dehydrogenase 7 family member A1 [KO:K14085] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 107323 NETWORK nt06036 Lysine degradation DISEASE H01247 Pyridoxine-dependent epilepsy REFERENCE PMID:16491085 AUTHORS Mills PB, Struys E, Jakobs C, Plecko B, Baxter P, Baumgartner M, Willemsen MA, Omran H, Tacke U, Uhlenberg B, Weschke B, Clayton PT TITLE Mutations in antiquitin in individuals with pyridoxine-dependent seizures. JOURNAL Nat Med 12:307-9 (2006) DOI:10.1038/nm1366 /// ENTRY 5048v1 Variant NAME PAFAH1B1 mutation GENE PAFAH1B1 platelet activating factor acetylhydrolase 1b regulatory subunit 1 [KO:K16794] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 601545 NETWORK nt06515 Regulation of kinetochore-microtubule interactions DISEASE H00268 Lissencephaly REFERENCE PMID:9063735 AUTHORS Lo Nigro C, Chong CS, Smith AC, Dobyns WB, Carrozzo R, Ledbetter DH TITLE Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome. JOURNAL Hum Mol Genet 6:157-64 (1997) DOI:10.1093/hmg/6.2.157 /// ENTRY 50506v1 Variant NAME DUOX2 mutation GENE DUOX2 dual oxidase 2 [KO:K13411] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 606759 NETWORK nt06322 TRH-TSH-TH signaling DISEASE H00251 Thyroid dyshormonogenesis REFERENCE PMID:27821020 AUTHORS Srichomkwun P, Takamatsu J, Nickerson DA, Bamshad MJ, Chong JX, Refetoff S TITLE DUOX2 Gene Mutation Manifesting as Resistance to Thyrotropin Phenotype. JOURNAL Thyroid 27:129-131 (2017) DOI:10.1089/thy.2016.0469 REFERENCE PMID:18765513 AUTHORS Maruo Y, Takahashi H, Soeda I, Nishikura N, Matsui K, Ota Y, Mimura Y, Mori A, Sato H, Takeuchi Y TITLE Transient congenital hypothyroidism caused by biallelic mutations of the dual oxidase 2 gene in Japanese patients detected by a neonatal screening program. JOURNAL J Clin Endocrinol Metab 93:4261-7 (2008) DOI:10.1210/jc.2008-0856 REFERENCE PMID:12110737 AUTHORS Moreno JC, Bikker H, Kempers MJ, van Trotsenburg AS, Baas F, de Vijlder JJ, Vulsma T, Ris-Stalpers C TITLE Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism. JOURNAL N Engl J Med 347:95-102 (2002) DOI:10.1056/NEJMoa012752 REFERENCE PMID:30324792 AUTHORS Peters C, van Trotsenburg ASP, Schoenmakers N TITLE DIAGNOSIS OF ENDOCRINE DISEASE: Congenital hypothyroidism: update and perspectives JOURNAL Eur J Endocrinol 179:R297-R317 (2018) DOI:10.1530/EJE-18-0383 REFERENCE PMID:15611820 AUTHORS Vono-Toniolo J, Kopp P TITLE Thyroglobulin gene mutations and other genetic defects associated with congenital hypothyroidism. JOURNAL Arq Bras Endocrinol Metabol 48:70-82 (2004) DOI:10.1590/S0004-27302004000100009 REFERENCE PMID:28648508 AUTHORS Targovnik HM, Citterio CE, Rivolta CM TITLE Iodide handling disorders (NIS, TPO, TG, IYD). JOURNAL Best Pract Res Clin Endocrinol Metab 31:195-212 (2017) DOI:10.1016/j.beem.2017.03.006 /// ENTRY 5053v1 Variant NAME PAH deficiency GENE PAH phenylalanine hydroxylase [KO:K00500] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 612349 NETWORK nt06016 Phenylalanine and tyrosine metabolism DISEASE H00167 Phenylketonuria DRUG_TARGET Pegvaliase: D11077 REFERENCE PMID:25596310 AUTHORS Danecka MK, Woidy M, Zschocke J, Feillet F, Muntau AC, Gersting SW TITLE Mapping the functional landscape of frequent phenylalanine hydroxylase (PAH) genotypes promotes personalised medicine in phenylketonuria. JOURNAL J Med Genet 52:175-85 (2015) DOI:10.1136/jmedgenet-2014-102621 /// ENTRY 5054v1 Variant NAME SERPINE1 mutation GENE SERPINE1 serpin family E member 1 [KO:K03982] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 173360 NETWORK nt06514 Coagulation cascade DISEASE H01106 Plasminogen activator inhibitor type 1 deficiency REFERENCE PMID:19141166 AUTHORS Mehta R, Shapiro AD TITLE Plasminogen activator inhibitor type 1 deficiency. JOURNAL Haemophilia 14:1255-60 (2008) DOI:10.1111/j.1365-2516.2008.01834.x /// ENTRY 5071v1 Variant NAME PRKN mutation GENE PRKN parkin RBR E3 ubiquitin protein ligase [KO:K04556] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 602544 NETWORK nt06028 Dopamine and serotonin metabolism nt06463 Parkinson disease nt06466 Pathways of neurodegeneration DISEASE H00057 Parkinson disease REFERENCE PMID:27177722 AUTHORS Chen H, Huang X, Yuan L, Xia H, Xu H, Yang Y, Zheng W, Deng H TITLE A homozygous parkin p.G284R mutation in a Chinese family with autosomal recessive juvenile parkinsonism. JOURNAL Neurosci Lett 624:100-4 (2016) DOI:10.1016/j.neulet.2016.05.011 REFERENCE PMID:10939576 AUTHORS Maruyama M, Ikeuchi T, Saito M, Ishikawa A, Yuasa T, Tanaka H, Hayashi S, Wakabayashi K, Takahashi H, Tsuji S TITLE Novel mutations, pseudo-dominant inheritance, and possible familial affects in patients with autosomal recessive juvenile parkinsonism. JOURNAL Ann Neurol 48:245-50 (2000) DOI:10.1002/1531-8249(200008)48:2<245::AID-ANA15>3.0.CO;2-2 REFERENCE PMID:9731209 AUTHORS Hattori N, Matsumine H, Asakawa S, Kitada T, Yoshino H, Elibol B, Brookes AJ, Yamamura Y, Kobayashi T, Wang M, Yoritaka A, Minoshima S, Shimizu N, Mizuno Y TITLE Point mutations (Thr240Arg and Gln311Stop) [correction of Thr240Arg and Ala311Stop] in the Parkin gene. JOURNAL Biochem Biophys Res Commun 249:754-8 (1998) DOI:10.1006/bbrc.1998.9134 REFERENCE PMID:16049031 AUTHORS Sriram SR, Li X, Ko HS, Chung KK, Wong E, Lim KL, Dawson VL, Dawson TM TITLE Familial-associated mutations differentially disrupt the solubility, localization, binding and ubiquitination properties of parkin. JOURNAL Hum Mol Genet 14:2571-86 (2005) DOI:10.1093/hmg/ddi292 /// ENTRY 5073v1 Variant NAME PARN mutation GENE PARN poly(A)-specific ribonuclease [KO:K01148] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 604212 NETWORK nt06510 Telomere length regulation DISEASE H00507 Dyskeratosis congenita H02569 Pulmonary fibrosis and/or bone marrow failure, telomere-related REFERENCE PMID:26482878 AUTHORS Moon DH, Segal M, Boyraz B, Guinan E, Hofmann I, Cahan P, Tai AK, Agarwal S TITLE Poly(A)-specific ribonuclease (PARN) mediates 3'-end maturation of the telomerase RNA component. JOURNAL Nat Genet 47:1482-8 (2015) DOI:10.1038/ng.3423 /// ENTRY 5077v1 Variant NAME PAX3-FOXO1 fusion GENE PAX3 paired box 3 [KO:K09381] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION translocation t(2;13)(q35;q14) COSF: 248 343 REFERENCE PMID:12951587 AUTHORS Helman LJ, Meltzer P. TITLE Mechanisms of sarcoma development. JOURNAL Nat Rev Cancer 3:685-94 (2003) DOI:10.1038/nrc1168 REFERENCE PMID:19734027 AUTHORS Thway K TITLE Pathology of soft tissue sarcomas. JOURNAL Clin Oncol (R Coll Radiol) 21:695-705 (2009) DOI:10.1016/j.clon.2009.07.016 /// ENTRY 50814v1 Variant NAME NSDHL deficiency GENE NSDHL NAD(P) dependent steroid dehydrogenase-like [KO:K07748] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 300275 NETWORK nt06034 Cholesterol biosynthesis DISEASE H00496 Congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) H01917 CK syndrome REFERENCE PMID:10710235 AUTHORS Konig A, Happle R, Bornholdt D, Engel H, Grzeschik KH TITLE Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome. JOURNAL Am J Med Genet 90:339-46 (2000) DOI:10.1002/(SICI)1096-8628(20000214)90:4<339::AID-AJMG15>3.0.CO;2-5 REFERENCE PMID:21129721 AUTHORS McLarren KW, Severson TM, du Souich C, Stockton DW, Kratz LE, Cunningham D, Hendson G, Morin RD, Wu D, Paul JE, An J, Nelson TN, Chou A, DeBarber AE, Merkens LS, Michaud JL, Waters PJ, Yin J, McGillivray B, Demos M, Rouleau GA, Grzeschik KH, Smith R, Tarpey PS, Shears D, Schwartz CE, Gecz J, Stratton MR, Arbour L, Hurlburt J, Van Allen MI, Herman GE, Zhao Y, Moore R, Kelley RI, Jones SJ, Steiner RD, Raymond FL, Marra MA, Boerkoel CF TITLE Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome. JOURNAL Am J Hum Genet 87:905-14 (2010) DOI:10.1016/j.ajhg.2010.11.004 /// ENTRY 5087v1 Variant NAME E2A-PBX1 fusion GENE PBX1 PBX homeobox 1 [KO:K09355] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION translocation t(1;19)(q23;p13) COSF: 1490 2124 2130 NETWORK nt06240 Transcription DISEASE H00001 B-cell acute lymphoblastic leukemia REFERENCE PMID:27088431 AUTHORS Sera Y, Yamasaki N, Oda H, Nagamachi A, Wolff L, Inukai T, Inaba T, Honda H TITLE Identification of cooperative genes for E2A-PBX1 to develop acute lymphoblastic leukemia. JOURNAL Cancer Sci 107:890-8 (2016) DOI:10.1111/cas.12945 /// ENTRY 5091v1 Variant NAME PC deficiency GENE PC pyruvate carboxylase [KO:K01958] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 608786 NETWORK nt06031 Citrate cycle and pyruvate metabolism DISEASE H00073 Pyruvate carboxylase deficiency REFERENCE PMID:9585612 AUTHORS Carbone MA, MacKay N, Ling M, Cole DE, Douglas C, Rigat B, Feigenbaum A, Clarke JT, Haworth JC, Greenberg CR, Seargeant L, Robinson BH TITLE Amerindian pyruvate carboxylase deficiency is associated with two distinct missense mutations. JOURNAL Am J Hum Genet 62:1312-9 (1998) DOI:10.1086/301884 /// ENTRY 5092v1 Variant NAME PCBD1 deficiency GENE PCBD1 pterin-4 alpha-carbinolamine dehydratase 1 [KO:K01724] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 126090 NETWORK nt06016 Phenylalanine and tyrosine metabolism DISEASE H00167 Phenylketonuria REFERENCE PMID:9585615 AUTHORS Thony B, Neuheiser F, Kierat L, Blaskovics M, Arn PH, Ferreira P, Rebrin I, Ayling J, Blau N TITLE Hyperphenylalaninemia with high levels of 7-biopterin is associated with mutations in the PCBD gene encoding the bifunctional protein pterin-4a-carbinolamine dehydratase and transcriptional coactivator (DCoH). JOURNAL Am J Hum Genet 62:1302-11 (1998) DOI:10.1086/301887 /// ENTRY 50937v1 Variant NAME CDON mutation GENE CDON cell adhesion associated, oncogene regulated [KO:K20033] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 608707 NETWORK nt06501 HH signaling DISEASE H00267 Holoprosencephaly REFERENCE PMID:31781166 AUTHORS Sasai N, Toriyama M, Kondo T TITLE Hedgehog Signal and Genetic Disorders. JOURNAL Front Genet 10:1103 (2019) DOI:10.3389/fgene.2019.01103 /// ENTRY 50940v1 Variant NAME PDE11A GENE PDE11A phosphodiesterase 11A [KO:K13298] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutation R307Ter ClinVar: 5286 dbSNP: rs76308115 VARIATION mutation S313Qfs ClinVar: 225431 dbSNP: rs769235876 VARIATION mutation S160Ter ClinVar: 225433 dbSNP: rs771254675 VARIATION mutation S79Ter ClinVar: 225434 dbSNP: rs188985665 VARIATION mutation R7Tfs ClinVar: 225432 dbSNP: rs202117698 NETWORK nt06310 CRH-ACTH-cortisol signaling nt06360 Cushing syndrome DISEASE H00260 Pigmented micronodular adrenocortical disease H01431 Cushing syndrome H02049 Bilateral macronodular adrenal hyperplasia REFERENCE PMID:16767104 AUTHORS Horvath A, Boikos S, Giatzakis C, Robinson-White A, Groussin L, Griffin KJ, Stein E, Levine E, Delimpasi G, Hsiao HP, Keil M, Heyerdahl S, Matyakhina L, Libe R, Fratticci A, Kirschner LS, Cramer K, Gaillard RC, Bertagna X, Carney JA, Bertherat J, Bossis I, Stratakis CA TITLE A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia. JOURNAL Nat Genet 38:794-800 (2006) DOI:10.1038/ng1809 /// ENTRY 5095v1 Variant NAME PCCA deficiency GENE PCCA propionyl-CoA carboxylase subunit alpha [KO:K01965] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 232000 NETWORK nt06024 Valine, leucine and isoleucine degradation DISEASE H00175 Propionic acidemia REFERENCE PMID:17051315 AUTHORS Desviat LR, Clavero S, Perez-Cerda C, Navarrete R, Ugarte M, Perez B TITLE New splicing mutations in propionic acidemia. JOURNAL J Hum Genet 51:992-7 (2006) DOI:10.1007/s10038-006-0068-3 /// ENTRY 50964v1 Variant NAME SOST mutation GENE SOST sclerostin [KO:K16834] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 605740 NETWORK nt06505 WNT signaling DISEASE H00486 Sclerosteosis H02609 Craniodiaphyseal dysplasia REFERENCE PMID:35160258 AUTHORS Vasiliadis ES, Evangelopoulos DS, Kaspiris A, Benetos IS, Vlachos C, Pneumaticos SG TITLE The Role of Sclerostin in Bone Diseases. JOURNAL J Clin Med 11:806 (2022) DOI:10.3390/jcm11030806 REFERENCE PMID:32328030 AUTHORS Huybrechts Y, Mortier G, Boudin E, Van Hul W TITLE WNT Signaling and Bone: Lessons From Skeletal Dysplasias and Disorders. JOURNAL Front Endocrinol (Lausanne) 11:165 (2020) DOI:10.3389/fendo.2020.00165 /// ENTRY 5096v1 Variant NAME PCCB deficiency GENE PCCB propionyl-CoA carboxylase subunit beta [KO:K01966] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 232050 NETWORK nt06024 Valine, leucine and isoleucine degradation DISEASE H00175 Propionic acidemia REFERENCE PMID:17051315 AUTHORS Desviat LR, Clavero S, Perez-Cerda C, Navarrete R, Ugarte M, Perez B TITLE New splicing mutations in propionic acidemia. JOURNAL J Hum Genet 51:992-7 (2006) DOI:10.1007/s10038-006-0068-3 /// ENTRY 50v1 Variant NAME ACO2 mutation GENE ACO2 aconitase 2 [KO:K01681] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 100850 NETWORK nt06031 Citrate cycle and pyruvate metabolism DISEASE H02113 Infantile cerebellar-retinal degeneration REFERENCE PMID:25351951 AUTHORS Metodiev MD, Gerber S, Hubert L, Delahodde A, Chretien D, Gerard X, Amati-Bonneau P, Giacomotto MC, Boddaert N, Kaminska A, Desguerre I, Amiel J, Rio M, Kaplan J, Munnich A, Rotig A, Rozet JM, Besmond C TITLE Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy. JOURNAL J Med Genet 51:834-8 (2014) DOI:10.1136/jmedgenet-2014-102532 /// ENTRY 51053v1 Variant NAME GMNN mutation GENE GMNN geminin DNA replication inhibitor [KO:K10749] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 602842 NETWORK nt06509 DNA replication DISEASE H01889 Meier-Gorlin syndrome REFERENCE PMID:26637980 AUTHORS Burrage LC, Charng WL, Eldomery MK, Willer JR, Davis EE, Lugtenberg D, Zhu W, Leduc MS, Akdemir ZC, Azamian M, Zapata G, Hernandez PP, Schoots J, de Munnik SA, Roepman R, Pearring JN, Jhangiani S, Katsanis N, Vissers LE, Brunner HG, Beaudet AL, Rosenfeld JA, Muzny DM, Gibbs RA, Eng CM, Xia F, Lalani SR, Lupski JR, Bongers EM, Yang Y TITLE De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. JOURNAL Am J Hum Genet 97:904-13 (2015) DOI:10.1016/j.ajhg.2015.11.006 /// ENTRY 5105v1 Variant NAME PCK1 deficiency GENE PCK1 phosphoenolpyruvate carboxykinase 1 [KO:K01596] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 614168 NETWORK nt06031 Citrate cycle and pyruvate metabolism DISEASE H02520 Phosphoenolpyruvate carboxykinase deficiency REFERENCE PMID:24863970 AUTHORS Adams DR, Yuan H, Holyoak T, Arajs KH, Hakimi P, Markello TC, Wolfe LA, Vilboux T, Burton BK, Fajardo KF, Grahame G, Holloman C, Sincan M, Smith AC, Wells GA, Huang Y, Vega H, Snyder JP, Golas GA, Tifft CJ, Boerkoel CF, Hanson RW, Traynelis SF, Kerr DS, Gahl WA TITLE Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith-Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity. JOURNAL Mol Genet Metab 113:161-70 (2014) DOI:10.1016/j.ymgme.2014.04.001 /// ENTRY 51079v1 Variant NAME NDUFA13 mutation GENE NDUFA13 NADH:ubiquinone oxidoreductase subunit A13 [KO:K11353] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 609435 NETWORK nt06529 Thermogenesis DISEASE H00473 Mitochondrial complex I deficiency REFERENCE PMID:25901006 AUTHORS Angebault C, Charif M, Guegen N, Piro-Megy C, Mousson de Camaret B, Procaccio V, Guichet PO, Hebrard M, Manes G, Leboucq N, Rivier F, Hamel CP, Lenaers G, Roubertie A TITLE Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability. JOURNAL Hum Mol Genet 24:3948-55 (2015) DOI:10.1093/hmg/ddv133 /// ENTRY 51103v1 Variant NAME NDUFAF1 mutation GENE NDUFAF1 NADH:ubiquinone oxidoreductase complex assembly factor 1 [KO:K18159] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 606934 NETWORK nt06529 Thermogenesis DISEASE H00473 Mitochondrial complex I deficiency REFERENCE PMID:21931170 AUTHORS Fassone E, Taanman JW, Hargreaves IP, Sebire NJ, Cleary MA, Burch M, Rahman S TITLE Mutations in the mitochondrial complex I assembly factor NDUFAF1 cause fatal infantile hypertrophic cardiomyopathy. JOURNAL J Med Genet 48:691-7 (2011) DOI:10.1136/jmedgenet-2011-100340 /// ENTRY 5111v1 Variant NAME PCNA mutation GENE PCNA proliferating cell nuclear antigen [KO:K04802] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 176740 NETWORK nt06502 Nucleotide excision repair nt06506 Double-strand break repair nt06509 DNA replication DISEASE H02014 Ataxia-telangiectasia-like syndrome REFERENCE PMID:24911150 AUTHORS Baple EL, Chambers H, Cross HE, Fawcett H, Nakazawa Y, Chioza BA, Harlalka GV, Mansour S, Sreekantan-Nair A, Patton MA, Muggenthaler M, Rich P, Wagner K, Coblentz R, Stein CK, Last JI, Taylor AM, Jackson AP, Ogi T, Lehmann AR, Green CM, Crosby AH TITLE Hypomorphic PCNA mutation underlies a human DNA repair disorder. JOURNAL J Clin Invest 124:3137-46 (2014) DOI:10.1172/JCI74593 REFERENCE PMID:31114918 AUTHORS Paul Solomon Devakumar LJ, Gaubitz C, Lundblad V, Kelch BA, Kubota T TITLE Effective mismatch repair depends on timely control of PCNA retention on DNA by the Elg1 complex. JOURNAL Nucleic Acids Res 47:6826-6841 (2019) DOI:10.1093/nar/gkz441 /// ENTRY 51135v1 Variant NAME IRAK4 mutation GENE IRAK4 interleukin 1 receptor associated kinase 4 [KO:K04733] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 607676 NETWORK nt06517 TLR signaling DISEASE H00096 Defects of toll-like receptor signaling REFERENCE PMID:19414794 AUTHORS Singh A, Zarember KA, Kuhns DB, Gallin JI TITLE Impaired priming and activation of the neutrophil NADPH oxidase in patients with IRAK4 or NEMO deficiency. JOURNAL J Immunol 182:6410-7 (2009) DOI:10.4049/jimmunol.0802512 /// ENTRY 51227v1 Variant NAME PIGP deficiency GENE PIGP phosphatidylinositol glycan anchor biosynthesis class P [KO:K03861] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 605938 NETWORK nt06018 GPI-anchor biosynthesis DISEASE H01489 Inherited glycosylphosphatidylinositol deficiencies REFERENCE PMID:28334793 AUTHORS Johnstone DL, Nguyen TT, Murakami Y, Kernohan KD, Tetreault M, Goldsmith C, Doja A, Wagner JD, Huang L, Hartley T, St-Denis A, le Deist F, Majewski J, Bulman DE, Kinoshita T, Dyment DA, Boycott KM, Campeau PM TITLE Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy. JOURNAL Hum Mol Genet 26:1706-1715 (2017) DOI:10.1093/hmg/ddx077 /// ENTRY 51241v1 Variant NAME COX16 mutation GENE COX16 cytochrome c oxidase assembly factor COX16 [KO:K18182] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 618064 NETWORK nt06529 Thermogenesis DISEASE H01368 Cytochrome c oxidase (COX) deficiency REFERENCE PMID:33169484 AUTHORS Wintjes LTM, Kava M, van den Brandt FA, van den Brand MAM, Lapina O, Bliksrud YT, Kulseth MA, Amundsen SS, Selberg TR, Ybema-Antoine M, Tutakhel OAZ, Greed L, Thorburn DR, Tangeraas T, Balasubramaniam S, Rodenburg RJT TITLE A novel variant in COX16 causes cytochrome c oxidase deficiency, severe fatal neonatal lactic acidosis, encephalopathy, cardiomyopathy, and liver dysfunction. JOURNAL Hum Mutat 42:135-141 (2021) DOI:10.1002/humu.24137 /// ENTRY 51256v1 Variant NAME TBC1D7 mutation GENE TBC1D7 TBC1 domain family member 7 [KO:K20396] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 612655 NETWORK nt06522 mTOR signaling DISEASE H02446 Autosomal recessive macrocephaly/megalencephaly syndrome REFERENCE PMID:23687350 AUTHORS Capo-Chichi JM, Tcherkezian J, Hamdan FF, Decarie JC, Dobrzeniecka S, Patry L, Nadon MA, Mucha BE, Major P, Shevell M, Bencheikh BO, Joober R, Samuels ME, Rouleau GA, Roux PP, Michaud JL TITLE Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephaly. JOURNAL J Med Genet 50:740-4 (2013) DOI:10.1136/jmedgenet-2013-101680 /// ENTRY 51284v1 Variant NAME TLR7 mutation GENE TLR7 toll like receptor 7 [KO:K05404] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 300365 NETWORK nt06517 TLR signaling DISEASE H00080 Systemic lupus erythematosus H00096 Defects of toll-like receptor signaling REFERENCE PMID:35708626 AUTHORS Zhang Q, Matuozzo D, Le Pen J, Lee D, Moens L, Asano T, Bohlen J, Liu Z, Moncada-Velez M, Kendir-Demirkol Y, Jing H, Bizien L, Marchal A, Abolhassani H, Delafontaine S, Bucciol G, Bayhan GI, Keles S, Kiykim A, Hancerli S, Haerynck F, Florkin B, Hatipoglu N, Ozcelik T, Morelle G, Zatz M, Ng LFP, Lye DC, Young BE, Leo YS, Dalgard CL, Lifton RP, Renia L, Meyts I, Jouanguy E, Hammarstrom L, Pan-Hammarstrom Q, Boisson B, Bastard P, Su HC, Boisson-Dupuis S, Abel L, Rice CM, Zhang SY, Cobat A, Casanova JL TITLE Recessive inborn errors of type I IFN immunity in children with COVID-19 pneumonia. JOURNAL J Exp Med 219:e20220131 (2022) DOI:10.1084/jem.20220131 REFERENCE PMID:35477763 AUTHORS Brown GJ, Canete PF, Wang H, Medhavy A, Bones J, Roco JA, He Y, Qin Y, Cappello J, Ellyard JI, Bassett K, Shen Q, Burgio G, Zhang Y, Turnbull C, Meng X, Wu P, Cho E, Miosge LA, Andrews TD, Field MA, Tvorogov D, Lopez AF, Babon JJ, Lopez CA, Gonzalez-Murillo A, Garulo DC, Pascual V, Levy T, Mallack EJ, Calame DG, Lotze T, Lupski JR, Ding H, Ullah TR, Walters GD, Koina ME, Cook MC, Shen N, de Lucas Collantes C, Corry B, Gantier MP, Athanasopoulos V, Vinuesa CG TITLE TLR7 gain-of-function genetic variation causes human lupus. JOURNAL Nature 605:349-356 (2022) DOI:10.1038/s41586-022-04642-z REFERENCE PMID:34817709 AUTHORS Satterthwaite AB TITLE TLR7 Signaling in Lupus B Cells: New Insights into Synergizing Factors and Downstream Signals. JOURNAL Curr Rheumatol Rep 23:80 (2021) DOI:10.1007/s11926-021-01047-1 /// ENTRY 5133v1 Variant NAME PDCD1 mutation GENE PDCD1 programmed cell death 1 [KO:K06744] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 600244 NETWORK nt06530 PI3K signaling DISEASE H00080 Systemic lupus erythematosus H01490 Multiple sclerosis REFERENCE PMID:11196709 AUTHORS Kristiansen OP, Larsen ZM, Pociot F TITLE CTLA-4 in autoimmune diseases--a general susceptibility gene to autoimmunity? JOURNAL Genes Immun 1:170-84 (2000) DOI:10.1038/sj.gene.6363655 REFERENCE PMID:35955729 AUTHORS Beenen AC, Sauerer T, Schaft N, Dorrie J TITLE Beyond Cancer: Regulation and Function of PD-L1 in Health and Immune-Related Diseases. JOURNAL Int J Mol Sci 23:ijms23158599 (2022) DOI:10.3390/ijms23158599 /// ENTRY 5139v1 Variant NAME PDE3A mutation GENE PDE3A phosphodiesterase 3A [KO:K19021] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 123805 REFERENCE PMID:30665554 AUTHORS Elli FM, Pereda A, Linglart A, Perez de Nanclares G, Mantovani G TITLE Parathyroid hormone resistance syndromes - Inactivating PTH/PTHrP signaling disorders (iPPSDs). JOURNAL Best Pract Res Clin Endocrinol Metab 32:941-954 (2018) DOI:10.1016/j.beem.2018.09.008 /// ENTRY 513v1 Variant NAME ATP5F1D mutation GENE ATP5F1D ATP synthase F1 subunit delta [KO:K02134] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 603150 NETWORK nt06529 Thermogenesis DISEASE H01369 ATP synthase deficiency REFERENCE PMID:29478781 AUTHORS Olahova M, Yoon WH, Thompson K, Jangam S, Fernandez L, Davidson JM, Kyle JE, Grove ME, Fisk DG, Kohler JN, Holmes M, Dries AM, Huang Y, Zhao C, Contrepois K, Zappala Z, Fresard L, Waggott D, Zink EM, Kim YM, Heyman HM, Stratton KG, Webb-Robertson BM, Snyder M, Merker JD, Montgomery SB, Fisher PG, Feichtinger RG, Mayr JA, Hall J, Barbosa IA, Simpson MA, Deshpande C, Waters KM, Koeller DM, Metz TO, Morris AA, Schelley S, Cowan T, Friederich MW, McFarland R, Van Hove JLK, Enns GM, Yamamoto S, Ashley EA, Wangler MF, Taylor RW, Bellen HJ, Bernstein JA, Wheeler MT TITLE Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. JOURNAL Am J Hum Genet 102:494-504 (2018) DOI:10.1016/j.ajhg.2018.01.020 /// ENTRY 51434v1 Variant NAME ANAPC7 mutation GENE ANAPC7 anaphase promoting complex subunit 7 [KO:K03354] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 606949 NETWORK nt06512 Chromosome cohesion and segregation DISEASE H02584 Ferguson-Bonni neurodevelopmental syndrome REFERENCE PMID:34942119 AUTHORS Ferguson CJ, Urso O, Bodrug T, Gassaway BM, Watson ER, Prabu JR, Lara-Gonzalez P, Martinez-Chacin RC, Wu DY, Brigatti KW, Puffenberger EG, Taylor CM, Haas-Givler B, Jinks RN, Strauss KA, Desai A, Gabel HW, Gygi SP, Schulman BA, Brown NG, Bonni A TITLE APC7 mediates ubiquitin signaling in constitutive heterochromatin in the developing mammalian brain. JOURNAL Mol Cell 82:90-105.e13 (2022) DOI:10.1016/j.molcel.2021.11.031 /// ENTRY 514v1 Variant NAME ATP5F1E mutation GENE ATP5F1E ATP synthase F1 subunit epsilon [KO:K02135] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 606153 NETWORK nt06529 Thermogenesis DISEASE H01369 ATP synthase deficiency REFERENCE PMID:20566710 AUTHORS Mayr JA, Havlickova V, Zimmermann F, Magler I, Kaplanova V, Jesina P, Pecinova A, Nuskova H, Koch J, Sperl W, Houstek J TITLE Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 epsilon subunit. JOURNAL Hum Mol Genet 19:3430-9 (2010) DOI:10.1093/hmg/ddq254 /// ENTRY 5154v1 Variant NAME PDGFA overexpression GENE PDGFA platelet derived growth factor subunit A [KO:K04359] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION overexpression NETWORK nt06210 ERK signaling nt06273 Glioma nt06526 MAPK signaling DISEASE H00042 Glioma REFERENCE PMID:15639402 AUTHORS Soni D, King JA, Kaye AH, Hovens CM. TITLE Genetics of glioblastoma multiforme: mitogenic signaling and cell cycle pathways converge. JOURNAL J Clin Neurosci 12:1-5 (2005) DOI:10.1016/j.jocn.2004.04.001 REFERENCE PMID:11253051 AUTHORS Holland EC. TITLE Gliomagenesis: genetic alterations and mouse models. JOURNAL Nat Rev Genet 2:120-9 (2001) DOI:10.1038/35052535 REFERENCE PMID:12154354 AUTHORS Zhu Y, Parada LF. TITLE The molecular and genetic basis of neurological tumours. JOURNAL Nat Rev Cancer 2:616-26 (2002) DOI:10.1038/nrc866 REFERENCE PMID:1317261 AUTHORS Hermanson M, Funa K, Hartman M, Claesson-Welsh L, Heldin CH, Westermark B, Nister M TITLE Platelet-derived growth factor and its receptors in human glioma tissue: expression of messenger RNA and protein suggests the presence of autocrine and paracrine loops. JOURNAL Cancer Res 52:3213-9 (1992) /// ENTRY 5155v1 Variant NAME PDGFB overexpression GENE PDGFB platelet derived growth factor subunit B [KO:K17386] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION overexpression NETWORK nt06210 ERK signaling nt06273 Glioma nt06526 MAPK signaling DISEASE H00042 Glioma REFERENCE PMID:15639402 AUTHORS Soni D, King JA, Kaye AH, Hovens CM. TITLE Genetics of glioblastoma multiforme: mitogenic signaling and cell cycle pathways converge. JOURNAL J Clin Neurosci 12:1-5 (2005) DOI:10.1016/j.jocn.2004.04.001 REFERENCE PMID:11253051 AUTHORS Holland EC. TITLE Gliomagenesis: genetic alterations and mouse models. JOURNAL Nat Rev Genet 2:120-9 (2001) DOI:10.1038/35052535 REFERENCE PMID:12154354 AUTHORS Zhu Y, Parada LF. TITLE The molecular and genetic basis of neurological tumours. JOURNAL Nat Rev Cancer 2:616-26 (2002) DOI:10.1038/nrc866 REFERENCE PMID:1317261 AUTHORS Hermanson M, Funa K, Hartman M, Claesson-Welsh L, Heldin CH, Westermark B, Nister M TITLE Platelet-derived growth factor and its receptors in human glioma tissue: expression of messenger RNA and protein suggests the presence of autocrine and paracrine loops. JOURNAL Cancer Res 52:3213-9 (1992) /// ENTRY 5156v1 Variant NAME PDGFRA amplification GENE PDGFRA platelet derived growth factor receptor alpha [KO:K04363] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION amplification ClinVar: 57074 394609 58030 58029 58028 dbVar: nsv529304 nsv2773339 nsv530293 nsv530292 nsv530291 NETWORK nt06210 ERK signaling nt06214 PI3K signaling nt06220 Calcium signaling nt06273 Glioma nt06526 MAPK signaling nt06528 Calcium signaling nt06530 PI3K signaling DISEASE H00014 Non-small cell lung cancer H00042 Glioma REFERENCE PMID:1322795 AUTHORS Fleming TP, Saxena A, Clark WC, Robertson JT, Oldfield EH, Aaronson SA, Ali IU TITLE Amplification and/or overexpression of platelet-derived growth factor receptors and epidermal growth factor receptor in human glial tumors. JOURNAL Cancer Res 52:4550-3 (1992) /// ENTRY 5156v2 Variant NAME PDGFRA avapritinib-susceptible variation GENE PDGFRA platelet derived growth factor receptor alpha [KO:K04363] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutation D842V ClinVar: 13543 dbSNP: rs121908585 DRUG_TARGET Avapritinib: D11279 REFERENCE PMID:29093181 AUTHORS Evans EK, Gardino AK, Kim JL, Hodous BL, Shutes A, Davis A, Zhu XJ, Schmidt-Kittler O, Wilson D, Wilson K, DiPietro L, Zhang Y, Brooijmans N, LaBranche TP, Wozniak A, Gebreyohannes YK, Schoffski P, Heinrich MC, DeAngelo DJ, Miller S, Wolf B, Kohl N, Guzi T, Lydon N, Boral A, Lengauer C TITLE A precision therapy against cancers driven by KIT/PDGFRA mutations. JOURNAL Sci Transl Med 9:eaao1690 (2017) DOI:10.1126/scitranslmed.aao1690 REFERENCE PMID:31974168 TITLE Avapritinib Approved for GIST Subgroup. JOURNAL Cancer Discov 2159-8290.CD-NB2020-003 (2020) DOI:10.1158/2159-8290.CD-NB2020-003 REFERENCE PMID:32053767 AUTHORS Florou V, Trent JC, Wilky BA TITLE Precision medicine in gastrointestinal stromal tumors. JOURNAL Discov Med 28:267-276 (2019) REFERENCE PMID:30274985 AUTHORS Gebreyohannes YK, Wozniak A, Zhai ME, Wellens J, Cornillie J, Vanleeuw U, Evans E, Gardino AK, Lengauer C, Debiec-Rychter M, Sciot R, Schoffski P TITLE Robust Activity of Avapritinib, Potent and Highly Selective Inhibitor of Mutated KIT, in Patient-derived Xenograft Models of Gastrointestinal Stromal Tumors. JOURNAL Clin Cancer Res 25:609-618 (2019) DOI:10.1158/1078-0432.CCR-18-1858 /// ENTRY 51601v1 Variant NAME LIPT1 deficiency GENE LIPT1 lipoyltransferase 1 [KO:K10105] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 610284 NETWORK nt06032 Lipoic acid metabolism DISEASE H02643 Lipoyltransferase 1 deficiency REFERENCE PMID:24341803 AUTHORS Soreze Y, Boutron A, Habarou F, Barnerias C, Nonnenmacher L, Delpech H, Mamoune A, Chretien D, Hubert L, Bole-Feysot C, Nitschke P, Correia I, Sardet C, Boddaert N, Hamel Y, Delahodde A, Ottolenghi C, de Lonlay P TITLE Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase. JOURNAL Orphanet J Rare Dis 8:192 (2013) DOI:10.1186/1750-1172-8-192 /// ENTRY 51604v1 Variant NAME PIGT deficiency GENE PIGT phosphatidylinositol glycan anchor biosynthesis class T [KO:K05292] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 610272 NETWORK nt06018 GPI-anchor biosynthesis DISEASE H01486 Multiple congenital anomalies-hypotonia-seizures syndrome REFERENCE PMID:25943031 AUTHORS Lam C, Golas GA, Davids M, Huizing M, Kane MS, Krasnewich DM, Malicdan MCV, Adams DR, Markello TC, Zein WM, Gropman AL, Lodish MB, Stratakis CA, Maric I, Rosenzweig SD, Baker EH, Ferreira CR, Danylchuk NR, Kahler S, Garnica AD, Bradley Schaefer G, Boerkoel CF, Gahl WA, Wolfe LA TITLE Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors. JOURNAL Mol Genet Metab 115:128-140 (2015) DOI:10.1016/j.ymgme.2015.04.007 /// ENTRY 5160v1 Variant NAME PDHA1 deficiency GENE PDHA1 pyruvate dehydrogenase E1 subunit alpha 1 [KO:K00161] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 300502 NETWORK nt06031 Citrate cycle and pyruvate metabolism DISEASE H01997 Pyruvate dehydrogenase E1-alpha deficiency REFERENCE PMID:2537010 AUTHORS Endo H, Hasegawa K, Narisawa K, Tada K, Kagawa Y, Ohta S TITLE Defective gene in lactic acidosis: abnormal pyruvate dehydrogenase E1 alpha-subunit caused by a frame shift. JOURNAL Am J Hum Genet 44:358-64 (1989) /// ENTRY 51626v1 Variant NAME DYNC2LI1 mutation GENE DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 [KO:K10417] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 617083 NETWORK nt06515 Regulation of kinetochore-microtubule interactions DISEASE H02157 Short-rib thoracic dysplasia REFERENCE PMID:26077881 AUTHORS Taylor SP, Dantas TJ, Duran I, Wu S, Lachman RS, Nelson SF, Cohn DH, Vallee RB, Krakow D TITLE Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome. JOURNAL Nat Commun 6:7092 (2015) DOI:10.1038/ncomms8092 /// ENTRY 5162v1 Variant NAME PDHB deficiency GENE PDHB pyruvate dehydrogenase E1 subunit beta [KO:K00162] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 179060 NETWORK nt06031 Citrate cycle and pyruvate metabolism DISEASE H01998 Pyruvate dehydrogenase E1-beta deficiency REFERENCE PMID:15138885 AUTHORS Brown RM, Head RA, Boubriak II, Leonard JV, Thomas NH, Brown GK TITLE Mutations in the gene for the E1beta subunit: a novel cause of pyruvate dehydrogenase deficiency. JOURNAL Hum Genet 115:123-7 (2004) DOI:10.1007/s00439-004-1124-8 /// ENTRY 51655v1 Variant NAME RASD1 mutation GENE RASD1 ras related dexamethasone induced 1 [KO:K07843] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutation K34M COSM: 6196669 NETWORK nt06310 CRH-ACTH-cortisol signaling nt06360 Cushing syndrome DISEASE H01102 Pituitary adenomas H01431 Cushing syndrome REFERENCE PMID:28487882 AUTHORS Uzilov AV, Cheesman KC, Fink MY, Newman LC, Pandya C, Lalazar Y, Hefti M, Fowkes M, Deikus G, Lau CY, Moe AS, Kinoshita Y, Kasai Y, Zweig M, Gupta A, Starcevic D, Mahajan M, Schadt EE, Post KD, Donovan MJ, Sebra R, Chen R, Geer EB TITLE Identification of a novel RASD1 somatic mutation in a USP8-mutated corticotroph adenoma. JOURNAL Cold Spring Harb Mol Case Stud 3:a001602 (2017) DOI:10.1101/mcs.a001602 /// ENTRY 51684v1 Variant NAME SUFU mutation GENE SUFU SUFU negative regulator of hedgehog signaling [KO:K06229] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 607035 NETWORK nt06501 HH signaling DISEASE H00530 Joubert syndrome and related disorders H00895 Basal cell nevus syndrome REFERENCE PMID:31781166 AUTHORS Sasai N, Toriyama M, Kondo T TITLE Hedgehog Signal and Genetic Disorders. JOURNAL Front Genet 10:1103 (2019) DOI:10.3389/fgene.2019.01103 /// ENTRY 5172v1 Variant NAME SLC26A4 mutation GENE SLC26A4 solute carrier family 26 member 4 [KO:K14702] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 605646 NETWORK nt06322 TRH-TSH-TH signaling DISEASE H00251 Thyroid dyshormonogenesis REFERENCE PMID:9618167 AUTHORS Coyle B, Reardon W, Herbrick JA, Tsui LC, Gausden E, Lee J, Coffey R, Grueters A, Grossman4 A, Phelps PD, Luxon L, Kendall-Taylor P, Scherer SW, Trembath RC TITLE Molecular analysis of the PDS gene in Pendred syndrome. JOURNAL Hum Mol Genet 7:1105-12 (1998) DOI:10.1093/hmg/7.7.1105 REFERENCE PMID:15531480 AUTHORS Napiontek U, Borck G, Muller-Forell W, Pfarr N, Bohnert A, Keilmann A, Pohlenz J TITLE Intrafamilial variability of the deafness and goiter phenotype in Pendred syndrome caused by a T416P mutation in the SLC26A4 gene. JOURNAL J Clin Endocrinol Metab 89:5347-51 (2004) DOI:10.1210/jc.2004-1013 REFERENCE PMID:30599477 AUTHORS Kwak MJ TITLE Clinical genetics of defects in thyroid hormone synthesis. JOURNAL Ann Pediatr Endocrinol Metab 23:169-175 (2018) DOI:10.6065/apem.2018.23.4.169 REFERENCE PMID:28648508 AUTHORS Targovnik HM, Citterio CE, Rivolta CM TITLE Iodide handling disorders (NIS, TPO, TG, IYD). JOURNAL Best Pract Res Clin Endocrinol Metab 31:195-212 (2017) DOI:10.1016/j.beem.2017.03.006 REFERENCE PMID:21543982 AUTHORS Grasberger H, Refetoff S TITLE Genetic causes of congenital hypothyroidism due to dyshormonogenesis. JOURNAL Curr Opin Pediatr 23:421-8 (2011) DOI:10.1097/MOP.0b013e32834726a4 /// ENTRY 51733v1 Variant NAME UPB1 deficiency GENE UPB1 beta-ureidopropionase 1 [KO:K01431] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 606673 /// ENTRY 5173v1 Variant NAME PDYN mutation GENE PDYN prodynorphin [KO:K15840] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 131340 NETWORK nt06462 Spinocerebellar ataxia nt06466 Pathways of neurodegeneration DISEASE H00063 Spinocerebellar ataxia (SCA) REFERENCE PMID:21035104 AUTHORS Bakalkin G, Watanabe H, Jezierska J, Depoorter C, Verschuuren-Bemelmans C, Bazov I, Artemenko KA, Yakovleva T, Dooijes D, Van de Warrenburg BP, Zubarev RA, Kremer B, Knapp PE, Hauser KF, Wijmenga C, Nyberg F, Sinke RJ, Verbeek DS TITLE Prodynorphin mutations cause the neurodegenerative disorder spinocerebellar ataxia type 23. JOURNAL Am J Hum Genet 87:593-603 (2010) DOI:10.1016/j.ajhg.2010.10.001 /// ENTRY 51750v1 Variant NAME RTEL1 mutation GENE RTEL1 regulator of telomere elongation helicase 1 [KO:K11136] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 608833 NETWORK nt06506 Double-strand break repair nt06510 Telomere length regulation DISEASE H00507 Dyskeratosis congenita H02569 Pulmonary fibrosis and/or bone marrow failure, telomere-related REFERENCE PMID:24115439 AUTHORS Vannier JB, Sandhu S, Petalcorin MI, Wu X, Nabi Z, Ding H, Boulton SJ TITLE RTEL1 is a replisome-associated helicase that promotes telomere and genome-wide replication. JOURNAL Science 342:239-42 (2013) DOI:10.1126/science.1241779 REFERENCE PMID:25607374 AUTHORS Cogan JD, Kropski JA, Zhao M, Mitchell DB, Rives L, Markin C, Garnett ET, Montgomery KH, Mason WR, McKean DF, Powers J, Murphy E, Olson LM, Choi L, Cheng DS, Blue EM, Young LR, Lancaster LH, Steele MP, Brown KK, Schwarz MI, Fingerlin TE, Schwartz DA, Lawson WE, Loyd JE, Zhao Z, Phillips JA 3rd, Blackwell TS TITLE Rare variants in RTEL1 are associated with familial interstitial pneumonia. JOURNAL Am J Respir Crit Care Med 191:646-55 (2015) DOI:10.1164/rccm.201408-1510OC REFERENCE PMID:21097466 AUTHORS Uringa EJ, Youds JL, Lisaingo K, Lansdorp PM, Boulton SJ TITLE RTEL1: an essential helicase for telomere maintenance and the regulation of homologous recombination. JOURNAL Nucleic Acids Res 39:1647-55 (2011) DOI:10.1093/nar/gkq1045 /// ENTRY 51776v1 Variant NAME MAP3K20 mutation GENE MAP3K20 mitogen-activated protein kinase kinase kinase 20 [KO:K04424] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 609479 NETWORK nt06526 MAPK signaling DISEASE H00471 Split-hand/foot malformation REFERENCE PMID:26755636 AUTHORS Spielmann M, Kakar N, Tayebi N, Leettola C, Nurnberg G, Sowada N, Lupianez DG, Harabula I, Flottmann R, Horn D, Chan WL, Wittler L, Yilmaz R, Altmuller J, Thiele H, van Bokhoven H, Schwartz CE, Nurnberg P, Bowie JU, Ahmad J, Kubisch C, Mundlos S, Borck G TITLE Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice. JOURNAL Genome Res 26:183-91 (2016) DOI:10.1101/gr.199430.115 /// ENTRY 51807v1 Variant NAME TUBA8 mutation GENE TUBA8 tubulin alpha 8 [KO:K07374] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 605742 NETWORK nt06515 Regulation of kinetochore-microtubule interactions DISEASE H01740 Macrothrombocytopenia REFERENCE PMID:34704371 AUTHORS Kimmerlin Q, Dupuis A, Bodakuntla S, Weber C, Heim V, Henriot V, Moog S, Eckly A, Gueguen P, Ferec C, Gachet C, Janke C, Lanza F TITLE Mutations in the most divergent alpha-tubulin isotype, alpha8-tubulin, cause defective platelet biogenesis. JOURNAL J Thromb Haemost 20:461-469 (2022) DOI:10.1111/jth.15573 /// ENTRY 5199v1 Variant NAME CFP mutation GENE CFP complement factor properdin [KO:K15412] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 300383 NETWORK nt06513 Complement cascade DISEASE H00104 Alternative complement pathway component defects REFERENCE PMID:8530058 AUTHORS Westberg J, Fredrikson GN, Truedsson L, Sjoholm AG, Uhlen M TITLE Sequence-based analysis of properdin deficiency: identification of point mutations in two phenotypic forms of an X-linked immunodeficiency. JOURNAL Genomics 29:1-8 (1995) DOI:10.1006/geno.1995.1208 REFERENCE PMID:8871668 AUTHORS Fredrikson GN, Westberg J, Kuijper EJ, Tijssen CC, Sjoholm AG, Uhlen M, Truedsson L TITLE Molecular characterization of properdin deficiency type III: dysfunction produced by a single point mutation in exon 9 of the structural gene causing a tyrosine to aspartic acid interchange. JOURNAL J Immunol 157:3666-71 (1996) /// ENTRY 51v1 Variant NAME ACOX1 deficiency GENE ACOX1 acyl-CoA oxidase 1 [KO:K00232] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 609751 NETWORK nt06021 beta-Oxidation in peroxisome DISEASE H02096 Peroxisomal acyl-CoA oxidase deficiency REFERENCE PMID:11815777 AUTHORS Suzuki Y, Iai M, Kamei A, Tanabe Y, Chida S, Yamaguchi S, Zhang Z, Takemoto Y, Shimozawa N, Kondo N TITLE Peroxisomal acyl CoA oxidase deficiency. JOURNAL J Pediatr 140:128-30 (2002) DOI:10.1067/mpd.2002.120511 /// ENTRY 5213v1 Variant NAME PFKM deficiency GENE PFKM phosphofructokinase, muscle [KO:K00850] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 610681 NETWORK nt06017 Glycogen metabolism DISEASE H01945 Glycogen storage disease type VII REFERENCE PMID:8889589 AUTHORS Hamaguchi T, Nakajima H, Noguchi T, Nakagawa C, Kuwajima M, Kono N, Tarui S, Matsuzawa Y TITLE Novel missense mutation (W686C) of the phosphofructokinase-M gene in a Japanese patient with a mild form of glycogenosis VII. JOURNAL Hum Mutat 8:273-5 (1996) DOI:10.1002/(SICI)1098-1004(1996)8:3&lt;273::AID-HUMU13&gt;3.0.CO;2-# /// ENTRY 5216v1 Variant NAME PFN1 mutation GENE PFN1 profilin 1 [KO:K05759] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 176610 NETWORK nt06464 Amyotrophic lateral sclerosis DISEASE H00058 Amyotrophic lateral sclerosis (ALS) REFERENCE PMID:22801503 AUTHORS Wu CH, Fallini C, Ticozzi N, Keagle PJ, Sapp PC, Piotrowska K, Lowe P, Koppers M, McKenna-Yasek D, Baron DM, Kost JE, Gonzalez-Perez P, Fox AD, Adams J, Taroni F, Tiloca C, Leclerc AL, Chafe SC, Mangroo D, Moore MJ, Zitzewitz JA, Xu ZS, van den Berg LH, Glass JD, Siciliano G, Cirulli ET, Goldstein DB, Salachas F, Meininger V, Rossoll W, Ratti A, Gellera C, Bosco DA, Bassell GJ, Silani V, Drory VE, Brown RH Jr, Landers JE TITLE Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis. JOURNAL Nature 488:499-503 (2012) DOI:10.1038/nature11280 /// ENTRY 5224v1 Variant NAME PGAM2 deficiency GENE PGAM2 phosphoglycerate mutase 2 [KO:K01834] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 612931 NETWORK nt06017 Glycogen metabolism DISEASE H01951 Glycogen storage disease type X REFERENCE PMID:8447317 AUTHORS Tsujino S, Shanske S, Sakoda S, Fenichel G, DiMauro S TITLE The molecular genetic basis of muscle phosphoglycerate mutase (PGAM) deficiency. JOURNAL Am J Hum Genet 52:472-7 (1993) /// ENTRY 5236v1 Variant NAME PGM1 deficiency GENE PGM1 phosphoglucomutase 1 [KO:K01835] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 171900 NETWORK nt06015 N-Glycan biosynthesis DISEASE H00118 Congenital disorders of glycosylation type I REFERENCE PMID:24499211 AUTHORS Tegtmeyer LC, Rust S, van Scherpenzeel M, Ng BG, Losfeld ME, Timal S, Raymond K, He P, Ichikawa M, Veltman J, Huijben K, Shin YS, Sharma V, Adamowicz M, Lammens M, Reunert J, Witten A, Schrapers E, Matthijs G, Jaeken J, Rymen D, Stojkovic T, Laforet P, Petit F, Aumaitre O, Czarnowska E, Piraud M, Podskarbi T, Stanley CA, Matalon R, Burda P, Seyyedi S, Debus V, Socha P, Sykut-Cegielska J, van Spronsen F, de Meirleir L, Vajro P, DeClue T, Ficicioglu C, Wada Y, Wevers RA, Vanderschaeghe D, Callewaert N, Fingerhut R, van Schaftingen E, Freeze HH, Morava E, Lefeber DJ, Marquardt T TITLE Multiple phenotypes in phosphoglucomutase 1 deficiency. JOURNAL N Engl J Med 370:533-42 (2014) DOI:10.1056/NEJMoa1206605 /// ENTRY 5265v1 Variant NAME SERPINA1 mutation GENE SERPINA1 serpin family A member 1 [KO:K03984] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 107400 NETWORK nt06514 Coagulation cascade DISEASE H01103 Alpha-1-antitrypsin deficiency H01714 Chronic obstructive pulmonary disease (COPD) REFERENCE PMID:32844538 AUTHORS de Loyola MB, Dos Reis TTA, de Oliveira GXLM, da Fonseca Palmeira J, Arganaraz GA, Arganaraz ER TITLE Alpha-1-antitrypsin: A possible host protective factor against Covid-19. JOURNAL Rev Med Virol 31:e2157 (2021) DOI:10.1002/rmv.2157 REFERENCE PMID:16278826 AUTHORS Chappell S, Daly L, Morgan K, Guetta Baranes T, Roca J, Rabinovich R, Millar A, Donnelly SC, Keatings V, MacNee W, Stolk J, Hiemstra P, Miniati M, Monti S, O'Connor CM, Kalsheker N TITLE Cryptic haplotypes of SERPINA1 confer susceptibility to chronic obstructive pulmonary disease. JOURNAL Hum Mutat 27:103-9 (2006) DOI:10.1002/humu.20275 /// ENTRY 5277v1 Variant NAME PIGA deficiency GENE PIGA phosphatidylinositol glycan anchor biosynthesis class A [KO:K03857] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 311770 NETWORK nt06018 GPI-anchor biosynthesis DISEASE H01486 Multiple congenital anomalies-hypotonia-seizures syndrome REFERENCE PMID:22305531 AUTHORS Johnston JJ, Gropman AL, Sapp JC, Teer JK, Martin JM, Liu CF, Yuan X, Ye Z, Cheng L, Brodsky RA, Biesecker LG TITLE The phenotype of a germline mutation in PIGA: the gene somatically mutated in paroxysmal nocturnal hemoglobinuria. JOURNAL Am J Hum Genet 90:295-300 (2012) DOI:10.1016/j.ajhg.2011.11.031 /// ENTRY 5279v1 Variant NAME PIGC deficiency GENE PIGC phosphatidylinositol glycan anchor biosynthesis class C [KO:K03859] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 601730 NETWORK nt06018 GPI-anchor biosynthesis DISEASE H01489 Inherited glycosylphosphatidylinositol deficiencies REFERENCE PMID:27694521 AUTHORS Edvardson S, Murakami Y, Nguyen TT, Shahrour M, St-Denis A, Shaag A, Damseh N, Le Deist F, Bryceson Y, Abu-Libdeh B, Campeau PM, Kinoshita T, Elpeleg O TITLE Mutations in the phosphatidylinositol glycan C (PIGC) gene are associated with epilepsy and intellectual disability. JOURNAL J Med Genet 54:196-201 (2017) DOI:10.1136/jmedgenet-2016-104202 /// ENTRY 5283v1 Variant NAME PIGH deficiency GENE PIGH phosphatidylinositol glycan anchor biosynthesis class H [KO:K03858] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 600154 NETWORK nt06018 GPI-anchor biosynthesis DISEASE H01489 Inherited glycosylphosphatidylinositol deficiencies REFERENCE PMID:29573052 AUTHORS Pagnamenta AT, Murakami Y, Anzilotti C, Titheradge H, Oates AJ, Morton J, Kinoshita T, Kini U, Taylor JC TITLE A homozygous variant disrupting the PIGH start-codon is associated with developmental delay, epilepsy, and microcephaly. JOURNAL Hum Mutat 39:822-826 (2018) DOI:10.1002/humu.23420 /// ENTRY 5286v1 Variant NAME PIK3C2A mutation GENE PIK3C2A phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha [KO:K00923] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 603601 NETWORK nt06515 Regulation of kinetochore-microtubule interactions DISEASE H02595 Oculoskeletodental syndrome REFERENCE PMID:31034465 AUTHORS Tiosano D, Baris HN, Chen A, Hitzert MM, Schueler M, Gulluni F, Wiesener A, Bergua A, Mory A, Copeland B, Gleeson JG, Rump P, van Meer H, Sival DA, Haucke V, Kriwinsky J, Knaup KX, Reis A, Hauer NN, Hirsch E, Roepman R, Pfundt R, Thiel CT, Wiesener MS, Aslanyan MG, Buchner DA TITLE Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction. JOURNAL PLoS Genet 15:e1008088 (2019) DOI:10.1371/journal.pgen.1008088 /// ENTRY 5290v1 Variant NAME PIK3CA mutation GENE PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha [KO:K00922] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutation E542K ClinVar: 31944 dbSNP: rs121913273 VARIATION mutation E545K ClinVar: 13655 dbSNP: rs104886003 VARIATION mutation H1047R ClinVar: 13652 dbSNP: rs121913279 VARIATION mutation H1047L ClinVar: 13653 dbSNP: rs121913279 VARIATION mutation E545A ClinVar: 13659 dbSNP: rs121913274 NETWORK nt06214 PI3K signaling nt06263 Hepatocellular carcinoma nt06270 Breast cancer nt06530 PI3K signaling DISEASE H00031 Breast cancer H00048 Hepatocellular carcinoma DRUG_TARGET Alpelisib: D11011 REFERENCE PMID:28228706 AUTHORS Lux MP, Fasching PA, Schrauder MG, Hein A, Jud SM, Rauh C, Beckmann MW TITLE The PI3K Pathway: Background and Treatment Approaches. JOURNAL Breast Care (Basel) 11:398-404 (2016) DOI:10.1159/000453133 REFERENCE PMID:26028978 AUTHORS Mukohara T TITLE PI3K mutations in breast cancer: prognostic and therapeutic implications. JOURNAL Breast Cancer (Dove Med Press) 7:111-23 (2015) DOI:10.2147/BCTT.S60696 REFERENCE PMID:15608678 AUTHORS Lee JW, Soung YH, Kim SY, Lee HW, Park WS, Nam SW, Kim SH, Lee JY, Yoo NJ, Lee SH TITLE PIK3CA gene is frequently mutated in breast carcinomas and hepatocellular carcinomas. JOURNAL Oncogene 24:1477-80 (2005) DOI:10.1038/sj.onc.1208304 /// ENTRY 5290v2 Variant NAME PIK3CA amplification GENE PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha [KO:K00922] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION amplification NETWORK nt06214 PI3K signaling nt06270 Breast cancer nt06530 PI3K signaling DISEASE H00031 Breast cancer REFERENCE PMID:26028978 AUTHORS Mukohara T TITLE PI3K mutations in breast cancer: prognostic and therapeutic implications. JOURNAL Breast Cancer (Dove Med Press) 7:111-23 (2015) DOI:10.2147/BCTT.S60696 /// ENTRY 5290v3 Variant NAME PIK3CA mutation GENE PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha [KO:K00922] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 171834 NETWORK nt06530 PI3K signaling DISEASE H00534 Cerebral cavernous malformation H01222 Cowden syndrome H01912 Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi H02153 Megalencephaly-capillary malformation syndrome H02297 CLAPO syndrome H02627 Epidermal nevus H02647 Macrodactyly REFERENCE PMID:34238334 AUTHORS Canaud G, Hammill AM, Adams D, Vikkula M, Keppler-Noreuil KM TITLE A review of mechanisms of disease across PIK3CA-related disorders with vascular manifestations. JOURNAL Orphanet J Rare Dis 16:306 (2021) DOI:10.1186/s13023-021-01929-8 REFERENCE PMID:27860216 AUTHORS Keppler-Noreuil KM, Parker VE, Darling TN, Martinez-Agosto JA TITLE Somatic overgrowth disorders of the PI3K/AKT/mTOR pathway & therapeutic strategies. JOURNAL Am J Med Genet C Semin Med Genet 172:402-421 (2016) DOI:10.1002/ajmg.c.31531 /// ENTRY 5293v1 Variant NAME PIK3CD mutation GENE PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta [KO:K00922] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 602839 NETWORK nt06530 PI3K signaling DISEASE H01387 Activated PI3K-delta syndrome H02585 Roifman-Chitayat syndrome REFERENCE PMID:29180244 AUTHORS Sharfe N, Karanxha A, Dadi H, Merico D, Chitayat D, Herbrick JA, Freeman S, Grinstein S, Roifman CM TITLE Dual loss of p110delta PI3-kinase and SKAP (KNSTRN) expression leads to combined immunodeficiency and multisystem syndromic features. JOURNAL J Allergy Clin Immunol 142:618-629 (2018) DOI:10.1016/j.jaci.2017.10.033 REFERENCE PMID:27616589 AUTHORS Lucas CL, Chandra A, Nejentsev S, Condliffe AM, Okkenhaug K TITLE PI3Kdelta and primary immunodeficiencies. JOURNAL Nat Rev Immunol 16:702-714 (2016) DOI:10.1038/nri.2016.93 /// ENTRY 5294v1 Variant NAME PIK3CG mutation GENE PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma [KO:K21289] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 601232 NETWORK nt06530 PI3K signaling DISEASE H00093 Combined immunodeficiency REFERENCE PMID:31554793 AUTHORS Takeda AJ, Maher TJ, Zhang Y, Lanahan SM, Bucklin ML, Compton SR, Tyler PM, Comrie WA, Matsuda M, Olivier KN, Pittaluga S, McElwee JJ, Long Priel DA, Kuhns DB, Williams RL, Mustillo PJ, Wymann MP, Koneti Rao V, Lucas CL TITLE Human PI3Kgamma deficiency and its microbiota-dependent mouse model reveal immunodeficiency and tissue immunopathology. JOURNAL Nat Commun 10:4364 (2019) DOI:10.1038/s41467-019-12311-5 /// ENTRY 5295v1 Variant NAME PIK3R1 mutation GENE PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 [KO:K02649] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 171833 NETWORK nt06530 PI3K signaling DISEASE H00085 Agammaglobulinemias H01370 SHORT syndrome H01387 Activated PI3K-delta syndrome REFERENCE PMID:27616589 AUTHORS Lucas CL, Chandra A, Nejentsev S, Condliffe AM, Okkenhaug K TITLE PI3Kdelta and primary immunodeficiencies. JOURNAL Nat Rev Immunol 16:702-714 (2016) DOI:10.1038/nri.2016.93 REFERENCE PMID:30107266 AUTHORS Azizi G, Yazdani R, Rae W, Abolhassani H, Rojas M, Aghamohammadi A, Anaya JM TITLE Monogenic polyautoimmunity in primary immunodeficiency diseases. JOURNAL Autoimmun Rev 17:1028-1039 (2018) DOI:10.1016/j.autrev.2018.05.001 REFERENCE PMID:34127844 AUTHORS Vanhaesebroeck B, Perry MWD, Brown JR, Andre F, Okkenhaug K TITLE PI3K inhibitors are finally coming of age. JOURNAL Nat Rev Drug Discov 20:741-769 (2021) DOI:10.1038/s41573-021-00209-1 /// ENTRY 5296v1 Variant NAME PIK3R2 mutation GENE PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 [KO:K02649] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 603157 NETWORK nt06530 PI3K signaling DISEASE H01885 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome REFERENCE PMID:30197175 AUTHORS Madsen RR, Vanhaesebroeck B, Semple RK TITLE Cancer-Associated PIK3CA Mutations in Overgrowth Disorders. JOURNAL Trends Mol Med 24:856-870 (2018) DOI:10.1016/j.molmed.2018.08.003 /// ENTRY 5313v1 Variant NAME PKLR deficiency GENE PKLR pyruvate kinase L/R [KO:K12406] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 609712 NETWORK nt06031 Citrate cycle and pyruvate metabolism DISEASE H01096 Pyruvate kinase deficiency REFERENCE PMID:9090535 AUTHORS Beutler E, Westwood B, van Zwieten R, Roos D TITLE G-->T transition at cDNA nt 110 (K37Q) in the PKLR (pyruvate kinase) gene is the molecular basis of a case of hereditary increase of red blood cell ATP. JOURNAL Hum Mutat 9:282-5 (1997) DOI:10.1002/(SICI)1098-1004(1997)9:3<282::AID-HUMU13>3.0.CO;2-Z /// ENTRY 5333v1 Variant NAME PLCD1 mutation GENE PLCD1 phospholipase C delta 1 [KO:K05857] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 602142 NETWORK nt06528 Calcium signaling DISEASE H01307 Nonsyndromic congenital nail disorder REFERENCE PMID:9588182 AUTHORS Shimohama S, Kamiya S, Fujii M, Ogawa T, Kanamori M, Kawamata J, Imura T, Taniguchi T, Yagisawa H TITLE Mutation in the pleckstrin homology domain of the human phospholipase C-delta 1 gene is associated with loss of function. JOURNAL Biochem Biophys Res Commun 245:722-8 (1998) DOI:10.1006/bbrc.1998.8307 /// ENTRY 5336v1 Variant NAME PLCG2 mutation GENE PLCG2 phospholipase C gamma 2 [KO:K05859] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 600220 NETWORK nt06528 Calcium signaling DISEASE H01743 Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation H02159 Familial cold autoinflammatory syndrome REFERENCE PMID:34157287 AUTHORS Jackson JT, Mulazzani E, Nutt SL, Masters SL TITLE The role of PLCgamma2 in immunological disorders, cancer, and neurodegeneration. JOURNAL J Biol Chem 297:100905 (2021) DOI:10.1016/j.jbc.2021.100905 REFERENCE PMID:33936634 AUTHORS Kutukculer N, Topyildiz E, Berdeli A, Guven Bilgin B, Aykut A, Durmaz A, Cogulu O, Aksu G, Edeer Karaca N TITLE Four diseases, PLAID, APLAID, FCAS3 and CVID and one gene (PHOSPHOLIPASE C, GAMMA-2; PLCG2): Striking clinical phenotypic overlap and difference. JOURNAL Clin Case Rep 9:2023-2031 (2021) DOI:10.1002/ccr3.3934 /// ENTRY 5340v1 Variant NAME PLG mutation GENE PLG plasminogen [KO:K01315] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 173350 NETWORK nt06514 Coagulation cascade DISEASE H01006 Hereditary angioedema H01206 Plasminogen deficiency REFERENCE PMID:30656274 AUTHORS Levi M, Cohn DM, Zeerleder S TITLE Hereditary angioedema: Linking complement regulation to the coagulation system. JOURNAL Res Pract Thromb Haemost 3:38-43 (2019) DOI:10.1002/rth2.12175 REFERENCE PMID:19141167 AUTHORS Mehta R, Shapiro AD TITLE Plasminogen deficiency. JOURNAL Haemophilia 14:1261-8 (2008) DOI:10.1111/j.1365-2516.2008.01825.x /// ENTRY 5345v1 Variant NAME SERPINF2 mutation GENE SERPINF2 serpin family F member 2 [KO:K03983] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 613168 NETWORK nt06514 Coagulation cascade DISEASE H00983 Alpha-2-plasmin inhibitor (a2-PI) deficiency REFERENCE PMID:11472338 AUTHORS Favier R, Aoki N, de Moerloose P TITLE Congenital alpha(2)-plasmin inhibitor deficiencies: a review. JOURNAL Br J Haematol 114:4-10 (2001) DOI:10.1046/j.1365-2141.2001.02845.x /// ENTRY 5350v1 Variant NAME PLN mutation GENE PLN phospholamban [KO:K05852] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 172405 NETWORK nt06528 Calcium signaling DISEASE H00292 Hypertrophic cardiomyopathy H00294 Dilated cardiomyopathy REFERENCE PMID:12705874 AUTHORS Minamisawa S, Sato Y, Tatsuguchi Y, Fujino T, Imamura S, Uetsuka Y, Nakazawa M, Matsuoka R TITLE Mutation of the phospholamban promoter associated with hypertrophic cardiomyopathy. JOURNAL Biochem Biophys Res Commun 304:1-4 (2003) DOI:10.1016/s0006-291x(03)00526-6 REFERENCE PMID:12639993 AUTHORS Haghighi K, Kolokathis F, Pater L, Lynch RA, Asahi M, Gramolini AO, Fan GC, Tsiapras D, Hahn HS, Adamopoulos S, Liggett SB, Dorn GW 2nd, MacLennan DH, Kremastinos DT, Kranias EG TITLE Human phospholamban null results in lethal dilated cardiomyopathy revealing a critical difference between mouse and human. JOURNAL J Clin Invest 111:869-76 (2003) DOI:10.1172/JCI17892 /// ENTRY 5371v1 Variant NAME PML-RARA fusion GENE PML PML nuclear body scaffold [KO:K10054] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION translocation t(15;17)(q22;q12) COSF: 2300 2302 2304 NETWORK nt06240 Transcription nt06275 Acute myeloid leukemia DISEASE H00003 Acute myeloid leukemia REFERENCE PMID:12032780 AUTHORS Scandura JM, Boccuni P, Cammenga J, Nimer SD TITLE Transcription factor fusions in acute leukemia: variations on a theme. JOURNAL Oncogene 21:3422-44 (2002) DOI:10.1038/sj.onc.1205315 REFERENCE PMID:16236521 AUTHORS Steffen B, Muller-Tidow C, Schwable J, Berdel WE, Serve H. TITLE The molecular pathogenesis of acute myeloid leukemia. JOURNAL Crit Rev Oncol Hematol 56:195-221 (2005) DOI:10.1016/j.critrevonc.2004.10.012 REFERENCE PMID:26959069 AUTHORS Saultz JN, Garzon R TITLE Acute Myeloid Leukemia: A Concise Review. JOURNAL J Clin Med 5:E33 (2016) DOI:10.3390/jcm5030033 /// ENTRY 5373v1 Variant NAME PMM2 deficiency GENE PMM2 phosphomannomutase 2 [KO:K17497] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 601785 NETWORK nt06015 N-Glycan biosynthesis DISEASE H00118 Congenital disorders of glycosylation type I REFERENCE PMID:28425223 AUTHORS Vals MA, Morava E, Teeaar K, Zordania R, Pajusalu S, Lefeber DJ, Ounap K TITLE Three families with mild PMM2-CDG and normal cognitive development. JOURNAL Am J Med Genet A 173:1620-1624 (2017) DOI:10.1002/ajmg.a.38235 /// ENTRY 53947v1 Variant NAME A4GALT P1+, Pk+ allele GENE A4GALT alpha 1,4-galactosyltransferase (P blood group) [KO:K01988] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION polymorphism OmimVar: 607922 NETWORK nt06035 Blood group carbohydrate antigen biosynthesis REFERENCE PMID:10747952 AUTHORS Steffensen R, Carlier K, Wiels J, Levery SB, Stroud M, Cedergren B, Nilsson Sojka B, Bennett EP, Jersild C, Clausen H. TITLE Cloning and expression of the histo-blood group Pk UDP-galactose: Ga1beta-4G1cbeta1-cer alpha1, 4-galactosyltransferase. Molecular genetic basis of the p phenotype. JOURNAL J Biol Chem 275:16723-9 (2000) DOI:10.1074/jbc.M000728200 /// ENTRY 53947v2 Variant NAME A4GALT P1+, Pk+, NOR+ allele GENE A4GALT alpha 1,4-galactosyltransferase (P blood group) [KO:K01988] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION polymorphism OmimVar: 607922 NETWORK nt06035 Blood group carbohydrate antigen biosynthesis REFERENCE PMID:22965229 AUTHORS Suchanowska A, Kaczmarek R, Duk M, Lukasiewicz J, Smolarek D, Majorczyk E, Jaskiewicz E, Laskowska A, Wasniowska K, Grodecka M, Lisowska E, Czerwinski M. TITLE A single point mutation in the gene encoding Gb3/CD77 synthase causes a rare inherited polyagglutination syndrome. JOURNAL J Biol Chem 287:38220-30 (2012) DOI:10.1074/jbc.M112.408286 /// ENTRY 53947v3 Variant NAME A4GALT P1-, Pk+ allele GENE A4GALT alpha 1,4-galactosyltransferase (P blood group) [KO:K01988] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION polymorphism OmimVar: 607922 NETWORK nt06035 Blood group carbohydrate antigen biosynthesis REFERENCE PMID:20971946 AUTHORS Thuresson B, Westman JS, Olsson ML TITLE Identification of a novel A4GALT exon reveals the genetic basis of the P1/P2 histo-blood groups. JOURNAL Blood 117:678-87 (2011) DOI:10.1182/blood-2010-08-301333 REFERENCE PMID:29438961 AUTHORS Westman JS, Stenfelt L, Vidovic K, Moller M, Hellberg A, Kjellstrom S, Olsson ML TITLE Allele-selective RUNX1 binding regulates P1 blood group status by transcriptional control of A4GALT. JOURNAL Blood 131:1611-1616 (2018) DOI:10.1182/blood-2017-08-803080 /// ENTRY 53947v4 Variant NAME A4GALT p allele GENE A4GALT alpha 1,4-galactosyltransferase (P blood group) [KO:K01988] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION polymorphism OmimVar: 607922 NETWORK nt06035 Blood group carbohydrate antigen biosynthesis REFERENCE PMID:10993874 AUTHORS Furukawa K, Iwamura K, Uchikawa M, Sojka BN, Wiels J, Okajima T, Urano T, Furukawa K TITLE Molecular basis for the p phenotype. Identification of distinct and multiple mutations in the alpha 1,4-galactosyltransferase gene in Swedish and Japanese individuals. JOURNAL J Biol Chem 275:37752-6 (2000) DOI:10.1074/jbc.C000625200 /// ENTRY 5395v1 Variant NAME PMS2 mutation GENE PMS2 PMS1 homolog 2, mismatch repair system component [KO:K10858] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 600259 NETWORK nt06503 Mismatch repair DISEASE H02565 Hereditary nonpolyposis colorectal cancer REFERENCE PMID:20205264 AUTHORS Vaughn CP, Robles J, Swensen JJ, Miller CE, Lyon E, Mao R, Bayrak-Toydemir P, Samowitz WS TITLE Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes. JOURNAL Hum Mutat 31:588-93 (2010) DOI:10.1002/humu.21230 /// ENTRY 539v1 Variant NAME ATP5PO mutation GENE ATP5PO ATP synthase peripheral stalk subunit OSCP [KO:K02137] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 600828 NETWORK nt06529 Thermogenesis DISEASE H01369 ATP synthase deficiency REFERENCE PMID:35621276 AUTHORS Ganapathi M, Friocourt G, Gueguen N, Friederich MW, Le Gac G, Okur V, Loaec N, Ludwig T, Ka C, Tanji K, Marcorelles P, Theodorou E, Lignelli-Dipple A, Voisset C, Walker MA, Briere LC, Bourhis A, Blondel M, LeDuc C, Hagen J, Cooper C, Muraresku C, Ferec C, Garenne A, Lelez-Soquet S, Rogers CA, Shen Y, Strode DK, Bizargity P, Iglesias A, Goldstein A, High FA, Network UD, Sweetser DA, Ganetzky R, Van Hove JLK, Procaccio V, Le Marechal C, Chung WK TITLE A homozygous splice variant in ATP5PO, disrupts mitochondrial complex V function and causes Leigh syndrome in two unrelated families. JOURNAL J Inherit Metab Dis 45:996-1012 (2022) DOI:10.1002/jimd.12526 /// ENTRY 54205v1 Variant NAME CYCS mutation GENE CYCS cytochrome c, somatic [KO:K08738] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 123970 NETWORK nt06524 Apoptosis DISEASE H00978 Thrombocytopenia (THC) REFERENCE PMID:33480393 AUTHORS Fellner M, Parakra R, McDonald KO, Kass I, Jameson GNL, Wilbanks SM, Ledgerwood EC TITLE Altered structure and dynamics of pathogenic cytochrome c variants correlate with increased apoptotic activity. JOURNAL Biochem J 478:669-684 (2021) DOI:10.1042/BCJ20200793 REFERENCE PMID:24326104 AUTHORS De Rocco D, Cerqua C, Goffrini P, Russo G, Pastore A, Meloni F, Nicchia E, Moraes CT, Pecci A, Salviati L, Savoia A TITLE Mutations of cytochrome c identified in patients with thrombocytopenia THC4 affect both apoptosis and cellular bioenergetics. JOURNAL Biochim Biophys Acta 1842:269-74 (2014) DOI:10.1016/j.bbadis.2013.12.002 /// ENTRY 5422v1 Variant NAME POLA1 mutation GENE POLA1 DNA polymerase alpha 1, catalytic subunit [KO:K02320] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 312040 NETWORK nt06509 DNA replication DISEASE H00658 X-linked syndromic intellectual developmental disorder H02484 X-linked reticulate pigmentary disorder with systemic manifestations REFERENCE PMID:27019227 AUTHORS Starokadomskyy P, Gemelli T, Rios JJ, Xing C, Wang RC, Li H, Pokatayev V, Dozmorov I, Khan S, Miyata N, Fraile G, Raj P, Xu Z, Xu Z, Ma L, Lin Z, Wang H, Yang Y, Ben-Amitai D, Orenstein N, Mussaffi H, Baselga E, Tadini G, Grunebaum E, Sarajlija A, Krzewski K, Wakeland EK, Yan N, de la Morena MT, Zinn AR, Burstein E TITLE DNA polymerase-alpha regulates the activation of type I interferons through cytosolic RNA:DNA synthesis. JOURNAL Nat Immunol 17:495-504 (2016) DOI:10.1038/ni.3409 REFERENCE PMID:31006512 AUTHORS Van Esch H, Colnaghi R, Freson K, Starokadomskyy P, Zankl A, Backx L, Abramowicz I, Outwin E, Rohena L, Faulkner C, Leong GM, Newbury-Ecob RA, Challis RC, Ounap K, Jaeken J, Seuntjens E, Devriendt K, Burstein E, Low KJ, O'Driscoll M TITLE Defective DNA Polymerase alpha-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism. JOURNAL Am J Hum Genet 104:957-967 (2019) DOI:10.1016/j.ajhg.2019.03.006 /// ENTRY 5424v1 Variant NAME POLD1 mutation GENE POLD1 DNA polymerase delta 1, catalytic subunit [KO:K02327] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 174761 NETWORK nt06503 Mismatch repair nt06504 Base excision repair nt06506 Double-strand break repair nt06509 DNA replication DISEASE H01623 MDPL syndrome H02568 Polymerase proofreading-associated polyposis REFERENCE PMID:28791128 AUTHORS Okada A, Kohmoto T, Naruto T, Yokota I, Kotani Y, Shimada A, Miyamoto Y, Takahashi R, Goji A, Masuda K, Kagami S, Imoto I TITLE The first Japanese patient with mandibular hypoplasia, deafness, progeroid features and lipodystrophy diagnosed via POLD1 mutation detection. JOURNAL Hum Genome Var 4:17031 (2017) DOI:10.1038/hgv.2017.31 REFERENCE PMID:33618333 AUTHORS Murdocca M, Spitalieri P, De Masi C, Udroiu I, Marinaccio J, Sanchez M, Talarico RV, Fiorillo C, D'Adamo M, Sbraccia P, D'Apice MR, Novelli G, Sgura A, Sangiuolo F TITLE Functional analysis of POLD1 p.ser605del variant: the aging phenotype of MDPL syndrome is associated with an impaired DNA repair capacity. JOURNAL Aging (Albany NY) 13:4926-4945 (2021) DOI:10.18632/aging.202680 REFERENCE PMID:24501277 AUTHORS Valle L, Hernandez-Illan E, Bellido F, Aiza G, Castillejo A, Castillejo MI, Navarro M, Segui N, Vargas G, Guarinos C, Juarez M, Sanjuan X, Iglesias S, Alenda C, Egoavil C, Segura A, Juan MJ, Rodriguez-Soler M, Brunet J, Gonzalez S, Jover R, Lazaro C, Capella G, Pineda M, Soto JL, Blanco I TITLE New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis. JOURNAL Hum Mol Genet 23:3506-12 (2014) DOI:10.1093/hmg/ddu058 /// ENTRY 5426v1 Variant NAME POLE mutation GENE POLE DNA polymerase epsilon, catalytic subunit [KO:K02324] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 174762 NETWORK nt06503 Mismatch repair nt06504 Base excision repair nt06509 DNA replication DISEASE H02369 IMAGE-I syndrome H02370 FILS syndrome H02568 Polymerase proofreading-associated polyposis REFERENCE PMID:25948378 AUTHORS Thiffault I, Saunders C, Jenkins J, Raje N, Canty K, Sharma M, Grote L, Welsh HI, Farrow E, Twist G, Miller N, Zwick D, Zellmer L, Kingsmore SF, Safina NP TITLE A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromes. JOURNAL BMC Med Genet 16:31 (2015) DOI:10.1186/s12881-015-0177-y REFERENCE PMID:30503519 AUTHORS Logan CV, Murray JE, Parry DA, Robertson A, Bellelli R, Tarnauskaite Z, Challis R, Cleal L, Borel V, Fluteau A, Santoyo-Lopez J, Aitman T, Barroso I, Basel D, Bicknell LS, Goel H, Hu H, Huff C, Hutchison M, Joyce C, Knox R, Lacroix AE, Langlois S, McCandless S, McCarrier J, Metcalfe KA, Morrissey R, Murphy N, Netchine I, O'Connell SM, Olney AH, Paria N, Rosenfeld JA, Sherlock M, Syverson E, White PC, Wise C, Yu Y, Zacharin M, Banerjee I, Reijns M, Bober MB, Semple RK, Boulton SJ, Rios JJ, Jackson AP TITLE DNA Polymerase Epsilon Deficiency Causes IMAGe Syndrome with Variable Immunodeficiency. JOURNAL Am J Hum Genet 103:1038-1044 (2018) DOI:10.1016/j.ajhg.2018.10.024 REFERENCE PMID:25370038 AUTHORS Elsayed FA, Kets CM, Ruano D, van den Akker B, Mensenkamp AR, Schrumpf M, Nielsen M, Wijnen JT, Tops CM, Ligtenberg MJ, Vasen HF, Hes FJ, Morreau H, van Wezel T TITLE Germline variants in POLE are associated with early onset mismatch repair deficient colorectal cancer. JOURNAL Eur J Hum Genet 23:1080-4 (2015) DOI:10.1038/ejhg.2014.242 /// ENTRY 5428v1 Variant NAME POLG mutation GENE POLG DNA polymerase gamma, catalytic subunit [KO:K02332] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 174763 NETWORK nt06504 Base excision repair DISEASE H00469 Mitochondrial DNA depletion syndrome H01118 Progressive external ophthalmoplegia H01390 Mitochondrial neurogastrointestinal encephalomyopathy REFERENCE PMID:12210792 AUTHORS Lamantea E, Tiranti V, Bordoni A, Toscano A, Bono F, Servidei S, Papadimitriou A, Spelbrink H, Silvestri L, Casari G, Comi GP, Zeviani M TITLE Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia. JOURNAL Ann Neurol 52:211-9 (2002) DOI:10.1002/ana.10278 REFERENCE PMID:19010300 AUTHORS Chan SS, Copeland WC TITLE DNA polymerase gamma and mitochondrial disease: understanding the consequence of POLG mutations. JOURNAL Biochim Biophys Acta 1787:312-9 (2009) DOI:10.1016/j.bbabio.2008.10.007 /// ENTRY 5429v1 Variant NAME POLH mutation GENE POLH DNA polymerase eta [KO:K03509] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 603968 NETWORK nt06502 Nucleotide excision repair DISEASE H01428 Xeroderma pigmentosum REFERENCE PMID:16267001 AUTHORS Albertella MR, Green CM, Lehmann AR, O'Connor MJ TITLE A role for polymerase eta in the cellular tolerance to cisplatin-induced damage. JOURNAL Cancer Res 65:9799-806 (2005) DOI:10.1158/0008-5472.CAN-05-1095 /// ENTRY 5430v1 Variant NAME POLR2A mutation GENE POLR2A RNA polymerase II subunit A [KO:K03006] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 180660 NETWORK nt06502 Nucleotide excision repair DISEASE H02571 Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities REFERENCE PMID:31353023 AUTHORS Haijes HA, Koster MJE, Rehmann H, Li D, Hakonarson H, Cappuccio G, Hancarova M, Lehalle D, Reardon W, Schaefer GB, Lehman A, van de Laar IMBH, Tesselaar CD, Turner C, Goldenberg A, Patrier S, Thevenon J, Pinelli M, Brunetti-Pierri N, Prchalova D, Havlovicova M, Vlckova M, Sedlacek Z, Lopez E, Ragoussis V, Pagnamenta AT, Kini U, Vos HR, van Es RM, van Schaik RFMA, van Essen TAJ, Kibaek M, Taylor JC, Sullivan J, Shashi V, Petrovski S, Fagerberg C, Martin DM, van Gassen KLI, Pfundt R, Falk MJ, McCormick EM, Timmers HTM, van Hasselt PM TITLE De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia. JOURNAL Am J Hum Genet 105:283-301 (2019) DOI:10.1016/j.ajhg.2019.06.016 REFERENCE PMID:32142649 AUTHORS Nakazawa Y, Hara Y, Oka Y, Komine O, van den Heuvel D, Guo C, Daigaku Y, Isono M, He Y, Shimada M, Kato K, Jia N, Hashimoto S, Kotani Y, Miyoshi Y, Tanaka M, Sobue A, Mitsutake N, Suganami T, Masuda A, Ohno K, Nakada S, Mashimo T, Yamanaka K, Luijsterburg MS, Ogi T TITLE Ubiquitination of DNA Damage-Stalled RNAPII Promotes Transcription-Coupled Repair. JOURNAL Cell 180:1228-1244.e24 (2020) DOI:10.1016/j.cell.2020.02.010 /// ENTRY 54344v1 Variant NAME DPM3 deficiency GENE DPM3 dolichyl-phosphate mannosyltransferase subunit 3, regulatory [KO:K09659] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 605951 NETWORK nt06015 N-Glycan biosynthesis DISEASE H00118 Congenital disorders of glycosylation type I REFERENCE PMID:19576565 AUTHORS Lefeber DJ, Schonberger J, Morava E, Guillard M, Huyben KM, Verrijp K, Grafakou O, Evangeliou A, Preijers FW, Manta P, Yildiz J, Grunewald S, Spilioti M, van den Elzen C, Klein D, Hess D, Ashida H, Hofsteenge J, Maeda Y, van den Heuvel L, Lammens M, Lehle L, Wevers RA TITLE Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies. JOURNAL Am J Hum Genet 85:76-86 (2009) DOI:10.1016/j.ajhg.2009.06.006 /// ENTRY 54539v1 Variant NAME NDUFB11 mutation GENE NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 [KO:K11351] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 300403 NETWORK nt06529 Thermogenesis DISEASE H00473 Mitochondrial complex I deficiency REFERENCE PMID:30423443 AUTHORS Reinson K, Kovacs-Nagy R, Oiglane-Shlik E, Pajusalu S, Noukas M, Wintjes LT, van den Brandt FCA, Brink M, Acker T, Ahting U, Hahn A, Schanzer A, Haack TB, Rodenburg RJ, Ounap K TITLE Diverse phenotype in patients with complex I deficiency due to mutations in NDUFB11. JOURNAL Eur J Med Genet 62:103572 (2019) DOI:10.1016/j.ejmg.2018.11.006 /// ENTRY 54567v1 Variant NAME DLL4 mutation GENE DLL4 delta like canonical Notch ligand 4 [KO:K06051] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 605185 NETWORK nt06511 NOTCH signaling DISEASE H01413 Adams-Oliver syndrome REFERENCE PMID:35332121 AUTHORS Zhou B, Lin W, Long Y, Yang Y, Zhang H, Wu K, Chu Q TITLE Notch signaling pathway: architecture, disease, and therapeutics. JOURNAL Signal Transduct Target Ther 7:95 (2022) DOI:10.1038/s41392-022-00934-y /// ENTRY 545v1 Variant NAME ATR mutation GENE ATR ATR serine/threonine kinase [KO:K06640] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 601215 NETWORK nt06506 Double-strand break repair nt06508 Interstrand crosslink repair DISEASE H00992 Seckel syndrome H02576 Familial cutaneous telangiectasia and cancer syndrome REFERENCE PMID:23111928 AUTHORS Mokrani-Benhelli H, Gaillard L, Biasutto P, Le Guen T, Touzot F, Vasquez N, Komatsu J, Conseiller E, Picard C, Gluckman E, Francannet C, Fischer A, Durandy A, Soulier J, de Villartay JP, Cavazzana-Calvo M, Revy P TITLE Primary microcephaly, impaired DNA replication, and genomic instability caused by compound heterozygous ATR mutations. JOURNAL Hum Mutat 34:374-84 (2013) DOI:10.1002/humu.22245 REFERENCE PMID:22341969 AUTHORS Tanaka A, Weinel S, Nagy N, O'Driscoll M, Lai-Cheong JE, Kulp-Shorten CL, Knable A, Carpenter G, Fisher SA, Hiragun M, Yanase Y, Hide M, Callen J, McGrath JA TITLE Germline mutation in ATR in autosomal- dominant oropharyngeal cancer syndrome. JOURNAL Am J Hum Genet 90:511-7 (2012) DOI:10.1016/j.ajhg.2012.01.007 /// ENTRY 54658v1 Variant NAME UGT1A1 polymorphism for poor drug metabolism GENE UGT1A1 UDP glucuronosyltransferase family 1 member A1 [KO:K00699] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION *28 TA repeat dbSNP: rs8175347 VARIATION *37 TA repeat ClinVar: 226028 dbSNP: rs8175347 VARIATION *6 mutation G71R ClinVar: 12280 dbSNP: rs4148323 REFERENCE PMID:26417955 AUTHORS Gammal RS, Court MH, Haidar CE, Iwuchukwu OF, Gaur AH, Alvarellos M, Guillemette C, Lennox JL, Whirl-Carrillo M, Brummel SS, Ratain MJ, Klein TE, Schackman BR, Caudle KE, Haas DW TITLE Clinical Pharmacogenetics Implementation Consortium (CPIC) Guideline for UGT1A1 and Atazanavir Prescribing. JOURNAL Clin Pharmacol Ther 99:363-9 (2016) DOI:10.1002/cpt.269 /// ENTRY 5468v1 Variant NAME PPARG polymorphism GENE PPARG peroxisome proliferator activated receptor gamma [KO:K08530] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION polymorphisms OmimVar: 601487 NETWORK nt06529 Thermogenesis DISEASE H02106 Genetic obesity REFERENCE PMID:22410809 AUTHORS Prakash J, Srivastava N, Awasthi S, Agarwal C, Natu S, Rajpal N, Mittal B TITLE Association of PPAR-gamma gene polymorphisms with obesity and obesity-associated phenotypes in North Indian population. JOURNAL Am J Hum Biol 24:454-9 (2012) DOI:10.1002/ajhb.22245 /// ENTRY 546v1 Variant NAME ATRX mutation GENE ATRX ATRX chromatin remodeler [KO:K10779] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 300032 NETWORK nt06512 Chromosome cohesion and segregation DISEASE H01752 ATR-X syndrome H02583 X-linked intellectual disability-hypotonic facies syndrome REFERENCE PMID:7697714 AUTHORS Gibbons RJ, Picketts DJ, Villard L, Higgs DR TITLE Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome). JOURNAL Cell 80:837-45 (1995) DOI:10.1016/0092-8674(95)90287-2 REFERENCE PMID:18227278 AUTHORS Ritchie K, Seah C, Moulin J, Isaac C, Dick F, Berube NG TITLE Loss of ATRX leads to chromosome cohesion and congression defects. JOURNAL J Cell Biol 180:315-24 (2008) DOI:10.1083/jcb.200706083 /// ENTRY 54820v1 Variant NAME NDE1 mutation GENE NDE1 nudE neurodevelopment protein 1 [KO:K16738] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 609449 NETWORK nt06515 Regulation of kinetochore-microtubule interactions DISEASE H00268 Lissencephaly H01870 Microhydranencephaly REFERENCE PMID:21529752 AUTHORS Bakircioglu M, Carvalho OP, Khurshid M, Cox JJ, Tuysuz B, Barak T, Yilmaz S, Caglayan O, Dincer A, Nicholas AK, Quarrell O, Springell K, Karbani G, Malik S, Gannon C, Sheridan E, Crosier M, Lisgo SN, Lindsay S, Bilguvar K, Gergely F, Gunel M, Woods CG TITLE The essential role of centrosomal NDE1 in human cerebral cortex neurogenesis. JOURNAL Am J Hum Genet 88:523-35 (2011) DOI:10.1016/j.ajhg.2011.03.019 /// ENTRY 54840v1 Variant NAME APTX mutation GENE APTX aprataxin [KO:K10863] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 606350 NETWORK nt06504 Base excision repair DISEASE H00848 Ataxia with ocular apraxia REFERENCE PMID:12196655 AUTHORS Shimazaki H, Takiyama Y, Sakoe K, Ikeguchi K, Niijima K, Kaneko J, Namekawa M, Ogawa T, Date H, Tsuji S, Nakano I, Nishizawa M TITLE Early-onset ataxia with ocular motor apraxia and hypoalbuminemia: the aprataxin gene mutations. JOURNAL Neurology 59:590-5 (2002) DOI:10.1212/wnl.59.4.590 REFERENCE PMID:29934293 AUTHORS Tumbale P, Schellenberg MJ, Mueller GA, Fairweather E, Watson M, Little JN, Krahn J, Waddell I, London RE, Williams RS TITLE Mechanism of APTX nicked DNA sensing and pleiotropic inactivation in neurodegenerative disease. JOURNAL EMBO J 37:e98875 (2018) DOI:10.15252/embj.201798875 /// ENTRY 54872v1 Variant NAME PIGG deficiency GENE PIGG phosphatidylinositol glycan anchor biosynthesis class G [KO:K05310] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 616918 NETWORK nt06018 GPI-anchor biosynthesis DISEASE H01489 Inherited glycosylphosphatidylinositol deficiencies REFERENCE PMID:26996948 AUTHORS Makrythanasis P, Kato M, Zaki MS, Saitsu H, Nakamura K, Santoni FA, Miyatake S, Nakashima M, Issa MY, Guipponi M, Letourneau A, Logan CV, Roberts N, Parry DA, Johnson CA, Matsumoto N, Hamamy H, Sheridan E, Kinoshita T, Antonarakis SE, Murakami Y TITLE Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia. JOURNAL Am J Hum Genet 98:615-26 (2016) DOI:10.1016/j.ajhg.2016.02.007 /// ENTRY 54880v1 Variant NAME BCOR mutation GENE BCOR BCL6 corepressor [KO:K23215] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 300485 NETWORK nt06523 Epigenetic regulation by Polycomb complexes DISEASE H02170 Microphthalmia, syndromic REFERENCE PMID:19367324 AUTHORS Hilton E, Johnston J, Whalen S, Okamoto N, Hatsukawa Y, Nishio J, Kohara H, Hirano Y, Mizuno S, Torii C, Kosaki K, Manouvrier S, Boute O, Perveen R, Law C, Moore A, Fitzpatrick D, Lemke J, Fellmann F, Debray FG, Dastot-Le-Moal F, Gerard M, Martin J, Bitoun P, Goossens M, Verloes A, Schinzel A, Bartholdi D, Bardakjian T, Hay B, Jenny K, Johnston K, Lyons M, Belmont JW, Biesecker LG, Giurgea I, Black G TITLE BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects. JOURNAL Eur J Hum Genet 17:1325-35 (2009) DOI:10.1038/ejhg.2009.52 /// ENTRY 54892v1 Variant NAME NCAPG2 mutation GENE NCAPG2 non-SMC condensin II complex subunit G2 [KO:K11492] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutaitons OmimVar: 608532 NETWORK nt06512 Chromosome cohesion and segregation DISEASE H02461 Neurodevelopmental disorder with microcephaly REFERENCE PMID:30609410 AUTHORS Khan TN, Khan K, Sadeghpour A, Reynolds H, Perilla Y, McDonald MT, Gallentine WB, Baig SM, Davis EE, Katsanis N TITLE Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies. JOURNAL Am J Hum Genet 104:94-111 (2019) DOI:10.1016/j.ajhg.2018.11.017 /// ENTRY 54936v1 Variant NAME ADPRS mutation GENE ADPRS ADP-ribosylserine hydrolase [KO:K11687] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 610624 NETWORK nt06504 Base excision repair DISEASE H02572 Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures REFERENCE PMID:30401461 AUTHORS Danhauser K, Alhaddad B, Makowski C, Piekutowska-Abramczuk D, Syrbe S, Gomez-Ospina N, Manning MA, Kostera-Pruszczyk A, Krahn-Peper C, Berutti R, Kovacs-Nagy R, Gusic M, Graf E, Laugwitz L, Roblitz M, Wroblewski A, Hartmann H, Das AM, Bultmann E, Fang F, Xu M, Schatz UA, Karall D, Zellner H, Haberlandt E, Feichtinger RG, Mayr JA, Meitinger T, Prokisch H, Strom TM, Ploski R, Hoffmann GF, Pronicki M, Bonnen PE, Morlot S, Haack TB TITLE Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy. JOURNAL Am J Hum Genet 103:817-825 (2018) DOI:10.1016/j.ajhg.2018.10.005 REFERENCE PMID:32636369 AUTHORS Hanzlikova H, Prokhorova E, Krejcikova K, Cihlarova Z, Kalasova I, Kubovciak J, Sachova J, Hailstone R, Brazina J, Ghosh S, Cirak S, Gleeson JG, Ahel I, Caldecott KW TITLE Pathogenic ARH3 mutations result in ADP-ribose chromatin scars during DNA strand break repair. JOURNAL Nat Commun 11:3391 (2020) DOI:10.1038/s41467-020-17069-9 /// ENTRY 54941v1 Variant NAME RNF125 mutation GENE RNF125 ring finger protein 125 [KO:K12170] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 610432 NETWORK nt06519 RLR signaling DISEASE H01806 Tenorio syndrome REFERENCE PMID:25196541 AUTHORS Tenorio J, Mansilla A, Valencia M, Martinez-Glez V, Romanelli V, Arias P, Castrejon N, Poletta F, Guillen-Navarro E, Gordo G, Mansilla E, Garcia-Santiago F, Gonzalez-Casado I, Vallespin E, Palomares M, Mori MA, Santos-Simarro F, Garcia-Minaur S, Fernandez L, Mena R, Benito-Sanz S, del Pozo A, Silla JC, Ibanez K, Lopez-Granados E, Martin-Trujillo A, Montaner D, Heath KE, Campos-Barros A, Dopazo J, Nevado J, Monk D, Ruiz-Perez VL, Lapunzina P TITLE A new overgrowth syndrome is due to mutations in RNF125. JOURNAL Hum Mutat 35:1436-41 (2014) DOI:10.1002/humu.22689 /// ENTRY 5498v1 Variant NAME PPOX deficiency GENE PPOX protoporphyrinogen oxidase [KO:K00231] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 600923 NETWORK nt06011 Heme biosynthesis DISEASE H01763 Porphyria REFERENCE PMID:8852667 AUTHORS Deybach JC, Puy H, Robreau AM, Lamoril J, Da Silva V, Grandchamp B, Nordmann Y TITLE Mutations in the protoporphyrinogen oxidase gene in patients with variegate porphyria. JOURNAL Hum Mol Genet 5:407-10 (1996) DOI:10.1093/hmg/5.3.407 /// ENTRY 549v1 Variant NAME AUH deficiency GENE AUH AU RNA binding methylglutaconyl-CoA hydratase [KO:K05607] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 600529 NETWORK nt06024 Valine, leucine and isoleucine degradation DISEASE H00754 3-Methylglutaconic aciduria REFERENCE PMID:12434311 AUTHORS IJlst L, Loupatty FJ, Ruiter JP, Duran M, Lehnert W, Wanders RJ TITLE 3-Methylglutaconic aciduria type I is caused by mutations in AUH. JOURNAL Am J Hum Genet 71:1463-6 (2002) DOI:10.1086/344712 /// ENTRY 5500v1 Variant NAME PPP1CB mutation GENE PPP1CB protein phosphatase 1 catalytic subunit beta [KO:K06269] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 600590 NETWORK nt06515 Regulation of kinetochore-microtubule interactions nt06526 MAPK signaling DISEASE H02191 Noonan-like syndrome with loose anagen hair REFERENCE PMID:27681385 AUTHORS Ma L, Bayram Y, McLaughlin HM, Cho MT, Krokosky A, Turner CE, Lindstrom K, Bupp CP, Mayberry K, Mu W, Bodurtha J, Weinstein V, Zadeh N, Alcaraz W, Powis Z, Shao Y, Scott DA, Lewis AM, White JJ, Jhangiani SN, Gulec EY, Lalani SR, Lupski JR, Retterer K, Schnur RE, Wentzensen IM, Bale S, Chung WK TITLE De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease. JOURNAL Hum Genet 135:1399-1409 (2016) DOI:10.1007/s00439-016-1731-1 REFERENCE PMID:36394128 AUTHORS Tartaglia M, Aoki Y, Gelb BD TITLE The molecular genetics of RASopathies: An update on novel disease genes and new disorders. JOURNAL Am J Med Genet C Semin Med Genet 190:425-439 (2022) DOI:10.1002/ajmg.c.32012 /// ENTRY 55012v1 Variant NAME PPP2R3C mutation GENE PPP2R3C protein phosphatase 2 regulatory subunit B''gamma [KO:K11583] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 615902 NETWORK nt06530 PI3K signaling DISEASE H01282 Spermatogenic failure REFERENCE PMID:34714774 AUTHORS Cicek D, Warr N, Yesil G, Kocak Eker H, Bas F, Poyrazoglu S, Darendeliler F, Direk G, Hatipoglu N, Eltan M, Yavas Abali Z, Gurpinar Tosun B, Kaygusuz SB, Seven Menevse T, Helvacioglu D, Turan S, Bereket A, Reeves R, Simon M, Mackenzie M, Teboul L, Greenfield A, Guran T TITLE Broad-spectrum XX and XY gonadal dysgenesis in patients with a homozygous L193S variant in PPP2R3C. JOURNAL Eur J Endocrinol 186:65-72 (2021) DOI:10.1530/EJE-21-0910 /// ENTRY 55034v1 Variant NAME MOCOS deficiency GENE MOCOS molybdenum cofactor sulfurase [KO:K15631] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 613274 NETWORK nt06025 Molybdenum cofactor biosynthesis DISEASE H00192 Xanthinuria REFERENCE PMID:11302742 AUTHORS Ichida K, Matsumura T, Sakuma R, Hosoya T, Nishino T TITLE Mutation of human molybdenum cofactor sulfurase gene is responsible for classical xanthinuria type II. JOURNAL Biochem Biophys Res Commun 282:1194-200 (2001) DOI:10.1006/bbrc.2001.4719 /// ENTRY 55054v1 Variant NAME ATG16L1 mutation GENE ATG16L1 autophagy related 16 like 1 [KO:K17890] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 610767 NETWORK nt06532 Autophagy DISEASE H01227 Inflammatory bowel disease (IBD) REFERENCE PMID:25906181 AUTHORS Salem M, Ammitzboell M, Nys K, Seidelin JB, Nielsen OH TITLE ATG16L1: A multifunctional susceptibility factor in Crohn disease. JOURNAL Autophagy 11:585-94 (2015) DOI:10.1080/15548627.2015.1017187 REFERENCE PMID:31277291 AUTHORS Khandia R, Dadar M, Munjal A, Dhama K, Karthik K, Tiwari R, Yatoo MI, Iqbal HMN, Singh KP, Joshi SK, Chaicumpa W TITLE A Comprehensive Review of Autophagy and Its Various Roles in Infectious, Non-Infectious, and Lifestyle Diseases: Current Knowledge and Prospects for Disease Prevention, Novel Drug Design, and Therapy. JOURNAL Cells 8:cells8070674 (2019) DOI:10.3390/cells8070674 /// ENTRY 55120v1 Variant NAME FANCL mutation GENE FANCL FA complementation group L [KO:K10606] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 608111 NETWORK nt06508 Interstrand crosslink repair DISEASE H00238 Fanconi anemia REFERENCE PMID:25754594 AUTHORS Vetro A, Iascone M, Limongelli I, Ameziane N, Gana S, Della Mina E, Giussani U, Ciccone R, Forlino A, Pezzoli L, Rooimans MA, van Essen AJ, Messa J, Rizzuti T, Bianchi P, Dorsman J, de Winter JP, Lalatta F, Zuffardi O TITLE Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association. JOURNAL Hum Mutat 36:562-8 (2015) DOI:10.1002/humu.22784 /// ENTRY 55135v1 Variant NAME WRAP53 mutation GENE WRAP53 WD repeat containing antisense to TP53 [KO:K23314] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 612661 NETWORK nt06510 Telomere length regulation DISEASE H00507 Dyskeratosis congenita REFERENCE PMID:21205863 AUTHORS Zhong F, Savage SA, Shkreli M, Giri N, Jessop L, Myers T, Chen R, Alter BP, Artandi SE TITLE Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita. JOURNAL Genes Dev 25:11-6 (2011) DOI:10.1101/gad.2006411 /// ENTRY 55159v1 Variant NAME RFWD3 mutation GENE RFWD3 ring finger and WD repeat domain 3 [KO:K15691] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 614151 NETWORK nt06508 Interstrand crosslink repair DISEASE H00238 Fanconi anemia REFERENCE PMID:28691929 AUTHORS Knies K, Inano S, Ramirez MJ, Ishiai M, Surralles J, Takata M, Schindler D TITLE Biallelic mutations in the ubiquitin ligase RFWD3 cause Fanconi anemia. JOURNAL J Clin Invest 127:3013-3027 (2017) DOI:10.1172/JCI92069 /// ENTRY 5515v1 Variant NAME PPP2CA mutation GENE PPP2CA protein phosphatase 2 catalytic subunit alpha [KO:K04382] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 176915 NETWORK nt06512 Chromosome cohesion and segregation nt06530 PI3K signaling DISEASE H02632 PP2A-related neurodevelopmental disorder REFERENCE PMID:30595372 AUTHORS Reynhout S, Jansen S, Haesen D, van Belle S, de Munnik SA, Bongers EMHF, Schieving JH, Marcelis C, Amiel J, Rio M, Mclaughlin H, Ladda R, Sell S, Kriek M, Peeters-Scholte CMPCD, Terhal PA, van Gassen KL, Verbeek N, Henry S, Scott Schwoerer J, Malik S, Revencu N, Ferreira CR, Macnamara E, Braakman HMH, Brimble E, Ruzhnikov MRZ, Wagner M, Harrer P, Wieczorek D, Kuechler A, Tziperman B, Barel O, de Vries BBA, Gordon CT, Janssens V, Vissers LELM TITLE De Novo Mutations Affecting the Catalytic C alpha Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders. JOURNAL Am J Hum Genet 104:139-156 (2019) DOI:10.1016/j.ajhg.2018.12.002 /// ENTRY 5518v1 Variant NAME PPP2R1A mutation GENE PPP2R1A protein phosphatase 2 scaffold subunit Aalpha [KO:K03456] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 605983 NETWORK nt06512 Chromosome cohesion and segregation nt06530 PI3K signaling DISEASE H00773 Autosomal dominant intellectual developmental disorder H02632 PP2A-related neurodevelopmental disorder REFERENCE PMID:33106617 AUTHORS Lenaerts L, Reynhout S, Verbinnen I, Laumonnier F, Toutain A, Bonnet-Brilhault F, Hoorne Y, Joss S, Chassevent AK, Smith-Hicks C, Loeys B, Joset P, Steindl K, Rauch A, Mehta SG, Chung WK, Devriendt K, Holder SE, Jewett T, Baldwin LM, Wilson WG, Towner S, Srivastava S, Johnson HF, Daumer-Haas C, Baethmann M, Ruiz A, Gabau E, Jain V, Varghese V, Al-Beshri A, Fulton S, Wechsberg O, Orenstein N, Prescott K, Childs AM, Faivre L, Moutton S, Sullivan JA, Shashi V, Koudijs SM, Heijligers M, Kivuva E, McTague A, Male A, van Ierland Y, Plecko B, Maystadt I, Hamid R, Hannig VL, Houge G, Janssens V TITLE The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction. JOURNAL Genet Med 23:352-362 (2021) DOI:10.1038/s41436-020-00981-2 REFERENCE PMID:26168268 AUTHORS Houge G, Haesen D, Vissers LE, Mehta S, Parker MJ, Wright M, Vogt J, McKee S, Tolmie JL, Cordeiro N, Kleefstra T, Willemsen MH, Reijnders MR, Berland S, Hayman E, Lahat E, Brilstra EH, van Gassen KL, Zonneveld-Huijssoon E, de Bie CI, Hoischen A, Eichler EE, Holdhus R, Steen VM, Doskeland SO, Hurles ME, FitzPatrick DR, Janssens V TITLE B56delta-related protein phosphatase 2A dysfunction identified in patients with intellectual disability. JOURNAL J Clin Invest 125:3051-62 (2015) DOI:10.1172/JCI79860 /// ENTRY 55191v1 Variant NAME NADSYN1 deficiency GENE NADSYN1 NAD synthetase 1 [KO:K01950] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 608285 NETWORK nt06036 Lysine degradation DISEASE H02087 Vertebral, cardiac, renal, and limb defects syndrome REFERENCE PMID:31883644 AUTHORS Szot JO, Campagnolo C, Cao Y, Iyer KR, Cuny H, Drysdale T, Flores-Daboub JA, Bi W, Westerfield L, Liu P, Leung TN, Choy KW, Chapman G, Xiao R, Siu VM, Dunwoodie SL TITLE Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders. JOURNAL Am J Hum Genet 106:129-136 (2020) DOI:10.1016/j.ajhg.2019.12.006 /// ENTRY 5519v1 Variant NAME PPP2R1B mutation GENE PPP2R1B protein phosphatase 2 scaffold subunit Abeta [KO:K03456] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 603113 NETWORK nt06512 Chromosome cohesion and segregation DISEASE H00013 Small cell lung cancer H00014 Non-small cell lung cancer REFERENCE PMID:9765152 AUTHORS Wang SS, Esplin ED, Li JL, Huang L, Gazdar A, Minna J, Evans GA TITLE Alterations of the PPP2R1B gene in human lung and colon cancer. JOURNAL Science 282:284-7 (1998) DOI:10.1126/science.282.5387.284 /// ENTRY 551v1 Variant NAME AVP mutation GENE AVP arginine vasopressin [KO:K05242] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 192340 NETWORK nt06326 AVP signaling DISEASE H00253 Neurohypophyseal diabetes insipidus REFERENCE PMID:28008190 AUTHORS Arima H, Azuma Y, Morishita Y, Hagiwara D TITLE Central diabetes insipidus. JOURNAL Nagoya J Med Sci 78:349-358 (2016) DOI:10.18999/nagjms.78.4.349 REFERENCE PMID:27156762 AUTHORS Rutishauser J, Spiess M, Kopp P TITLE Genetic forms of neurohypophyseal diabetes insipidus. JOURNAL Best Pract Res Clin Endocrinol Metab 30:249-62 (2016) DOI:10.1016/j.beem.2016.02.008 REFERENCE PMID:21727914 AUTHORS Babey M, Kopp P, Robertson GL TITLE Familial forms of diabetes insipidus: clinical and molecular characteristics. JOURNAL Nat Rev Endocrinol 7:701-14 (2011) DOI:10.1038/nrendo.2011.100 /// ENTRY 55215v1 Variant NAME FANCI mutation GENE FANCI FA complementation group I [KO:K10895] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 611360 NETWORK nt06508 Interstrand crosslink repair DISEASE H00238 Fanconi anemia REFERENCE PMID:17452773 AUTHORS Dorsman JC, Levitus M, Rockx D, Rooimans MA, Oostra AB, Haitjema A, Bakker ST, Steltenpool J, Schuler D, Mohan S, Schindler D, Arwert F, Pals G, Mathew CG, Waisfisz Q, de Winter JP, Joenje H TITLE Identification of the Fanconi anemia complementation group I gene, FANCI. JOURNAL Cell Oncol 29:211-8 (2007) DOI:10.1155/2007/151968 /// ENTRY 5521v1 Variant NAME PPP2R2B mutation GENE PPP2R2B protein phosphatase 2 regulatory subunit Bbeta [KO:K04354] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 604325 NETWORK nt06530 PI3K signaling DISEASE H00773 Autosomal dominant intellectual developmental disorder REFERENCE PMID:26340331 AUTHORS O'Hearn EE, Hwang HS, Holmes SE, Rudnicki DD, Chung DW, Seixas AI, Cohen RL, Ross CA, Trojanowski JQ, Pletnikova O, Troncoso JC, Margolis RL TITLE Neuropathology and Cellular Pathogenesis of Spinocerebellar Ataxia Type 12. JOURNAL Mov Disord 30:1813-1824 (2015) DOI:10.1002/mds.26348 /// ENTRY 55240v1 Variant NAME STEAP3 mutation GENE STEAP3 STEAP3 metalloreductase [KO:K10142] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 609671 NETWORK nt06525 Ferroptosis DISEASE H01196 Hypochromic microcytic anemia REFERENCE PMID:22031863 AUTHORS Grandchamp B, Hetet G, Kannengiesser C, Oudin C, Beaumont C, Rodrigues-Ferreira S, Amson R, Telerman A, Nielsen P, Kohne E, Balser C, Heimpel H TITLE A novel type of congenital hypochromic anemia associated with a nonsense mutation in the STEAP3/TSAP6 gene. JOURNAL Blood 118:6660-6 (2011) DOI:10.1182/blood-2011-01-329011 REFERENCE PMID:35459211 AUTHORS Wu L, Tian X, Zuo H, Zheng W, Li X, Yuan M, Tian X, Song H TITLE miR-124-3p delivered by exosomes from heme oxygenase-1 modified bone marrow mesenchymal stem cells inhibits ferroptosis to attenuate ischemia-reperfusion injury in steatotic grafts. JOURNAL J Nanobiotechnology 20:196 (2022) DOI:10.1186/s12951-022-01407-8 /// ENTRY 55252v1 Variant NAME ASXL2 mutation GENE ASXL2 ASXL transcriptional regulator 2 [KO:K11471] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 612991 NETWORK nt06523 Epigenetic regulation by Polycomb complexes DISEASE H02460 Neurodevelopmental disorder with dysmorphic facies and skeletal anomalies REFERENCE PMID:27693232 AUTHORS Shashi V, Pena LD, Kim K, Burton B, Hempel M, Schoch K, Walkiewicz M, McLaughlin HM, Cho M, Stong N, Hickey SE, Shuss CM, Freemark MS, Bellet JS, Keels MA, Bonner MJ, El-Dairi M, Butler M, Kranz PG, Stumpel CT, Klinkenberg S, Oberndorff K, Alawi M, Santer R, Petrovski S, Kuismin O, Korpi-Heikkila S, Pietilainen O, Aarno P, Kurki MI, Hoischen A, Need AC, Goldstein DB, Kortum F TITLE De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype. JOURNAL Am J Hum Genet 99:991-999 (2016) DOI:10.1016/j.ajhg.2016.08.017 /// ENTRY 5528v1 Variant NAME PPP2R5D mutation GENE PPP2R5D protein phosphatase 2 regulatory subunit B'delta [KO:K11584] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 601646 NETWORK nt06512 Chromosome cohesion and segregation nt06530 PI3K signaling DISEASE H00773 Autosomal dominant intellectual developmental disorder H02632 PP2A-related neurodevelopmental disorder REFERENCE PMID:26168268 AUTHORS Houge G, Haesen D, Vissers LE, Mehta S, Parker MJ, Wright M, Vogt J, McKee S, Tolmie JL, Cordeiro N, Kleefstra T, Willemsen MH, Reijnders MR, Berland S, Hayman E, Lahat E, Brilstra EH, van Gassen KL, Zonneveld-Huijssoon E, de Bie CI, Hoischen A, Eichler EE, Holdhus R, Steen VM, Doskeland SO, Hurles ME, FitzPatrick DR, Janssens V TITLE B56delta-related protein phosphatase 2A dysfunction identified in patients with intellectual disability. JOURNAL J Clin Invest 125:3051-62 (2015) DOI:10.1172/JCI79860 REFERENCE PMID:26576547 AUTHORS Shang L, Henderson LB, Cho MT, Petrey DS, Fong CT, Haude KM, Shur N, Lundberg J, Hauser N, Carmichael J, Innis J, Schuette J, Wu YW, Asaikar S, Pearson M, Folk L, Retterer K, Monaghan KG, Chung WK TITLE De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism. JOURNAL Neurogenetics 17:43-9 (2016) DOI:10.1007/s10048-015-0466-9 /// ENTRY 5530v1 Variant NAME PPP3CA mutation GENE PPP3CA protein phosphatase 3 catalytic subunit alpha [KO:K04348] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 114105 NETWORK nt06528 Calcium signaling DISEASE H00606 Early infantile epileptic encephalopathy H02150 Infantile or early childhood epileptic encephalopathy H02641 Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development REFERENCE PMID:29432562 AUTHORS Mizuguchi T, Nakashima M, Kato M, Okamoto N, Kurahashi H, Ekhilevitch N, Shiina M, Nishimura G, Shibata T, Matsuo M, Ikeda T, Ogata K, Tsuchida N, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Hata K, Kaname T, Matsubara Y, Saitsu H, Matsumoto N TITLE Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders. JOURNAL Hum Mol Genet 27:1421-1433 (2018) DOI:10.1093/hmg/ddy052 /// ENTRY 55343v1 Variant NAME SLC35C1 mutation GENE SLC35C1 solute carrier family 35 member C1 [KO:K15279] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 605881 NETWORK nt06015 N-Glycan biosynthesis nt06035 Blood group carbohydrate antigen biosynthesis DISEASE H00119 Congenital disorders of glycosylation type II REFERENCE PMID:24403049 AUTHORS Dauber A, Ercan A, Lee J, James P, Jacobs PP, Ashline DJ, Wang SR, Miller T, Hirschhorn JN, Nigrovic PA, Sackstein R TITLE Congenital disorder of fucosylation type 2c (LADII) presenting with short stature and developmental delay with minimal adhesion defect. JOURNAL Hum Mol Genet 23:2880-7 (2014) DOI:10.1093/hmg/ddu001 /// ENTRY 55366v1 Variant NAME LGR4 mutation GENE LGR4 leucine rich repeat containing G protein-coupled receptor 4 [KO:K04309] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 606666 NETWORK nt06505 WNT signaling DISEASE H01593 Osteoporosis REFERENCE PMID:35052478 AUTHORS Martinez-Gil N, Ugartondo N, Grinberg D, Balcells S TITLE Wnt Pathway Extracellular Components and Their Essential Roles in Bone Homeostasis. JOURNAL Genes (Basel) 13:138 (2022) DOI:10.3390/genes13010138 REFERENCE PMID:32666024 AUTHORS Doherty L, Sanjay A TITLE LGRs in Skeletal Tissues: An Emerging Role for Wnt-Associated Adult Stem Cell Markers in Bone. JOURNAL JBMR Plus 4:e10380 (2020) DOI:10.1002/jbm4.10380 /// ENTRY 55388v1 Variant NAME MCM10 mutation GENE MCM10 minichromosome maintenance 10 replication initiation factor [KO:K10736] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 609357 NETWORK nt06509 DNA replication DISEASE H02525 Disorders of innate immunity REFERENCE PMID:33712616 AUTHORS Baxley RM, Leung W, Schmit MM, Matson JP, Yin L, Oram MK, Wang L, Taylor J, Hedberg J, Rogers CB, Harvey AJ, Basu D, Taylor JC, Pagnamenta AT, Dreau H, Craft J, Ormondroyd E, Watkins H, Hendrickson EA, Mace EM, Orange JS, Aihara H, Stewart GS, Blair E, Cook JG, Bielinsky AK TITLE Bi-allelic MCM10 variants associated with immune dysfunction and cardiomyopathy cause telomere shortening. JOURNAL Nat Commun 12:1626 (2021) DOI:10.1038/s41467-021-21878-x REFERENCE PMID:32865517 AUTHORS Mace EM, Paust S, Conte MI, Baxley RM, Schmit MM, Patil SL, Guilz NC, Mukherjee M, Pezzi AE, Chmielowiec J, Tatineni S, Chinn IK, Akdemir ZC, Jhangiani SN, Muzny DM, Stray-Pedersen A, Bradley RE, Moody M, Connor PP, Heaps AG, Steward C, Banerjee PP, Gibbs RA, Borowiak M, Lupski JR, Jolles S, Bielinsky AK, Orange JS TITLE Human NK cell deficiency as a result of biallelic mutations in MCM10. JOURNAL J Clin Invest 130:5272-5286 (2020) DOI:10.1172/JCI134966 /// ENTRY 554v1 Variant NAME AVPR2 mutation GENE AVPR2 arginine vasopressin receptor 2 [KO:K04228] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 300538 NETWORK nt06326 AVP signaling DISEASE H01294 Nephrogenic syndrome of inappropriate antidiuresis REFERENCE PMID:15872203 AUTHORS Feldman BJ, Rosenthal SM, Vargas GA, Fenwick RG, Huang EA, Matsuda-Abedini M, Lustig RH, Mathias RS, Portale AA, Miller WL, Gitelman SE TITLE Nephrogenic syndrome of inappropriate antidiuresis. JOURNAL N Engl J Med 352:1884-90 (2005) DOI:10.1056/NEJMoa042743 REFERENCE PMID:29546600 AUTHORS Bardanzellu F, Pintus MC, Masile V, Fanos V, Marcialis MA TITLE Focus on neonatal and infantile onset of nephrogenic syndrome of inappropriate antidiuresis: 12 years later. JOURNAL Pediatr Nephrol 34:763-775 (2019) DOI:10.1007/s00467-018-3922-6 REFERENCE PMID:26131744 AUTHORS Erdelyi LS, Mann WA, Morris-Rosendahl DJ, Gross U, Nagel M, Varnai P, Balla A, Hunyady L TITLE Mutation in the V2 vasopressin receptor gene, AVPR2, causes nephrogenic syndrome of inappropriate diuresis. JOURNAL Kidney Int 88:1070-8 (2015) DOI:10.1038/ki.2015.181 /// ENTRY 55505v1 Variant NAME NOP10 mutation GENE NOP10 NOP10 ribonucleoprotein [KO:K11130] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 606471 NETWORK nt06510 Telomere length regulation DISEASE H00507 Dyskeratosis congenita H02569 Pulmonary fibrosis and/or bone marrow failure, telomere-related REFERENCE PMID:17507419 AUTHORS Walne AJ, Vulliamy T, Marrone A, Beswick R, Kirwan M, Masunari Y, Al-Qurashi FH, Aljurf M, Dokal I TITLE Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10. JOURNAL Hum Mol Genet 16:1619-29 (2007) DOI:10.1093/hmg/ddm111 /// ENTRY 55526v1 Variant NAME DHTKD1 deficiency GENE DHTKD1 dehydrogenase E1 and transketolase domain containing 1 [KO:K15791] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 614984 NETWORK nt06036 Lysine degradation DISEASE H02644 Alpha-aminoadipic and alpha-ketoadipic aciduria REFERENCE PMID:23141293 AUTHORS Danhauser K, Sauer SW, Haack TB, Wieland T, Staufner C, Graf E, Zschocke J, Strom TM, Traub T, Okun JG, Meitinger T, Hoffmann GF, Prokisch H, Kolker S TITLE DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria. JOURNAL Am J Hum Genet 91:1082-7 (2012) DOI:10.1016/j.ajhg.2012.10.006 /// ENTRY 5557v1 Variant NAME PRIM1 mutation GENE PRIM1 DNA primase subunit 1 [KO:K02684] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 176635 NETWORK nt06509 DNA replication DISEASE H02625 Primordial dwarfism-immunodeficiency-lipodystrophy syndrome REFERENCE PMID:33060134 AUTHORS Parry DA, Tamayo-Orrego L, Carroll P, Marsh JA, Greene P, Murina O, Uggenti C, Leitch A, Kaposzta R, Mero G, Nagy A, Orlik B, Kovacs-Paszthy B, Quigley AJ, Riszter M, Rankin J, Reijns MAM, Szakszon K, Jackson AP TITLE PRIM1 deficiency causes a distinctive primordial dwarfism syndrome. JOURNAL Genes Dev 34:1520-1533 (2020) DOI:10.1101/gad.340190.120 /// ENTRY 55596v1 Variant NAME ZCCHC8 mutation GENE ZCCHC8 zinc finger CCHC-type containing 8 [KO:K13128] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 616381 NETWORK nt06510 Telomere length regulation DISEASE H02569 Pulmonary fibrosis and/or bone marrow failure, telomere-related REFERENCE PMID:31488579 AUTHORS Gable DL, Gaysinskaya V, Atik CC, Talbot CC Jr, Kang B, Stanley SE, Pugh EW, Amat-Codina N, Schenk KM, Arcasoy MO, Brayton C, Florea L, Armanios M TITLE ZCCHC8, the nuclear exosome targeting component, is mutated in familial pulmonary fibrosis and is required for telomerase RNA maturation. JOURNAL Genes Dev 33:1381-1396 (2019) DOI:10.1101/gad.326785.119 /// ENTRY 55624v1 Variant NAME POMGNT1 deficiency GENE POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) [KO:K09666] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 606822 NETWORK nt06013 O-Glycan biosynthesis DISEASE H02307 Muscular dystrophy-dystroglycanopathy REFERENCE PMID:12588800 AUTHORS Taniguchi K, Kobayashi K, Saito K, Yamanouchi H, Ohnuma A, Hayashi YK, Manya H, Jin DK, Lee M, Parano E, Falsaperla R, Pavone P, Van Coster R, Talim B, Steinbrecher A, Straub V, Nishino I, Topaloglu H, Voit T, Endo T, Toda T TITLE Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease. JOURNAL Hum Mol Genet 12:527-34 (2003) DOI:10.1093/hmg/ddg043 /// ENTRY 55650v1 Variant NAME PIGV deficiency GENE PIGV phosphatidylinositol glycan anchor biosynthesis class V [KO:K07542] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 610274 NETWORK nt06018 GPI-anchor biosynthesis DISEASE H01488 Hyperphosphatasia with mental retardation syndrome REFERENCE PMID:21739589 AUTHORS Horn D, Krawitz P, Mannhardt A, Korenke GC, Meinecke P TITLE Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: expanded clinical spectrum. JOURNAL Am J Med Genet A 155A:1917-22 (2011) DOI:10.1002/ajmg.a.34102 /// ENTRY 55651v1 Variant NAME NHP2 mutation GENE NHP2 NHP2 ribonucleoprotein [KO:K11129] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 606470 NETWORK nt06510 Telomere length regulation DISEASE H00507 Dyskeratosis congenita REFERENCE PMID:18523010 AUTHORS Vulliamy T, Beswick R, Kirwan M, Marrone A, Digweed M, Walne A, Dokal I TITLE Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita. JOURNAL Proc Natl Acad Sci U S A 105:8073-8 (2008) DOI:10.1073/pnas.0800042105 /// ENTRY 5566v1 Variant NAME PRKACA mutation GENE PRKACA protein kinase cAMP-activated catalytic subunit alpha [KO:K04345] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutation L206R ClinVar: 91945 dbSNP: rs386352352 NETWORK nt06310 CRH-ACTH-cortisol signaling nt06360 Cushing syndrome DISEASE H01431 Cushing syndrome H02049 Bilateral macronodular adrenal hyperplasia REFERENCE PMID:24571724 AUTHORS Beuschlein F, Fassnacht M, Assie G, Calebiro D, Stratakis CA, Osswald A, Ronchi CL, Wieland T, Sbiera S, Faucz FR, Schaak K, Schmittfull A, Schwarzmayr T, Barreau O, Vezzosi D, Rizk-Rabin M, Zabel U, Szarek E, Salpea P, Forlino A, Vetro A, Zuffardi O, Kisker C, Diener S, Meitinger T, Lohse MJ, Reincke M, Bertherat J, Strom TM, Allolio B TITLE Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndrome. JOURNAL N Engl J Med 370:1019-28 (2014) DOI:10.1056/NEJMoa1310359 REFERENCE PMID:24855271 AUTHORS Sato Y, Maekawa S, Ishii R, Sanada M, Morikawa T, Shiraishi Y, Yoshida K, Nagata Y, Sato-Otsubo A, Yoshizato T, Suzuki H, Shiozawa Y, Kataoka K, Kon A, Aoki K, Chiba K, Tanaka H, Kume H, Miyano S, Fukayama M, Nureki O, Homma Y, Ogawa S TITLE Recurrent somatic mutations underlie corticotropin-independent Cushing's syndrome. JOURNAL Science 344:917-20 (2014) DOI:10.1126/science.1252328 REFERENCE PMID:26004339 AUTHORS Lacroix A, Feelders RA, Stratakis CA, Nieman LK TITLE Cushing's syndrome. JOURNAL Lancet 386:913-27 (2015) DOI:10.1016/S0140-6736(14)61375-1 REFERENCE PMID:26965378 AUTHORS Lodish M, Stratakis CA TITLE A genetic and molecular update on adrenocortical causes of Cushing syndrome. JOURNAL Nat Rev Endocrinol 12:255-62 (2016) DOI:10.1038/nrendo.2016.24 REFERENCE PMID:25425660 AUTHORS Duan K, Gomez Hernandez K, Mete O TITLE Clinicopathological correlates of adrenal Cushing's syndrome. JOURNAL J Clin Pathol 68:175-86 (2015) DOI:10.1136/jclinpath-2014-202612 /// ENTRY 55719v1 Variant NAME SLF2 mutation GENE SLF2 SMC5-SMC6 complex localization factor 2 [KO:K26127] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 610348 NETWORK nt06506 Double-strand break repair DISEASE H02639 Atelis syndrome REFERENCE PMID:36333305 AUTHORS Grange LJ, Reynolds JJ, Ullah F, Isidor B, Shearer RF, Latypova X, Baxley RM, Oliver AW, Ganesh A, Cooke SL, Jhujh SS, McNee GS, Hollingworth R, Higgs MR, Natsume T, Khan T, Martos-Moreno GA, Chupp S, Mathew CG, Parry D, Simpson MA, Nahavandi N, Yuksel Z, Drasdo M, Kron A, Vogt P, Jonasson A, Seth SA, Gonzaga-Jauregui C, Brigatti KW, Stegmann APA, Kanemaki M, Josifova D, Uchiyama Y, Oh Y, Morimoto A, Osaka H, Ammous Z, Argente J, Matsumoto N, Stumpel CTRM, Taylor AMR, Jackson AP, Bielinsky AK, Mailand N, Le Caignec C, Davis EE, Stewart GS TITLE Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy. JOURNAL Nat Commun 13:6664 (2022) DOI:10.1038/s41467-022-34349-8 /// ENTRY 55733v1 Variant NAME HHAT mutation GENE HHAT hedgehog acyltransferase [KO:K24678] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 605743 NETWORK nt06501 HH signaling DISEASE H02479 Nivelon-Nivelon-Mabille syndrome REFERENCE PMID:34518472 AUTHORS Pachernegg S, Georges E, Ayers K TITLE The Desert Hedgehog Signalling Pathway in Human Gonadal Development and Differences of Sex Development. JOURNAL Sex Dev 1-14 (2021) DOI:10.1159/000518308 REFERENCE PMID:23565096 AUTHORS Pan A, Chang L, Nguyen A, James AW TITLE A review of hedgehog signaling in cranial bone development. JOURNAL Front Physiol 4:61 (2013) DOI:10.3389/fphys.2013.00061 /// ENTRY 5573v1 Variant NAME PRKAR1A mutation GENE PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha [KO:K04739] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutation R74C ClinVar: 12674 dbSNP: rs137853303 VARIATION mutation G208Efs ClinVar: 164995 dbSNP: rs727503379 NETWORK nt06310 CRH-ACTH-cortisol signaling nt06360 Cushing syndrome DISEASE H00260 Pigmented micronodular adrenocortical disease H01102 Pituitary adenomas H01431 Cushing syndrome REFERENCE PMID:20301463 AUTHORS Stratakis CA, Salpea P, Raygada M TITLE Carney Complex JOURNAL GeneReviews (1993) REFERENCE PMID:29233839 AUTHORS Bonnet-Serrano F, Bertherat J TITLE Genetics of tumors of the adrenal cortex. JOURNAL Endocr Relat Cancer 25:R131-R152 (2018) DOI:10.1530/ERC-17-0361 REFERENCE PMID:18241045 AUTHORS Greene EL, Horvath AD, Nesterova M, Giatzakis C, Bossis I, Stratakis CA TITLE In vitro functional studies of naturally occurring pathogenic PRKAR1A mutations that are not subject to nonsense mRNA decay. JOURNAL Hum Mutat 29:633-9 (2008) DOI:10.1002/humu.20688 REFERENCE PMID:10974026 AUTHORS Casey M, Vaughan CJ, He J, Hatcher CJ, Winter JM, Weremowicz S, Montgomery K, Kucherlapati R, Morton CC, Basson CT TITLE Mutations in the protein kinase A R1alpha regulatory subunit cause familial cardiac myxomas and Carney complex. JOURNAL J Clin Invest 106:R31-8 (2000) DOI:10.1172/JCI10841 /// ENTRY 55753v1 Variant NAME OGDHL mutation GENE OGDHL oxoglutarate dehydrogenase L [KO:K00164] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 617513 NETWORK nt06031 Citrate cycle and pyruvate metabolism DISEASE H02562 Yoon-Bellen neurodevelopmental syndrome REFERENCE PMID:34800363 AUTHORS Yap ZY, Efthymiou S, Seiffert S, Vargas Parra K, Lee S, Nasca A, Maroofian R, Schrauwen I, Pendziwiat M, Jung S, Bhoj E, Striano P, Mankad K, Vona B, Cuddapah S, Wagner A, Alvi JR, Davoudi-Dehaghani E, Fallah MS, Gannavarapu S, Lamperti C, Legati A, Murtaza BN, Nadeem MS, Rehman MU, Saeidi K, Salpietro V, von Spiczak S, Sandoval A, Zeinali S, Zeviani M, Reich A, Jang C, Helbig I, Barakat TS, Ghezzi D, Leal SM, Weber Y, Houlden H, Yoon WH TITLE Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia. JOURNAL Am J Hum Genet 108:2368-2384 (2021) DOI:10.1016/j.ajhg.2021.11.003 /// ENTRY 55755v1 Variant NAME CDK5RAP2 mutation GENE CDK5RAP2 CDK5 regulatory subunit associated protein 2 [KO:K16542] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 608201 NETWORK nt06515 Regulation of kinetochore-microtubule interactions DISEASE H00269 Primary microcephaly REFERENCE PMID:15793586 AUTHORS Bond J, Roberts E, Springell K, Lizarraga SB, Scott S, Higgins J, Hampshire DJ, Morrison EE, Leal GF, Silva EO, Costa SM, Baralle D, Raponi M, Karbani G, Rashid Y, Jafri H, Bennett C, Corry P, Walsh CA, Woods CG TITLE A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size. JOURNAL Nat Genet 37:353-5 (2005) DOI:10.1038/ng1539 /// ENTRY 55775v1 Variant NAME TDP1 mutation GENE TDP1 tyrosyl-DNA phosphodiesterase 1 [KO:K10862] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 607198 NETWORK nt06504 Base excision repair DISEASE H02573 Autosomal recessive spinocerebellar ataxias with axonal neuropathy REFERENCE PMID:12244316 AUTHORS Takashima H, Boerkoel CF, John J, Saifi GM, Salih MA, Armstrong D, Mao Y, Quiocho FA, Roa BB, Nakagawa M, Stockton DW, Lupski JR TITLE Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy. JOURNAL Nat Genet 32:267-72 (2002) DOI:10.1038/ng987 /// ENTRY 55777v1 Variant NAME MBD5 mutation GENE MBD5 methyl-CpG binding domain protein 5 [KO:K23219] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 611472 NETWORK nt06523 Epigenetic regulation by Polycomb complexes DISEASE H00773 Autosomal dominant intellectual developmental disorder REFERENCE PMID:33427406 AUTHORS Le TNU, Ha TMT TITLE MBD5-related intellectual disability in a Vietnamese child. JOURNAL Am J Med Genet A 185:1321-1323 (2021) DOI:10.1002/ajmg.a.62077 /// ENTRY 55790v1 Variant NAME CSGALNACT1 mutation GENE CSGALNACT1 chondroitin sulfate N-acetylgalactosaminyltransferase 1 [KO:K00746] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 616615 NETWORK nt06029 Glycosaminoglycan biosynthesis DISEASE H02551 Skeletal dysplasia with joint laxity and advanced bone age REFERENCE PMID:27599773 AUTHORS Vodopiutz J, Mizumoto S, Lausch E, Rossi A, Unger S, Janocha N, Costantini R, Seidl R, Greber-Platzer S, Yamada S, Muller T, Jilma B, Ganger R, Superti-Furga A, Ikegawa S, Sugahara K, Janecke AR TITLE Chondroitin Sulfate N-acetylgalactosaminyltransferase-1 (CSGalNAcT-1) Deficiency Results in a Mild Skeletal Dysplasia and Joint Laxity. JOURNAL Hum Mutat 38:34-38 (2017) DOI:10.1002/humu.23070 /// ENTRY 55823v1 Variant NAME VPS11 mutation GENE VPS11 VPS11 core subunit of CORVET and HOPS complexes [KO:K20179] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 608549 NETWORK nt06532 Autophagy DISEASE H00679 Hypomyelinating leukodystrophy H00831 Primary dystonia REFERENCE PMID:27120463 AUTHORS Zhang J, Lachance V, Schaffner A, Li X, Fedick A, Kaye LE, Liao J, Rosenfeld J, Yachelevich N, Chu ML, Mitchell WG, Boles RG, Moran E, Tokita M, Gorman E, Bagley K, Zhang W, Xia F, Leduc M, Yang Y, Eng C, Wong LJ, Schiffmann R, Diaz GA, Kornreich R, Thummel R, Wasserstein M, Yue Z, Edelmann L TITLE A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects. JOURNAL PLoS Genet 12:e1005848 (2016) DOI:10.1371/journal.pgen.1005848 REFERENCE PMID:33452836 AUTHORS Monfrini E, Cogiamanian F, Salani S, Straniero L, Fagiolari G, Garbellini M, Carsana E, Borellini L, Biella F, Moggio M, Bresolin N, Corti S, Duga S, Comi GP, Aureli M, Di Fonzo A TITLE A Novel Homozygous VPS11 Variant May Cause Generalized Dystonia. JOURNAL Ann Neurol 89:834-839 (2021) DOI:10.1002/ana.26021 REFERENCE PMID:32087199 AUTHORS Zatyka M, Sarkar S, Barrett T TITLE Autophagy in Rare (NonLysosomal) Neurodegenerative Diseases. JOURNAL J Mol Biol 432:2735-2753 (2020) DOI:10.1016/j.jmb.2020.02.012 /// ENTRY 5582v1 Variant NAME PRKCG inactivating mutation GENE PRKCG protein kinase C gamma [KO:K19663] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutation H101Y ClinVar: 13244 dbSNP: rs121918511 VARIATION mutation S119P ClinVar: 13245 dbSNP: rs121918512 VARIATION mutation G128D ClinVar: 13246 dbSNP: rs121918513 VARIATION mutation G118D ClinVar: 13247 dbSNP: rs121918514 NETWORK nt06462 Spinocerebellar ataxia nt06466 Pathways of neurodegeneration nt06528 Calcium signaling DISEASE H00063 Spinocerebellar ataxia (SCA) REFERENCE PMID:18499672 AUTHORS Adachi N, Kobayashi T, Takahashi H, Kawasaki T, Shirai Y, Ueyama T, Matsuda T, Seki T, Sakai N, Saito N TITLE Enzymological analysis of mutant protein kinase Cgamma causing spinocerebellar ataxia type 14 and dysfunction in Ca2+ homeostasis. JOURNAL J Biol Chem 283:19854-63 (2008) DOI:10.1074/jbc.M801492200 REFERENCE PMID:17659643 AUTHORS Nolte D, Klebe S, Baron R, Deuschl G, Muller U TITLE Codon 101 of PRKCG, a preferential mutation site in SCA14. JOURNAL Mov Disord 22:1831-2 (2007) DOI:10.1002/mds.21654 REFERENCE PMID:12644968 AUTHORS Chen DH, Brkanac Z, Verlinde CL, Tan XJ, Bylenok L, Nochlin D, Matsushita M, Lipe H, Wolff J, Fernandez M, Cimino PJ, Bird TD, Raskind WH TITLE Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia. JOURNAL Am J Hum Genet 72:839-49 (2003) DOI:10.1086/373883 REFERENCE PMID:17343273 AUTHORS Visser JE, Bloem BR, van de Warrenburg BP TITLE PRKCG mutation (SCA-14) causing a Ramsay Hunt phenotype. JOURNAL Mov Disord 22:1024-6 (2007) DOI:10.1002/mds.21414 /// ENTRY 5582v2 Variant NAME PRKCG activating mutation GENE PRKCG protein kinase C gamma [KO:K19663] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutation H101Q ClinVar: 13251 dbSNP: rs121918518 VARIATION mutation S361G ClinVar: 13250 dbSNP: rs121918517 VARIATION mutation F643L ClinVar: 13249 dbSNP: rs121918516 NETWORK nt06462 Spinocerebellar ataxia nt06466 Pathways of neurodegeneration nt06528 Calcium signaling DISEASE H00063 Spinocerebellar ataxia (SCA) REFERENCE PMID:18499672 AUTHORS Adachi N, Kobayashi T, Takahashi H, Kawasaki T, Shirai Y, Ueyama T, Matsuda T, Seki T, Sakai N, Saito N TITLE Enzymological analysis of mutant protein kinase Cgamma causing spinocerebellar ataxia type 14 and dysfunction in Ca2+ homeostasis. JOURNAL J Biol Chem 283:19854-63 (2008) DOI:10.1074/jbc.M801492200 REFERENCE PMID:30249303 AUTHORS Wong MMK, Hoekstra SD, Vowles J, Watson LM, Fuller G, Nemeth AH, Cowley SA, Ansorge O, Talbot K, Becker EBE TITLE Neurodegeneration in SCA14 is associated with increased PKCgamma kinase activity, mislocalization and aggregation. JOURNAL Acta Neuropathol Commun 6:99 (2018) DOI:10.1186/s40478-018-0600-7 REFERENCE PMID:15824357 AUTHORS Chen DH, Cimino PJ, Ranum LP, Zoghbi HY, Yabe I, Schut L, Margolis RL, Lipe HP, Feleke A, Matsushita M, Wolff J, Morgan C, Lau D, Fernandez M, Sasaki H, Raskind WH, Bird TD TITLE The clinical and genetic spectrum of spinocerebellar ataxia 14. JOURNAL Neurology 64:1258-60 (2005) DOI:10.1212/01.WNL.0000156801.64549.6B REFERENCE PMID:16193476 AUTHORS Klebe S, Durr A, Rentschler A, Hahn-Barma V, Abele M, Bouslam N, Schols L, Jedynak P, Forlani S, Denis E, Dussert C, Agid Y, Bauer P, Globas C, Wullner U, Brice A, Riess O, Stevanin G TITLE New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14. JOURNAL Ann Neurol 58:720-9 (2005) DOI:10.1002/ana.20628 /// ENTRY 55851v1 Variant NAME PSENEN mutation GENE PSENEN presenilin enhancer, gamma-secretase subunit [KO:K06170] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 607632 NETWORK nt06511 NOTCH signaling DISEASE H00681 Acne inversa REFERENCE PMID:20929727 AUTHORS Wang B, Yang W, Wen W, Sun J, Su B, Liu B, Ma D, Lv D, Wen Y, Qu T, Chen M, Sun M, Shen Y, Zhang X TITLE Gamma-secretase gene mutations in familial acne inversa. JOURNAL Science 330:1065 (2010) DOI:10.1126/science.1196284 /// ENTRY 55869v1 Variant NAME HDAC8 mutation GENE HDAC8 histone deacetylase 8 [KO:K11405] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 300269 NETWORK nt06512 Chromosome cohesion and segregation DISEASE H00631 Cornelia de Lange syndrome REFERENCE PMID:22885700 AUTHORS Deardorff MA, Bando M, Nakato R, Watrin E, Itoh T, Minamino M, Saitoh K, Komata M, Katou Y, Clark D, Cole KE, De Baere E, Decroos C, Di Donato N, Ernst S, Francey LJ, Gyftodimou Y, Hirashima K, Hullings M, Ishikawa Y, Jaulin C, Kaur M, Kiyono T, Lombardi PM, Magnaghi-Jaulin L, Mortier GR, Nozaki N, Petersen MB, Seimiya H, Siu VM, Suzuki Y, Takagaki K, Wilde JJ, Willems PJ, Prigent C, Gillessen-Kaesbach G, Christianson DW, Kaiser FJ, Jackson LG, Hirota T, Krantz ID, Shirahige K TITLE HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle. JOURNAL Nature 489:313-7 (2012) DOI:10.1038/nature11316 /// ENTRY 5591v1 Variant NAME DNAPKc mutation GENE PRKDC protein kinase, DNA-activated, catalytic subunit [KO:K06642] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 600899 NETWORK nt06506 Double-strand break repair DISEASE H00092 T-B-Severe combined immunodeficiency REFERENCE PMID:19075392 AUTHORS van der Burg M, Ijspeert H, Verkaik NS, Turul T, Wiegant WW, Morotomi-Yano K, Mari PO, Tezcan I, Chen DJ, Zdzienicka MZ, van Dongen JJ, van Gent DC TITLE A DNA-PKcs mutation in a radiosensitive T-B- SCID patient inhibits Artemis activation and nonhomologous end-joining. JOURNAL J Clin Invest 119:91-8 (2009) DOI:10.1172/JCI37141 /// ENTRY 5594v1 Variant NAME MAPK1 mutation GENE MAPK1 mitogen-activated protein kinase 1 [KO:K04371] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 176948 NETWORK nt06526 MAPK signaling DISEASE H01738 Noonan syndrome REFERENCE PMID:36394128 AUTHORS Tartaglia M, Aoki Y, Gelb BD TITLE The molecular genetics of RASopathies: An update on novel disease genes and new disorders. JOURNAL Am J Med Genet C Semin Med Genet 190:425-439 (2022) DOI:10.1002/ajmg.c.32012 /// ENTRY 55967v1 Variant NAME NDUFA12 mutation GENE NDUFA12 NADH:ubiquinone oxidoreductase subunit A12 [KO:K11352] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 614530 NETWORK nt06529 Thermogenesis DISEASE H00473 Mitochondrial complex I deficiency REFERENCE PMID:21617257 AUTHORS Ostergaard E, Rodenburg RJ, van den Brand M, Thomsen LL, Duno M, Batbayli M, Wibrand F, Nijtmans L TITLE Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome. JOURNAL J Med Genet 48:737-40 (2011) DOI:10.1136/jmg.2011.088856 /// ENTRY 5604v1 Variant NAME MAP2K1 mutation GENE MAP2K1 mitogen-activated protein kinase kinase 1 [KO:K04368] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 176872 NETWORK nt06526 MAPK signaling DISEASE H01745 Cardiofaciocutaneous syndrome H02631 Melorheostosis REFERENCE PMID:36394128 AUTHORS Tartaglia M, Aoki Y, Gelb BD TITLE The molecular genetics of RASopathies: An update on novel disease genes and new disorders. JOURNAL Am J Med Genet C Semin Med Genet 190:425-439 (2022) DOI:10.1002/ajmg.c.32012 REFERENCE PMID:34175492 AUTHORS Riller Q, Rieux-Laucat F TITLE RASopathies: From germline mutations to somatic and multigenic diseases. JOURNAL Biomed J 44:422-432 (2021) DOI:10.1016/j.bj.2021.06.004 /// ENTRY 56052v1 Variant NAME ALG1 deficiency GENE ALG1 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase [KO:K03842] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 605907 NETWORK nt06015 N-Glycan biosynthesis DISEASE H00118 Congenital disorders of glycosylation type I REFERENCE PMID:14973782 AUTHORS Kranz C, Denecke J, Lehle L, Sohlbach K, Jeske S, Meinhardt F, Rossi R, Gudowius S, Marquardt T TITLE Congenital disorder of glycosylation type Ik (CDG-Ik): a defect of mannosyltransferase I. JOURNAL Am J Hum Genet 74:545-51 (2004) DOI:10.1086/382493 /// ENTRY 5605v1 Variant NAME MAP2K2 mutation GENE MAP2K2 mitogen-activated protein kinase kinase 2 [KO:K04369] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 601263 NETWORK nt06526 MAPK signaling DISEASE H01745 Cardiofaciocutaneous syndrome REFERENCE PMID:36394128 AUTHORS Tartaglia M, Aoki Y, Gelb BD TITLE The molecular genetics of RASopathies: An update on novel disease genes and new disorders. JOURNAL Am J Med Genet C Semin Med Genet 190:425-439 (2022) DOI:10.1002/ajmg.c.32012 /// ENTRY 56160v1 Variant NAME NSMCE3 mutation GENE NSMCE3 NSE3 homolog, SMC5-SMC6 complex component [KO:K22823] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 608243 NETWORK nt06506 Double-strand break repair DISEASE H00094 Immunodeficiency associated with DNA repair defects REFERENCE PMID:27427983 AUTHORS van der Crabben SN, Hennus MP, McGregor GA, Ritter DI, Nagamani SC, Wells OS, Harakalova M, Chinn IK, Alt A, Vondrova L, Hochstenbach R, van Montfrans JM, Terheggen-Lagro SW, van Lieshout S, van Roosmalen MJ, Renkens I, Duran K, Nijman IJ, Kloosterman WP, Hennekam E, Orange JS, van Hasselt PM, Wheeler DA, Palecek JJ, Lehmann AR, Oliver AW, Pearl LH, Plon SE, Murray JM, van Haaften G TITLE Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease. JOURNAL J Clin Invest 126:2881-92 (2016) DOI:10.1172/JCI82890 /// ENTRY 5618v1 Variant NAME PRLR mutation GENE PRLR prolactin receptor [KO:K05081] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 176761 NETWORK nt06325 PRL signaling DISEASE H01388 Hyperprolactinemia REFERENCE PMID:24195502 AUTHORS Newey PJ, Gorvin CM, Cleland SJ, Willberg CB, Bridge M, Azharuddin M, Drummond RS, van der Merwe PA, Klenerman P, Bountra C, Thakker RV TITLE Mutant prolactin receptor and familial hyperprolactinemia. JOURNAL N Engl J Med 369:2012-20 (2013) DOI:10.1056/NEJMoa1307557 REFERENCE PMID:12370275 AUTHORS Schuff KG, Hentges ST, Kelly MA, Binart N, Kelly PA, Iuvone PM, Asa SL, Low MJ TITLE Lack of prolactin receptor signaling in mice results in lactotroph proliferation and prolactinomas by dopamine-dependent and -independent mechanisms. JOURNAL J Clin Invest 110:973-81 (2002) DOI:10.1172/JCI15912 /// ENTRY 5621v1 Variant NAME PRNP scrapie conformation GENE PRNP prion protein [KO:K05634] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 176640 VARIATION infectious origin VARIATION sporadic manifestation NETWORK nt06465 Prion disease nt06466 Pathways of neurodegeneration nt06534 Unfolded protein response DISEASE H00061 Prion disease REFERENCE PMID:11592845 AUTHORS Chiesa R, Harris DA TITLE Prion diseases: what is the neurotoxic molecule? JOURNAL Neurobiol Dis 8:743-63 (2001) DOI:10.1006/nbdi.2001.0433 REFERENCE PMID:11283320 AUTHORS Collinge J TITLE Prion diseases of humans and animals: their causes and molecular basis. JOURNAL Annu Rev Neurosci 24:519-50 (2001) DOI:10.1146/annurev.neuro.24.1.519 REFERENCE PMID:30147320 AUTHORS Bagyinszky E, Giau VV, Youn YC, An SSA, Kim S TITLE Characterization of mutations in PRNP (prion) gene and their possible roles in neurodegenerative diseases. JOURNAL Neuropsychiatr Dis Treat 14:2067-2085 (2018) DOI:10.2147/NDT.S165445 /// ENTRY 5621v2 Variant NAME PRNP oligomeric conformation GENE PRNP prion protein [KO:K05634] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION oligomer NETWORK nt06465 Prion disease nt06466 Pathways of neurodegeneration DISEASE H00061 Prion disease REFERENCE PMID:17784787 AUTHORS Simoneau S, Rezaei H, Sales N, Kaiser-Schulz G, Lefebvre-Roque M, Vidal C, Fournier JG, Comte J, Wopfner F, Grosclaude J, Schatzl H, Lasmezas CI TITLE In vitro and in vivo neurotoxicity of prion protein oligomers. JOURNAL PLoS Pathog 3:e125 (2007) DOI:10.1371/journal.ppat.0030125 REFERENCE PMID:19052217 AUTHORS Chiesa R, Piccardo P, Biasini E, Ghetti B, Harris DA TITLE Aggregated, wild-type prion protein causes neurological dysfunction and synaptic abnormalities. JOURNAL J Neurosci 28:13258-67 (2008) DOI:10.1523/JNEUROSCI.3109-08.2008 REFERENCE PMID:29261664 AUTHORS Zamponi E, Buratti F, Cataldi G, Caicedo HH, Song Y, Jungbauer LM, LaDu MJ, Bisbal M, Lorenzo A, Ma J, Helguera PR, Morfini GA, Brady ST, Pigino GF TITLE Prion protein inhibits fast axonal transport through a mechanism involving casein kinase 2. JOURNAL PLoS One 12:e0188340 (2017) DOI:10.1371/journal.pone.0188340 /// ENTRY 56246v1 Variant NAME MRAP mutation GENE MRAP melanocortin 2 receptor accessory protein [KO:K22398] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutation M1I ClinVar: 1841 dbSNP: rs80358231 NETWORK nt06310 CRH-ACTH-cortisol signaling DISEASE H00256 Familial glucocorticoid deficiency REFERENCE PMID:18059087 AUTHORS Chan LF, Clark AJ, Metherell LA TITLE Familial glucocorticoid deficiency: advances in the molecular understanding of ACTH action. JOURNAL Horm Res 69:75-82 (2008) DOI:10.1159/000111810 REFERENCE PMID:15654338 AUTHORS Metherell LA, Chapple JP, Cooray S, David A, Becker C, Ruschendorf F, Naville D, Begeot M, Khoo B, Nurnberg P, Huebner A, Cheetham ME, Clark AJ TITLE Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2. JOURNAL Nat Genet 37:166-70 (2005) DOI:10.1038/ng1501 REFERENCE PMID:23279877 AUTHORS Meimaridou E, Hughes CR, Kowalczyk J, Guasti L, Chapple JP, King PJ, Chan LF, Clark AJ, Metherell LA TITLE Familial glucocorticoid deficiency: New genes and mechanisms. JOURNAL Mol Cell Endocrinol 371:195-200 (2013) DOI:10.1016/j.mce.2012.12.010 REFERENCE PMID:17161331 AUTHORS Metherell LA, Chan LF, Clark AJ TITLE The genetics of ACTH resistance syndromes. JOURNAL Best Pract Res Clin Endocrinol Metab 20:547-60 (2006) DOI:10.1016/j.beem.2006.09.002 /// ENTRY 5624v1 Variant NAME PROC mutation GENE PROC protein C, inactivator of coagulation factors Va and VIIIa [KO:K01344] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 612283 NETWORK nt06514 Coagulation cascade DISEASE H00223 Inherited thrombophilia REFERENCE PMID:32623564 AUTHORS Zhang Y, Zhang Z, Shu S, Niu W, Xie W, Wan J, Zhai Z, Wang C TITLE The genetics of venous thromboembolism: a systematic review of thrombophilia families. JOURNAL J Thromb Thrombolysis 51:359-369 (2021) DOI:10.1007/s11239-020-02203-7 REFERENCE PMID:32964666 AUTHORS Do MD, Pham DV, Le LP, Gia Le LH, Minh Tran LB, Dang Huynh MD, Do QM, Vu HA, Nguyen NH, Mai TP TITLE Recurrent PROC and novel PROS1 mutations in Vietnamese patients diagnosed with idiopathic deep venous thrombosis. JOURNAL Int J Lab Hematol 43:266-272 (2021) DOI:10.1111/ijlh.13345 /// ENTRY 5625v1 Variant NAME PRODH deficiency GENE PRODH proline dehydrogenase 1 [KO:K00318] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 606810 NETWORK nt06033 Glycine, serine and arginine metabolism DISEASE H00190 Hyperprolinemia REFERENCE PMID:12217952 AUTHORS Jacquet H, Raux G, Thibaut F, Hecketsweiler B, Houy E, Demilly C, Haouzir S, Allio G, Fouldrin G, Drouin V, Bou J, Petit M, Campion D, Frebourg T TITLE PRODH mutations and hyperprolinemia in a subset of schizophrenic patients. JOURNAL Hum Mol Genet 11:2243-9 (2002) DOI:10.1093/hmg/11.19.2243 /// ENTRY 56270v1 Variant NAME WDR45B mutation GENE WDR45B WD repeat domain 45B [KO:K22991] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 609226 NETWORK nt06532 Autophagy DISEASE H02470 Neurodevelopmental disorder with structural brain abnormalities REFERENCE PMID:33636118 AUTHORS Ji C, Zhao H, Chen D, Zhang H, Zhao YG TITLE beta-propeller proteins WDR45 and WDR45B regulate autophagosome maturation into autolysosomes in neural cells. JOURNAL Curr Biol 31:1666-1677.e6 (2021) DOI:10.1016/j.cub.2021.01.081 /// ENTRY 5627v1 Variant NAME PROS1 mutation GENE PROS1 protein S [KO:K03908] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 176880 NETWORK nt06514 Coagulation cascade DISEASE H00223 Inherited thrombophilia REFERENCE PMID:32623564 AUTHORS Zhang Y, Zhang Z, Shu S, Niu W, Xie W, Wan J, Zhai Z, Wang C TITLE The genetics of venous thromboembolism: a systematic review of thrombophilia families. JOURNAL J Thromb Thrombolysis 51:359-369 (2021) DOI:10.1007/s11239-020-02203-7 REFERENCE PMID:32964666 AUTHORS Do MD, Pham DV, Le LP, Gia Le LH, Minh Tran LB, Dang Huynh MD, Do QM, Vu HA, Nguyen NH, Mai TP TITLE Recurrent PROC and novel PROS1 mutations in Vietnamese patients diagnosed with idiopathic deep venous thrombosis. JOURNAL Int J Lab Hematol 43:266-272 (2021) DOI:10.1111/ijlh.13345 /// ENTRY 5648v1 Variant NAME MASP1 mutation GENE MASP1 MBL associated serine protease 1 [KO:K03992] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 600521 NETWORK nt06513 Complement cascade DISEASE H01887 3MC syndrome REFERENCE PMID:21258343 AUTHORS Rooryck C, Diaz-Font A, Osborn DP, Chabchoub E, Hernandez-Hernandez V, Shamseldin H, Kenny J, Waters A, Jenkins D, Kaissi AA, Leal GF, Dallapiccola B, Carnevale F, Bitner-Glindzicz M, Lees M, Hennekam R, Stanier P, Burns AJ, Peeters H, Alkuraya FS, Beales PL TITLE Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome. JOURNAL Nat Genet 43:197-203 (2011) DOI:10.1038/ng.757 /// ENTRY 5660v1 Variant NAME PSAP deficiency GENE PSAP prosaposin [KO:K12382] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 176801 NETWORK nt06014 Sphingolipid degradation DISEASE H00126 Gaucher disease H00135 Krabbe disease H00423 Sphingolipidosis REFERENCE PMID:11309366 AUTHORS Hulkova H, Cervenkova M, Ledvinova J, Tochackova M, Hrebicek M, Poupetova H, Befekadu A, Berna L, Paton BC, Harzer K, Boor A, Smid F, Elleder M TITLE A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation. JOURNAL Hum Mol Genet 10:927-40 (2001) DOI:10.1093/hmg/10.9.927 /// ENTRY 5663v1 Variant NAME PSEN1 mutation GENE PSEN1 presenilin 1 [KO:K04505] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 104311 NETWORK nt06460 Alzheimer disease nt06466 Pathways of neurodegeneration nt06511 NOTCH signaling nt06534 Unfolded protein response DISEASE H00056 Alzheimer disease H00681 Acne inversa REFERENCE PMID:24121961 AUTHORS Dolzhanskaya N, Gonzalez MA, Sperziani F, Stefl S, Messing J, Wen GY, Alexov E, Zuchner S, Velinov M TITLE A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease. JOURNAL J Alzheimers Dis 39:23-7 (2014) DOI:10.3233/JAD-131340 REFERENCE PMID:11920851 AUTHORS Matsubara-Tsutsui M, Yasuda M, Yamagata H, Nomura T, Taguchi K, Kohara K, Miyoshi K, Miki T TITLE Molecular evidence of presenilin 1 mutation in familial early onset dementia. JOURNAL Am J Med Genet 114:292-8 (2002) DOI:10.1002/ajmg.10250 REFERENCE PMID:15534188 AUTHORS Ataka S, Tomiyama T, Takuma H, Yamashita T, Shimada H, Tsutada T, Kawabata K, Mori H, Miki T TITLE A novel presenilin-1 mutation (Leu85Pro) in early-onset Alzheimer disease with spastic paraparesis. JOURNAL Arch Neurol 61:1773-6 (2004) DOI:10.1001/archneur.61.11.1773 REFERENCE PMID:14557582 AUTHORS Rogaeva E, Bergeron C, Sato C, Moliaka I, Kawarai T, Toulina A, Song YQ, Kolesnikova T, Orlacchio A, Bernardi G, St George-Hyslop PH TITLE PS1 Alzheimer's disease family with spastic paraplegia: the search for a gene modifier. JOURNAL Neurology 61:1005-7 (2003) DOI:10.1212/wnl.61.7.1005 REFERENCE PMID:20929727 AUTHORS Wang B, Yang W, Wen W, Sun J, Su B, Liu B, Ma D, Lv D, Wen Y, Qu T, Chen M, Sun M, Shen Y, Zhang X TITLE Gamma-secretase gene mutations in familial acne inversa. JOURNAL Science 330:1065 (2010) DOI:10.1126/science.1196284 /// ENTRY 5664v1 Variant NAME PSEN2 mutation GENE PSEN2 presenilin 2 [KO:K04522] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 600759 NETWORK nt06460 Alzheimer disease nt06466 Pathways of neurodegeneration DISEASE H00056 Alzheimer disease REFERENCE PMID:26166204 AUTHORS Muchnik C, Olivar N, Dalmasso MC, Azurmendi PJ, Liberczuk C, Morelli L, Brusco LI TITLE Identification of PSEN2 mutation p.N141I in Argentine pedigrees with early-onset familial Alzheimer's disease. JOURNAL Neurobiol Aging 36:2674-7.e1 (2015) DOI:10.1016/j.neurobiolaging.2015.06.011 REFERENCE PMID:7651536 AUTHORS Rogaev EI, Sherrington R, Rogaeva EA, Levesque G, Ikeda M, Liang Y, Chi H, Lin C, Holman K, Tsuda T, et al. TITLE Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene. JOURNAL Nature 376:775-8 (1995) DOI:10.1038/376775a0 REFERENCE PMID:11723295 AUTHORS Lleo A, Blesa R, Gendre J, Castellvi M, Pastor P, Queralt R, Oliva R TITLE A novel presenilin 2 gene mutation (D439A) in a patient with early-onset Alzheimer's disease. JOURNAL Neurology 57:1926-8 (2001) DOI:10.1212/wnl.57.10.1926 REFERENCE PMID:12925374 AUTHORS Ezquerra M, Lleo A, Castellvi M, Queralt R, Santacruz P, Pastor P, Molinuevo JL, Blesa R, Oliva R TITLE A novel mutation in the PSEN2 gene (T430M) associated with variable expression in a family with early-onset Alzheimer disease. JOURNAL Arch Neurol 60:1149-51 (2003) DOI:10.1001/archneur.60.8.1149 /// ENTRY 56922v1 Variant NAME MCCC1 deficiency GENE MCCC1 methylcrotonyl-CoA carboxylase subunit 1 [KO:K01968] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 609010 NETWORK nt06024 Valine, leucine and isoleucine degradation DISEASE H00181 3-Methylcrotonylglycinuria REFERENCE PMID:11181649 AUTHORS Baumgartner MR, Almashanu S, Suormala T, Obie C, Cole RN, Packman S, Baumgartner ER, Valle D TITLE The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. JOURNAL J Clin Invest 107:495-504 (2001) DOI:10.1172/JCI11948 /// ENTRY 57082v1 Variant NAME KNL1 mutation GENE KNL1 kinetochore scaffold 1 [KO:K11542] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 609173 NETWORK nt06515 Regulation of kinetochore-microtubule interactions DISEASE H00269 Primary microcephaly REFERENCE PMID:26626498 AUTHORS Saadi A, Verny F, Siquier-Pernet K, Bole-Feysot C, Nitschke P, Munnich A, Abada-Dendib M, Chaouch M, Abramowicz M, Colleaux L TITLE Refining the phenotype associated with CASC5 mutation. JOURNAL Neurogenetics 17:71-8 (2016) DOI:10.1007/s10048-015-0468-7 /// ENTRY 57192v1 Variant NAME MCOLN1 mutation GENE MCOLN1 mucolipin TRP cation channel 1 [KO:K04992] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 605248 NETWORK nt06528 Calcium signaling DISEASE H00144 Mucolipidosis IV REFERENCE PMID:29770442 AUTHORS Boudewyn LC, Walkley SU TITLE Current concepts in the neuropathogenesis of mucolipidosis type IV. JOURNAL J Neurochem 148:669-689 (2019) DOI:10.1111/jnc.14462 /// ENTRY 5723v1 Variant NAME PSPH deficiency GENE PSPH phosphoserine phosphatase [KO:K01079] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 172480 NETWORK nt06033 Glycine, serine and arginine metabolism DISEASE H02116 Phosphoserine phosphatase deficiency REFERENCE PMID:25080166 AUTHORS Vincent JB, Jamil T, Rafiq MA, Anwar Z, Ayaz M, Hameed A, Nasr T, Naeem F, Khattak NA, Carter M, Ahmed I, John P, Wiame E, Andrade DM, Schaftingen EV, Mir A, Ayub M TITLE Phosphoserine phosphatase (PSPH) gene mutation in an intellectual disability family from Pakistan. JOURNAL Clin Genet 87:296-8 (2015) DOI:10.1111/cge.12445 /// ENTRY 5727v1 Variant NAME PTCH1 mutation GENE PTCH1 patched 1 [KO:K06225] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutation R704* ClinVar: 409162 dbSNP: rs766313615 NETWORK nt06217 HH signaling nt06269 Basal cell carcinoma nt06501 HH signaling DISEASE H00039 Basal cell carcinoma REFERENCE PMID:26950094 AUTHORS Bonilla X, Parmentier L, King B, Bezrukov F, Kaya G, Zoete V, Seplyarskiy VB, Sharpe HJ, McKee T, Letourneau A, Ribaux PG, Popadin K, Basset-Seguin N, Ben Chaabene R, Santoni FA, Andrianova MA, Guipponi M, Garieri M, Verdan C, Grosdemange K, Sumara O, Eilers M, Aifantis I, Michielin O, de Sauvage FJ, Antonarakis SE, Nikolaev SI TITLE Genomic analysis identifies new drivers and progression pathways in skin basal cell carcinoma. JOURNAL Nat Genet 48:398-406 (2016) DOI:10.1038/ng.3525 REFERENCE PMID:25660620 AUTHORS Pandolfi S, Stecca B TITLE Cooperative integration between HEDGEHOG-GLI signalling and other oncogenic pathways: implications for cancer therapy. JOURNAL Expert Rev Mol Med 17:e5 (2015) DOI:10.1017/erm.2015.3 /// ENTRY 5727v2 Variant NAME PTCH1 mutation GENE PTCH1 patched 1 [KO:K06225] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 601309 NETWORK nt06501 HH signaling DISEASE H00267 Holoprosencephaly H00895 Basal cell nevus syndrome REFERENCE PMID:31781166 AUTHORS Sasai N, Toriyama M, Kondo T TITLE Hedgehog Signal and Genetic Disorders. JOURNAL Front Genet 10:1103 (2019) DOI:10.3389/fgene.2019.01103 /// ENTRY 5728v1 Variant NAME PTEN deletion GENE PTEN phosphatase and tensin homolog [KO:K01110] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION PTEN deletion NETWORK nt06214 PI3K signaling nt06267 Small cell lung cancer nt06268 Melanoma nt06273 Glioma nt06530 PI3K signaling DISEASE H00013 Small cell lung cancer H00038 Melanoma H00042 Glioma REFERENCE PMID:12084351 AUTHORS Knobbe CB, Merlo A, Reifenberger G. TITLE Pten signaling in gliomas. JOURNAL Neuro-oncol 4:196-211 (2002) DOI:10.1093/neuonc/4.3.196 REFERENCE PMID:26879021 AUTHORS Li QJ, Cai JQ, Liu CY TITLE Evolving Molecular Genetics of Glioblastoma. JOURNAL Chin Med J (Engl) 129:464-71 (2016) DOI:10.4103/0366-6999.176065 REFERENCE PMID:27883322 AUTHORS Pejkova S, Dzokic G, Tudzarova-Gjorgova S, Panov S TITLE Molecular Biology and Genetic Mechanisms in the Progression of the Malignant Skin Melanoma. JOURNAL Pril (Makedon Akad Nauk Umet Odd Med Nauki) 37:89-97 (2016) DOI:10.1515/prilozi-2016-0021 /// ENTRY 5728v2 Variant NAME PTEN mutation GENE PTEN phosphatase and tensin homolog [KO:K01110] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutation L108P ClinVar: 418436 COSM: 53084 VARIATION mutation R130Q ClinVar: 7829 dbSNP: rs121909229 COSM: 5033 VARIATION mutation L139* ClinVar: 427590 dbSNP: rs1085308048 COSM: 5294 3368150 VARIATION mutation Q298* ClinVar: 187657 dbSNP: rs371387815 COSM: 5156 VARIATION mutation E157* ClinVar: 7814 dbSNP: rs121909220 COSM: 921104 VARIATION mutation D19N ClinVar: 7837 dbSNP: rs121909233 COSM: 5057 VARIATION mutation C211* ClinVar: 7836 dbSNP: rs121909232 COSM: 5306 VARIATION mutation V217I ClinVar: 7838 dbSNP: rs121909234 COSM: 5058 VARIATION mutation R335* ClinVar: 7833 dbSNP: rs121909231 COSM: 5151 VARIATION mutation H123Y ClinVar: 189486 dbSNP: rs786204931 VARIATION mutation G165R ClinVar: 428256 dbSNP: rs587782603 VARIATION mutation Q245* ClinVar: 186396 dbSNP: rs786202918 COSM: 5159 VARIATION mutation S59* ClinVar: 404151 dbSNP: rs1060500116 COSM: 5313 VARIATION mutation R130G ClinVar: 375958 dbSNP: rs121909224 COSM: 5219 VARIATION mutation R233* ClinVar: 7813 dbSNP: rs121909219 COSM: 5154 VARIATION mutation P95L ClinVar: 189403 dbSNP: rs786204856 COSM: 5105 VARIATION mutation M134L COSM: 5204 VARIATION mutation F90S COSM: 5141 VARIATION mutation H93D COSM: 5283 VARIATION mutation D24N ClinVar: 185200 dbSNP: rs786201995 COSM: 5079 VARIATION mutation V255A COSM: 5046 VARIATION mutation G129R ClinVar: 189484 dbSNP: rs786204929 VARIATION mutation S170R ClinVar: 7815 dbSNP: rs121909221 VARIATION mutation K13* COSM: 86063 VARIATION mutation P38S COSM: 5142 VARIATION mutation P38L COSM: 3736937 VARIATION mutation Y76* COSM: 5322 VARIATION mutation C105R COSM: 23625 VARIATION mutation H118L COSM: 3736941 VARIATION mutation T167A COSM: 5052 VARIATION mutation D162V COSM: 1167954 VARIATION mutation G127E COSM: 5143 VARIATION mutation P244S COSM: 5119 VARIATION mutation P339L COSM: 5148 VARIATION mutation K164Rfs ClinVar: 189448 dbSNP: rs786204900 VARIATION mutation K267Rfs ClinVar: 92828 dbSNP: rs121913289 NETWORK nt06214 PI3K signaling nt06263 Hepatocellular carcinoma nt06267 Small cell lung cancer nt06268 Melanoma nt06270 Breast cancer nt06271 Endometrial cancer nt06272 Prostate cancer nt06273 Glioma nt06530 PI3K signaling DISEASE H00013 Small cell lung cancer H00024 Prostate cancer H00026 Endometrial cancer H00031 Breast cancer H00038 Melanoma H00042 Glioma H00048 Hepatocellular carcinoma REFERENCE PMID:9256433 AUTHORS Myers MP, Stolarov JP, Eng C, Li J, Wang SI, Wigler MH, Parsons R, Tonks NK TITLE P-TEN, the tumor suppressor from human chromosome 10q23, is a dual-specificity phosphatase. JOURNAL Proc Natl Acad Sci U S A 94:9052-7 (1997) DOI:10.1073/pnas.94.17.9052 REFERENCE PMID:9072974 AUTHORS Li J, Yen C, Liaw D, Podsypanina K, Bose S, Wang SI, Puc J, Miliaresis C, Rodgers L, McCombie R, Bigner SH, Giovanella BC, Ittmann M, Tycko B, Hibshoosh H, Wigler MH, Parsons R TITLE PTEN, a putative protein tyrosine phosphatase gene mutated in human brain, breast, and prostate cancer. JOURNAL Science 275:1943-7 (1997) DOI:10.1126/science.275.5308.1943 REFERENCE PMID:9307275 AUTHORS Tashiro H, Blazes MS, Wu R, Cho KR, Bose S, Wang SI, Li J, Parsons R, Ellenson LH TITLE Mutations in PTEN are frequent in endometrial carcinoma but rare in other common gynecological malignancies. JOURNAL Cancer Res 57:3935-40 (1997) REFERENCE PMID:10340391 AUTHORS Yao YJ, Ping XL, Zhang H, Chen FF, Lee PK, Ahsan H, Chen CJ, Lee PH, Peacocke M, Santella RM, Tsou HC TITLE PTEN/MMAC1 mutations in hepatocellular carcinomas. JOURNAL Oncogene 18:3181-5 (1999) DOI:10.1038/sj.onc.1202659 /// ENTRY 5728v3 Variant NAME PTEN mutation GENE PTEN phosphatase and tensin homolog [KO:K01110] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 601728 NETWORK nt06530 PI3K signaling DISEASE H01222 Cowden syndrome REFERENCE PMID:27860216 AUTHORS Keppler-Noreuil KM, Parker VE, Darling TN, Martinez-Agosto JA TITLE Somatic overgrowth disorders of the PI3K/AKT/mTOR pathway & therapeutic strategies. JOURNAL Am J Med Genet C Semin Med Genet 172:402-421 (2016) DOI:10.1002/ajmg.c.31531 /// ENTRY 5741v1 Variant NAME PTH mutation GENE PTH parathyroid hormone [KO:K05261] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutation S23P ClinVar: 13758 dbSNP: rs104894272 VARIATION mutation C18R ClinVar: 13756 dbSNP: rs104894271 NETWORK nt06318 CaSR-PTH signaling DISEASE H01862 Hypoparathyroidism REFERENCE PMID:2212001 AUTHORS Arnold A, Horst SA, Gardella TJ, Baba H, Levine MA, Kronenberg HM TITLE Mutation of the signal peptide-encoding region of the preproparathyroid hormone gene in familial isolated hypoparathyroidism. JOURNAL J Clin Invest 86:1084-7 (1990) DOI:10.1172/JCI114811 REFERENCE PMID:10523031 AUTHORS Sunthornthepvarakul T, Churesigaew S, Ngowngarmratana S TITLE A novel mutation of the signal peptide of the preproparathyroid hormone gene associated with autosomal recessive familial isolated hypoparathyroidism. JOURNAL J Clin Endocrinol Metab 84:3792-6 (1999) DOI:10.1210/jcem.84.10.6070 /// ENTRY 5744v1 Variant NAME PTHLH mutation GENE PTHLH parathyroid hormone like hormone [KO:K22608] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 168470 REFERENCE PMID:29616218 AUTHORS Ripmeester EGJ, Timur UT, Caron MMJ, Welting TJM TITLE Recent Insights into the Contribution of the Changing Hypertrophic Chondrocyte Phenotype in the Development and Progression of Osteoarthritis. JOURNAL Front Bioeng Biotechnol 6:18 (2018) DOI:10.3389/fbioe.2018.00018 /// ENTRY 57534v1 Variant NAME MIB1 mutation GENE MIB1 MIB E3 ubiquitin protein ligase 1 [KO:K10645] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 608677 NETWORK nt06511 NOTCH signaling DISEASE H01216 Left ventricular noncompaction REFERENCE PMID:35332121 AUTHORS Zhou B, Lin W, Long Y, Yang Y, Zhang H, Wu K, Chu Q TITLE Notch signaling pathway: architecture, disease, and therapeutics. JOURNAL Signal Transduct Target Ther 7:95 (2022) DOI:10.1038/s41392-022-00934-y /// ENTRY 57654v1 Variant NAME UVSSA mutation GENE UVSSA UV stimulated scaffold protein A [KO:K23720] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 614632 NETWORK nt06502 Nucleotide excision repair DISEASE H02131 UV-sensitive syndrome REFERENCE PMID:22466610 AUTHORS Nakazawa Y, Sasaki K, Mitsutake N, Matsuse M, Shimada M, Nardo T, Takahashi Y, Ohyama K, Ito K, Mishima H, Nomura M, Kinoshita A, Ono S, Takenaka K, Masuyama R, Kudo T, Slor H, Utani A, Tateishi S, Yamashita S, Stefanini M, Lehmann AR, Yoshiura K, Ogi T TITLE Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair. JOURNAL Nat Genet 44:586-92 (2012) DOI:10.1038/ng.2229 /// ENTRY 57697v1 Variant NAME FANCM mutation GENE FANCM FA complementation group M [KO:K10896] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 609644 NETWORK nt06508 Interstrand crosslink repair DISEASE H00238 Fanconi anemia H00627 Premature ovarian failure REFERENCE PMID:29231814 AUTHORS Fouquet B, Pawlikowska P, Caburet S, Guigon C, Makinen M, Tanner L, Hietala M, Urbanska K, Bellutti L, Legois B, Bessieres B, Gougeon A, Benachi A, Livera G, Rosselli F, Veitia RA, Misrahi M TITLE A homozygous FANCM mutation underlies a familial case of non-syndromic primary ovarian insufficiency. JOURNAL Elife 6:e30490 (2017) DOI:10.7554/eLife.30490 REFERENCE PMID:34793962 AUTHORS Encarnacion JA, Cerezuela P, Espanol I, Garcia MR, Manso C, De la Fuente I, Garrigos N, Viney A, Minguillon J, Surralles J TITLE Fanconi-like anemia related to a FANCM mutation. JOURNAL Eur J Med Genet 65:104399 (2022) DOI:10.1016/j.ejmg.2021.104399 /// ENTRY 57817v1 Variant NAME HAMP mutation GENE HAMP hepcidin antimicrobial peptide [KO:K23106] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 606464 NETWORK nt06507 TGFB signaling DISEASE H00211 Hemochromatosis REFERENCE PMID:30420953 AUTHORS Pantopoulos K TITLE Inherited Disorders of Iron Overload. JOURNAL Front Nutr 5:103 (2018) DOI:10.3389/fnut.2018.00103 /// ENTRY 5781v1 Variant NAME PTPN11 mutation GENE PTPN11 protein tyrosine phosphatase non-receptor type 11 [KO:K07293] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 176876 NETWORK nt06526 MAPK signaling DISEASE H01738 Noonan syndrome H01984 Leopard syndrome H02541 Juvenile myelomonocytic leukemia REFERENCE PMID:34103645 AUTHORS Pudewell S, Wittich C, Kazemein Jasemi NS, Bazgir F, Ahmadian MR TITLE Accessory proteins of the RAS-MAPK pathway: moving from the side line to the front line. JOURNAL Commun Biol 4:696 (2021) DOI:10.1038/s42003-021-02149-3 REFERENCE PMID:36394128 AUTHORS Tartaglia M, Aoki Y, Gelb BD TITLE The molecular genetics of RASopathies: An update on novel disease genes and new disorders. JOURNAL Am J Med Genet C Semin Med Genet 190:425-439 (2022) DOI:10.1002/ajmg.c.32012 REFERENCE PMID:34175492 AUTHORS Riller Q, Rieux-Laucat F TITLE RASopathies: From germline mutations to somatic and multigenic diseases. JOURNAL Biomed J 44:422-432 (2021) DOI:10.1016/j.bj.2021.06.004 REFERENCE PMID:33796386 AUTHORS Gupta AK, Meena JP, Chopra A, Tanwar P, Seth R TITLE Juvenile myelomonocytic leukemia-A comprehensive review and recent advances in management. JOURNAL Am J Blood Res 11:1-21 (2021) /// ENTRY 5805v1 Variant NAME PTS deficiency GENE PTS 6-pyruvoyltetrahydropterin synthase [KO:K01737] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 612719 NETWORK nt06016 Phenylalanine and tyrosine metabolism DISEASE H00167 Phenylketonuria REFERENCE PMID:8178819 AUTHORS Thony B, Leimbacher W, Blau N, Harvie A, Heizmann CW TITLE Hyperphenylalaninemia due to defects in tetrahydrobiopterin metabolism: molecular characterization of mutations in 6-pyruvoyl-tetrahydropterin synthase. JOURNAL Am J Hum Genet 54:782-92 (1994) /// ENTRY 580v1 Variant NAME BARD1 mutation GENE BARD1 BRCA1 associated RING domain 1 [KO:K10683] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 601593 NETWORK nt06506 Double-strand break repair nt06508 Interstrand crosslink repair DISEASE H00031 Breast cancer REFERENCE PMID:15342711 AUTHORS Karppinen SM, Heikkinen K, Rapakko K, Winqvist R TITLE Mutation screening of the BARD1 gene: evidence for involvement of the Cys557Ser allele in hereditary susceptibility to breast cancer. JOURNAL J Med Genet 41:e114 (2004) DOI:10.1136/jmg.2004.020669 REFERENCE PMID:32094664 AUTHORS Tarsounas M, Sung P TITLE The antitumorigenic roles of BRCA1-BARD1 in DNA repair and replication. JOURNAL Nat Rev Mol Cell Biol 21:284-299 (2020) DOI:10.1038/s41580-020-0218-z /// ENTRY 581v1 Variant NAME BAX mutation GENE BAX BCL2 associated X, apoptosis regulator [KO:K02159] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutation E41Gfs ClinVar: 9511 dbSNP: rs398122840 VARIATION mutation E41Rfs ClinVar: 9512 dbSNP: rs398122841 NETWORK nt06231 Apoptosis nt06260 Colorectal cancer nt06524 Apoptosis DISEASE H00020 Colorectal cancer REFERENCE PMID:9020077 AUTHORS Rampino N, Yamamoto H, Ionov Y, Li Y, Sawai H, Reed JC, Perucho M TITLE Somatic frameshift mutations in the BAX gene in colon cancers of the microsatellite mutator phenotype. JOURNAL Science 275:967-9 (1997) DOI:10.1126/science.275.5302.967 /// ENTRY 5836v1 Variant NAME PYGL deficiency GENE PYGL glycogen phosphorylase L [KO:K00688] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 613741 NETWORK nt06017 Glycogen metabolism DISEASE H01944 Glycogen storage disease type VI REFERENCE PMID:9529348 AUTHORS Burwinkel B, Bakker HD, Herschkovitz E, Moses SW, Shin YS, Kilimann MW TITLE Mutations in the liver glycogen phosphorylase gene (PYGL) underlying glycogenosis type VI. JOURNAL Am J Hum Genet 62:785-91 (1998) DOI:10.1086/301790 /// ENTRY 5837v1 Variant NAME PYGM deficiency GENE PYGM glycogen phosphorylase, muscle associated [KO:K00688] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 608455 NETWORK nt06017 Glycogen metabolism DISEASE H01943 Glycogen storage disease type V REFERENCE PMID:16924035 AUTHORS Andersen ST, Duno M, Schwartz M, Vissing J TITLE Do carriers of PYGM mutations have symptoms of McArdle disease? JOURNAL Neurology 67:716-8 (2006) DOI:10.1212/01.wnl.0000230154.79933.d7 /// ENTRY 58484v1 Variant NAME NLRC4 mutation GENE NLRC4 NLR family CARD domain containing 4 [KO:K12805] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 606831 NETWORK nt06521 NLR signaling DISEASE H01748 NLRC4 inflammasomopathy H02159 Familial cold autoinflammatory syndrome REFERENCE PMID:34635190 AUTHORS Masumoto J, Zhou W, Morikawa S, Hosokawa S, Taguchi H, Yamamoto T, Kurata M, Kaneko N TITLE Molecular biology of autoinflammatory diseases. JOURNAL Inflamm Regen 41:33 (2021) DOI:10.1186/s41232-021-00181-8 REFERENCE PMID:29846819 AUTHORS Harapas CR, Steiner A, Davidson S, Masters SL TITLE An Update on Autoinflammatory Diseases: Inflammasomopathies. JOURNAL Curr Rheumatol Rep 20:40 (2018) DOI:10.1007/s11926-018-0750-4 /// ENTRY 5860v1 Variant NAME QDPR deficiency GENE QDPR quinoid dihydropteridine reductase [KO:K00357] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 612676 NETWORK nt06016 Phenylalanine and tyrosine metabolism DISEASE H00167 Phenylketonuria REFERENCE PMID:8326489 AUTHORS Dianzani I, Howells DW, Ponzone A, Saleeba JA, Smooker PM, Cotton RG TITLE Two new mutations in the dihydropteridine reductase gene in patients with tetrahydrobiopterin deficiency. JOURNAL J Med Genet 30:465-9 (1993) DOI:10.1136/jmg.30.6.465 /// ENTRY 5885v1 Variant NAME RAD21 mutation GENE RAD21 RAD21 cohesin complex component [KO:K06670] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 606462 NETWORK nt06512 Chromosome cohesion and segregation DISEASE H00631 Cornelia de Lange syndrome REFERENCE PMID:22633399 AUTHORS Deardorff MA, Wilde JJ, Albrecht M, Dickinson E, Tennstedt S, Braunholz D, Monnich M, Yan Y, Xu W, Gil-Rodriguez MC, Clark D, Hakonarson H, Halbach S, Michelis LD, Rampuria A, Rossier E, Spranger S, Van Maldergem L, Lynch SA, Gillessen-Kaesbach G, Ludecke HJ, Ramsay RG, McKay MJ, Krantz ID, Xu H, Horsfield JA, Kaiser FJ TITLE RAD21 mutations cause a human cohesinopathy. JOURNAL Am J Hum Genet 90:1014-27 (2012) DOI:10.1016/j.ajhg.2012.04.019 /// ENTRY 5888v1 Variant NAME RAD51 mutation GENE RAD51 RAD51 recombinase [KO:K04482] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 179617 NETWORK nt06506 Double-strand break repair nt06508 Interstrand crosslink repair DISEASE H00031 Breast cancer H00238 Fanconi anemia REFERENCE PMID:10807537 AUTHORS Kato M, Yano K, Matsuo F, Saito H, Katagiri T, Kurumizaka H, Yoshimoto M, Kasumi F, Akiyama F, Sakamoto G, Nagawa H, Nakamura Y, Miki Y TITLE Identification of Rad51 alteration in patients with bilateral breast cancer. JOURNAL J Hum Genet 45:133-7 (2000) DOI:10.1007/s100380050199 REFERENCE PMID:31518051 AUTHORS Uemura M, Ochiai K, Morimatsu M, Michishita M, Onozawa E, Azakami D, Uno Y, Yoshikawa Y, Sasaki T, Watanabe M, Omi T TITLE The canine RAD51 mutation leads to the attenuation of interaction with PALB2. JOURNAL Vet Comp Oncol 18:247-255 (2020) DOI:10.1111/vco.12542 /// ENTRY 5889v1 Variant NAME RAD51C mutation GENE RAD51C RAD51 paralog C [KO:K10870] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 602774 NETWORK nt06506 Double-strand break repair nt06508 Interstrand crosslink repair DISEASE H00238 Fanconi anemia H02531 Familial breast-ovarian cancer REFERENCE PMID:21990120 AUTHORS Thompson ER, Boyle SE, Johnson J, Ryland GL, Sawyer S, Choong DY, kConFab, Chenevix-Trench G, Trainer AH, Lindeman GJ, Mitchell G, James PA, Campbell IG TITLE Analysis of RAD51C germline mutations in high-risk breast and ovarian cancer families and ovarian cancer patients. JOURNAL Hum Mutat 33:95-9 (2012) DOI:10.1002/humu.21625 REFERENCE PMID:21616938 AUTHORS Pelttari LM, Heikkinen T, Thompson D, Kallioniemi A, Schleutker J, Holli K, Blomqvist C, Aittomaki K, Butzow R, Nevanlinna H TITLE RAD51C is a susceptibility gene for ovarian cancer. JOURNAL Hum Mol Genet 20:3278-88 (2011) DOI:10.1093/hmg/ddr229 /// ENTRY 5892v1 Variant NAME RAD51D mutation GENE RAD51D RAD51 paralog D [KO:K10871] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 602954 NETWORK nt06506 Double-strand break repair nt06508 Interstrand crosslink repair DISEASE H02531 Familial breast-ovarian cancer REFERENCE PMID:21822267 AUTHORS Loveday C, Turnbull C, Ramsay E, Hughes D, Ruark E, Frankum JR, Bowden G, Kalmyrzaev B, Warren-Perry M, Snape K, Adlard JW, Barwell J, Berg J, Brady AF, Brewer C, Brice G, Chapman C, Cook J, Davidson R, Donaldson A, Douglas F, Greenhalgh L, Henderson A, Izatt L, Kumar A, Lalloo F, Miedzybrodzka Z, Morrison PJ, Paterson J, Porteous M, Rogers MT, Shanley S, Walker L, Eccles D, Evans DG, Renwick A, Seal S, Lord CJ, Ashworth A, Reis-Filho JS, Antoniou AC, Rahman N TITLE Germline mutations in RAD51D confer susceptibility to ovarian cancer. JOURNAL Nat Genet 43:879-882 (2011) DOI:10.1038/ng.893 /// ENTRY 5894v1 Variant NAME RAF1 mutation GENE RAF1 Raf-1 proto-oncogene, serine/threonine kinase [KO:K04366] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 164760 NETWORK nt06526 MAPK signaling DISEASE H01738 Noonan syndrome H01984 Leopard syndrome REFERENCE PMID:36394128 AUTHORS Tartaglia M, Aoki Y, Gelb BD TITLE The molecular genetics of RASopathies: An update on novel disease genes and new disorders. JOURNAL Am J Med Genet C Semin Med Genet 190:425-439 (2022) DOI:10.1002/ajmg.c.32012 /// ENTRY 5896v1 Variant NAME RAG1 mutation GENE RAG1 recombination activating 1 [KO:K10628] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 179615 NETWORK nt06506 Double-strand break repair DISEASE H00092 T-B-Severe combined immunodeficiency H01244 T+B+Severe combined immunodeficiencies (SCIDs) H02554 Omenn syndrome REFERENCE PMID:8810255 AUTHORS Schwarz K, Gauss GH, Ludwig L, Pannicke U, Li Z, Lindner D, Friedrich W, Seger RA, Hansen-Hagge TE, Desiderio S, Lieber MR, Bartram CR TITLE RAG mutations in human B cell-negative SCID. JOURNAL Science 274:97-9 (1996) DOI:10.1126/science.274.5284.97 REFERENCE PMID:9630231 AUTHORS Villa A, Santagata S, Bozzi F, Giliani S, Frattini A, Imberti L, Gatta LB, Ochs HD, Schwarz K, Notarangelo LD, Vezzoni P, Spanopoulou E TITLE Partial V(D)J recombination activity leads to Omenn syndrome. JOURNAL Cell 93:885-96 (1998) DOI:10.1016/s0092-8674(00)81448-8 /// ENTRY 5897v1 Variant NAME RAG2 mutation GENE RAG2 recombination activating 2 [KO:K10988] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 179616 NETWORK nt06506 Double-strand break repair DISEASE H00092 T-B-Severe combined immunodeficiency H02554 Omenn syndrome REFERENCE PMID:8810255 AUTHORS Schwarz K, Gauss GH, Ludwig L, Pannicke U, Li Z, Lindner D, Friedrich W, Seger RA, Hansen-Hagge TE, Desiderio S, Lieber MR, Bartram CR TITLE RAG mutations in human B cell-negative SCID. JOURNAL Science 274:97-9 (1996) DOI:10.1126/science.274.5284.97 REFERENCE PMID:9630231 AUTHORS Villa A, Santagata S, Bozzi F, Giliani S, Frattini A, Imberti L, Gatta LB, Ochs HD, Schwarz K, Notarangelo LD, Vezzoni P, Spanopoulou E TITLE Partial V(D)J recombination activity leads to Omenn syndrome. JOURNAL Cell 93:885-96 (1998) DOI:10.1016/s0092-8674(00)81448-8 /// ENTRY 5921v1 Variant NAME RASA1 mutation GENE RASA1 RAS p21 protein activator 1 [KO:K04352] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 139150 NETWORK nt06526 MAPK signaling DISEASE H00532 Parkes Weber syndrome H02043 Capillary malformation-arteriovenous malformation REFERENCE PMID:35103797 AUTHORS Rauen KA TITLE Defining RASopathy. JOURNAL Dis Model Mech 15:274193 (2022) DOI:10.1242/dmm.049344 REFERENCE PMID:34175492 AUTHORS Riller Q, Rieux-Laucat F TITLE RASopathies: From germline mutations to somatic and multigenic diseases. JOURNAL Biomed J 44:422-432 (2021) DOI:10.1016/j.bj.2021.06.004 REFERENCE PMID:14639529 AUTHORS Eerola I, Boon LM, Mulliken JB, Burrows PE, Dompmartin A, Watanabe S, Vanwijck R, Vikkula M TITLE Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations. JOURNAL Am J Hum Genet 73:1240-9 (2003) DOI:10.1086/379793 /// ENTRY 5925v1 Variant NAME RB1 loss GENE RB1 RB transcriptional corepressor 1 [KO:K06618] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION Allelic loss on 13q NETWORK nt06230 Cell cycle nt06263 Hepatocellular carcinoma nt06265 Bladder cancer nt06267 Small cell lung cancer nt06273 Glioma nt06276 Chronic myeloid leukemia DISEASE H00004 Chronic myeloid leukemia H00013 Small cell lung cancer H00022 Bladder cancer H00042 Glioma H00048 Hepatocellular carcinoma REFERENCE PMID:11253051 AUTHORS Holland EC. TITLE Gliomagenesis: genetic alterations and mouse models. JOURNAL Nat Rev Genet 2:120-9 (2001) DOI:10.1038/35052535 REFERENCE PMID:11640868 AUTHORS Bench AJ, Cross NC, Huntly BJ, Nacheva EP, Green AR TITLE Myeloproliferative disorders. JOURNAL Best Pract Res Clin Haematol 14:531-51 (2001) DOI:10.1053/beha.2001.0153 REFERENCE PMID:10690546 AUTHORS Wada T, Louhelainen J, Hemminki K, Adolfsson J, Wijkstrom H, Norming U, Borgstrom E, Hansson J, Sandstedt B, Steineck G TITLE Bladder cancer: allelic deletions at and around the retinoblastoma tumor suppressor gene in relation to stage and grade. JOURNAL Clin Cancer Res 6:610-5 (2000) REFERENCE PMID:9036868 AUTHORS Tamura K, Zhang X, Murakami Y, Hirohashi S, Xu HJ, Hu SX, Benedict WF, Sekiya T TITLE Deletion of three distinct regions on chromosome 13q in human non-small-cell lung cancer. JOURNAL Int J Cancer 74:45-9 (1997) DOI:10.1002/(SICI)1097-0215(19970220)74:1<45::AID-IJC8>3.0.CO;2-0 REFERENCE PMID:15085488 AUTHORS Suriawinata A, Xu R TITLE An update on the molecular genetics of hepatocellular carcinoma. JOURNAL Semin Liver Dis 24:77-88 (2004) DOI:10.1055/s-2004-823102 REFERENCE PMID:7798888 AUTHORS Hsia CC, Di Bisceglie AM, Kleiner DE Jr, Farshid M, Tabor E TITLE RB tumor suppressor gene expression in hepatocellular carcinomas from patients infected with the hepatitis B virus. JOURNAL J Med Virol 44:67-73 (1994) DOI:10.1002/jmv.1890440113 /// ENTRY 5925v2 Variant NAME RB1 mutation GENE RB1 RB transcriptional corepressor 1 [KO:K06618] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutation R661W ClinVar: 13087 dbSNP: rs137853294 COSM: 861 VARIATION mutation R251* ClinVar: 428681 dbSNP: rs1131690863 COSM: 878 VARIATION mutation M208V COSM: 859 VARIATION mutation L158S COSM: 860 VARIATION mutation I138S COSM: 862 VARIATION mutation S794I COSM: 864 NETWORK nt06230 Cell cycle nt06265 Bladder cancer nt06267 Small cell lung cancer DISEASE H00013 Small cell lung cancer H00022 Bladder cancer REFERENCE PMID:7710951 AUTHORS Miyamoto H, Shuin T, Torigoe S, Iwasaki Y, Kubota Y TITLE Retinoblastoma gene mutations in primary human bladder cancer. JOURNAL Br J Cancer 71:831-5 (1995) DOI:10.1038/bjc.1995.160 REFERENCE PMID:22941188 AUTHORS Peifer M, Fernandez-Cuesta L, Sos ML, George J, Seidel D, Kasper LH, Plenker D, Leenders F, Sun R, Zander T, Menon R, Koker M, Dahmen I, Muller C, Di Cerbo V, Schildhaus HU, Altmuller J, Baessmann I, Becker C, de Wilde B, Vandesompele J, Bohm D, Ansen S, Gabler F, Wilkening I, Heynck S, Heuckmann JM, Lu X, Carter SL, Cibulskis K, Banerji S, Getz G, Park KS, Rauh D, Grutter C, Fischer M, Pasqualucci L, Wright G, Wainer Z, Russell P, Petersen I, Chen Y, Stoelben E, Ludwig C, Schnabel P, Hoffmann H, Muley T, Brockmann M, Engel-Riedel W, Muscarella LA, Fazio VM, Groen H, Timens W, Sietsma H, Thunnissen E, Smit E, Heideman DA, Snijders PJ, Cappuzzo F, Ligorio C, Damiani S, Field J, Solberg S, Brustugun OT, Lund-Iversen M, Sanger J, Clement JH, Soltermann A, Moch H, Weder W, Solomon B, Soria JC, Validire P, Besse B, Brambilla E, Brambilla C, Lantuejoul S, Lorimier P, Schneider PM, Hallek M, Pao W, Meyerson M, Sage J, Shendure J, Schneider R, Buttner R, Wolf J, Nurnberg P, Perner S, Heukamp LC, Brindle PK, Haas S, Thomas RK TITLE Integrative genome analyses identify key somatic driver mutations of small-cell lung cancer. JOURNAL Nat Genet 44:1104-10 (2012) DOI:10.1038/ng.2396 /// ENTRY 5932v1 Variant NAME CtIP mutation GENE RBBP8 RB binding protein 8, endonuclease [KO:K20773] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 604124 NETWORK nt06506 Double-strand break repair DISEASE H00992 Seckel syndrome REFERENCE PMID:21998596 AUTHORS Qvist P, Huertas P, Jimeno S, Nyegaard M, Hassan MJ, Jackson SP, Borglum AD TITLE CtIP Mutations Cause Seckel and Jawad Syndromes. JOURNAL PLoS Genet 7:e1002310 (2011) DOI:10.1371/journal.pgen.1002310 /// ENTRY 593v1 Variant NAME BCKDHA deficiency GENE BCKDHA branched chain keto acid dehydrogenase E1 subunit alpha [KO:K00166] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 608348 NETWORK nt06024 Valine, leucine and isoleucine degradation DISEASE H00172 Maple syrup urine disease REFERENCE PMID:2703538 AUTHORS Zhang B, Edenberg HJ, Crabb DW, Harris RA TITLE Evidence for both a regulatory mutation and a structural mutation in a family with maple syrup urine disease. JOURNAL J Clin Invest 83:1425-9 (1989) DOI:10.1172/JCI114033 /// ENTRY 594v1 Variant NAME BCKDHB deficiency GENE BCKDHB branched chain keto acid dehydrogenase E1 subunit beta [KO:K00167] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 248611 NETWORK nt06024 Valine, leucine and isoleucine degradation DISEASE H00172 Maple syrup urine disease REFERENCE PMID:2022752 AUTHORS Nobukuni Y, Mitsubuchi H, Akaboshi I, Indo Y, Endo F, Yoshioka A, Matsuda I TITLE Maple syrup urine disease. Complete defect of the E1 beta subunit of the branched chain alpha-ketoacid dehydrogenase complex due to a deletion of an 11-bp repeat sequence which encodes a mitochondrial targeting leader peptide in a family with the disease. JOURNAL J Clin Invest 87:1862-6 (1991) DOI:10.1172/JCI115209 /// ENTRY 595v1 Variant NAME CCND1 amplification GENE CCND1 cyclin D1 [KO:K04503] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION amplification ClinVar: 441904 dbVar: nsv2770252 NETWORK nt06230 Cell cycle nt06270 Breast cancer DISEASE H00031 Breast cancer REFERENCE PMID:17653856 AUTHORS Elsheikh S, Green AR, Aleskandarany MA, Grainge M, Paish CE, Lambros MB, Reis-Filho JS, Ellis IO TITLE CCND1 amplification and cyclin D1 expression in breast cancer and their relation with proteomic subgroups and patient outcome. JOURNAL Breast Cancer Res Treat 109:325-35 (2008) DOI:10.1007/s10549-007-9659-8 REFERENCE PMID:19904758 AUTHORS Roy PG, Pratt N, Purdie CA, Baker L, Ashfield A, Quinlan P, Thompson AM TITLE High CCND1 amplification identifies a group of poor prognosis women with estrogen receptor positive breast cancer. JOURNAL Int J Cancer 127:355-60 (2010) DOI:10.1002/ijc.25034 /// ENTRY 5966v1 Variant NAME REL amplification GENE REL REL proto-oncogene, NF-kB subunit [KO:K09254] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION amplification ClinVar: 146814 dbVar: nsv533349 NETWORK nt06240 Transcription DISEASE H00007 Hodgkin lymphoma REFERENCE PMID:12511414 AUTHORS Barth TF, Martin-Subero JI, Joos S, Menz CK, Hasel C, Mechtersheimer G, Parwaresch RM, Lichter P, Siebert R, Mooller P TITLE Gains of 2p involving the REL locus correlate with nuclear c-Rel protein accumulation in neoplastic cells of classical Hodgkin lymphoma. JOURNAL Blood 101:3681-6 (2003) DOI:10.1182/blood-2002-08-2577 REFERENCE PMID:11830490 AUTHORS Joos S, Menz CK, Wrobel G, Siebert R, Gesk S, Ohl S, Mechtersheimer G, Trumper L, Moller P, Lichter P, Barth TF TITLE Classical Hodgkin lymphoma is characterized by recurrent copy number gains of the short arm of chromosome 2. JOURNAL Blood 99:1381-7 (2002) DOI:10.1182/blood.V99.4.1381 /// ENTRY 596v1 Variant NAME BCL2 overepression GENE BCL2 BCL2 apoptosis regulator [KO:K02161] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION overexpression NETWORK nt06231 Apoptosis nt06267 Small cell lung cancer nt06524 Apoptosis DISEASE H00013 Small cell lung cancer DRUG_TARGET Venetoclax: D10679 REFERENCE PMID:12616528 AUTHORS Shivapurkar N, Reddy J, Chaudhary PM, Gazdar AF. TITLE Apoptosis and lung cancer: a review. JOURNAL J Cell Biochem 88:885-98 (2003) DOI:10.1002/jcb.10440 REFERENCE PMID:10929757 AUTHORS Junker K, Wiethege T, Muller KM TITLE Pathology of small-cell lung cancer. JOURNAL J Cancer Res Clin Oncol 126:361-8 (2000) DOI:10.1007/PL00008483 REFERENCE PMID:8261463 AUTHORS Ikegaki N, Katsumata M, Minna J, Tsujimoto Y TITLE Expression of bcl-2 in small cell lung carcinoma cells. JOURNAL Cancer Res 54:6-8 (1994) /// ENTRY 5970v1 Variant NAME RELA mutation GENE RELA RELA proto-oncogene, NF-kB subunit [KO:K04735] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 164014 NETWORK nt06516 TNF signaling DISEASE H02593 Chronic mucocutaneous ulceration REFERENCE PMID:33160483 AUTHORS Nigrovic PA, Lee PY, Hoffman HM TITLE Monogenic autoinflammatory disorders: Conceptual overview, phenotype, and clinical approach. JOURNAL J Allergy Clin Immunol 146:925-937 (2020) DOI:10.1016/j.jaci.2020.08.017 REFERENCE PMID:34699263 AUTHORS Rood JE, Behrens EM TITLE Inherited Autoinflammatory Syndromes. JOURNAL Annu Rev Pathol 17:227-249 (2022) DOI:10.1146/annurev-pathmechdis-030121-041528 /// ENTRY 5972v1 Variant NAME REN mutation GENE REN renin [KO:K01380] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 179820 NETWORK nt06316 Renin-angiotensin-aldosterone signaling DISEASE H00575 Renal tubular dysgenesis REFERENCE PMID:16116425 AUTHORS Gribouval O, Gonzales M, Neuhaus T, Aziza J, Bieth E, Laurent N, Bouton JM, Feuillet F, Makni S, Ben Amar H, Laube G, Delezoide AL, Bouvier R, Dijoud F, Ollagnon-Roman E, Roume J, Joubert M, Antignac C, Gubler MC TITLE Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis. JOURNAL Nat Genet 37:964-8 (2005) DOI:10.1038/ng1623 /// ENTRY 5979v1 Variant NAME RET fusion GENE RET ret proto-oncogene [KO:K05126] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION CCDC6-RET fusion, inversion inv(10)(q11.2q21) COSF: 1271 VARIATION CCDC6-RET fusion, translocation t(10;10)(q11;q21) COSF: 1271 VARIATION NCOA4-RET fusion, inversion inv(10)(q11q11) COSF: 1491 VARIATION KIF5B-RET fusion, inversion inv(10)(p11q11) COSF: 1231 NETWORK nt06210 ERK signaling nt06266 Non-small cell lung cancer nt06274 Thyroid cancer DISEASE H00014 Non-small cell lung cancer H00032 Thyroid cancer DRUG_TARGET Pralsetinib (DG03223): D11712 D12354 Selpercatinib: D11713 REFERENCE PMID:31715421 AUTHORS Li AY, McCusker MG, Russo A, Scilla KA, Gittens A, Arensmeyer K, Mehra R, Adamo V, Rolfo C TITLE RET fusions in solid tumors. JOURNAL Cancer Treat Rev 81:101911 (2019) DOI:10.1016/j.ctrv.2019.101911 REFERENCE PMID:29134959 AUTHORS Drilon A, Hu ZI, Lai GGY, Tan DSW TITLE Targeting RET-driven cancers: lessons from evolving preclinical and clinical landscapes. JOURNAL Nat Rev Clin Oncol 15:151-167 (2018) DOI:10.1038/nrclinonc.2017.175 REFERENCE PMID:16557281 AUTHORS Kondo T, Ezzat S, Asa SL. TITLE Pathogenetic mechanisms in thyroid follicular-cell neoplasia. JOURNAL Nat Rev Cancer 6:292-306 (2006) DOI:10.1038/nrc1836 REFERENCE PMID:30941048 AUTHORS Takeuchi K TITLE Discovery Stories of RET Fusions in Lung Cancer: A Mini-Review. JOURNAL Front Physiol 10:216 (2019) DOI:10.3389/fphys.2019.00216 /// ENTRY 5979v2 Variant NAME RET mutation GENE RET ret proto-oncogene [KO:K05126] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutation M918T ClinVar: 13919 dbSNP: rs74799832 COSM: 965 VARIATION mutation C634F ClinVar: 13911 dbSNP: rs75996173 COSM: 1237919 VARIATION mutation A883F ClinVar: 38629 dbSNP: rs377767429 COSM: 981 VARIATION mutation V804M ClinVar: 37102 dbSNP: rs79658334 COSM: 86004 VARIATION mutation S891A ClinVar: 13951 dbSNP: rs75234356 COSM: 9213759 NETWORK nt06210 ERK signaling nt06214 PI3K signaling nt06526 MAPK signaling nt06530 PI3K signaling DISEASE H00032 Thyroid cancer DRUG_TARGET Selpercatinib: D11713 REFERENCE PMID:25824727 AUTHORS Yeganeh MZ, Sheikholeslami S, Hedayati M TITLE RET proto oncogene mutation detection and medullary thyroid carcinoma prevention. JOURNAL Asian Pac J Cancer Prev 16:2107-17 (2015) DOI:10.7314/apjcp.2015.16.6.2107 REFERENCE PMID:26868437 AUTHORS Romei C, Ciampi R, Elisei R TITLE A comprehensive overview of the role of the RET proto-oncogene in thyroid carcinoma. JOURNAL Nat Rev Endocrinol 12:192-202 (2016) DOI:10.1038/nrendo.2016.11 REFERENCE PMID:28506408 AUTHORS Accardo G, Conzo G, Esposito D, Gambardella C, Mazzella M, Castaldo F, Di Donna C, Polistena A, Avenia N, Colantuoni V, Giugliano D, Pasquali D TITLE Genetics of medullary thyroid cancer: An overview. JOURNAL Int J Surg 41 Suppl 1:S2-S6 (2017) DOI:10.1016/j.ijsu.2017.02.064 REFERENCE PMID:15982921 AUTHORS Arighi E, Borrello MG, Sariola H TITLE RET tyrosine kinase signaling in development and cancer. JOURNAL Cytokine Growth Factor Rev 16:441-67 (2005) DOI:10.1016/j.cytogfr.2005.05.010 /// ENTRY 5979v3 Variant NAME RET mutation GENE RET ret proto-oncogene [KO:K05126] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 164761 NETWORK nt06526 MAPK signaling DISEASE H00910 Hirschsprung disease H01510 Malignant paraganglioma H01592 Medullary thyroid cancer REFERENCE PMID:35283407 AUTHORS Takahashi M TITLE RET receptor signaling: Function in development, metabolic disease, and cancer. JOURNAL Proc Jpn Acad Ser B Phys Biol Sci 98:112-125 (2022) DOI:10.2183/pjab.98.008 /// ENTRY 5981v1 Variant NAME RFC1 mutation GENE RFC1 replication factor C subunit 1 [KO:K10754] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 102579 NETWORK nt06504 Base excision repair nt06509 DNA replication DISEASE H02366 Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome REFERENCE PMID:32851396 AUTHORS Beecroft SJ, Cortese A, Sullivan R, Yau WY, Dyer Z, Wu TY, Mulroy E, Pelosi L, Rodrigues M, Taylor R, Mossman S, Leadbetter R, Cleland J, Anderson T, Ravenscroft G, Laing NG, Houlden H, Reilly MM, Roxburgh RH TITLE A Maori specific RFC1 pathogenic repeat configuration in CANVAS, likely due to a founder allele. JOURNAL Brain 143:2673-2680 (2020) DOI:10.1093/brain/awaa203 REFERENCE PMID:35306791 AUTHORS Kulshreshtha D, Ganguly J, Jog M TITLE Expanding the Clinical Spectrum of RFC1 Gene Mutations. JOURNAL J Mov Disord jmd.21117 (2022) DOI:10.14802/jmd.21117 /// ENTRY 6016v1 Variant NAME RIT1 mutation GENE RIT1 Ras like without CAAX 1 [KO:K07832] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 609591 NETWORK nt06526 MAPK signaling DISEASE H01738 Noonan syndrome REFERENCE PMID:33011209 AUTHORS Malaquias AC, Jorge AAL TITLE Activation of the MAPK pathway (RASopathies) and partial growth hormone insensitivity. JOURNAL Mol Cell Endocrinol 519:111040 (2021) DOI:10.1016/j.mce.2020.111040 /// ENTRY 6045v1 Variant NAME RNF2 mutation GENE RNF2 ring finger protein 2 [KO:K10695] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 608985 NETWORK nt06523 Epigenetic regulation by Polycomb complexes DISEASE H02587 Luo-Schoch-Yamamoto syndrome REFERENCE PMID:33864376 AUTHORS Luo X, Schoch K, Jangam SV, Bhavana VH, Graves HK, Kansagra S, Jasien JM, Stong N, Keren B, Mignot C, Ravelli C, Bellen HJ, Wangler MF, Shashi V, Yamamoto S TITLE Rare deleterious de novo missense variants in Rnf2/Ring2 are associated with a neurodevelopmental disorder with unique clinical features. JOURNAL Hum Mol Genet 30:1283-1292 (2021) DOI:10.1093/hmg/ddab110 /// ENTRY 60675v1 Variant NAME PROK2 mutation GENE PROK2 prokineticin 2 [KO:K24191] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 607002 NETWORK nt06361 Hypogonadotropic hypogonadism DISEASE H00255 Hypogonadotropic hypogonadism REFERENCE PMID:23596439 AUTHORS Dode C, Rondard P TITLE PROK2/PROKR2 Signaling and Kallmann Syndrome. JOURNAL Front Endocrinol (Lausanne) 4:19 (2013) DOI:10.3389/fendo.2013.00019 REFERENCE PMID:20502053 AUTHORS Abreu AP, Kaiser UB, Latronico AC TITLE The role of prokineticins in the pathogenesis of hypogonadotropic hypogonadism. JOURNAL Neuroendocrinology 91:283-90 (2010) DOI:10.1159/000308880 REFERENCE PMID:18559922 AUTHORS Cole LW, Sidis Y, Zhang C, Quinton R, Plummer L, Pignatelli D, Hughes VA, Dwyer AA, Raivio T, Hayes FJ, Seminara SB, Huot C, Alos N, Speiser P, Takeshita A, Van Vliet G, Pearce S, Crowley WF Jr, Zhou QY, Pitteloud N TITLE Mutations in prokineticin 2 and prokineticin receptor 2 genes in human gonadotrophin-releasing hormone deficiency: molecular genetics and clinical spectrum. JOURNAL J Clin Endocrinol Metab 93:3551-9 (2008) DOI:10.1210/jc.2007-2654 REFERENCE PMID:15772293 AUTHORS Chen J, Kuei C, Sutton S, Wilson S, Yu J, Kamme F, Mazur C, Lovenberg T, Liu C TITLE Identification and pharmacological characterization of prokineticin 2 beta as a selective ligand for prokineticin receptor 1. JOURNAL Mol Pharmacol 67:2070-6 (2005) DOI:10.1124/mol.105.011619 /// ENTRY 6098v1 Variant NAME ROS1 fusion GENE ROS1 ROS proto-oncogene 1, receptor tyrosine kinase [KO:K05088] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION CD74-ROS1 fusion caused by translocation t(5;6)(q32;q22) COSF: 1201 VARIATION SLC34A2-ROS1 fusion caused by translocation t(4;6)(Q15.2;q22) COSF: 1197 DRUG_TARGET Crizotinib: D09731 Entrectinib: D10926 REFERENCE PMID:23877438 AUTHORS Matsuura S, Shinmura K, Kamo T, Igarashi H, Maruyama K, Tajima M, Ogawa H, Tanahashi M, Niwa H, Funai K, Kohno T, Suda T, Sugimura H TITLE CD74-ROS1 fusion transcripts in resected non-small cell lung carcinoma. JOURNAL Oncol Rep 30:1675-80 (2013) DOI:10.3892/or.2013.2630 REFERENCE PMID:28740441 AUTHORS Rossi G, Jocolle G, Conti A, Tiseo M, Zito Marino F, Donati G, Franco R, Bono F, Barbisan F, Facchinetti F TITLE Detection of ROS1 rearrangement in non-small cell lung cancer: current and future perspectives. JOURNAL Lung Cancer (Auckl) 8:45-55 (2017) DOI:10.2147/LCTT.S120172 REFERENCE PMID:22327623 AUTHORS Takeuchi K, Soda M, Togashi Y, Suzuki R, Sakata S, Hatano S, Asaka R, Hamanaka W, Ninomiya H, Uehara H, Lim Choi Y, Satoh Y, Okumura S, Nakagawa K, Mano H, Ishikawa Y TITLE RET, ROS1 and ALK fusions in lung cancer. JOURNAL Nat Med 18:378-81 (2012) DOI:10.1038/nm.2658 REFERENCE PMID:23719267 AUTHORS Davies KD, Doebele RC TITLE Molecular pathways: ROS1 fusion proteins in cancer. JOURNAL Clin Cancer Res 19:4040-5 (2013) DOI:10.1158/1078-0432.CCR-12-2851 /// ENTRY 6117v1 Variant NAME RPA1 mutation GENE RPA1 replication protein A1 [KO:K07466] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 179835 NETWORK nt06502 Nucleotide excision repair nt06506 Double-strand break repair nt06508 Interstrand crosslink repair nt06509 DNA replication DISEASE H02569 Pulmonary fibrosis and/or bone marrow failure, telomere-related REFERENCE PMID:34767620 AUTHORS Sharma R, Sahoo SS, Honda M, Granger SL, Goodings C, Sanchez L, Kunstner A, Busch H, Beier F, Pruett-Miller SM, Valentine MB, Fernandez AG, Chang TC, Geli V, Churikov D, Hirschi S, Pastor VB, Boerries M, Lauten M, Kelaidi C, Cooper MA, Nicholas S, Rosenfeld JA, Polychronopoulou S, Kannengiesser C, Saintome C, Niemeyer CM, Revy P, Wold MS, Spies M, Erlacher M, Coulon S, Wlodarski MW TITLE Gain-of-function mutations in RPA1 cause a syndrome with short telomeres and somatic genetic rescue. JOURNAL Blood 139:1039-1051 (2022) DOI:10.1182/blood.2021011980 REFERENCE PMID:28854355 AUTHORS He H, Wang J, Liu T TITLE UV-Induced RPA1 Acetylation Promotes Nucleotide Excision Repair. JOURNAL Cell Rep 20:2010-2025 (2017) DOI:10.1016/j.celrep.2017.08.016 REFERENCE PMID:32862594 AUTHORS Fourtziala E, Givalos N, Alexakis N, Griniatsos J, Alevizopoulos N, Kavantzas N, C Lazaris A, Korkolopoulou P, Gakiopoulou H TITLE Replication Protein A (RPA1, RPA2 and RPA3) expression in gastric cancer: correlation with clinicopathologic parameters and patients' survival. JOURNAL J BUON 25:1482-1489 (2020) /// ENTRY 6197v1 Variant NAME RPS6KA3 mutation GENE RPS6KA3 ribosomal protein S6 kinase A3 [KO:K04373] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 300075 NETWORK nt06526 MAPK signaling DISEASE H00574 Coffin-Lowry syndrome REFERENCE PMID:30862318 AUTHORS Vogiatzi A, Mavrothalassitis G TITLE Craniofacial, orofacial and dental disorders: the role of the RAS/ERK pathway. JOURNAL Expert Rev Mol Med 21:e2 (2019) DOI:10.1017/erm.2019.2 REFERENCE PMID:19888300 AUTHORS Pereira PM, Schneider A, Pannetier S, Heron D, Hanauer A TITLE Coffin-Lowry syndrome. JOURNAL Eur J Hum Genet 18:627-33 (2010) DOI:10.1038/ejhg.2009.189 /// ENTRY 6261v1 Variant NAME RYR1 mutation GENE RYR1 ryanodine receptor 1 [KO:K04961] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 180901 NETWORK nt06528 Calcium signaling DISEASE H01810 Congenital myopathy REFERENCE PMID:30155320 AUTHORS Laforgia N, Capozza M, De Cosmo L, Di Mauro A, Baldassarre ME, Mercadante F, Torella AL, Nigro V, Resta N TITLE A Rare Case of Severe Congenital RYR1-Associated Myopathy. JOURNAL Case Rep Genet 2018:6184185 (2018) DOI:10.1155/2018/6184185 /// ENTRY 6262v1 Variant NAME RYR2 mutation GENE RYR2 ryanodine receptor 2 [KO:K04962] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 180902 NETWORK nt06528 Calcium signaling DISEASE H00293 Arrhythmogenic right ventricular cardiomyopathy H01019 Catecholaminergic polymorphic ventricular tachycardia REFERENCE PMID:35892340 AUTHORS Fowler ED, Zissimopoulos S TITLE Molecular, Subcellular, and Arrhythmogenic Mechanisms in Genetic RyR2 Disease. JOURNAL Biomolecules 12:biom12081030 (2022) DOI:10.3390/biom12081030 REFERENCE PMID:35222090 AUTHORS Dulhunty AF TITLE Molecular Changes in the Cardiac RyR2 With Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT). JOURNAL Front Physiol 13:830367 (2022) DOI:10.3389/fphys.2022.830367 REFERENCE PMID:21977247 AUTHORS Rampazzo A TITLE Genetic bases of arrhythmogenic right ventricular Cardiomyopathy. JOURNAL Heart Int 2:17 (2006) DOI:10.4081/hi.2006.17 /// ENTRY 629v1 Variant NAME CFB mutaion GENE CFB complement factor B [KO:K01335] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 138470 NETWORK nt06513 Complement cascade DISEASE H00104 Alternative complement pathway component defects H00821 Age-related macular degeneration H01434 Atypical hemolytic uremic syndrome REFERENCE PMID:24152280 AUTHORS Slade C, Bosco J, Unglik G, Bleasel K, Nagel M, Winship I TITLE Deficiency in complement factor B. JOURNAL N Engl J Med 369:1667-9 (2013) DOI:10.1056/NEJMc1306326 REFERENCE PMID:31156618 AUTHORS Park DH, Connor KM, Lambris JD TITLE The Challenges and Promise of Complement Therapeutics for Ocular Diseases. JOURNAL Front Immunol 10:1007 (2019) DOI:10.3389/fimmu.2019.01007 REFERENCE PMID:32950988 AUTHORS Avila Bernabeu AI, Cavero Escribano T, Cao Vilarino M TITLE Atypical Hemolytic Uremic Syndrome: New Challenges in the Complement Blockage Era. JOURNAL Nephron 144:537-549 (2020) DOI:10.1159/000508920 /// ENTRY 63035v1 Variant NAME BCORL1 mutation GENE BCORL1 BCL6 corepressor like 1 [KO:K26199] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 300688 NETWORK nt06523 Epigenetic regulation by Polycomb complexes DISEASE H02622 Shukla-Vernon syndrome REFERENCE PMID:30941876 AUTHORS Shukla A, Girisha KM, Somashekar PH, Nampoothiri S, McClellan R, Vernon HJ TITLE Variants in the transcriptional corepressor BCORL1 are associated with an X-linked disorder of intellectual disability, dysmorphic features, and behavioral abnormalities. JOURNAL Am J Med Genet A 179:870-874 (2019) DOI:10.1002/ajmg.a.61118 /// ENTRY 6307v1 Variant NAME MSMO1 deficiency GENE MSMO1 methylsterol monooxygenase 1 [KO:K07750] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 607545 NETWORK nt06034 Cholesterol biosynthesis DISEASE H02132 Microcephaly syndrome REFERENCE PMID:21285510 AUTHORS He M, Kratz LE, Michel JJ, Vallejo AN, Ferris L, Kelley RI, Hoover JJ, Jukic D, Gibson KM, Wolfe LA, Ramachandran D, Zwick ME, Vockley J TITLE Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay. JOURNAL J Clin Invest 121:976-84 (2011) DOI:10.1172/JCI42650 /// ENTRY 6309v1 Variant NAME SC5D deficiency GENE SC5D sterol-C5-desaturase [KO:K00227] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 602286 NETWORK nt06034 Cholesterol biosynthesis DISEASE H01281 Lathosterolosis REFERENCE PMID:12189593 AUTHORS Brunetti-Pierri N, Corso G, Rossi M, Ferrari P, Balli F, Rivasi F, Annunziata I, Ballabio A, Russo AD, Andria G, Parenti G TITLE Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase. JOURNAL Am J Hum Genet 71:952-8 (2002) DOI:10.1086/342668 /// ENTRY 6310v1 Variant NAME ATXN1 mutation GENE ATXN1 ataxin 1 [KO:K23616] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 601556 NETWORK nt06462 Spinocerebellar ataxia DISEASE H00063 Spinocerebellar ataxia (SCA) REFERENCE PMID:11973625 AUTHORS Zuhlke C, Dalski A, Hellenbroich Y, Bubel S, Schwinger E, Burk K TITLE Spinocerebellar ataxia type 1 (SCA1): phenotype-genotype correlation studies in intermediate alleles. JOURNAL Eur J Hum Genet 10:204-9 (2002) DOI:10.1038/sj.ejhg.5200788 REFERENCE PMID:7951322 AUTHORS Banfi S, Servadio A, Chung MY, Kwiatkowski TJ Jr, McCall AE, Duvick LA, Shen Y, Roth EJ, Orr HT, Zoghbi HY TITLE Identification and characterization of the gene causing type 1 spinocerebellar ataxia. JOURNAL Nat Genet 7:513-20 (1994) DOI:10.1038/ng0894-513 REFERENCE PMID:8358429 AUTHORS Orr HT, Chung MY, Banfi S, Kwiatkowski TJ Jr, Servadio A, Beaudet AL, McCall AE, Duvick LA, Ranum LP, Zoghbi HY TITLE Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. JOURNAL Nat Genet 4:221-6 (1993) DOI:10.1038/ng0793-221 /// ENTRY 6311v1 Variant NAME ATXN2 mutation GENE ATXN2 ataxin 2 [KO:K23625] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 601517 NETWORK nt06462 Spinocerebellar ataxia nt06466 Pathways of neurodegeneration DISEASE H00063 Spinocerebellar ataxia (SCA) REFERENCE PMID:20301452 AUTHORS Pulst SM TITLE Spinocerebellar Ataxia Type 2 JOURNAL GeneReviews (1993) /// ENTRY 6342v1 Variant NAME SCP2 deficiency GENE SCP2 sterol carrier protein 2 [KO:K08764] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 184755 NETWORK nt06021 beta-Oxidation in peroxisome DISEASE H00874 Leukoencephalopathy with dystonia and motor neuropathy REFERENCE PMID:16685654 AUTHORS Ferdinandusse S, Kostopoulos P, Denis S, Rusch H, Overmars H, Dillmann U, Reith W, Haas D, Wanders RJ, Duran M, Marziniak M TITLE Mutations in the gene encoding peroxisomal sterol carrier protein X (SCPx) cause leukencephalopathy with dystonia and motor neuropathy. JOURNAL Am J Hum Genet 78:1046-52 (2006) DOI:10.1086/503921 /// ENTRY 6389v1 Variant NAME SDHA deficiency GENE SDHA succinate dehydrogenase complex flavoprotein subunit A [KO:K00234] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 600857 NETWORK nt06031 Citrate cycle and pyruvate metabolism nt06529 Thermogenesis DISEASE H02005 Mitochondrial complex II deficiency REFERENCE PMID:22972948 AUTHORS Alston CL, Davison JE, Meloni F, van der Westhuizen FH, He L, Hornig-Do HT, Peet AC, Gissen P, Goffrini P, Ferrero I, Wassmer E, McFarland R, Taylor RW TITLE Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency. JOURNAL J Med Genet 49:569-77 (2012) DOI:10.1136/jmedgenet-2012-101146 /// ENTRY 6390v1 Variant NAME SDHB deficiency GENE SDHB succinate dehydrogenase complex iron sulfur subunit B [KO:K00235] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 185470 NETWORK nt06031 Citrate cycle and pyruvate metabolism nt06529 Thermogenesis DISEASE H02005 Mitochondrial complex II deficiency REFERENCE PMID:22972948 AUTHORS Alston CL, Davison JE, Meloni F, van der Westhuizen FH, He L, Hornig-Do HT, Peet AC, Gissen P, Goffrini P, Ferrero I, Wassmer E, McFarland R, Taylor RW TITLE Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency. JOURNAL J Med Genet 49:569-77 (2012) DOI:10.1136/jmedgenet-2012-101146 /// ENTRY 6392v1 Variant NAME SDHD deficiency GENE SDHD succinate dehydrogenase complex subunit D [KO:K00237] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 602690 NETWORK nt06031 Citrate cycle and pyruvate metabolism nt06529 Thermogenesis DISEASE H02005 Mitochondrial complex II deficiency REFERENCE PMID:24367056 AUTHORS Jackson CB, Nuoffer JM, Hahn D, Prokisch H, Haberberger B, Gautschi M, Haberli A, Gallati S, Schaller A TITLE Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency. JOURNAL J Med Genet 51:170-5 (2014) DOI:10.1136/jmedgenet-2013-101932 /// ENTRY 64087v1 Variant NAME MCCC2 deficiency GENE MCCC2 methylcrotonyl-CoA carboxylase subunit 2 [KO:K01969] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 609014 NETWORK nt06024 Valine, leucine and isoleucine degradation DISEASE H00181 3-Methylcrotonylglycinuria REFERENCE PMID:11181649 AUTHORS Baumgartner MR, Almashanu S, Suormala T, Obie C, Cole RN, Packman S, Baumgartner ER, Valle D TITLE The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. JOURNAL J Clin Invest 107:495-504 (2001) DOI:10.1172/JCI11948 /// ENTRY 64127v1 Variant NAME NOD2 mutation GENE NOD2 nucleotide binding oligomerization domain containing 2 [KO:K10165] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 605956 NETWORK nt06521 NLR signaling DISEASE H00285 Blau syndrome H01227 Inflammatory bowel disease (IBD) REFERENCE PMID:19381138 AUTHORS Philpott DJ, Girardin SE TITLE Crohn's disease-associated Nod2 mutants reduce IL10 transcription. JOURNAL Nat Immunol 10:455-7 (2009) DOI:10.1038/ni0509-455 REFERENCE PMID:34635190 AUTHORS Masumoto J, Zhou W, Morikawa S, Hosokawa S, Taguchi H, Yamamoto T, Kurata M, Kaneko N TITLE Molecular biology of autoinflammatory diseases. JOURNAL Inflamm Regen 41:33 (2021) DOI:10.1186/s41232-021-00181-8 /// ENTRY 64131v1 Variant NAME XYLT1 mutation GENE XYLT1 xylosyltransferase 1 [KO:K00771] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 608124 NETWORK nt06029 Glycosaminoglycan biosynthesis DISEASE H00494 Desbuquois syndrome REFERENCE PMID:24581741 AUTHORS Bui C, Huber C, Tuysuz B, Alanay Y, Bole-Feysot C, Leroy JG, Mortier G, Nitschke P, Munnich A, Cormier-Daire V TITLE XYLT1 mutations in Desbuquois dysplasia type 2. JOURNAL Am J Hum Genet 94:405-14 (2014) DOI:10.1016/j.ajhg.2014.01.020 REFERENCE PMID:16571645 AUTHORS Schon S, Schulz V, Prante C, Hendig D, Szliska C, Kuhn J, Kleesiek K, Gotting C TITLE Polymorphisms in the xylosyltransferase genes cause higher serum XT-I activity in patients with pseudoxanthoma elasticum (PXE) and are involved in a severe disease course. JOURNAL J Med Genet 43:745-9 (2006) DOI:10.1136/jmg.2006.040972 /// ENTRY 64132v1 Variant NAME XYLT2 mutation GENE XYLT2 xylosyltransferase 2 [KO:K00771] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 608125 NETWORK nt06029 Glycosaminoglycan biosynthesis DISEASE H01496 Spondyloocular syndrome REFERENCE PMID:26027496 AUTHORS Munns CF, Fahiminiya S, Poudel N, Munteanu MC, Majewski J, Sillence DO, Metcalf JP, Biggin A, Glorieux F, Fassier F, Rauch F, Hinsdale ME TITLE Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defects. JOURNAL Am J Hum Genet 96:971-8 (2015) DOI:10.1016/j.ajhg.2015.04.017 /// ENTRY 64135v1 Variant NAME IFIH1 mutation GENE IFIH1 interferon induced with helicase C domain 1 [KO:K12647] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 606951 NETWORK nt06519 RLR signaling DISEASE H00290 Aicardi-Goutieres syndrome H01571 Singleton-Merten syndrome H02525 Disorders of innate immunity REFERENCE PMID:34671122 AUTHORS Crow YJ, Stetson DB TITLE The type I interferonopathies: 10 years on. JOURNAL Nat Rev Immunol 22:471-483 (2022) DOI:10.1038/s41577-021-00633-9 REFERENCE PMID:34635190 AUTHORS Masumoto J, Zhou W, Morikawa S, Hosokawa S, Taguchi H, Yamamoto T, Kurata M, Kaneko N TITLE Molecular biology of autoinflammatory diseases. JOURNAL Inflamm Regen 41:33 (2021) DOI:10.1186/s41232-021-00181-8 REFERENCE PMID:28722725 AUTHORS Manthiram K, Zhou Q, Aksentijevich I, Kastner DL TITLE The monogenic autoinflammatory diseases define new pathways in human innate immunity and inflammation. JOURNAL Nat Immunol 18:832-842 (2017) DOI:10.1038/ni.3777 REFERENCE PMID:28606988 AUTHORS Lamborn IT, Jing H, Zhang Y, Drutman SB, Abbott JK, Munir S, Bade S, Murdock HM, Santos CP, Brock LG, Masutani E, Fordjour EY, McElwee JJ, Hughes JD, Nichols DP, Belkadi A, Oler AJ, Happel CS, Matthews HF, Abel L, Collins PL, Subbarao K, Gelfand EW, Ciancanelli MJ, Casanova JL, Su HC TITLE Recurrent rhinovirus infections in a child with inherited MDA5 deficiency. JOURNAL J Exp Med 214:1949-1972 (2017) DOI:10.1084/jem.20161759 /// ENTRY 641v1 Variant NAME BLM mutation GENE BLM BLM RecQ like helicase [KO:K10901] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 604610 NETWORK nt06506 Double-strand break repair DISEASE H00296 Defects in RecQ helicases H01346 Bloom syndrome H02492 Microcephaly, growth restriction, and increased sister chromatid exchange REFERENCE PMID:17407155 AUTHORS German J, Sanz MM, Ciocci S, Ye TZ, Ellis NA TITLE Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry. JOURNAL Hum Mutat 28:743-53 (2007) DOI:10.1002/humu.20501 REFERENCE PMID:33777104 AUTHORS Kaur E, Agrawal R, Sengupta S TITLE Functions of BLM Helicase in Cells: Is It Acting Like a Double-Edged Sword? JOURNAL Front Genet 12:634789 (2021) DOI:10.3389/fgene.2021.634789 /// ENTRY 6424v1 Variant NAME SFRP4 mutation GENE SFRP4 secreted frizzled related protein 4 [KO:K02185] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 606570 NETWORK nt06505 WNT signaling DISEASE H00479 Metaphyseal dysplasias REFERENCE PMID:32328030 AUTHORS Huybrechts Y, Mortier G, Boudin E, Van Hul W TITLE WNT Signaling and Bone: Lessons From Skeletal Dysplasias and Disorders. JOURNAL Front Endocrinol (Lausanne) 11:165 (2020) DOI:10.3389/fendo.2020.00165 /// ENTRY 64359v1 Variant NAME NXN mutation GENE NXN nucleoredoxin [KO:K17609] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 612895 NETWORK nt06505 WNT signaling DISEASE H00485 Robinow syndrome REFERENCE PMID:32328030 AUTHORS Huybrechts Y, Mortier G, Boudin E, Van Hul W TITLE WNT Signaling and Bone: Lessons From Skeletal Dysplasias and Disorders. JOURNAL Front Endocrinol (Lausanne) 11:165 (2020) DOI:10.3389/fendo.2020.00165 /// ENTRY 64388v1 Variant NAME GREM2 mutation GENE GREM2 gremlin 2, DAN family BMP antagonist [KO:K23318] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 608832 NETWORK nt06507 TGFB signaling DISEASE H00625 Tooth agenesis REFERENCE PMID:29969831 AUTHORS Yu M, Wong SW, Han D, Cai T TITLE Genetic analysis: Wnt and other pathways in nonsyndromic tooth agenesis. JOURNAL Oral Dis 25:646-651 (2019) DOI:10.1111/odi.12931 /// ENTRY 64421v1 Variant NAME ARTEMIS mutation GENE DCLRE1C DNA cross-link repair 1C [KO:K10887] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 605988 NETWORK nt06506 Double-strand break repair DISEASE H00092 T-B-Severe combined immunodeficiency H02554 Omenn syndrome REFERENCE PMID:15731174 AUTHORS Ege M, Ma Y, Manfras B, Kalwak K, Lu H, Lieber MR, Schwarz K, Pannicke U TITLE Omenn syndrome due to ARTEMIS mutations. JOURNAL Blood 105:4179-86 (2005) DOI:10.1182/blood-2004-12-4861 REFERENCE PMID:29051008 AUTHORS Al-Herz W, Massaad MJ, Chou J, Notarangelo LD, Geha RS TITLE DNA recombination defects in Kuwait: Clinical, immunologic and genetic profile. JOURNAL Clin Immunol 187:68-75 (2018) DOI:10.1016/j.clim.2017.10.006 /// ENTRY 6448v1 Variant NAME SGSH deficiency GENE SGSH N-sulfoglucosamine sulfohydrolase [KO:K01565] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 605270 NETWORK nt06012 Glycosaminoglycan degradation DISEASE H00130 Mucopolysaccharidosis type III REFERENCE PMID:27896117 AUTHORS Ribeiro EM, Brusius-Facchin AC, Leistner-Segal S, da Silva CA, Schwartz IV TITLE Cardiac disease as the presenting feature of mucopolysaccharidosis type IIIA: A case report. JOURNAL Mol Genet Metab Rep 1:422-424 (2014) DOI:10.1016/j.ymgmr.2014.09.003 /// ENTRY 64682v1 Variant NAME ANAPC1 mutation GENE ANAPC1 anaphase promoting complex subunit 1 [KO:K03348] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 608473 NETWORK nt06512 Chromosome cohesion and segregation DISEASE H01734 Rothmund-Thomson syndrome REFERENCE PMID:31303264 AUTHORS Ajeawung NF, Nguyen TTM, Lu L, Kucharski TJ, Rousseau J, Molidperee S, Atienza J, Gamache I, Jin W, Plon SE, Lee BH, Teodoro JG, Wang LL, Campeau PM TITLE Mutations in ANAPC1, Encoding a Scaffold Subunit of the Anaphase-Promoting Complex, Cause Rothmund-Thomson Syndrome Type 1. JOURNAL Am J Hum Genet 105:625-630 (2019) DOI:10.1016/j.ajhg.2019.06.011 /// ENTRY 6469v1 Variant NAME SHH mutation GENE SHH sonic hedgehog signaling molecule [KO:K11988] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutation H133Y COSM: 4492424 REFERENCE PMID:9115210 AUTHORS Oro AE, Higgins KM, Hu Z, Bonifas JM, Epstein EH Jr, Scott MP TITLE Basal cell carcinomas in mice overexpressing sonic hedgehog. JOURNAL Science 276:817-21 (1997) DOI:10.1126/science.276.5313.817 REFERENCE PMID:15978322 AUTHORS Daya-Grosjean L, Couve-Privat S. TITLE Sonic hedgehog signaling in basal cell carcinomas. JOURNAL Cancer Lett 225:181-92 (2005) DOI:10.1016/j.canlet.2004.10.003 REFERENCE PMID:10537006 AUTHORS Aszterbaum M, Beech J, Epstein EH Jr TITLE Ultraviolet radiation mutagenesis of hedgehog pathway genes in basal cell carcinomas. JOURNAL J Investig Dermatol Symp Proc 4:41-5 (1999) DOI:10.1038/sj.jidsp.5640179 /// ENTRY 6469v2 Variant NAME SHH mutation GENE SHH sonic hedgehog signaling molecule [KO:K11988] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 600725 NETWORK nt06501 HH signaling DISEASE H00267 Holoprosencephaly H01027 Microphthalmia REFERENCE PMID:31781166 AUTHORS Sasai N, Toriyama M, Kondo T TITLE Hedgehog Signal and Genetic Disorders. JOURNAL Front Genet 10:1103 (2019) DOI:10.3389/fgene.2019.01103 /// ENTRY 6476v1 Variant NAME SI deficiency GENE SI sucrase-isomaltase [KO:K01203] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 609845 DRUG_TARGET Sacrosidase: D05782 /// ENTRY 64840v1 Variant NAME PORCN mutation GENE PORCN porcupine O-acyltransferase [KO:K00181] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 300651 NETWORK nt06505 WNT signaling DISEASE H00949 Focal dermal hypoplasia REFERENCE PMID:33919228 AUTHORS Guasto A, Cormier-Daire V TITLE Signaling Pathways in Bone Development and Their Related Skeletal Dysplasia. JOURNAL Int J Mol Sci 22:4321 (2021) DOI:10.3390/ijms22094321 /// ENTRY 65018v1 Variant NAME PINK1 mutation GENE PINK1 PTEN induced kinase 1 [KO:K05688] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 608309 NETWORK nt06463 Parkinson disease nt06466 Pathways of neurodegeneration DISEASE H00057 Parkinson disease REFERENCE PMID:16207731 AUTHORS Silvestri L, Caputo V, Bellacchio E, Atorino L, Dallapiccola B, Valente EM, Casari G TITLE Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism. JOURNAL Hum Mol Genet 14:3477-92 (2005) DOI:10.1093/hmg/ddi377 REFERENCE PMID:15349870 AUTHORS Hatano Y, Li Y, Sato K, Asakawa S, Yamamura Y, Tomiyama H, Yoshino H, Asahina M, Kobayashi S, Hassin-Baer S, Lu CS, Ng AR, Rosales RL, Shimizu N, Toda T, Mizuno Y, Hattori N TITLE Novel PINK1 mutations in early-onset parkinsonism. JOURNAL Ann Neurol 56:424-7 (2004) DOI:10.1002/ana.20251 /// ENTRY 65057v1 Variant NAME ACD mutation GENE ACD ACD shelterin complex subunit and telomerase recruitment factor [KO:K11114] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 609377 NETWORK nt06510 Telomere length regulation DISEASE H00507 Dyskeratosis congenita REFERENCE PMID:25205116 AUTHORS Guo Y, Kartawinata M, Li J, Pickett HA, Teo J, Kilo T, Barbaro PM, Keating B, Chen Y, Tian L, Al-Odaib A, Reddel RR, Christodoulou J, Xu X, Hakonarson H, Bryan TM TITLE Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1. JOURNAL Blood 124:2767-74 (2014) DOI:10.1182/blood-2014-08-596445 /// ENTRY 650v1 Variant NAME BMP2 mutation GENE BMP2 bone morphogenetic protein 2 [KO:K21283] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 112261 NETWORK nt06507 TGFB signaling DISEASE H00482 Brachydactyly REFERENCE PMID:30246251 AUTHORS Gomez-Puerto MC, Iyengar PV, Garcia de Vinuesa A, Ten Dijke P, Sanchez-Duffhues G TITLE Bone morphogenetic protein receptor signal transduction in human disease. JOURNAL J Pathol 247:9-20 (2019) DOI:10.1002/path.5170 /// ENTRY 6514v1 Variant NAME SLC2A2 mutation GENE SLC2A2 solute carrier family 2 member 2 [KO:K07593] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 138160 NETWORK nt06017 Glycogen metabolism DISEASE H01947 Fanconi-Bickel syndrome REFERENCE PMID:9354798 AUTHORS Santer R, Schneppenheim R, Dombrowski A, Gotze H, Steinmann B, Schaub J TITLE Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome. JOURNAL Nat Genet 17:324-6 (1997) DOI:10.1038/ng1197-324 /// ENTRY 6528v1 Variant NAME SLC5A5 mutation GENE SLC5A5 solute carrier family 5 member 5 [KO:K14385] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 601843 NETWORK nt06322 TRH-TSH-TH signaling DISEASE H00251 Thyroid dyshormonogenesis REFERENCE PMID:9398697 AUTHORS Matsuda A, Kosugi S TITLE A homozygous missense mutation of the sodium/iodide symporter gene causing iodide transport defect. JOURNAL J Clin Endocrinol Metab 82:3966-71 (1997) DOI:10.1210/jcem.82.12.4425 REFERENCE PMID:9388506 AUTHORS Pohlenz J, Medeiros-Neto G, Gross JL, Silveiro SP, Knobel M, Refetoff S TITLE Hypothyroidism in a Brazilian kindred due to iodide trapping defect caused by a homozygous mutation in the sodium/iodide symporter gene. JOURNAL Biochem Biophys Res Commun 240:488-91 (1997) DOI:10.1006/bbrc.1997.7594 REFERENCE PMID:9486973 AUTHORS Pohlenz J, Rosenthal IM, Weiss RE, Jhiang SM, Burant C, Refetoff S TITLE Congenital hypothyroidism due to mutations in the sodium/iodide symporter. Identification of a nonsense mutation producing a downstream cryptic 3' splice site. JOURNAL J Clin Invest 101:1028-35 (1998) DOI:10.1172/JCI1504 REFERENCE PMID:30324792 AUTHORS Peters C, van Trotsenburg ASP, Schoenmakers N TITLE DIAGNOSIS OF ENDOCRINE DISEASE: Congenital hypothyroidism: update and perspectives JOURNAL Eur J Endocrinol 179:R297-R317 (2018) DOI:10.1530/EJE-18-0383 REFERENCE PMID:15611820 AUTHORS Vono-Toniolo J, Kopp P TITLE Thyroglobulin gene mutations and other genetic defects associated with congenital hypothyroidism. JOURNAL Arq Bras Endocrinol Metabol 48:70-82 (2004) DOI:10.1590/S0004-27302004000100009 REFERENCE PMID:12588808 AUTHORS Dohan O, De la Vieja A, Paroder V, Riedel C, Artani M, Reed M, Ginter CS, Carrasco N TITLE The sodium/iodide Symporter (NIS): characterization, regulation, and medical significance. JOURNAL Endocr Rev 24:48-77 (2003) DOI:10.1210/er.2001-0029 /// ENTRY 6535v1 Variant NAME SLC6A8 deficiency GENE SLC6A8 solute carrier family 6 member 8 [KO:K05041] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 300036 NETWORK nt06033 Glycine, serine and arginine metabolism DISEASE H00849 Cerebral creatine deficiency syndrome REFERENCE PMID:11326334 AUTHORS Salomons GS, van Dooren SJ, Verhoeven NM, Cecil KM, Ball WS, Degrauw TJ, Jakobs C TITLE X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome. JOURNAL Am J Hum Genet 68:1497-500 (2001) DOI:10.1086/320595 /// ENTRY 6567v1 Variant NAME SLC16A2 mutation GENE SLC16A2 solute carrier family 16 member 2 [KO:K08231] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 300095 NETWORK nt06322 TRH-TSH-TH signaling DISEASE H00650 Allan-Herndon-Dudley syndrome REFERENCE PMID:27081503 AUTHORS Yamamoto T, Shimojima K, Umemura A, Uematsu M, Nakayama T, Inoue K TITLE SLC16A2 mutations in two Japanese patients with Allan-Herndon-Dudley syndrome. JOURNAL Hum Genome Var 1:14010 (2014) DOI:10.1038/hgv.2014.10 REFERENCE PMID:25905294 AUTHORS Dumitrescu AM, Refetoff S TITLE Impaired Sensitivity to Thyroid Hormone: Defects of Transport, Metabolism and Action JOURNAL Endotext (2000) REFERENCE PMID:27805744 AUTHORS Novara F, Groeneweg S, Freri E, Estienne M, Reho P, Matricardi S, Castellotti B, Visser WE, Zuffardi O, Visser TJ TITLE Clinical and Molecular Characteristics of SLC16A2 (MCT8) Mutations in Three Families with the Allan-Herndon-Dudley Syndrome. JOURNAL Hum Mutat 38:260-264 (2017) DOI:10.1002/humu.23140 /// ENTRY 657v1 Variant NAME BMPR1A mutation GENE BMPR1A bone morphogenetic protein receptor type 1A [KO:K04673] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 601299 NETWORK nt06507 TGFB signaling DISEASE H01023 Juvenile polyposis syndrome H01024 Hereditary mixed polyposis syndrome REFERENCE PMID:25097590 AUTHORS Cichy W, Klincewicz B, Plawski A TITLE Juvenile polyposis syndrome. JOURNAL Arch Med Sci 10:570-7 (2014) DOI:10.5114/aoms.2014.43750 /// ENTRY 6584v1 Variant NAME SLC22A5 mutation GENE SLC22A5 solute carrier family 22 member 5 [KO:K08202] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 603377 NETWORK nt06020 beta-Oxidation in mitochondria DISEASE H01589 Systemic primary carnitine deficiency REFERENCE PMID:9916797 AUTHORS Nezu J, Tamai I, Oku A, Ohashi R, Yabuuchi H, Hashimoto N, Nikaido H, Sai Y, Koizumi A, Shoji Y, Takada G, Matsuishi T, Yoshino M, Kato H, Ohura T, Tsujimoto G, Hayakawa J, Shimane M, Tsuji A TITLE Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter. JOURNAL Nat Genet 21:91-4 (1999) DOI:10.1038/5030 /// ENTRY 658v1 Variant NAME BMPR1B mutation GENE BMPR1B bone morphogenetic protein receptor type 1B [KO:K13578] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 603248 NETWORK nt06507 TGFB signaling DISEASE H00482 Brachydactyly H02543 Acromesomelic dysplasia REFERENCE PMID:32522605 AUTHORS Sanchez-Duffhues G, Williams E, Goumans MJ, Heldin CH, Ten Dijke P TITLE Bone morphogenetic protein receptors: Structure, function and targeting by selective small molecule kinase inhibitors. JOURNAL Bone 138:115472 (2020) DOI:10.1016/j.bone.2020.115472 /// ENTRY 659v1 Variant NAME BMPR2 mutation GENE BMPR2 bone morphogenetic protein receptor type 2 [KO:K04671] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 600799 NETWORK nt06507 TGFB signaling DISEASE H01619 Primary pulmonary hypertension REFERENCE PMID:31406341 AUTHORS Southgate L, Machado RD, Graf S, Morrell NW TITLE Molecular genetic framework underlying pulmonary arterial hypertension. JOURNAL Nat Rev Cardiol 17:85-95 (2020) DOI:10.1038/s41569-019-0242-x REFERENCE PMID:30545973 AUTHORS Morrell NW, Aldred MA, Chung WK, Elliott CG, Nichols WC, Soubrier F, Trembath RC, Loyd JE TITLE Genetics and genomics of pulmonary arterial hypertension. JOURNAL Eur Respir J 53:1801899 (2019) DOI:10.1183/13993003.01899-2018 /// ENTRY 6608v1 Variant NAME SMO mutation GENE SMO smoothened, frizzled class receptor [KO:K06226] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutation W535L ClinVar: 8117 dbSNP: rs121918347 COSM: 13146 VARIATION mutation R562Q ClinVar: 8118 dbSNP: rs121918348 COSM: 13152 NETWORK nt06217 HH signaling nt06269 Basal cell carcinoma nt06501 HH signaling DISEASE H00039 Basal cell carcinoma REFERENCE PMID:9989836 AUTHORS Lam CW, Xie J, To KF, Ng HK, Lee KC, Yuen NW, Lim PL, Chan LY, Tong SF, McCormick F TITLE A frequent activated smoothened mutation in sporadic basal cell carcinomas. JOURNAL Oncogene 18:833-6 (1999) DOI:10.1038/sj.onc.1202360 REFERENCE PMID:9581815 AUTHORS Reifenberger J, Wolter M, Weber RG, Megahed M, Ruzicka T, Lichter P, Reifenberger G TITLE Missense mutations in SMOH in sporadic basal cell carcinomas of the skin and primitive neuroectodermal tumors of the central nervous system. JOURNAL Cancer Res 58:1798-803 (1998) REFERENCE PMID:9422511 AUTHORS Xie J, Murone M, Luoh SM, Ryan A, Gu Q, Zhang C, Bonifas JM, Lam CW, Hynes M, Goddard A, Rosenthal A, Epstein EH Jr, de Sauvage FJ TITLE Activating Smoothened mutations in sporadic basal-cell carcinoma. JOURNAL Nature 391:90-2 (1998) DOI:10.1038/34201 /// ENTRY 6609v1 Variant NAME SMPD1 deficiency GENE SMPD1 sphingomyelin phosphodiesterase 1 [KO:K12350] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 607608 NETWORK nt06014 Sphingolipid degradation DISEASE H00137 Niemann-Pick disease type A/B DRUG_TARGET Olipudase alfa: D10820 REFERENCE PMID:2023926 AUTHORS Levran O, Desnick RJ, Schuchman EH TITLE Niemann-Pick disease: a frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patients. JOURNAL Proc Natl Acad Sci U S A 88:3748-52 (1991) DOI:10.1073/pnas.88.9.3748 /// ENTRY 6611v1 Variant NAME SMS deficiency GENE SMS spermine synthase [KO:K00802] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 300105 NETWORK nt06033 Glycine, serine and arginine metabolism DISEASE H00597 Snyder-Robinson syndrome REFERENCE PMID:19206178 AUTHORS Becerra-Solano LE, Butler J, Castaneda-Cisneros G, McCloskey DE, Wang X, Pegg AE, Schwartz CE, Sanchez-Corona J, Garcia-Ortiz JE TITLE A missense mutation, p.V132G, in the X-linked spermine synthase gene (SMS) causes Snyder-Robinson syndrome. JOURNAL Am J Med Genet A 149A:328-35 (2009) DOI:10.1002/ajmg.a.32641 /// ENTRY 6622v1 Variant NAME SNCA mutation GENE SNCA synuclein alpha [KO:K04528] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 163890 NETWORK nt06028 Dopamine and serotonin metabolism nt06463 Parkinson disease nt06466 Pathways of neurodegeneration nt06534 Unfolded protein response DISEASE H00057 Parkinson disease REFERENCE PMID:10417297 AUTHORS Athanassiadou A, Voutsinas G, Psiouri L, Leroy E, Polymeropoulos MH, Ilias A, Maniatis GM, Papapetropoulos T TITLE Genetic analysis of families with Parkinson disease that carry the Ala53Thr mutation in the gene encoding alpha-synuclein. JOURNAL Am J Hum Genet 65:555-8 (1999) DOI:10.1086/302486 REFERENCE PMID:9462735 AUTHORS Kruger R, Kuhn W, Muller T, Woitalla D, Graeber M, Kosel S, Przuntek H, Epplen JT, Schols L, Riess O TITLE Ala30Pro mutation in the gene encoding alpha-synuclein in Parkinson's disease. JOURNAL Nat Genet 18:106-8 (1998) DOI:10.1038/ng0298-106 REFERENCE PMID:23526723 AUTHORS Lesage S, Anheim M, Letournel F, Bousset L, Honore A, Rozas N, Pieri L, Madiona K, Durr A, Melki R, Verny C, Brice A TITLE G51D alpha-synuclein mutation causes a novel parkinsonian-pyramidal syndrome. JOURNAL Ann Neurol 73:459-71 (2013) DOI:10.1002/ana.23894 /// ENTRY 6647v1 Variant NAME SOD1 mutation GENE SOD1 superoxide dismutase 1 [KO:K04565] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 147450 NETWORK nt06464 Amyotrophic lateral sclerosis nt06466 Pathways of neurodegeneration nt06534 Unfolded protein response DISEASE H00058 Amyotrophic lateral sclerosis (ALS) DRUG_TARGET Tofersen: D11811 REFERENCE PMID:29605155 AUTHORS Nguyen HP, Van Broeckhoven C, van der Zee J TITLE ALS Genes in the Genomic Era and their Implications for FTD. JOURNAL Trends Genet 34:404-423 (2018) DOI:10.1016/j.tig.2018.03.001 REFERENCE PMID:28852382 AUTHORS Khalil B, Lievens JC TITLE Mitochondrial quality control in amyotrophic lateral sclerosis: towards a common pathway? JOURNAL Neural Regen Res 12:1052-1061 (2017) DOI:10.4103/1673-5374.211179 /// ENTRY 6654v1 Variant NAME SOS1 mutation GENE SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 [KO:K03099] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 182530 NETWORK nt06526 MAPK signaling DISEASE H01250 Hereditary gingival fibromatosis H01738 Noonan syndrome REFERENCE PMID:36394128 AUTHORS Tartaglia M, Aoki Y, Gelb BD TITLE The molecular genetics of RASopathies: An update on novel disease genes and new disorders. JOURNAL Am J Med Genet C Semin Med Genet 190:425-439 (2022) DOI:10.1002/ajmg.c.32012 REFERENCE PMID:34175492 AUTHORS Riller Q, Rieux-Laucat F TITLE RASopathies: From germline mutations to somatic and multigenic diseases. JOURNAL Biomed J 44:422-432 (2021) DOI:10.1016/j.bj.2021.06.004 /// ENTRY 6655v1 Variant NAME SOS2 mutation GENE SOS2 SOS Ras/Rho guanine nucleotide exchange factor 2 [KO:K03099] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 601247 NETWORK nt06526 MAPK signaling DISEASE H01738 Noonan syndrome REFERENCE PMID:36394128 AUTHORS Tartaglia M, Aoki Y, Gelb BD TITLE The molecular genetics of RASopathies: An update on novel disease genes and new disorders. JOURNAL Am J Med Genet C Semin Med Genet 190:425-439 (2022) DOI:10.1002/ajmg.c.32012 /// ENTRY 6697v1 Variant NAME SPR deficiency GENE SPR sepiapterin reductase [KO:K00072] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 182125 NETWORK nt06028 Dopamine and serotonin metabolism DISEASE H02597 Sepiapterin reductase deficiency REFERENCE PMID:21431957 AUTHORS Arrabal L, Teresa L, Sanchez-Alcudia R, Castro M, Medrano C, Gutierrez-Solana L, Roldan S, Ormazabal A, Perez-Cerda C, Merinero B, Perez B, Artuch R, Ugarte M, Desviat LR TITLE Genotype-phenotype correlations in sepiapterin reductase deficiency. A splicing defect accounts for a new phenotypic variant. JOURNAL Neurogenetics 12:183-91 (2011) DOI:10.1007/s10048-011-0279-4 REFERENCE PMID:11443547 AUTHORS Bonafe L, Thony B, Penzien JM, Czarnecki B, Blau N TITLE Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia. JOURNAL Am J Hum Genet 69:269-77 (2001) DOI:10.1086/321970 /// ENTRY 6712v1 Variant NAME SPTBN2 mutation GENE SPTBN2 spectrin beta, non-erythrocytic 2 [KO:K23932] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 604985 NETWORK nt06462 Spinocerebellar ataxia nt06466 Pathways of neurodegeneration DISEASE H00063 Spinocerebellar ataxia (SCA) REFERENCE PMID:16429157 AUTHORS Ikeda Y, Dick KA, Weatherspoon MR, Gincel D, Armbrust KR, Dalton JC, Stevanin G, Durr A, Zuhlke C, Burk K, Clark HB, Brice A, Rothstein JD, Schut LJ, Day JW, Ranum LP TITLE Spectrin mutations cause spinocerebellar ataxia type 5. JOURNAL Nat Genet 38:184-90 (2006) DOI:10.1038/ng1728 REFERENCE PMID:29777722 AUTHORS Hisatsune C, Hamada K, Mikoshiba K TITLE Ca(2+) signaling and spinocerebellar ataxia. JOURNAL Biochim Biophys Acta Mol Cell Res 1865:1733-1744 (2018) DOI:10.1016/j.bbamcr.2018.05.009 /// ENTRY 6716v1 Variant NAME SRD5A2 deficiency GENE SRD5A2 steroid 5 alpha-reductase 2 [KO:K12344] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 607306 NETWORK nt06019 Steroid hormone biosynthesis DISEASE H00608 46,XY disorder of sex development due to testosterone secretion defect REFERENCE PMID:8626825 AUTHORS Cai LQ, Zhu YS, Katz MD, Herrera C, Baez J, DeFillo-Ricart M, Shackleton CH, Imperato-McGinley J TITLE 5 alpha-reductase-2 gene mutations in the Dominican Republic. JOURNAL J Clin Endocrinol Metab 81:1730-5 (1996) DOI:10.1210/jcem.81.5.8626825 /// ENTRY 6718v1 Variant NAME AKR1D1 deficiency GENE AKR1D1 aldo-keto reductase family 1 member D1 [KO:K00251] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 604741 NETWORK nt06022 Bile acid biosynthesis DISEASE H00628 Congenital bile acid synthesis defect REFERENCE PMID:20522910 AUTHORS Drury JE, Mindnich R, Penning TM TITLE Characterization of disease-related 5beta-reductase (AKR1D1) mutations reveals their potential to cause bile acid deficiency. JOURNAL J Biol Chem 285:24529-37 (2010) DOI:10.1074/jbc.M110.127779 /// ENTRY 672v1 Variant NAME BRCA1 mutation GENE BRCA1 BRCA1 DNA repair associated [KO:K10605] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 113705 NETWORK nt06506 Double-strand break repair nt06508 Interstrand crosslink repair DISEASE H00019 Pancreatic cancer H00031 Breast cancer H00238 Fanconi anemia H02531 Familial breast-ovarian cancer REFERENCE PMID:7894492 AUTHORS Simard J, Tonin P, Durocher F, Morgan K, Rommens J, Gingras S, Samson C, Leblanc JF, Belanger C, Dion F, et al. TITLE Common origins of BRCA1 mutations in Canadian breast and ovarian cancer families. JOURNAL Nat Genet 8:392-8 (1994) DOI:10.1038/ng1294-392 REFERENCE PMID:32094664 AUTHORS Tarsounas M, Sung P TITLE The antitumorigenic roles of BRCA1-BARD1 in DNA repair and replication. JOURNAL Nat Rev Mol Cell Biol 21:284-299 (2020) DOI:10.1038/s41580-020-0218-z /// ENTRY 673v1 Variant NAME BRAF mutation GENE BRAF B-Raf proto-oncogene, serine/threonine kinase [KO:K04365] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutation V600E ClinVar: 13961 376069 dbSNP: rs113488022 rs121913377 COSM: 476 VARIATION mutation V600K ClinVar: 375941 dbSNP: rs121913227 NETWORK nt06210 ERK signaling nt06268 Melanoma nt06274 Thyroid cancer nt06526 MAPK signaling DISEASE H00032 Thyroid cancer H00038 Melanoma DRUG_TARGET Dabrafenib (DG00721): D10104 Encorafenib: D11053 Vemurafenib: D09996 REFERENCE PMID:16557281 AUTHORS Kondo T, Ezzat S, Asa SL. TITLE Pathogenetic mechanisms in thyroid follicular-cell neoplasia. JOURNAL Nat Rev Cancer 6:292-306 (2006) DOI:10.1038/nrc1836 REFERENCE PMID:25961545 AUTHORS Li DD, Zhang YF, Xu HX, Zhang XP TITLE The role of BRAF in the pathogenesis of thyroid carcinoma. JOURNAL Front Biosci (Landmark Ed) 20:1068-78 (2015) DOI:10.2741/4359 REFERENCE PMID:28278349 AUTHORS Richtig G, Hoeller C, Kashofer K, Aigelsreiter A, Heinemann A, Kwong LN, Pichler M, Richtig E TITLE Beyond the BRAF(V)(600E) hotspot: biology and clinical implications of rare BRAF gene mutations in melanoma patients. JOURNAL Br J Dermatol 177:936-944 (2017) DOI:10.1111/bjd.15436 REFERENCE PMID:26825657 AUTHORS Guadarrama-Orozco JA, Ortega-Gomez A, Ruiz-Garcia EB, Astudillo-de la Vega H, Meneses-Garcia A, Lopez-Camarillo C TITLE Braf V600E mutation in melanoma: translational current scenario. JOURNAL Clin Transl Oncol 18:863-71 (2016) DOI:10.1007/s12094-015-1469-6 REFERENCE PMID:22356324 AUTHORS Sosman JA, Kim KB, Schuchter L, Gonzalez R, Pavlick AC, Weber JS, McArthur GA, Hutson TE, Moschos SJ, Flaherty KT, Hersey P, Kefford R, Lawrence D, Puzanov I, Lewis KD, Amaravadi RK, Chmielowski B, Lawrence HJ, Shyr Y, Ye F, Li J, Nolop KB, Lee RJ, Joe AK, Ribas A TITLE Survival in BRAF V600-mutant advanced melanoma treated with vemurafenib. JOURNAL N Engl J Med 366:707-14 (2012) DOI:10.1056/NEJMoa1112302 /// ENTRY 673v2 Variant NAME BRAF mutation GENE BRAF B-Raf proto-oncogene, serine/threonine kinase [KO:K04365] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 164757 NETWORK nt06526 MAPK signaling DISEASE H01738 Noonan syndrome H01745 Cardiofaciocutaneous syndrome H01984 Leopard syndrome REFERENCE PMID:36394128 AUTHORS Tartaglia M, Aoki Y, Gelb BD TITLE The molecular genetics of RASopathies: An update on novel disease genes and new disorders. JOURNAL Am J Med Genet C Semin Med Genet 190:425-439 (2022) DOI:10.1002/ajmg.c.32012 REFERENCE PMID:34175492 AUTHORS Riller Q, Rieux-Laucat F TITLE RASopathies: From germline mutations to somatic and multigenic diseases. JOURNAL Biomed J 44:422-432 (2021) DOI:10.1016/j.bj.2021.06.004 REFERENCE PMID:36536400 AUTHORS Gao XM, Li J, Cao XX TITLE Signaling pathways, microenvironment, and targeted treatments in Langerhans cell histiocytosis. JOURNAL Cell Commun Signal 20:195 (2022) DOI:10.1186/s12964-022-00917-0 REFERENCE PMID:32591646 AUTHORS Pegoraro F, Papo M, Maniscalco V, Charlotte F, Haroche J, Vaglio A TITLE Erdheim-Chester disease: a rapidly evolving disease model. JOURNAL Leukemia 34:2840-2857 (2020) DOI:10.1038/s41375-020-0944-4 /// ENTRY 6756v1 Variant NAME SYT-SSX1 fusion GENE SSX1 SSX family member 1 [KO:K15624] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION translocation t(X;18)(p11;q11) COSF: 504 528 514 NETWORK nt06240 Transcription DISEASE H00050 Synovial sarcoma REFERENCE PMID:12951587 AUTHORS Helman LJ, Meltzer P. TITLE Mechanisms of sarcoma development. JOURNAL Nat Rev Cancer 3:685-94 (2003) DOI:10.1038/nrc1168 REFERENCE PMID:19734027 AUTHORS Thway K TITLE Pathology of soft tissue sarcomas. JOURNAL Clin Oncol (R Coll Radiol) 21:695-705 (2009) DOI:10.1016/j.clon.2009.07.016 /// ENTRY 6757v1 Variant NAME SYT-SSX2 fusion GENE SSX2 SSX family member 2 [KO:K15625] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION translocation t(X;18)(p11;q11) COSF: 501 587 530 NETWORK nt06240 Transcription DISEASE H00050 Synovial sarcoma REFERENCE PMID:12951587 AUTHORS Helman LJ, Meltzer P. TITLE Mechanisms of sarcoma development. JOURNAL Nat Rev Cancer 3:685-94 (2003) DOI:10.1038/nrc1168 REFERENCE PMID:19734027 AUTHORS Thway K TITLE Pathology of soft tissue sarcomas. JOURNAL Clin Oncol (R Coll Radiol) 21:695-705 (2009) DOI:10.1016/j.clon.2009.07.016 /// ENTRY 675v1 Variant NAME BRCA2 mutation GENE BRCA2 BRCA2 DNA repair associated [KO:K08775] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 600185 NETWORK nt06506 Double-strand break repair nt06508 Interstrand crosslink repair DISEASE H00019 Pancreatic cancer H00031 Breast cancer H00238 Fanconi anemia H02531 Familial breast-ovarian cancer REFERENCE PMID:8524414 AUTHORS Wooster R, Bignell G, Lancaster J, Swift S, Seal S, Mangion J, Collins N, Gregory S, Gumbs C, Micklem G TITLE Identification of the breast cancer susceptibility gene BRCA2. JOURNAL Nature 378:789-92 (1995) DOI:10.1038/378789a0 REFERENCE PMID:16950820 AUTHORS Casilli F, Tournier I, Sinilnikova OM, Coulet F, Soubrier F, Houdayer C, Hardouin A, Berthet P, Sobol H, Bourdon V, Muller D, Fricker JP, Capoulade-Metay C, Chompret A, Nogues C, Mazoyer S, Chappuis P, Maillet P, Philippe C, Lortholary A, Gesta P, Bezieau S, Toulas C, Gladieff L, Maugard CM, Provencher DM, Dugast C, Delvincourt C, Nguyen TD, Faivre L, Bonadona V, Frebourg T, Lidereau R, Stoppa-Lyonnet D, Tosi M TITLE The contribution of germline rearrangements to the spectrum of BRCA2 mutations. JOURNAL J Med Genet 43:e49 (2006) DOI:10.1136/jmg.2005.040212 /// ENTRY 6760v1 Variant NAME SYT-SSX fusion GENE SS18 SS18 subunit of BAF chromatin remodeling complex [KO:K15623] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION translocation t(X;18)(p11;q11) COSF: 504 528 514 501 587 530 NETWORK nt06240 Transcription DISEASE H00050 Synovial sarcoma REFERENCE PMID:12951587 AUTHORS Helman LJ, Meltzer P. TITLE Mechanisms of sarcoma development. JOURNAL Nat Rev Cancer 3:685-94 (2003) DOI:10.1038/nrc1168 REFERENCE PMID:19734027 AUTHORS Thway K TITLE Pathology of soft tissue sarcomas. JOURNAL Clin Oncol (R Coll Radiol) 21:695-705 (2009) DOI:10.1016/j.clon.2009.07.016 /// ENTRY 6772v1 Variant NAME STAT1 mutation GENE STAT1 signal transducer and activator of transcription 1 [KO:K11220] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 600555 NETWORK nt06518 JAK-STAT signaling DISEASE H00089 IFN-gamma/IL-12 axis H01109 Chronic mucocutaneous candidiasis REFERENCE PMID:34625141 AUTHORS Luo Y, Alexander M, Gadina M, O'Shea JJ, Meylan F, Schwartz DM TITLE JAK-STAT signaling in human disease: From genetic syndromes to clinical inhibition. JOURNAL J Allergy Clin Immunol 148:911-925 (2021) DOI:10.1016/j.jaci.2021.08.004 /// ENTRY 6773v1 Variant NAME STAT2 mutation GENE STAT2 signal transducer and activator of transcription 2 [KO:K11221] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 600556 NETWORK nt06518 JAK-STAT signaling nt06527 Necroptosis DISEASE H00840 Pseudo-TORCH syndrome H02525 Disorders of innate immunity REFERENCE PMID:34625141 AUTHORS Luo Y, Alexander M, Gadina M, O'Shea JJ, Meylan F, Schwartz DM TITLE JAK-STAT signaling in human disease: From genetic syndromes to clinical inhibition. JOURNAL J Allergy Clin Immunol 148:911-925 (2021) DOI:10.1016/j.jaci.2021.08.004 REFERENCE PMID:31836668 AUTHORS Duncan CJA, Thompson BJ, Chen R, Rice GI, Gothe F, Young DF, Lovell SC, Shuttleworth VG, Brocklebank V, Corner B, Skelton AJ, Bondet V, Coxhead J, Duffy D, Fourrage C, Livingston JH, Pavaine J, Cheesman E, Bitetti S, Grainger A, Acres M, Innes BA, Mikulasova A, Sun R, Hussain R, Wright R, Wynn R, Zarhrate M, Zeef LAH, Wood K, Hughes SM, Harris CL, Engelhardt KR, Crow YJ, Randall RE, Kavanagh D, Hambleton S, Briggs TA TITLE Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in STAT2. JOURNAL Sci Immunol 4:eaav7501 (2019) DOI:10.1126/sciimmunol.aav7501 /// ENTRY 6774v1 Variant NAME STAT3 mutation GENE STAT3 signal transducer and activator of transcription 3 [KO:K04692] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 102582 NETWORK nt06518 JAK-STAT signaling DISEASE H01968 Hyper-IgE syndrome H02540 Infantile-onset multisystem autoimmune disease REFERENCE PMID:34625141 AUTHORS Luo Y, Alexander M, Gadina M, O'Shea JJ, Meylan F, Schwartz DM TITLE JAK-STAT signaling in human disease: From genetic syndromes to clinical inhibition. JOURNAL J Allergy Clin Immunol 148:911-925 (2021) DOI:10.1016/j.jaci.2021.08.004 /// ENTRY 6777v1 Variant NAME STAT5B mutation GENE STAT5B signal transducer and activator of transcription 5B [KO:K11224] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 604260 NETWORK nt06518 JAK-STAT signaling DISEASE H00931 Growth hormone insensitivity with immunodeficiency REFERENCE PMID:34625141 AUTHORS Luo Y, Alexander M, Gadina M, O'Shea JJ, Meylan F, Schwartz DM TITLE JAK-STAT signaling in human disease: From genetic syndromes to clinical inhibition. JOURNAL J Allergy Clin Immunol 148:911-925 (2021) DOI:10.1016/j.jaci.2021.08.004 /// ENTRY 6786v1 Variant NAME STIM1 mutation GENE STIM1 stromal interaction molecule 1 [KO:K16059] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 605921 NETWORK nt06528 Calcium signaling DISEASE H00093 Combined immunodeficiency H02258 Tubular aggregate myopathy H02259 Stormorken syndrome REFERENCE PMID:33250786 AUTHORS Silva-Rojas R, Laporte J, Bohm J TITLE STIM1/ORAI1 Loss-of-Function and Gain-of-Function Mutations Inversely Impact on SOCE and Calcium Homeostasis and Cause Multi-Systemic Mirror Diseases. JOURNAL Front Physiol 11:604941 (2020) DOI:10.3389/fphys.2020.604941 REFERENCE PMID:34908252 AUTHORS Gang Q, Bettencourt C, Brady S, Holton JL, Healy EG, McConville J, Morrison PJ, Ripolone M, Violano R, Sciacco M, Moggio M, Mora M, Mantegazza R, Zanotti S, Wang Z, Yuan Y, Liu WW, Beeson D, Hanna M, Houlden H TITLE Genetic defects are common in myopathies with tubular aggregates. JOURNAL Ann Clin Transl Neurol 9:4-15 (2022) DOI:10.1002/acn3.51477 /// ENTRY 6790v1 Variant NAME AURKA mutation GENE AURKA aurora kinase A [KO:K11481] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 603072 NETWORK nt06515 Regulation of kinetochore-microtubule interactions DISEASE H00020 Colorectal cancer REFERENCE PMID:12881723 AUTHORS Ewart-Toland A, Briassouli P, de Koning JP, Mao JH, Yuan J, Chan F, MacCarthy-Morrogh L, Ponder BA, Nagase H, Burn J, Ball S, Almeida M, Linardopoulos S, Balmain A TITLE Identification of Stk6/STK15 as a candidate low-penetrance tumor-susceptibility gene in mouse and human. JOURNAL Nat Genet 34:403-12 (2003) DOI:10.1038/ng1220 REFERENCE PMID:27406026 AUTHORS Yan M, Wang C, He B, Yang M, Tong M, Long Z, Liu B, Peng F, Xu L, Zhang Y, Liang D, Lei H, Subrata S, Kelley KW, Lam EW, Jin B, Liu Q TITLE Aurora-A Kinase: A Potent Oncogene and Target for Cancer Therapy. JOURNAL Med Res Rev 36:1036-1079 (2016) DOI:10.1002/med.21399 REFERENCE PMID:33981003 AUTHORS Naso FD, Boi D, Ascanelli C, Pamfil G, Lindon C, Paiardini A, Guarguaglini G TITLE Nuclear localisation of Aurora-A: its regulation and significance for Aurora-A functions in cancer. JOURNAL Oncogene 40:3917-3928 (2021) DOI:10.1038/s41388-021-01766-w /// ENTRY 6794v1 Variant NAME STK11 mutation GENE STK11 serine/threonine kinase 11 [KO:K07298] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 602216 NETWORK nt06522 mTOR signaling DISEASE H00666 Peutz-Jeghers syndrome REFERENCE PMID:21826537 AUTHORS Kuwada SK, Burt R TITLE A rationale for mTOR inhibitors as chemoprevention agents in Peutz-Jeghers syndrome. JOURNAL Fam Cancer 10:469-72 (2011) DOI:10.1007/s10689-011-9471-9 /// ENTRY 6850v1 Variant NAME SYK mutation GENE SYK spleen associated tyrosine kinase [KO:K05855] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 600085 NETWORK nt06528 Calcium signaling nt06530 PI3K signaling DISEASE H02526 Disorders of adaptive immunity REFERENCE PMID:33782605 AUTHORS Wang L, Aschenbrenner D, Zeng Z, Cao X, Mayr D, Mehta M, Capitani M, Warner N, Pan J, Wang L, Li Q, Zuo T, Cohen-Kedar S, Lu J, Ardy RC, Mulder DJ, Dissanayake D, Peng K, Huang Z, Li X, Wang Y, Wang X, Li S, Bullers S, Gammage AN, Warnatz K, Schiefer AI, Krivan G, Goda V, Kahr WHA, Lemaire M, Lu CY, Siddiqui I, Surette MG, Kotlarz D, Engelhardt KR, Griffin HR, Rottapel R, Decaluwe H, Laxer RM, Proietti M, Hambleton S, Elcombe S, Guo CH, Grimbacher B, Dotan I, Ng SC, Freeman SA, Snapper SB, Klein C, Boztug K, Huang Y, Li D, Uhlig HH, Muise AM TITLE Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice. JOURNAL Nat Genet 53:500-510 (2021) DOI:10.1038/s41588-021-00803-4 /// ENTRY 6866v1 Variant NAME TAC3 mutation GENE TAC3 tachykinin precursor 3 [KO:K05240] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 162330 NETWORK nt06323 KISS1-GnRH-LH/FSH-E2 signaling nt06361 Hypogonadotropic hypogonadism DISEASE H00255 Hypogonadotropic hypogonadism REFERENCE PMID:20332248 AUTHORS Gianetti E, Tusset C, Noel SD, Au MG, Dwyer AA, Hughes VA, Abreu AP, Carroll J, Trarbach E, Silveira LF, Costa EM, de Mendonca BB, de Castro M, Lofrano A, Hall JE, Bolu E, Ozata M, Quinton R, Amory JK, Stewart SE, Arlt W, Cole TR, Crowley WF, Kaiser UB, Latronico AC, Seminara SB TITLE TAC3/TACR3 mutations reveal preferential activation of gonadotropin-releasing hormone release by neurokinin B in neonatal life followed by reversal in adulthood. JOURNAL J Clin Endocrinol Metab 95:2857-67 (2010) DOI:10.1210/jc.2009-2320 REFERENCE PMID:19079066 AUTHORS Topaloglu AK, Reimann F, Guclu M, Yalin AS, Kotan LD, Porter KM, Serin A, Mungan NO, Cook JR, Ozbek MN, Imamoglu S, Akalin NS, Yuksel B, O'Rahilly S, Semple RK TITLE TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction. JOURNAL Nat Genet 41:354-8 (2009) DOI:10.1038/ng.306 /// ENTRY 6868v1 Variant NAME ADAM17 mutation GENE ADAM17 ADAM metallopeptidase domain 17 [KO:K06059] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 603639 NETWORK nt06511 NOTCH signaling DISEASE H02467 Neonatal inflammatory skin and bowel disease REFERENCE PMID:22010916 AUTHORS Blaydon DC, Biancheri P, Di WL, Plagnol V, Cabral RM, Brooke MA, van Heel DA, Ruschendorf F, Toynbee M, Walne A, O'Toole EA, Martin JE, Lindley K, Vulliamy T, Abrams DJ, MacDonald TT, Harper JI, Kelsell DP TITLE Inflammatory skin and bowel disease linked to ADAM17 deletion. JOURNAL N Engl J Med 365:1502-8 (2011) DOI:10.1056/NEJMoa1100721 /// ENTRY 6870v1 Variant NAME TACR3 mutation GENE TACR3 tachykinin receptor 3 [KO:K04224] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 162332 NETWORK nt06323 KISS1-GnRH-LH/FSH-E2 signaling nt06361 Hypogonadotropic hypogonadism DISEASE H00255 Hypogonadotropic hypogonadism REFERENCE PMID:20332248 AUTHORS Gianetti E, Tusset C, Noel SD, Au MG, Dwyer AA, Hughes VA, Abreu AP, Carroll J, Trarbach E, Silveira LF, Costa EM, de Mendonca BB, de Castro M, Lofrano A, Hall JE, Bolu E, Ozata M, Quinton R, Amory JK, Stewart SE, Arlt W, Cole TR, Crowley WF, Kaiser UB, Latronico AC, Seminara SB TITLE TAC3/TACR3 mutations reveal preferential activation of gonadotropin-releasing hormone release by neurokinin B in neonatal life followed by reversal in adulthood. JOURNAL J Clin Endocrinol Metab 95:2857-67 (2010) DOI:10.1210/jc.2009-2320 REFERENCE PMID:19079066 AUTHORS Topaloglu AK, Reimann F, Guclu M, Yalin AS, Kotan LD, Porter KM, Serin A, Mungan NO, Cook JR, Ozbek MN, Imamoglu S, Akalin NS, Yuksel B, O'Rahilly S, Semple RK TITLE TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction. JOURNAL Nat Genet 41:354-8 (2009) DOI:10.1038/ng.306 REFERENCE PMID:24376026 AUTHORS Noel SD, Abreu AP, Xu S, Muyide T, Gianetti E, Tusset C, Carroll J, Latronico AC, Seminara SB, Carroll RS, Kaiser UB TITLE TACR3 mutations disrupt NK3R function through distinct mechanisms in GnRH-deficient patients. JOURNAL FASEB J 28:1924-37 (2014) DOI:10.1096/fj.13-240630 REFERENCE PMID:22031817 AUTHORS Francou B, Bouligand J, Voican A, Amazit L, Trabado S, Fagart J, Meduri G, Brailly-Tabard S, Chanson P, Lecomte P, Guiochon-Mantel A, Young J TITLE Normosmic congenital hypogonadotropic hypogonadism due to TAC3/TACR3 mutations: characterization of neuroendocrine phenotypes and novel mutations. JOURNAL PLoS One 6:e25614 (2011) DOI:10.1371/journal.pone.0025614 /// ENTRY 6898v1 Variant NAME TAT deficiency GENE TAT tyrosine aminotransferase [KO:K00815] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 613018 NETWORK nt06016 Phenylalanine and tyrosine metabolism DISEASE H00165 Tyrosinemia REFERENCE PMID:1357662 AUTHORS Natt E, Kida K, Odievre M, Di Rocco M, Scherer G TITLE Point mutations in the tyrosine aminotransferase gene in tyrosinemia type II. JOURNAL Proc Natl Acad Sci U S A 89:9297-301 (1992) DOI:10.1073/pnas.89.19.9297 /// ENTRY 6911v1 Variant NAME TBX6 mutation GENE TBX6 T-box transcription factor 6 [KO:K10180] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 602427 NETWORK nt06511 NOTCH signaling DISEASE H00517 Spondylocostal dysostosis REFERENCE PMID:25483003 AUTHORS Wahi K, Bochter MS, Cole SE TITLE The many roles of Notch signaling during vertebrate somitogenesis. JOURNAL Semin Cell Dev Biol 49:68-75 (2016) DOI:10.1016/j.semcdb.2014.11.010 /// ENTRY 6929v1 Variant NAME E2A-PBX1 fusion GENE TCF3 transcription factor 3 [KO:K09063] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION translocation t(1;19)(q23;p13) COSF: 1490 2124 2130 NETWORK nt06240 Transcription DISEASE H00001 B-cell acute lymphoblastic leukemia REFERENCE PMID:27088431 AUTHORS Sera Y, Yamasaki N, Oda H, Nagamachi A, Wolff L, Inukai T, Inaba T, Honda H TITLE Identification of cooperative genes for E2A-PBX1 to develop acute lymphoblastic leukemia. JOURNAL Cancer Sci 107:890-8 (2016) DOI:10.1111/cas.12945 /// ENTRY 695v1 Variant NAME BTK mutation GENE BTK Bruton tyrosine kinase [KO:K07370] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 300300 NETWORK nt06528 Calcium signaling DISEASE H00085 Agammaglobulinemias H00254 Growth hormone deficiency REFERENCE PMID:34241796 AUTHORS Cardenas-Morales M, Hernandez-Trujillo VP TITLE Agammaglobulinemia: from X-linked to Autosomal Forms of Disease. JOURNAL Clin Rev Allergy Immunol 63:22-35 (2022) DOI:10.1007/s12016-021-08870-5 REFERENCE PMID:8013627 AUTHORS Duriez B, Duquesnoy P, Dastot F, Bougneres P, Amselem S, Goossens M TITLE An exon-skipping mutation in the btk gene of a patient with X-linked agammaglobulinemia and isolated growth hormone deficiency. JOURNAL FEBS Lett 346:165-70 (1994) DOI:10.1016/0014-5793(94)00457-9 /// ENTRY 6999v1 Variant NAME TDO2 deficiency GENE TDO2 tryptophan 2,3-dioxygenase [KO:K00453] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 191070 REFERENCE PMID:28285122 AUTHORS Ferreira P, Shin I, Sosova I, Dornevil K, Jain S, Dewey D, Liu F, Liu A TITLE Hypertryptophanemia due to tryptophan 2,3-dioxygenase deficiency. JOURNAL Mol Genet Metab 120:317-324 (2017) DOI:10.1016/j.ymgme.2017.02.009 /// ENTRY 699v1 Variant NAME BUB1 mutation GENE BUB1 BUB1 mitotic checkpoint serine/threonine kinase [KO:K02178] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION BUB1* OmimVar: 602452 NETWORK nt06515 Regulation of kinetochore-microtubule interactions DISEASE H00020 Colorectal cancer H00269 Primary microcephaly REFERENCE PMID:9521327 AUTHORS Cahill DP, Lengauer C, Yu J, Riggins GJ, Willson JK, Markowitz SD, Kinzler KW, Vogelstein B TITLE Mutations of mitotic checkpoint genes in human cancers. JOURNAL Nature 392:300-3 (1998) DOI:10.1038/32688 REFERENCE PMID:23747338 AUTHORS de Voer RM, Geurts van Kessel A, Weren RD, Ligtenberg MJ, Smeets D, Fu L, Vreede L, Kamping EJ, Verwiel ET, Hahn MM, Ariaans M, Spruijt L, van Essen T, Houge G, Schackert HK, Sheng JQ, Venselaar H, van Ravenswaaij-Arts CM, van Krieken JH, Hoogerbrugge N, Kuiper RP TITLE Germline mutations in the spindle assembly checkpoint genes BUB1 and BUB3 are risk factors for colorectal cancer. JOURNAL Gastroenterology 145:544-7 (2013) DOI:10.1053/j.gastro.2013.06.001 REFERENCE PMID:35044816 AUTHORS Carvalhal S, Bader I, Rooimans MA, Oostra AB, Balk JA, Feichtinger RG, Beichler C, Speicher MR, van Hagen JM, Waisfisz Q, van Haelst M, Bruijn M, Tavares A, Mayr JA, Wolthuis RMF, Oliveira RA, de Lange J TITLE Biallelic BUB1 mutations cause microcephaly, developmental delay, and variable effects on cohesion and chromosome segregation. JOURNAL Sci Adv 8:eabk0114 (2022) DOI:10.1126/sciadv.abk0114 /// ENTRY 7012v1 Variant NAME TERC mutation GENE TERC telomerase RNA component [KO:K22183] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 602322 NETWORK nt06510 Telomere length regulation DISEASE H00507 Dyskeratosis congenita H01132 Aplastic anemia H02569 Pulmonary fibrosis and/or bone marrow failure, telomere-related REFERENCE PMID:11574891 AUTHORS Vulliamy T, Marrone A, Goldman F, Dearlove A, Bessler M, Mason PJ, Dokal I TITLE The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. JOURNAL Nature 413:432-5 (2001) DOI:10.1038/35096585 REFERENCE PMID:12090986 AUTHORS Vulliamy T, Marrone A, Dokal I, Mason PJ TITLE Association between aplastic anaemia and mutations in telomerase RNA. JOURNAL Lancet 359:2168-70 (2002) DOI:10.1016/S0140-6736(02)09087-6 /// ENTRY 7015v1 Variant NAME TERT overexpression GENE TERT telomerase reverse transcriptase [KO:K11126] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION promoter mutation C228T VARIATION promoter mutation C250T VARIATION promoter mutation C228A VARIATION promoter mutation C229A NETWORK nt06232 Telomerase activity nt06261 Gastric cancer nt06263 Hepatocellular carcinoma DISEASE H00018 Gastric cancer H00048 Hepatocellular carcinoma REFERENCE PMID:23530248 AUTHORS Killela PJ, Reitman ZJ, Jiao Y, Bettegowda C, Agrawal N, Diaz LA Jr, Friedman AH, Friedman H, Gallia GL, Giovanella BC, Grollman AP, He TC, He Y, Hruban RH, Jallo GI, Mandahl N, Meeker AK, Mertens F, Netto GJ, Rasheed BA, Riggins GJ, Rosenquist TA, Schiffman M, Shih IeM, Theodorescu D, Torbenson MS, Velculescu VE, Wang TL, Wentzensen N, Wood LD, Zhang M, McLendon RE, Bigner DD, Kinzler KW, Vogelstein B, Papadopoulos N, Yan H TITLE TERT promoter mutations occur frequently in gliomas and a subset of tumors derived from cells with low rates of self-renewal. JOURNAL Proc Natl Acad Sci U S A 110:6021-6 (2013) DOI:10.1073/pnas.1303607110 REFERENCE PMID:25574106 AUTHORS Cevik D, Yildiz G, Ozturk M TITLE Common telomerase reverse transcriptase promoter mutations in hepatocellular carcinomas from different geographical locations. JOURNAL World J Gastroenterol 21:311-7 (2015) DOI:10.3748/wjg.v21.i1.311 REFERENCE PMID:28529542 AUTHORS Pezzuto F, Buonaguro L, Buonaguro FM, Tornesello ML TITLE Frequency and geographic distribution of TERT promoter mutations in primary hepatocellular carcinoma. JOURNAL Infect Agent Cancer 12:27 (2017) DOI:10.1186/s13027-017-0138-5 REFERENCE PMID:25843513 AUTHORS Huang DS, Wang Z, He XJ, Diplas BH, Yang R, Killela PJ, Meng Q, Ye ZY, Wang W, Jiang XT, Xu L, He XL, Zhao ZS, Xu WJ, Wang HJ, Ma YY, Xia YJ, Li L, Zhang RX, Jin T, Zhao ZK, Xu J, Yu S, Wu F, Liang J, Wang S, Jiao Y, Yan H, Tao HQ TITLE Recurrent TERT promoter mutations identified in a large-scale study of multiple tumour types are associated with increased TERT expression and telomerase activation. JOURNAL Eur J Cancer 51:969-76 (2015) DOI:10.1016/j.ejca.2015.03.010 /// ENTRY 7015v2 Variant NAME TERT mutation GENE TERT telomerase reverse transcriptase [KO:K11126] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 187270 NETWORK nt06510 Telomere length regulation DISEASE H00038 Melanoma H00507 Dyskeratosis congenita H01132 Aplastic anemia H02569 Pulmonary fibrosis and/or bone marrow failure, telomere-related REFERENCE PMID:17785587 AUTHORS Marrone A, Walne A, Tamary H, Masunari Y, Kirwan M, Beswick R, Vulliamy T, Dokal I TITLE Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome. JOURNAL Blood 110:4198-205 (2007) DOI:10.1182/blood-2006-12-062851 REFERENCE PMID:15814878 AUTHORS Yamaguchi H, Calado RT, Ly H, Kajigaya S, Baerlocher GM, Chanock SJ, Lansdorp PM, Young NS TITLE Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia. JOURNAL N Engl J Med 352:1413-24 (2005) DOI:10.1056/NEJMoa042980 REFERENCE PMID:12629597 AUTHORS Zhang A, Zheng C, Hou M, Lindvall C, Li KJ, Erlandsson F, Bjorkholm M, Gruber A, Blennow E, Xu D TITLE Deletion of the telomerase reverse transcriptase gene and haploinsufficiency of telomere maintenance in Cri du chat syndrome. JOURNAL Am J Hum Genet 72:940-8 (2003) DOI:10.1086/374565 /// ENTRY 7018v1 Variant NAME TF mutation GENE TF transferrin [KO:K14736] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 190000 NETWORK nt06525 Ferroptosis DISEASE H01145 Atransferrinemia REFERENCE PMID:18097132 AUTHORS Aslan D, Crain K, Beutler E TITLE A new case of human atransferrinemia with a previously undescribed mutation in the transferrin gene. JOURNAL Acta Haematol 118:244-7 (2007) DOI:10.1159/000112726 REFERENCE PMID:26166707 AUTHORS Gao M, Monian P, Quadri N, Ramasamy R, Jiang X TITLE Glutaminolysis and Transferrin Regulate Ferroptosis. JOURNAL Mol Cell 59:298-308 (2015) DOI:10.1016/j.molcel.2015.06.011 /// ENTRY 701v1 Variant NAME BUB1B mutation GENE BUB1B BUB1 mitotic checkpoint serine/threonine kinase B [KO:K06637] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 602860 NETWORK nt06515 Regulation of kinetochore-microtubule interactions DISEASE H00020 Colorectal cancer H01288 Mosaic variegated aneuploidy syndrome REFERENCE PMID:15475955 AUTHORS Hanks S, Coleman K, Reid S, Plaja A, Firth H, Fitzpatrick D, Kidd A, Mehes K, Nash R, Robin N, Shannon N, Tolmie J, Swansbury J, Irrthum A, Douglas J, Rahman N TITLE Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B. JOURNAL Nat Genet 36:1159-61 (2004) DOI:10.1038/ng1449 REFERENCE PMID:9521327 AUTHORS Cahill DP, Lengauer C, Yu J, Riggins GJ, Willson JK, Markowitz SD, Kinzler KW, Vogelstein B TITLE Mutations of mitotic checkpoint genes in human cancers. JOURNAL Nature 392:300-3 (1998) DOI:10.1038/32688 /// ENTRY 7030v1 Variant NAME PRCC-TFE3 fusion GENE TFE3 transcription factor binding to IGHM enhancer 3 [KO:K09105] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION translocation t(X;1)(p11;q21) COSF: 806 813 808 NETWORK nt06240 Transcription nt06264 Renal cell carcinoma DISEASE H00021 Renal cell carcinoma REFERENCE PMID:19233641 AUTHORS Prensner JR, Chinnaiyan AM TITLE Oncogenic gene fusions in epithelial carcinomas. JOURNAL Curr Opin Genet Dev 19:82-91 (2009) DOI:10.1016/j.gde.2008.11.008 REFERENCE PMID:25048860 AUTHORS Kauffman EC, Ricketts CJ, Rais-Bahrami S, Yang Y, Merino MJ, Bottaro DP, Srinivasan R, Linehan WM TITLE Molecular genetics and cellular features of TFE3 and TFEB fusion kidney cancers. JOURNAL Nat Rev Urol 11:465-75 (2014) DOI:10.1038/nrurol.2014.162 REFERENCE PMID:8872474 AUTHORS Sidhar SK, Clark J, Gill S, Hamoudi R, Crew AJ, Gwilliam R, Ross M, Linehan WM, Birdsall S, Shipley J, Cooper CS TITLE The t(X;1)(p11.2;q21.2) translocation in papillary renal cell carcinoma fuses a novel gene PRCC to the TFE3 transcription factor gene. JOURNAL Hum Mol Genet 5:1333-8 (1996) DOI:10.1093/hmg/5.9.1333 /// ENTRY 7030v2 Variant NAME ASPL-TFE3 fusion GENE TFE3 transcription factor binding to IGHM enhancer 3 [KO:K09105] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION translocation t(X;17)(p11;q25) COSF: 394 396 814 NETWORK nt06240 Transcription DISEASE H00051 Alveolar soft part sarcoma REFERENCE PMID:12951587 AUTHORS Helman LJ, Meltzer P. TITLE Mechanisms of sarcoma development. JOURNAL Nat Rev Cancer 3:685-94 (2003) DOI:10.1038/nrc1168 REFERENCE PMID:19734027 AUTHORS Thway K TITLE Pathology of soft tissue sarcomas. JOURNAL Clin Oncol (R Coll Radiol) 21:695-705 (2009) DOI:10.1016/j.clon.2009.07.016 /// ENTRY 7036v1 Variant NAME TFR2 mutation GENE TFR2 transferrin receptor 2 [KO:K23910] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 604720 NETWORK nt06507 TGFB signaling DISEASE H00211 Hemochromatosis REFERENCE PMID:30420953 AUTHORS Pantopoulos K TITLE Inherited Disorders of Iron Overload. JOURNAL Front Nutr 5:103 (2018) DOI:10.3389/fnut.2018.00103 /// ENTRY 7038v1 Variant NAME TG mutation GENE TG thyroglobulin [KO:K10809] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 188450 NETWORK nt06322 TRH-TSH-TH signaling DISEASE H00251 Thyroid dyshormonogenesis REFERENCE PMID:14764776 AUTHORS Gutnisky VJ, Moya CM, Rivolta CM, Domene S, Varela V, Toniolo JV, Medeiros-Neto G, Targovnik HM TITLE Two distinct compound heterozygous constellations (R277X/IVS34-1G>C and R277X/R1511X) in the thyroglobulin (TG) gene in affected individuals of a Brazilian kindred with congenital goiter and defective TG synthesis. JOURNAL J Clin Endocrinol Metab 89:646-57 (2004) DOI:10.1210/jc.2003-030587 REFERENCE PMID:30324792 AUTHORS Peters C, van Trotsenburg ASP, Schoenmakers N TITLE DIAGNOSIS OF ENDOCRINE DISEASE: Congenital hypothyroidism: update and perspectives JOURNAL Eur J Endocrinol 179:R297-R317 (2018) DOI:10.1530/EJE-18-0383 REFERENCE PMID:15611820 AUTHORS Vono-Toniolo J, Kopp P TITLE Thyroglobulin gene mutations and other genetic defects associated with congenital hypothyroidism. JOURNAL Arq Bras Endocrinol Metabol 48:70-82 (2004) DOI:10.1590/S0004-27302004000100009 /// ENTRY 7039v1 Variant NAME TGFA overexpression GENE TGFA transforming growth factor alpha [KO:K08774] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION overexpression NETWORK nt06210 ERK signaling nt06214 PI3K signaling nt06220 Calcium signaling nt06260 Colorectal cancer nt06263 Hepatocellular carcinoma nt06526 MAPK signaling nt06528 Calcium signaling nt06530 PI3K signaling DISEASE H00020 Colorectal cancer H00048 Hepatocellular carcinoma REFERENCE PMID:16799620 AUTHORS Breuhahn K, Longerich T, Schirmacher P TITLE Dysregulation of growth factor signaling in human hepatocellular carcinoma. JOURNAL Oncogene 25:3787-800 (2006) DOI:10.1038/sj.onc.1209556 REFERENCE PMID:9815784 AUTHORS Kiss A, Wang NJ, Xie JP, Thorgeirsson SS TITLE Analysis of transforming growth factor (TGF)-alpha/epidermal growth factor receptor, hepatocyte growth Factor/c-met,TGF-beta receptor type II, and p53 expression in human hepatocellular carcinomas. JOURNAL Clin Cancer Res 3:1059-66 (1997) REFERENCE PMID:11252954 AUTHORS Yarden Y, Sliwkowski MX. TITLE Untangling the ErbB signalling network. JOURNAL Nat Rev Mol Cell Biol 2:127-37 (2001) DOI:10.1038/35052073 /// ENTRY 7040v1 Variant NAME TGFB1 mutation GENE TGFB1 transforming growth factor beta 1 [KO:K13375] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 190180 NETWORK nt06507 TGFB signaling DISEASE H00434 Camurati-Engelmann disease REFERENCE PMID:17008304 AUTHORS Harradine KA, Akhurst RJ TITLE Mutations of TGFbeta signaling molecules in human disease. JOURNAL Ann Med 38:403-14 (2006) DOI:10.1080/07853890600919911 /// ENTRY 7042v1 Variant NAME TGFB2 mutation GENE TGFB2 transforming growth factor beta 2 [KO:K13376] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 190220 NETWORK nt06507 TGFB signaling DISEASE H00800 Loeys-Dietz syndrome REFERENCE PMID:30037098 AUTHORS Takeda N, Hara H, Fujiwara T, Kanaya T, Maemura S, Komuro I TITLE TGF-beta Signaling-Related Genes and Thoracic Aortic Aneurysms and Dissections. JOURNAL Int J Mol Sci 19:E2125 (2018) DOI:10.3390/ijms19072125 /// ENTRY 7043v1 Variant NAME TGFB3 mutation GENE TGFB3 transforming growth factor beta 3 [KO:K13377] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 190230 NETWORK nt06507 TGFB signaling DISEASE H00800 Loeys-Dietz syndrome REFERENCE PMID:30037098 AUTHORS Takeda N, Hara H, Fujiwara T, Kanaya T, Maemura S, Komuro I TITLE TGF-beta Signaling-Related Genes and Thoracic Aortic Aneurysms and Dissections. JOURNAL Int J Mol Sci 19:E2125 (2018) DOI:10.3390/ijms19072125 /// ENTRY 7046v1 Variant NAME TGFBR1 reduced expression GENE TGFBR1 transforming growth factor beta receptor 1 [KO:K04674] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION reduced expression NETWORK nt06218 TGFB signaling nt06261 Gastric cancer DISEASE H00018 Gastric cancer REFERENCE PMID:16154715 AUTHORS Stock M, Otto F TITLE Gene deregulation in gastric cancer. JOURNAL Gene 360:1-19 (2005) DOI:10.1016/j.gene.2005.06.026 REFERENCE PMID:10602482 AUTHORS Kang SH, Bang YJ, Im YH, Yang HK, Lee DA, Lee HY, Lee HS, Kim NK, Kim SJ TITLE Transcriptional repression of the transforming growth factor-beta type I receptor gene by DNA methylation results in the development of TGF-beta resistance in human gastric cancer. JOURNAL Oncogene 18:7280-6 (1999) DOI:10.1038/sj.onc.1203146 /// ENTRY 7046v2 Variant NAME TGFBR1 mutation GENE TGFBR1 transforming growth factor beta receptor 1 [KO:K04674] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 190181 NETWORK nt06507 TGFB signaling DISEASE H00800 Loeys-Dietz syndrome H00801 Familial thoracic aortic aneurysm and dissection REFERENCE PMID:17008304 AUTHORS Harradine KA, Akhurst RJ TITLE Mutations of TGFbeta signaling molecules in human disease. JOURNAL Ann Med 38:403-14 (2006) DOI:10.1080/07853890600919911 /// ENTRY 7048v1 Variant NAME TGFBR2 mutation GENE TGFBR2 transforming growth factor beta receptor 2 [KO:K04388] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutation R528H ClinVar: 12511 dbSNP: rs104893815 COSM: 33076 VARIATION mutation D522N ClinVar: 213936 dbSNP: rs863223854 VARIATION mutation Y470D ClinVar: 217016 dbSNP: rs863224935 COSM: 3392339 NETWORK nt06218 TGFB signaling nt06260 Colorectal cancer nt06507 TGFB signaling DISEASE H00020 Colorectal cancer REFERENCE PMID:9927040 AUTHORS Grady WM, Myeroff LL, Swinler SE, Rajput A, Thiagalingam S, Lutterbaugh JD, Neumann A, Brattain MG, Chang J, Kim SJ, Kinzler KW, Vogelstein B, Willson JK, Markowitz S TITLE Mutational inactivation of transforming growth factor beta receptor type II in microsatellite stable colon cancers. JOURNAL Cancer Res 59:320-4 (1999) REFERENCE PMID:10656986 AUTHORS Markowitz S TITLE TGF-beta receptors and DNA repair genes, coupled targets in a pathway of human colon carcinogenesis. JOURNAL Biochim Biophys Acta 1470:M13-20 (2000) DOI:10.1016/S0304-419X(99)00031-1 /// ENTRY 7048v2 Variant NAME TGFBR2 reduced expression GENE TGFBR2 transforming growth factor beta receptor 2 [KO:K04388] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION reduced expression NETWORK nt06218 TGFB signaling nt06263 Hepatocellular carcinoma DISEASE H00048 Hepatocellular carcinoma REFERENCE PMID:9815784 AUTHORS Kiss A, Wang NJ, Xie JP, Thorgeirsson SS TITLE Analysis of transforming growth factor (TGF)-alpha/epidermal growth factor receptor, hepatocyte growth Factor/c-met,TGF-beta receptor type II, and p53 expression in human hepatocellular carcinomas. JOURNAL Clin Cancer Res 3:1059-66 (1997) REFERENCE PMID:20531292 AUTHORS Mamiya T, Yamazaki K, Masugi Y, Mori T, Effendi K, Du W, Hibi T, Tanabe M, Ueda M, Takayama T, Sakamoto M TITLE Reduced transforming growth factor-beta receptor II expression in hepatocellular carcinoma correlates with intrahepatic metastasis. JOURNAL Lab Invest 90:1339-45 (2010) DOI:10.1038/labinvest.2010.105 /// ENTRY 7048v3 Variant NAME TGFBR2 mutation GENE TGFBR2 transforming growth factor beta receptor 2 [KO:K04388] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 190182 NETWORK nt06507 TGFB signaling DISEASE H00800 Loeys-Dietz syndrome H00801 Familial thoracic aortic aneurysm and dissection REFERENCE PMID:17008304 AUTHORS Harradine KA, Akhurst RJ TITLE Mutations of TGFbeta signaling molecules in human disease. JOURNAL Ann Med 38:403-14 (2006) DOI:10.1080/07853890600919911 /// ENTRY 7054v1 Variant NAME TH deficiency GENE TH tyrosine hydroxylase [KO:K00501] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 191290 NETWORK nt06028 Dopamine and serotonin metabolism DISEASE H02557 Dopa-responsive dystonia REFERENCE PMID:8528210 AUTHORS Knappskog PM, Flatmark T, Mallet J, Ludecke B, Bartholome K TITLE Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene. JOURNAL Hum Mol Genet 4:1209-12 (1995) DOI:10.1093/hmg/4.7.1209 /// ENTRY 7056v1 Variant NAME THBD mutation GENE THBD thrombomodulin [KO:K03907] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 188040 NETWORK nt06514 Coagulation cascade DISEASE H00223 Inherited thrombophilia REFERENCE PMID:32623564 AUTHORS Zhang Y, Zhang Z, Shu S, Niu W, Xie W, Wan J, Zhai Z, Wang C TITLE The genetics of venous thromboembolism: a systematic review of thrombophilia families. JOURNAL J Thromb Thrombolysis 51:359-369 (2021) DOI:10.1007/s11239-020-02203-7 REFERENCE PMID:32950988 AUTHORS Avila Bernabeu AI, Cavero Escribano T, Cao Vilarino M TITLE Atypical Hemolytic Uremic Syndrome: New Challenges in the Complement Blockage Era. JOURNAL Nephron 144:537-549 (2020) DOI:10.1159/000508920 /// ENTRY 7066v1 Variant NAME THPO mutation GENE THPO thrombopoietin [KO:K06854] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 600044 NETWORK nt06518 JAK-STAT signaling DISEASE H01612 Essential thrombocythemia REFERENCE PMID:10583217 AUTHORS Ghilardi N, Wiestner A, Kikuchi M, Ohsaka A, Skoda RC TITLE Hereditary thrombocythaemia in a Japanese family is caused by a novel point mutation in the thrombopoietin gene. JOURNAL Br J Haematol 107:310-6 (1999) DOI:10.1046/j.1365-2141.1999.01710.x /// ENTRY 7067v1 Variant NAME THRA mutation GENE THRA thyroid hormone receptor alpha [KO:K05547] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 190120 NETWORK nt06322 TRH-TSH-TH signaling DISEASE H00250 Congenital nongoitrous hypothyroidism (CHNG) REFERENCE PMID:26585273 AUTHORS Vlaeminck-Guillem V, Espiard S, Flamant F, Wemeau JL TITLE TRalpha receptor mutations extend the spectrum of syndromes of reduced sensitivity to thyroid hormone. JOURNAL Presse Med 44:1103-12 (2015) DOI:10.1016/j.lpm.2015.07.022 REFERENCE PMID:26862888 AUTHORS Bassett JH, Williams GR TITLE Role of Thyroid Hormones in Skeletal Development and Bone Maintenance. JOURNAL Endocr Rev 37:135-87 (2016) DOI:10.1210/er.2015-1106 REFERENCE PMID:25905294 AUTHORS Dumitrescu AM, Refetoff S TITLE Impaired Sensitivity to Thyroid Hormone: Defects of Transport, Metabolism and Action JOURNAL Endotext (2000) REFERENCE PMID:28932413 AUTHORS Singh BK, Yen PM TITLE A clinician's guide to understanding resistance to thyroid hormone due to receptor mutations in the TRalpha and TRbeta isoforms. JOURNAL Clin Diabetes Endocrinol 3:8 (2017) DOI:10.1186/s40842-017-0046-z REFERENCE PMID:8527577 AUTHORS Cortes E, Pigrau C, Barbera J, Almirante B TITLE Cellulitis and spondylitis due to Streptococcus pneumoniae. JOURNAL Clin Infect Dis 21:696 (1995) DOI:10.1093/clinids/21.3.696 /// ENTRY 7068v1 Variant NAME THRB mutation GENE THRB thyroid hormone receptor beta [KO:K08362] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 190160 NETWORK nt06322 TRH-TSH-TH signaling DISEASE H00249 Thyroid hormone resistance syndrome REFERENCE PMID:1991834 AUTHORS Takeda K, Balzano S, Sakurai A, DeGroot LJ, Refetoff S TITLE Screening of nineteen unrelated families with generalized resistance to thyroid hormone for known point mutations in the thyroid hormone receptor beta gene and the detection of a new mutation. JOURNAL J Clin Invest 87:496-502 (1991) DOI:10.1172/JCI115023 REFERENCE PMID:8013151 AUTHORS Beck-Peccoz P, Chatterjee VK, Chin WW, DeGroot LJ, Jameson JL, Nakamura H, Refetoff S, Usala SJ, Weintraub BD TITLE Nomenclature of thyroid hormone receptor beta gene mutations in resistance to thyroid hormone: consensus statement from the First Workshop on Thyroid Hormone Resistance, 10-11 July 1993, Cambridge, UK. JOURNAL Clin Endocrinol (Oxf) 40:697-700 (1994) DOI:10.1111/j.1365-2265.1994.tb03024.x REFERENCE PMID:9927321 AUTHORS Gloss B, Sayen MR, Trost SU, Bluhm WF, Meyer M, Swanson EA, Usala SJ, Dillmann WH TITLE Altered cardiac phenotype in transgenic mice carrying the delta337 threonine thyroid hormone receptor beta mutant derived from the S family. JOURNAL Endocrinology 140:897-902 (1999) DOI:10.1210/endo.140.2.6527 REFERENCE PMID:7711514 AUTHORS Jameson JL TITLE Mechanisms by which thyroid hormone receptor mutations cause clinical syndromes of resistance to thyroid hormone. JOURNAL Thyroid 4:485-92 (1994) DOI:10.1089/thy.1994.4.485 REFERENCE PMID:25905294 AUTHORS Dumitrescu AM, Refetoff S TITLE Impaired Sensitivity to Thyroid Hormone: Defects of Transport, Metabolism and Action JOURNAL Endotext (2000) REFERENCE PMID:28932413 AUTHORS Singh BK, Yen PM TITLE A clinician's guide to understanding resistance to thyroid hormone due to receptor mutations in the TRalpha and TRbeta isoforms. JOURNAL Clin Diabetes Endocrinol 3:8 (2017) DOI:10.1186/s40842-017-0046-z /// ENTRY 7096v1 Variant NAME TLR1 mutation GENE TLR1 toll like receptor 1 [KO:K05398] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 601194 NETWORK nt06517 TLR signaling DISEASE H00344 Leprosy REFERENCE PMID:18461142 AUTHORS Misch EA, Macdonald M, Ranjit C, Sapkota BR, Wells RD, Siddiqui MR, Kaplan G, Hawn TR TITLE Human TLR1 deficiency is associated with impaired mycobacterial signaling and protection from leprosy reversal reaction. JOURNAL PLoS Negl Trop Dis 2:e231 (2008) DOI:10.1371/journal.pntd.0000231 REFERENCE PMID:26793196 AUTHORS Mazini PS, Alves HV, Reis PG, Lopes AP, Sell AM, Santos-Rosa M, Visentainer JE, Rodrigues-Santos P TITLE Gene Association with Leprosy: A Review of Published Data. JOURNAL Front Immunol 6:658 (2015) DOI:10.3389/fimmu.2015.00658 /// ENTRY 7097v1 Variant NAME TLR2 mutation GENE TLR2 toll like receptor 2 [KO:K10159] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 603028 NETWORK nt06517 TLR signaling DISEASE H00342 Tuberculosis H00344 Leprosy REFERENCE PMID:11476982 AUTHORS Kang TJ, Chae GT TITLE Detection of Toll-like receptor 2 (TLR2) mutation in the lepromatous leprosy patients. JOURNAL FEMS Immunol Med Microbiol 31:53-8 (2001) DOI:10.1111/j.1574-695X.2001.tb01586.x REFERENCE PMID:14979495 AUTHORS Ogus AC, Yoldas B, Ozdemir T, Uguz A, Olcen S, Keser I, Coskun M, Cilli A, Yegin O TITLE The Arg753GLn polymorphism of the human toll-like receptor 2 gene in tuberculosis disease. JOURNAL Eur Respir J 23:219-23 (2004) DOI:10.1183/09031936.03.00061703 /// ENTRY 7098v1 Variant NAME TLR3 mutation GENE TLR3 toll like receptor 3 [KO:K05401] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 603029 NETWORK nt06517 TLR signaling nt06527 Necroptosis DISEASE H02536 Infection-induced acute encephalopathy REFERENCE PMID:17872438 AUTHORS Zhang SY, Jouanguy E, Ugolini S, Smahi A, Elain G, Romero P, Segal D, Sancho-Shimizu V, Lorenzo L, Puel A, Picard C, Chapgier A, Plancoulaine S, Titeux M, Cognet C, von Bernuth H, Ku CL, Casrouge A, Zhang XX, Barreiro L, Leonard J, Hamilton C, Lebon P, Heron B, Vallee L, Quintana-Murci L, Hovnanian A, Rozenberg F, Vivier E, Geissmann F, Tardieu M, Abel L, Casanova JL TITLE TLR3 deficiency in patients with herpes simplex encephalitis. JOURNAL Science 317:1522-7 (2007) DOI:10.1126/science.1139522 REFERENCE PMID:28368532 AUTHORS Sironi M, Peri AM, Cagliani R, Forni D, Riva S, Biasin M, Clerici M, Gori A TITLE TLR3 Mutations in Adult Patients With Herpes Simplex Virus and Varicella-Zoster Virus Encephalitis. JOURNAL J Infect Dis 215:1430-1434 (2017) DOI:10.1093/infdis/jix166 /// ENTRY 7099v1 Variant NAME TLR4 mutation GENE TLR4 toll like receptor 4 [KO:K10160] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 603030 NETWORK nt06517 TLR signaling nt06527 Necroptosis DISEASE H00821 Age-related macular degeneration REFERENCE PMID:15829498 AUTHORS Zareparsi S, Buraczynska M, Branham KE, Shah S, Eng D, Li M, Pawar H, Yashar BM, Moroi SE, Lichter PR, Petty HR, Richards JE, Abecasis GR, Elner VM, Swaroop A TITLE Toll-like receptor 4 variant D299G is associated with susceptibility to age-related macular degeneration. JOURNAL Hum Mol Genet 14:1449-55 (2005) DOI:10.1093/hmg/ddi154 /// ENTRY 7100v1 Variant NAME TLR5 mutation GENE TLR5 toll like receptor 5 [KO:K10168] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 603031 NETWORK nt06517 TLR signaling DISEASE H00311 Legionellosis H00317 Melioidosis REFERENCE PMID:14623910 AUTHORS Hawn TR, Verbon A, Lettinga KD, Zhao LP, Li SS, Laws RJ, Skerrett SJ, Beutler B, Schroeder L, Nachman A, Ozinsky A, Smith KD, Aderem A TITLE A common dominant TLR5 stop codon polymorphism abolishes flagellin signaling and is associated with susceptibility to legionnaires' disease. JOURNAL J Exp Med 198:1563-72 (2003) DOI:10.1084/jem.20031220 REFERENCE PMID:23447684 AUTHORS West TE, Chantratita N, Chierakul W, Limmathurotsakul D, Wuthiekanun V, Myers ND, Emond MJ, Wurfel MM, Hawn TR, Peacock SJ, Skerrett SJ TITLE Impaired TLR5 functionality is associated with survival in melioidosis. JOURNAL J Immunol 190:3373-9 (2013) DOI:10.4049/jimmunol.1202974 /// ENTRY 710v1 Variant NAME SERPING1 mutation GENE SERPING1 serpin family G member 1 [KO:K04001] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 606860 NETWORK nt06513 Complement cascade nt06514 Coagulation cascade DISEASE H00106 Complement regulatory protein defects H01006 Hereditary angioedema REFERENCE PMID:7883978 AUTHORS Zahedi R, Bissler JJ, Davis AE 3rd, Andreadis C, Wisnieski JJ TITLE Unique C1 inhibitor dysfunction in a kindred without angioedema. II. Identification of an Ala443-->Val substitution and functional analysis of the recombinant mutant protein. JOURNAL J Clin Invest 95:1299-305 (1995) DOI:10.1172/JCI117780 REFERENCE PMID:30656274 AUTHORS Levi M, Cohn DM, Zeerleder S TITLE Hereditary angioedema: Linking complement regulation to the coagulation system. JOURNAL Res Pract Thromb Haemost 3:38-43 (2019) DOI:10.1002/rth2.12175 /// ENTRY 7128v1 Variant NAME TNFAIP3 mutation GENE TNFAIP3 TNF alpha induced protein 3 [KO:K11859] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 191163 NETWORK nt06516 TNF signaling DISEASE H02592 Familial Behcet-like autoinflammatory syndrome REFERENCE PMID:28469620 AUTHORS Aksentijevich I, Zhou Q TITLE NF-kappaB Pathway in Autoinflammatory Diseases: Dysregulation of Protein Modifications by Ubiquitin Defines a New Category of Autoinflammatory Diseases. JOURNAL Front Immunol 8:399 (2017) DOI:10.3389/fimmu.2017.00399 REFERENCE PMID:34635190 AUTHORS Masumoto J, Zhou W, Morikawa S, Hosokawa S, Taguchi H, Yamamoto T, Kurata M, Kaneko N TITLE Molecular biology of autoinflammatory diseases. JOURNAL Inflamm Regen 41:33 (2021) DOI:10.1186/s41232-021-00181-8 REFERENCE PMID:28722725 AUTHORS Manthiram K, Zhou Q, Aksentijevich I, Kastner DL TITLE The monogenic autoinflammatory diseases define new pathways in human innate immunity and inflammation. JOURNAL Nat Immunol 18:832-842 (2017) DOI:10.1038/ni.3777 /// ENTRY 712v1 Variant NAME C1QA mutation GENE C1QA complement C1q A chain [KO:K03986] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 120550 NETWORK nt06513 Complement cascade DISEASE H00102 Classic complement pathway component defects REFERENCE PMID:8840296 AUTHORS Topaloglu R, Bakkaloglu A, Slingsby JH, Mihatsch MJ, Pascual M, Norsworthy P, Morley BJ, Saatci U, Schifferli JA, Walport MJ TITLE Molecular basis of hereditary C1q deficiency associated with SLE and IgA nephropathy in a Turkish family. JOURNAL Kidney Int 50:635-42 (1996) DOI:10.1038/ki.1996.359 REFERENCE PMID:9225968 AUTHORS Petry F, Berkel AI, Loos M TITLE Multiple identification of a particular type of hereditary C1q deficiency in the Turkish population: review of the cases and additional genetic and functional analysis. JOURNAL Hum Genet 100:51-6 (1997) DOI:10.1007/s004390050464 /// ENTRY 7132v1 Variant NAME TNFRSF1A mutation GENE TNFRSF1A TNF receptor superfamily member 1A [KO:K03158] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 191190 NETWORK nt06516 TNF signaling nt06527 Necroptosis DISEASE H00912 Tumor necrosis factor receptor-associated periodic syndrome H01490 Multiple sclerosis REFERENCE PMID:21284532 AUTHORS Pettersson T, Kantonen J, Matikainen S, Repo H TITLE Setting up TRAPS. JOURNAL Ann Med 44:109-18 (2012) DOI:10.3109/07853890.2010.548399 REFERENCE PMID:32380704 AUTHORS Cudrici C, Deuitch N, Aksentijevich I TITLE Revisiting TNF Receptor-Associated Periodic Syndrome (TRAPS): Current Perspectives. JOURNAL Int J Mol Sci 21:E3263 (2020) DOI:10.3390/ijms21093263 REFERENCE PMID:22801493 AUTHORS Gregory AP, Dendrou CA, Attfield KE, Haghikia A, Xifara DK, Butter F, Poschmann G, Kaur G, Lambert L, Leach OA, Promel S, Punwani D, Felce JH, Davis SJ, Gold R, Nielsen FC, Siegel RM, Mann M, Bell JI, McVean G, Fugger L TITLE TNF receptor 1 genetic risk mirrors outcome of anti-TNF therapy in multiple sclerosis. JOURNAL Nature 488:508-511 (2012) DOI:10.1038/nature11307 /// ENTRY 713v1 Variant NAME C1QB mutation GENE C1QB complement C1q B chain [KO:K03987] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 120570 NETWORK nt06513 Complement cascade DISEASE H00102 Classic complement pathway component defects REFERENCE PMID:2894352 AUTHORS McAdam RA, Goundis D, Reid KB TITLE A homozygous point mutation results in a stop codon in the C1q B-chain of a C1q-deficient individual. JOURNAL Immunogenetics 27:259-64 (1988) DOI:10.1007/BF00376120 REFERENCE PMID:24160257 AUTHORS Higuchi Y, Shimizu J, Hatanaka M, Kitano E, Kitamura H, Takada H, Ishimura M, Hara T, Ohara O, Asagoe K, Kubo T TITLE The identification of a novel splicing mutation in C1qB in a Japanese family with C1q deficiency: a case report. JOURNAL Pediatr Rheumatol Online J 11:41 (2013) DOI:10.1186/1546-0096-11-41 /// ENTRY 714v1 Variant NAME C1QC mutation GENE C1QC complement C1q C chain [KO:K03988] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 120575 NETWORK nt06513 Complement cascade DISEASE H00102 Classic complement pathway component defects REFERENCE PMID:8630118 AUTHORS Slingsby JH, Norsworthy P, Pearce G, Vaishnaw AK, Issler H, Morley BJ, Walport MJ TITLE Homozygous hereditary C1q deficiency and systemic lupus erythematosus. A new family and the molecular basis of C1q deficiency in three families. JOURNAL Arthritis Rheum 39:663-70 (1996) DOI:10.1002/art.1780390419 /// ENTRY 7156v1 Variant NAME TOP3A mutation GENE TOP3A DNA topoisomerase III alpha [KO:K03165] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 601243 NETWORK nt06506 Double-strand break repair DISEASE H01395 Autosomal recessive progressive external ophthalmoplegia H02492 Microcephaly, growth restriction, and increased sister chromatid exchange REFERENCE PMID:30057030 AUTHORS Martin CA, Sarlos K, Logan CV, Thakur RS, Parry DA, Bizard AH, Leitch A, Cleal L, Ali NS, Al-Owain MA, Allen W, Altmuller J, Aza-Carmona M, Barakat BAY, Barraza-Garcia J, Begtrup A, Bogliolo M, Cho MT, Cruz-Rojo J, Dhahrabi HAM, Elcioglu NH, Gorman GS, Jobling R, Kesterton I, Kishita Y, Kohda M, Le Quesne Stabej P, Malallah AJ, Nurnberg P, Ohtake A, Okazaki Y, Pujol R, Ramirez MJ, Revah-Politi A, Shimura M, Stevens P, Taylor RW, Turner L, Williams H, Wilson C, Yigit G, Zahavich L, Alkuraya FS, Surralles J, Iglesias A, Murayama K, Wollnik B, Dattani M, Heath KE, Hickson ID, Jackson AP TITLE Mutations in TOP3A Cause a Bloom Syndrome-like Disorder. JOURNAL Am J Hum Genet 103:221-231 (2018) DOI:10.1016/j.ajhg.2018.07.001 REFERENCE PMID:29290614 AUTHORS Nicholls TJ, Nadalutti CA, Motori E, Sommerville EW, Gorman GS, Basu S, Hoberg E, Turnbull DM, Chinnery PF, Larsson NG, Larsson E, Falkenberg M, Taylor RW, Griffith JD, Gustafsson CM TITLE Topoisomerase 3alpha Is Required for Decatenation and Segregation of Human mtDNA. JOURNAL Mol Cell 69:9-23.e6 (2018) DOI:10.1016/j.molcel.2017.11.033 /// ENTRY 7157v1 Variant NAME TP53 mutation GENE TP53 tumor protein p53 [KO:K04451] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutation R175H ClinVar: 12374 dbSNP: rs28934578 VARIATION mutation R248Q ClinVar: 12356 dbSNP: rs11540652 VARIATION mutation R273H ClinVar: 12366 dbSNP: rs28934576 VARIATION mutation R248W ClinVar: 12347 dbSNP: rs121912651 VARIATION mutation G245S ClinVar: 12365 dbSNP: rs28934575 VARIATION mutation R273C ClinVar: 43594 dbSNP: rs121913343 VARIATION mutation R282W ClinVar: 12364 dbSNP: rs28934574 VARIATION mutation G245D ClinVar: 12355 dbSNP: rs121912656 VARIATION mutation Y220C ClinVar: 127819 dbSNP: rs121912666 VARIATION mutation C176S ClinVar: 376570 dbSNP: rs967461896 VARIATION mutation L257Q ClinVar: 12372 dbSNP: rs28934577 NETWORK nt06240 Transcription nt06260 Colorectal cancer nt06261 Gastric cancer nt06262 Pancreatic cancer nt06263 Hepatocellular carcinoma nt06265 Bladder cancer nt06266 Non-small cell lung cancer nt06267 Small cell lung cancer nt06268 Melanoma nt06269 Basal cell carcinoma nt06270 Breast cancer nt06271 Endometrial cancer nt06273 Glioma nt06274 Thyroid cancer nt06276 Chronic myeloid leukemia DISEASE H00004 Chronic myeloid leukemia H00013 Small cell lung cancer H00014 Non-small cell lung cancer H00018 Gastric cancer H00019 Pancreatic cancer H00020 Colorectal cancer H00022 Bladder cancer H00026 Endometrial cancer H00031 Breast cancer H00032 Thyroid cancer H00038 Melanoma H00039 Basal cell carcinoma H00042 Glioma H00048 Hepatocellular carcinoma REFERENCE PMID:22713868 AUTHORS Freed-Pastor WA, Prives C TITLE Mutant p53: one name, many proteins. JOURNAL Genes Dev 26:1268-86 (2012) DOI:10.1101/gad.190678.112 REFERENCE PMID:24651012 AUTHORS Muller PA, Vousden KH TITLE Mutant p53 in cancer: new functions and therapeutic opportunities. JOURNAL Cancer Cell 25:304-17 (2014) DOI:10.1016/j.ccr.2014.01.021 REFERENCE PMID:10381922 AUTHORS Vautier G, Bomford AB, Portmann BC, Metivier E, Williams R, Ryder SD TITLE p53 mutations in british patients with hepatocellular carcinoma: clustering in genetic hemochromatosis. JOURNAL Gastroenterology 117:154-60 (1999) DOI:10.1016/S0016-5085(99)70562-7 /// ENTRY 715v1 Variant NAME C1R mutation GENE C1R complement C1r [KO:K01330] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 613785 NETWORK nt06513 Complement cascade DISEASE H00102 Classic complement pathway component defects H02240 Ehlers-Danlos syndrome periodontal type REFERENCE PMID:17162365 AUTHORS Kumar A, Teuber SS, Gershwin ME. TITLE Current perspectives on primary immunodeficiency diseases. JOURNAL Clin Dev Immunol 13:223-59 (2006) DOI:10.1080/17402520600800705 REFERENCE PMID:32732924 AUTHORS Malfait F, Castori M, Francomano CA, Giunta C, Kosho T, Byers PH TITLE The Ehlers-Danlos syndromes. JOURNAL Nat Rev Dis Primers 6:64 (2020) DOI:10.1038/s41572-020-0194-9 /// ENTRY 716v1 Variant NAME C1S mutation GENE C1S complement C1s [KO:K01331] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 120580 NETWORK nt06513 Complement cascade DISEASE H00102 Classic complement pathway component defects H02240 Ehlers-Danlos syndrome periodontal type REFERENCE PMID:17162365 AUTHORS Kumar A, Teuber SS, Gershwin ME. TITLE Current perspectives on primary immunodeficiency diseases. JOURNAL Clin Dev Immunol 13:223-59 (2006) DOI:10.1080/17402520600800705 REFERENCE PMID:32732924 AUTHORS Malfait F, Castori M, Francomano CA, Giunta C, Kosho T, Byers PH TITLE The Ehlers-Danlos syndromes. JOURNAL Nat Rev Dis Primers 6:64 (2020) DOI:10.1038/s41572-020-0194-9 /// ENTRY 7172v1 Variant NAME TPMT polymorphism for poor drug metabolism GENE TPMT thiopurine S-methyltransferase [KO:K00569] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION *2 mutation A80P ClinVar: 12721 dbSNP: rs1800462 VARIATION *4 G>A at splice junction ClinVar: 12723 dbSNP: rs1800584 REFERENCE PMID:24134832 AUTHORS Gharani N, Keller MA, Stack CB, Hodges LM, Schmidlen TJ, Lynch DE, Gordon ES, Christman MF TITLE The Coriell personalized medicine collaborative pharmacogenomics appraisal, evidence scoring and interpretation system. JOURNAL Genome Med 5:93 (2013) DOI:10.1186/gm499 /// ENTRY 7173v1 Variant NAME TPO mutation GENE TPO thyroid peroxidase [KO:K00431] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 606765 NETWORK nt06322 TRH-TSH-TH signaling DISEASE H00251 Thyroid dyshormonogenesis REFERENCE PMID:17468186 AUTHORS Avbelj M, Tahirovic H, Debeljak M, Kusekova M, Toromanovic A, Krzisnik C, Battelino T TITLE High prevalence of thyroid peroxidase gene mutations in patients with thyroid dyshormonogenesis. JOURNAL Eur J Endocrinol 156:511-9 (2007) DOI:10.1530/EJE-07-0037 REFERENCE PMID:30324792 AUTHORS Peters C, van Trotsenburg ASP, Schoenmakers N TITLE DIAGNOSIS OF ENDOCRINE DISEASE: Congenital hypothyroidism: update and perspectives JOURNAL Eur J Endocrinol 179:R297-R317 (2018) DOI:10.1530/EJE-18-0383 REFERENCE PMID:15611820 AUTHORS Vono-Toniolo J, Kopp P TITLE Thyroglobulin gene mutations and other genetic defects associated with congenital hypothyroidism. JOURNAL Arq Bras Endocrinol Metabol 48:70-82 (2004) DOI:10.1590/S0004-27302004000100009 REFERENCE PMID:21543982 AUTHORS Grasberger H, Refetoff S TITLE Genetic causes of congenital hypothyroidism due to dyshormonogenesis. JOURNAL Curr Opin Pediatr 23:421-8 (2011) DOI:10.1097/MOP.0b013e32834726a4 /// ENTRY 717v1 Variant NAME C2 mutation GENE C2 complement C2 [KO:K01332] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 613927 NETWORK nt06513 Complement cascade DISEASE H00102 Classic complement pathway component defects H00821 Age-related macular degeneration REFERENCE PMID:8621452 AUTHORS Wetsel RA, Kulics J, Lokki ML, Kiepiela P, Akama H, Johnson CA, Densen P, Colten HR TITLE Type II human complement C2 deficiency. Allele-specific amino acid substitutions (Ser189 --> Phe; Gly444 --> Arg) cause impaired C2 secretion. JOURNAL J Biol Chem 271:5824-31 (1996) DOI:10.1074/jbc.271.10.5824 REFERENCE PMID:31156618 AUTHORS Park DH, Connor KM, Lambris JD TITLE The Challenges and Promise of Complement Therapeutics for Ocular Diseases. JOURNAL Front Immunol 10:1007 (2019) DOI:10.3389/fimmu.2019.01007 /// ENTRY 7187v1 Variant NAME TRAF3 mutation GENE TRAF3 TNF receptor associated factor 3 [KO:K03174] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 601896 NETWORK nt06517 TLR signaling DISEASE H02536 Infection-induced acute encephalopathy REFERENCE PMID:20832341 AUTHORS Perez de Diego R, Sancho-Shimizu V, Lorenzo L, Puel A, Plancoulaine S, Picard C, Herman M, Cardon A, Durandy A, Bustamante J, Vallabhapurapu S, Bravo J, Warnatz K, Chaix Y, Cascarrigny F, Lebon P, Rozenberg F, Karin M, Tardieu M, Al-Muhsen S, Jouanguy E, Zhang SY, Abel L, Casanova JL TITLE Human TRAF3 adaptor molecule deficiency leads to impaired Toll-like receptor 3 response and susceptibility to herpes simplex encephalitis. JOURNAL Immunity 33:400-11 (2010) DOI:10.1016/j.immuni.2010.08.014 /// ENTRY 718v1 Variant NAME C3 mutation GENE C3 complement C3 [KO:K03990] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 120700 NETWORK nt06513 Complement cascade DISEASE H00102 Classic complement pathway component defects H00821 Age-related macular degeneration H01434 Atypical hemolytic uremic syndrome REFERENCE PMID:1976733 AUTHORS Botto M, Fong KY, So AK, Koch C, Walport MJ TITLE Molecular basis of polymorphisms of human complement component C3. JOURNAL J Exp Med 172:1011-7 (1990) DOI:10.1084/jem.172.4.1011 REFERENCE PMID:31156618 AUTHORS Park DH, Connor KM, Lambris JD TITLE The Challenges and Promise of Complement Therapeutics for Ocular Diseases. JOURNAL Front Immunol 10:1007 (2019) DOI:10.3389/fimmu.2019.01007 REFERENCE PMID:32950988 AUTHORS Avila Bernabeu AI, Cavero Escribano T, Cao Vilarino M TITLE Atypical Hemolytic Uremic Syndrome: New Challenges in the Complement Blockage Era. JOURNAL Nephron 144:537-549 (2020) DOI:10.1159/000508920 /// ENTRY 7201v1 Variant NAME TRHR mutation GENE TRHR thyrotropin releasing hormone receptor [KO:K04282] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 188545 NETWORK nt06322 TRH-TSH-TH signaling DISEASE H00250 Congenital nongoitrous hypothyroidism (CHNG) REFERENCE PMID:9141550 AUTHORS Collu R, Tang J, Castagne J, Lagace G, Masson N, Huot C, Deal C, Delvin E, Faccenda E, Eidne KA, Van Vliet G TITLE A novel mechanism for isolated central hypothyroidism: inactivating mutations in the thyrotropin-releasing hormone receptor gene. JOURNAL J Clin Endocrinol Metab 82:1561-5 (1997) DOI:10.1210/jcem.82.5.3918 REFERENCE PMID:19213692 AUTHORS Bonomi M, Busnelli M, Beck-Peccoz P, Costanzo D, Antonica F, Dolci C, Pilotta A, Buzi F, Persani L TITLE A family with complete resistance to thyrotropin-releasing hormone. JOURNAL N Engl J Med 360:731-4 (2009) DOI:10.1056/NEJMc0808557 REFERENCE PMID:19854060 AUTHORS Romero CJ, Nesi-Franca S, Radovick S TITLE The molecular basis of hypopituitarism. JOURNAL Trends Endocrinol Metab 20:506-16 (2009) DOI:10.1016/j.tem.2009.06.005 REFERENCE PMID:30324792 AUTHORS Peters C, van Trotsenburg ASP, Schoenmakers N TITLE DIAGNOSIS OF ENDOCRINE DISEASE: Congenital hypothyroidism: update and perspectives JOURNAL Eur J Endocrinol 179:R297-R317 (2018) DOI:10.1530/EJE-18-0383 /// ENTRY 720v1 Variant NAME C4A mutation GENE C4A complement C4A (Rodgers blood group) [KO:K03989] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 120810 NETWORK nt06513 Complement cascade DISEASE H00102 Classic complement pathway component defects REFERENCE PMID:2295875 AUTHORS Braun L, Schneider PM, Giles CM, Bertrams J, Rittner C TITLE Null alleles of human complement C4. Evidence for pseudogenes at the C4A locus and for gene conversion at the C4B locus. JOURNAL J Exp Med 171:129-40 (1990) DOI:10.1084/jem.171.1.129 REFERENCE PMID:22387014 AUTHORS Boteva L, Morris DL, Cortes-Hernandez J, Martin J, Vyse TJ, Fernando MM TITLE Genetically determined partial complement C4 deficiency states are not independent risk factors for SLE in UK and Spanish populations. JOURNAL Am J Hum Genet 90:445-56 (2012) DOI:10.1016/j.ajhg.2012.01.012 /// ENTRY 721v1 Variant NAME C4B mutation GENE C4B complement C4B (Chido blood group) [KO:K03989] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 120820 NETWORK nt06513 Complement cascade DISEASE H00102 Classic complement pathway component defects REFERENCE PMID:7451653 AUTHORS Awdeh ZL, Ochs HD, Alper CA TITLE Genetic analysis of C4 deficiency. JOURNAL J Clin Invest 67:260-3 (1981) DOI:10.1172/JCI110021 REFERENCE PMID:17162365 AUTHORS Kumar A, Teuber SS, Gershwin ME. TITLE Current perspectives on primary immunodeficiency diseases. JOURNAL Clin Dev Immunol 13:223-59 (2006) DOI:10.1080/17402520600800705 /// ENTRY 7222v1 Variant NAME TRPC3 mutation GENE TRPC3 transient receptor potential cation channel subfamily C member 3 [KO:K04966] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 602345 NETWORK nt06462 Spinocerebellar ataxia nt06466 Pathways of neurodegeneration nt06528 Calcium signaling DISEASE H00063 Spinocerebellar ataxia (SCA) REFERENCE PMID:25477146 AUTHORS Fogel BL, Hanson SM, Becker EB TITLE Do mutations in the murine ataxia gene TRPC3 cause cerebellar ataxia in humans? JOURNAL Mov Disord 30:284-6 (2015) DOI:10.1002/mds.26096 /// ENTRY 7248v1 Variant NAME TSC1 mutation GENE TSC1 TSC complex subunit 1 [KO:K07206] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 605284 NETWORK nt06522 mTOR signaling DISEASE H00896 Lymphangioleiomyomatosis H00915 Tuberous sclerosis complex H01251 Focal cortical dysplasia of Taylor REFERENCE PMID:11829138 AUTHORS Sato T, Seyama K, Fujii H, Maruyama H, Setoguchi Y, Iwakami S, Fukuchi Y, Hino O TITLE Mutation analysis of the TSC1 and TSC2 genes in Japanese patients with pulmonary lymphangioleiomyomatosis. JOURNAL J Hum Genet 47:20-8 (2002) DOI:10.1007/s10038-002-8651-8 REFERENCE PMID:12111193 AUTHORS Langkau N, Martin N, Brandt R, Zugge K, Quast S, Wiegele G, Jauch A, Rehm M, Kuhl A, Mack-Vetter M, Zimmerhackl LB, Janssen B TITLE TSC1 and TSC2 mutations in tuberous sclerosis, the associated phenotypes and a model to explain observed TSC1/ TSC2 frequency ratios. JOURNAL Eur J Pediatr 161:393-402 (2002) DOI:10.1007/s00431-001-0903-7 REFERENCE PMID:19918125 AUTHORS Lugnier C, Majores M, Fassunke J, Pernhorst K, Niehusmann P, Simon M, Nellist M, Schoch S, Becker A TITLE Hamartin variants that are frequent in focal dysplasias and cortical tubers have reduced tuberin binding and aberrant subcellular distribution in vitro. JOURNAL J Neuropathol Exp Neurol 68:1136-46 (2009) DOI:10.1097/NEN.0b013e3181b9a699 /// ENTRY 7248v2 Variant NAME TSC1 mutation GENE TSC1 TSC complex subunit 1 [KO:K07206] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutation Q145* ClinVar: 49041 NETWORK nt06522 mTOR signaling DISEASE H01691 Renal angiomyolipoma H01692 Subependymal giant cell astrocytoma REFERENCE PMID:31927531 AUTHORS Jiangyi W, Gang G, Guohai S, Dingwei Y TITLE Germline mutation of TSC1 or TSC2 gene in Chinese patients with bilateral renal angiomyolipomas and mutation spectrum of Chinese TSC patients. JOURNAL Aging (Albany NY) 12:756-766 (2020) DOI:10.18632/aging.102654 REFERENCE PMID:32103336 AUTHORS Fohlen M, Harzallah I, Polivka M, Giuliano F, Pons L, Streichenberger N, Dorfmuller G, Touraine R TITLE Identification of TSC1 or TSC2 mutation limited to the tumor in three cases of solitary subependymal giant cell astrocytoma using next-generation sequencing technology. JOURNAL Childs Nerv Syst 36:961-965 (2020) DOI:10.1007/s00381-020-04551-4 /// ENTRY 7249v1 Variant NAME TSC2 mutation GENE TSC2 TSC complex subunit 2 [KO:K07207] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 191092 NETWORK nt06522 mTOR signaling DISEASE H00896 Lymphangioleiomyomatosis H00915 Tuberous sclerosis complex H01251 Focal cortical dysplasia of Taylor REFERENCE PMID:11829138 AUTHORS Sato T, Seyama K, Fujii H, Maruyama H, Setoguchi Y, Iwakami S, Fukuchi Y, Hino O TITLE Mutation analysis of the TSC1 and TSC2 genes in Japanese patients with pulmonary lymphangioleiomyomatosis. JOURNAL J Hum Genet 47:20-8 (2002) DOI:10.1007/s10038-002-8651-8 REFERENCE PMID:12111193 AUTHORS Langkau N, Martin N, Brandt R, Zugge K, Quast S, Wiegele G, Jauch A, Rehm M, Kuhl A, Mack-Vetter M, Zimmerhackl LB, Janssen B TITLE TSC1 and TSC2 mutations in tuberous sclerosis, the associated phenotypes and a model to explain observed TSC1/ TSC2 frequency ratios. JOURNAL Eur J Pediatr 161:393-402 (2002) DOI:10.1007/s00431-001-0903-7 REFERENCE PMID:19918125 AUTHORS Lugnier C, Majores M, Fassunke J, Pernhorst K, Niehusmann P, Simon M, Nellist M, Schoch S, Becker A TITLE Hamartin variants that are frequent in focal dysplasias and cortical tubers have reduced tuberin binding and aberrant subcellular distribution in vitro. JOURNAL J Neuropathol Exp Neurol 68:1136-46 (2009) DOI:10.1097/NEN.0b013e3181b9a699 /// ENTRY 7249v2 Variant NAME TSC2 mutation GENE TSC2 TSC complex subunit 2 [KO:K07207] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutation R458* ClinVar: 49153 NETWORK nt06522 mTOR signaling DISEASE H01691 Renal angiomyolipoma H01692 Subependymal giant cell astrocytoma REFERENCE PMID:31927531 AUTHORS Jiangyi W, Gang G, Guohai S, Dingwei Y TITLE Germline mutation of TSC1 or TSC2 gene in Chinese patients with bilateral renal angiomyolipomas and mutation spectrum of Chinese TSC patients. JOURNAL Aging (Albany NY) 12:756-766 (2020) DOI:10.18632/aging.102654 REFERENCE PMID:32103336 AUTHORS Fohlen M, Harzallah I, Polivka M, Giuliano F, Pons L, Streichenberger N, Dorfmuller G, Touraine R TITLE Identification of TSC1 or TSC2 mutation limited to the tumor in three cases of solitary subependymal giant cell astrocytoma using next-generation sequencing technology. JOURNAL Childs Nerv Syst 36:961-965 (2020) DOI:10.1007/s00381-020-04551-4 /// ENTRY 7252v1 Variant NAME TSHB mutation GENE TSHB thyroid stimulating hormone subunit beta [KO:K05251] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 188540 NETWORK nt06322 TRH-TSH-TH signaling DISEASE H00250 Congenital nongoitrous hypothyroidism (CHNG) REFERENCE PMID:2792087 AUTHORS Hayashizaki Y, Hiraoka Y, Endo Y, Miyai K, Matsubara K TITLE Thyroid-stimulating hormone (TSH) deficiency caused by a single base substitution in the CAGYC region of the beta-subunit. JOURNAL EMBO J 8:2291-6 (1989) DOI:10.1002/j.1460-2075.1989.tb08355.x REFERENCE PMID:1971148 AUTHORS Dacou-Voutetakis C, Feltquate DM, Drakopoulou M, Kourides IA, Dracopoli NC TITLE Familial hypothyroidism caused by a nonsense mutation in the thyroid-stimulating hormone beta-subunit gene. JOURNAL Am J Hum Genet 46:988-93 (1990) REFERENCE PMID:15611820 AUTHORS Vono-Toniolo J, Kopp P TITLE Thyroglobulin gene mutations and other genetic defects associated with congenital hypothyroidism. JOURNAL Arq Bras Endocrinol Metabol 48:70-82 (2004) DOI:10.1590/S0004-27302004000100009 REFERENCE PMID:19936667 AUTHORS Muthukrishnan J, Harikumar KV, Verma A, Modi K TITLE Central hypothyroidism. JOURNAL Indian J Pediatr 77:94-6 (2010) DOI:10.1007/s12098-009-0248-1 REFERENCE PMID:27362444 AUTHORS Nicholas AK, Jaleel S, Lyons G, Schoenmakers E, Dattani MT, Crowne E, Bernhard B, Kirk J, Roche EF, Chatterjee VK, Schoenmakers N TITLE Molecular spectrum of TSHbeta subunit gene defects in central hypothyroidism in the UK and Ireland. JOURNAL Clin Endocrinol (Oxf) 86:410-418 (2017) DOI:10.1111/cen.13149 /// ENTRY 7253v1 Variant NAME TSHR inactivating mutation GENE TSHR thyroid stimulating hormone receptor [KO:K04249] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutation R450H ClinVar: 225505 dbSNP: rs189261858 VARIATION mutation I167N ClinVar: 6434 dbSNP: rs121908862 VARIATION mutation P162A ClinVar: 6435 dbSNP: rs121908863 VARIATION mutation R109Q ClinVar: 6438 dbSNP: rs121908865 VARIATION mutations OmimVar: 603372 NETWORK nt06322 TRH-TSH-TH signaling DISEASE H00250 Congenital nongoitrous hypothyroidism (CHNG) REFERENCE PMID:21714469 AUTHORS Ma SG, Fang PH, Hong B, Yu WN TITLE The R450H mutation and D727E polymorphism of the thyrotropin receptor gene in a Chinese child with congenital hypothyroidism. JOURNAL J Pediatr Endocrinol Metab 23:1339-44 (2010) DOI:10.1515/jpem.2010.209 REFERENCE PMID:7528344 AUTHORS Sunthornthepvarakul T, Gottschalk ME, Hayashi Y, Refetoff S TITLE Brief report: resistance to thyrotropin caused by mutations in the thyrotropin-receptor gene. JOURNAL N Engl J Med 332:155-60 (1995) DOI:10.1056/NEJM199501193320305 REFERENCE PMID:9100579 AUTHORS Clifton-Bligh RJ, Gregory JW, Ludgate M, John R, Persani L, Asteria C, Beck-Peccoz P, Chatterjee VK TITLE Two novel mutations in the thyrotropin (TSH) receptor gene in a child with resistance to TSH. JOURNAL J Clin Endocrinol Metab 82:1094-100 (1997) DOI:10.1210/jcem.82.4.3863 REFERENCE PMID:30324792 AUTHORS Peters C, van Trotsenburg ASP, Schoenmakers N TITLE DIAGNOSIS OF ENDOCRINE DISEASE: Congenital hypothyroidism: update and perspectives JOURNAL Eur J Endocrinol 179:R297-R317 (2018) DOI:10.1530/EJE-18-0383 REFERENCE PMID:15611820 AUTHORS Vono-Toniolo J, Kopp P TITLE Thyroglobulin gene mutations and other genetic defects associated with congenital hypothyroidism. JOURNAL Arq Bras Endocrinol Metabol 48:70-82 (2004) DOI:10.1590/S0004-27302004000100009 /// ENTRY 7253v2 Variant NAME TSHR activating mutation GENE TSHR thyroid stimulating hormone receptor [KO:K04249] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutation F631L ClinVar: 6433 dbSNP: rs121908861 VARIATION mutation M453T ClinVar: 6436 dbSNP: rs121908864 VARIATION mutation S505N ClinVar: 6450 dbSNP: rs121908876 NETWORK nt06322 TRH-TSH-TH signaling DISEASE H01269 Congenital hyperthyroidism REFERENCE PMID:20926595 AUTHORS Hebrant A, van Staveren WC, Maenhaut C, Dumont JE, Leclere J TITLE Genetic hyperthyroidism: hyperthyroidism due to activating TSHR mutations. JOURNAL Eur J Endocrinol 164:1-9 (2011) DOI:10.1530/EJE-10-0775 REFERENCE PMID:7800007 AUTHORS Kopp P, van Sande J, Parma J, Duprez L, Gerber H, Joss E, Jameson JL, Dumont JE, Vassart G TITLE Brief report: congenital hyperthyroidism caused by a mutation in the thyrotropin-receptor gene. JOURNAL N Engl J Med 332:150-4 (1995) DOI:10.1056/NEJM199501193320304 REFERENCE PMID:7920658 AUTHORS Duprez L, Parma J, Van Sande J, Allgeier A, Leclere J, Schvartz C, Delisle MJ, Decoulx M, Orgiazzi J, Dumont J, et al. TITLE Germline mutations in the thyrotropin receptor gene cause non-autoimmune autosomal dominant hyperthyroidism. JOURNAL Nat Genet 7:396-401 (1994) DOI:10.1038/ng0794-396 REFERENCE PMID:9360555 AUTHORS Holzapfel HP, Wonerow P, von Petrykowski W, Henschen M, Scherbaum WA, Paschke R TITLE Sporadic congenital hyperthyroidism due to a spontaneous germline mutation in the thyrotropin receptor gene. JOURNAL J Clin Endocrinol Metab 82:3879-84 (1997) DOI:10.1210/jcem.82.11.4378 REFERENCE PMID:30599487 AUTHORS Cho WK, Ahn MB, Jang W, Chae H, Kim M, Suh BK TITLE Nonautoimmune congenital hyperthyroidism due to p.Asp633Glu mutation in the TSHR gene. JOURNAL Ann Pediatr Endocrinol Metab 23:235-239 (2018) DOI:10.6065/apem.2018.23.4.235 REFERENCE PMID:8981020 AUTHORS Paschke R TITLE Constitutively activating TSH receptor mutations as the cause of toxic thyroid adenoma, multinodular toxic goiter and autosomal dominant non autoimmune hyperthyroidism. JOURNAL Exp Clin Endocrinol Diabetes 104 Suppl 4:129-32 (1996) DOI:10.1055/s-0029-1211720 /// ENTRY 7277v1 Variant NAME TUBA4A mutation GENE TUBA4A tubulin alpha 4a [KO:K07374] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 191110 NETWORK nt06464 Amyotrophic lateral sclerosis nt06466 Pathways of neurodegeneration nt06515 Regulation of kinetochore-microtubule interactions DISEASE H00058 Amyotrophic lateral sclerosis (ALS) REFERENCE PMID:25374358 AUTHORS Smith BN, Ticozzi N, Fallini C, Gkazi AS, Topp S, Kenna KP, Scotter EL, Kost J, Keagle P, Miller JW, Calini D, Vance C, Danielson EW, Troakes C, Tiloca C, Al-Sarraj S, Lewis EA, King A, Colombrita C, Pensato V, Castellotti B, de Belleroche J, Baas F, ten Asbroek AL, Sapp PC, McKenna-Yasek D, McLaughlin RL, Polak M, Asress S, Esteban-Perez J, Munoz-Blanco JL, Simpson M, van Rheenen W, Diekstra FP, Lauria G, Duga S, Corti S, Cereda C, Corrado L, Soraru G, Morrison KE, Williams KL, Nicholson GA, Blair IP, Dion PA, Leblond CS, Rouleau GA, Hardiman O, Veldink JH, van den Berg LH, Al-Chalabi A, Pall H, Shaw PJ, Turner MR, Talbot K, Taroni F, Garcia-Redondo A, Wu Z, Glass JD, Gellera C, Ratti A, Brown RH Jr, Silani V, Shaw CE, Landers JE TITLE Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS. JOURNAL Neuron 84:324-31 (2014) DOI:10.1016/j.neuron.2014.09.027 /// ENTRY 727v1 Variant NAME C5 mutation GENE C5 complement C5 [KO:K03994] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 120900 NETWORK nt06513 Complement cascade DISEASE H00103 Late complement pathway defects REFERENCE PMID:7730648 AUTHORS Wang X, Fleischer DT, Whitehead WT, Haviland DL, Rosenfeld SI, Leddy JP, Snyderman R, Wetsel RA TITLE Inherited human complement C5 deficiency. Nonsense mutations in exons 1 (Gln1 to Stop) and 36 (Arg1458 to Stop) and compound heterozygosity in three African-American families. JOURNAL J Immunol 154:5464-71 (1995) /// ENTRY 7280v1 Variant NAME TUBB2A mutation GENE TUBB2A tubulin beta 2A class IIa [KO:K07375] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 615101 NETWORK nt06515 Regulation of kinetochore-microtubule interactions DISEASE H01881 Complex cortical dysplasia with other brain malformations REFERENCE PMID:24702957 AUTHORS Cushion TD, Paciorkowski AR, Pilz DT, Mullins JG, Seltzer LE, Marion RW, Tuttle E, Ghoneim D, Christian SL, Chung SK, Rees MI, Dobyns WB TITLE De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy. JOURNAL Am J Hum Genet 94:634-41 (2014) DOI:10.1016/j.ajhg.2014.03.009 /// ENTRY 7283v1 Variant NAME TUBG1 mutation GENE TUBG1 tubulin gamma 1 [KO:K10389] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 191135 NETWORK nt06515 Regulation of kinetochore-microtubule interactions DISEASE H01881 Complex cortical dysplasia with other brain malformations REFERENCE PMID:23603762 AUTHORS Poirier K, Lebrun N, Broix L, Tian G, Saillour Y, Boscheron C, Parrini E, Valence S, Pierre BS, Oger M, Lacombe D, Genevieve D, Fontana E, Darra F, Cances C, Barth M, Bonneau D, Bernadina BD, N'guyen S, Gitiaux C, Parent P, des Portes V, Pedespan JM, Legrez V, Castelnau-Ptakine L, Nitschke P, Hieu T, Masson C, Zelenika D, Andrieux A, Francis F, Guerrini R, Cowan NJ, Bahi-Buisson N, Chelly J TITLE Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. JOURNAL Nat Genet 45:639-47 (2013) DOI:10.1038/ng.2613 /// ENTRY 729920v1 Variant NAME ISPD deficiency GENE CRPPA CDP-L-ribitol pyrophosphorylase A [KO:K21031] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 614631 NETWORK nt06013 O-Glycan biosynthesis DISEASE H01959 Muscular dystrophy-dystroglycanopathy type C REFERENCE PMID:22522421 AUTHORS Roscioli T, Kamsteeg EJ, Buysse K, Maystadt I, van Reeuwijk J, van den Elzen C, van Beusekom E, Riemersma M, Pfundt R, Vissers LE, Schraders M, Altunoglu U, Buckley MF, Brunner HG, Grisart B, Zhou H, Veltman JA, Gilissen C, Mancini GM, Delree P, Willemsen MA, Ramadza DP, Chitayat D, Bennett C, Sheridan E, Peeters EA, Tan-Sindhunata GM, de Die-Smulders CE, Devriendt K, Kayserili H, El-Hashash OA, Stemple DL, Lefeber DJ, Lin YY, van Bokhoven H TITLE Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of alpha-dystroglycan. JOURNAL Nat Genet 44:581-5 (2012) DOI:10.1038/ng.2253 /// ENTRY 7299v1 Variant NAME TYR deficiency GENE TYR tyrosinase [KO:K00505] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 606933 NETWORK nt06028 Dopamine and serotonin metabolism DISEASE H00168 Oculocutaneous albinism REFERENCE PMID:2511845 AUTHORS Tomita Y, Takeda A, Okinaga S, Tagami H, Shibahara S TITLE Human oculocutaneous albinism caused by single base insertion in the tyrosinase gene. JOURNAL Biochem Biophys Res Commun 164:990-6 (1989) DOI:10.1016/0006-291x(89)91767-1 /// ENTRY 729v1 Variant NAME C6 mutation GENE C6 complement C6 [KO:K03995] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 217050 NETWORK nt06513 Complement cascade DISEASE H00103 Late complement pathway defects REFERENCE PMID:8690922 AUTHORS Nishizaka H, Horiuchi T, Zhu ZB, Fukumori Y, Nagasawa K, Hayashi K, Krumdieck R, Cobbs CG, Higuchi M, Yasunaga S, Niho Y, Volanakis JE TITLE Molecular bases for inherited human complement component C6 deficiency in two unrelated individuals. JOURNAL J Immunol 156:2309-15 (1996) /// ENTRY 7306v1 Variant NAME TYRP1 deficiency GENE TYRP1 tyrosinase related protein 1 [KO:K00506] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 115501 NETWORK nt06028 Dopamine and serotonin metabolism DISEASE H00168 Oculocutaneous albinism REFERENCE PMID:16704458 AUTHORS Rooryck C, Roudaut C, Robine E, Musebeck J, Arveiler B TITLE Oculocutaneous albinism with TYRP1 gene mutations in a Caucasian patient. JOURNAL Pigment Cell Res 19:239-42 (2006) DOI:10.1111/j.1600-0749.2006.00298.x /// ENTRY 730v1 Variant NAME C7 mutation GENE C7 complement C7 [KO:K03996] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 217070 NETWORK nt06513 Complement cascade DISEASE H00103 Late complement pathway defects REFERENCE PMID:8892662 AUTHORS Nishizaka H, Horiuchi T, Zhu ZB, Fukumori Y, Volanakis JE TITLE Genetic bases of human complement C7 deficiency. JOURNAL J Immunol 157:4239-43 (1996) /// ENTRY 731v1 Variant NAME C8A mutation GENE C8A complement C8 alpha chain [KO:K03997] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 120950 NETWORK nt06513 Complement cascade DISEASE H00103 Late complement pathway defects REFERENCE PMID:11435463 AUTHORS de la Calle-Martin O, Hernandez M, Ordi J, Casamitjana N, Arostegui JI, Caragol I, Ferrando M, Labrador M, Rodriguez-Sanchez JL, Espanol T TITLE Familial CD8 deficiency due to a mutation in the CD8 alpha gene. JOURNAL J Clin Invest 108:117-23 (2001) DOI:10.1172/JCI10993 /// ENTRY 732v1 Variant NAME C8B mutation GENE C8B complement C8 beta chain [KO:K03998] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 120960 NETWORK nt06513 Complement cascade DISEASE H00103 Late complement pathway defects REFERENCE PMID:7594510 AUTHORS Saucedo L, Ackermann L, Platonov AE, Gewurz A, Rakita RM, Densen P TITLE Delineation of additional genetic bases for C8 beta deficiency. Prevalence of null alleles and predominance of C-->T transition in their genesis. JOURNAL J Immunol 155:5022-8 (1995) /// ENTRY 7345v1 Variant NAME UCHL1 mutation GENE UCHL1 ubiquitin C-terminal hydrolase L1 [KO:K05611] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 191342 NETWORK nt06463 Parkinson disease nt06466 Pathways of neurodegeneration DISEASE H00057 Parkinson disease REFERENCE PMID:22839974 AUTHORS Miyake Y, Tanaka K, Fukushima W, Kiyohara C, Sasaki S, Tsuboi Y, Yamada T, Oeda T, Shimada H, Kawamura N, Sakae N, Fukuyama H, Hirota Y, Nagai M TITLE UCHL1 S18Y variant is a risk factor for Parkinson's disease in Japan. JOURNAL BMC Neurol 12:62 (2012) DOI:10.1186/1471-2377-12-62 REFERENCE PMID:9774100 AUTHORS Leroy E, Boyer R, Auburger G, Leube B, Ulm G, Mezey E, Harta G, Brownstein MJ, Jonnalagada S, Chernova T, Dehejia A, Lavedan C, Gasser T, Steinbach PJ, Wilkinson KD, Polymeropoulos MH TITLE The ubiquitin pathway in Parkinson's disease. JOURNAL Nature 395:451-2 (1998) DOI:10.1038/26652 /// ENTRY 7350v1 Variant NAME UCP1 polymorphism GENE UCP1 uncoupling protein 1 [KO:K08769] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION polymorphism OmimVar: 113730 NETWORK nt06529 Thermogenesis DISEASE H02106 Genetic obesity REFERENCE PMID:30458724 AUTHORS Chathoth S, Ismail MH, Vatte C, Cyrus C, Al Ali Z, Ahmed KA, Acharya S, Al Barqi AM, Al Ali A TITLE Association of Uncoupling Protein 1 (UCP1) gene polymorphism with obesity: a case-control study. JOURNAL BMC Med Genet 19:203 (2018) DOI:10.1186/s12881-018-0715-5 /// ENTRY 7355v1 Variant NAME SLC35A2 mutation GENE SLC35A2 solute carrier family 35 member A2 [KO:K15272] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 314375 NETWORK nt06015 N-Glycan biosynthesis DISEASE H00119 Congenital disorders of glycosylation type II REFERENCE PMID:23561849 AUTHORS Ng BG, Buckingham KJ, Raymond K, Kircher M, Turner EH, He M, Smith JD, Eroshkin A, Szybowska M, Losfeld ME, Chong JX, Kozenko M, Li C, Patterson MC, Gilbert RD, Nickerson DA, Shendure J, Bamshad MJ, Freeze HH TITLE Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation. JOURNAL Am J Hum Genet 92:632-6 (2013) DOI:10.1016/j.ajhg.2013.03.012 /// ENTRY 735v1 Variant NAME C9 mutation GENE C9 complement C9 [KO:K04000] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 120940 NETWORK nt06513 Complement cascade DISEASE H00103 Late complement pathway defects H00821 Age-related macular degeneration REFERENCE PMID:9570574 AUTHORS Horiuchi T, Nishizaka H, Kojima T, Sawabe T, Niho Y, Schneider PM, Inaba S, Sakai K, Hayashi K, Hashimura C, Fukumori Y TITLE A non-sense mutation at Arg95 is predominant in complement 9 deficiency in Japanese. JOURNAL J Immunol 160:1509-13 (1998) REFERENCE PMID:31156618 AUTHORS Park DH, Connor KM, Lambris JD TITLE The Challenges and Promise of Complement Therapeutics for Ocular Diseases. JOURNAL Front Immunol 10:1007 (2019) DOI:10.3389/fimmu.2019.01007 /// ENTRY 7374v1 Variant NAME UNG mutation GENE UNG uracil DNA glycosylase [KO:K03648] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 191525 NETWORK nt06504 Base excision repair DISEASE H00086 Hyper IgM syndromes, autosomal recessive type REFERENCE PMID:15967827 AUTHORS Kavli B, Andersen S, Otterlei M, Liabakk NB, Imai K, Fischer A, Durandy A, Krokan HE, Slupphaug G TITLE B cells from hyper-IgM patients carrying UNG mutations lack ability to remove uracil from ssDNA and have elevated genomic uracil. JOURNAL J Exp Med 201:2011-21 (2005) DOI:10.1084/jem.20050042 /// ENTRY 7381v1 Variant NAME UQCRB mutation GENE UQCRB ubiquinol-cytochrome c reductase binding protein [KO:K00417] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 191330 NETWORK nt06529 Thermogenesis DISEASE H02086 Mitochondrial complex III deficiency REFERENCE PMID:12709789 AUTHORS Haut S, Brivet M, Touati G, Rustin P, Lebon S, Garcia-Cazorla A, Saudubray JM, Boutron A, Legrand A, Slama A TITLE A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosis. JOURNAL Hum Genet 113:118-22 (2003) DOI:10.1007/s00439-003-0946-0 /// ENTRY 7385v1 Variant NAME UQCRC2 mutation GENE UQCRC2 ubiquinol-cytochrome c reductase core protein 2 [KO:K00415] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 191329 NETWORK nt06529 Thermogenesis DISEASE H02086 Mitochondrial complex III deficiency REFERENCE PMID:23281071 AUTHORS Miyake N, Yano S, Sakai C, Hatakeyama H, Matsushima Y, Shiina M, Watanabe Y, Bartley J, Abdenur JE, Wang RY, Chang R, Tsurusaki Y, Doi H, Nakashima M, Saitsu H, Ogata K, Goto Y, Matsumoto N TITLE Mitochondrial complex III deficiency caused by a homozygous UQCRC2 mutation presenting with neonatal-onset recurrent metabolic decompensation. JOURNAL Hum Mutat 34:446-52 (2013) DOI:10.1002/humu.22257 /// ENTRY 7386v1 Variant NAME UQCRFS1 mutation GENE UQCRFS1 ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 [KO:K00411] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 614461 NETWORK nt06529 Thermogenesis DISEASE H02086 Mitochondrial complex III deficiency REFERENCE PMID:24385928 AUTHORS Tucker EJ, Wanschers BF, Szklarczyk R, Mountford HS, Wijeyeratne XW, van den Brand MA, Leenders AM, Rodenburg RJ, Reljic B, Compton AG, Frazier AE, Bruno DL, Christodoulou J, Endo H, Ryan MT, Nijtmans LG, Huynen MA, Thorburn DR TITLE Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression. JOURNAL PLoS Genet 9:e1004034 (2013) DOI:10.1371/journal.pgen.1004034 /// ENTRY 7389v1 Variant NAME UROD deficiency GENE UROD uroporphyrinogen decarboxylase [KO:K01599] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 613521 NETWORK nt06011 Heme biosynthesis DISEASE H01763 Porphyria REFERENCE PMID:8644733 AUTHORS Moran-Jimenez MJ, Ged C, Romana M, Enriquez De Salamanca R, Taieb A, Topi G, D'Alessandro L, de Verneuil H TITLE Uroporphyrinogen decarboxylase: complete human gene sequence and molecular study of three families with hepatoerythropoietic porphyria. JOURNAL Am J Hum Genet 58:712-21 (1996) /// ENTRY 7390v1 Variant NAME UROS deficiency GENE UROS uroporphyrinogen III synthase [KO:K01719] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 606938 NETWORK nt06011 Heme biosynthesis DISEASE H01763 Porphyria REFERENCE PMID:1737856 AUTHORS Warner CA, Yoo HW, Roberts AG, Desnick RJ TITLE Congenital erythropoietic porphyria: identification and expression of exonic mutations in the uroporphyrinogen III synthase gene. JOURNAL J Clin Invest 89:693-700 (1992) DOI:10.1172/JCI115637 /// ENTRY 7415v1 Variant NAME VCP mutation GENE VCP valosin containing protein [KO:K13525] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 601023 NETWORK nt06464 Amyotrophic lateral sclerosis nt06466 Pathways of neurodegeneration nt06509 DNA replication DISEASE H00058 Amyotrophic lateral sclerosis (ALS) H00264 Charcot-Marie-Tooth disease H02031 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia H02342 Frontotemporal dementia and amyotrophic lateral sclerosis REFERENCE PMID:29605155 AUTHORS Nguyen HP, Van Broeckhoven C, van der Zee J TITLE ALS Genes in the Genomic Era and their Implications for FTD. JOURNAL Trends Genet 34:404-423 (2018) DOI:10.1016/j.tig.2018.03.001 REFERENCE PMID:28852382 AUTHORS Khalil B, Lievens JC TITLE Mitochondrial quality control in amyotrophic lateral sclerosis: towards a common pathway? JOURNAL Neural Regen Res 12:1052-1061 (2017) DOI:10.4103/1673-5374.211179 /// ENTRY 7428v1 Variant NAME VHL loss GENE VHL von Hippel-Lindau tumor suppressor [KO:K03871] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION Allelic loss on 3p NETWORK nt06225 HIF-1 signaling nt06264 Renal cell carcinoma DISEASE H00021 Renal cell carcinoma REFERENCE PMID:23892664 AUTHORS Hakimi AA, Pham CG, Hsieh JJ TITLE A clear picture of renal cell carcinoma. JOURNAL Nat Genet 45:849-50 (2013) DOI:10.1038/ng.2708 REFERENCE PMID:20054297 AUTHORS Dalgliesh GL, Furge K, Greenman C, Chen L, Bignell G, Butler A, Davies H, Edkins S, Hardy C, Latimer C, Teague J, Andrews J, Barthorpe S, Beare D, Buck G, Campbell PJ, Forbes S, Jia M, Jones D, Knott H, Kok CY, Lau KW, Leroy C, Lin ML, McBride DJ, Maddison M, Maguire S, McLay K, Menzies A, Mironenko T, Mulderrig L, Mudie L, O'Meara S, Pleasance E, Rajasingham A, Shepherd R, Smith R, Stebbings L, Stephens P, Tang G, Tarpey PS, Turrell K, Dykema KJ, Khoo SK, Petillo D, Wondergem B, Anema J, Kahnoski RJ, Teh BT, Stratton MR, Futreal PA TITLE Systematic sequencing of renal carcinoma reveals inactivation of histone modifying genes. JOURNAL Nature 463:360-3 (2010) DOI:10.1038/nature08672 /// ENTRY 7428v2 Variant NAME VHL mutation GENE VHL von Hippel-Lindau tumor suppressor [KO:K03871] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutation R167Q ClinVar: 2216 dbSNP: rs5030821 COSM: 17983 VARIATION mutation C162F ClinVar: 43604 dbSNP: rs397516444 COSM: 25676 VARIATION mutation N78S ClinVar: 93326 dbSNP: rs5030804 COSM: 17855 5006570 VARIATION mutation Y98H ClinVar: 2223 dbSNP: rs5030809 VARIATION mutation D121Y COSM: 34019 VARIATION mutation V130F COSM: 97148 NETWORK nt06225 HIF-1 signaling nt06264 Renal cell carcinoma DISEASE H00021 Renal cell carcinoma REFERENCE PMID:25371412 AUTHORS Couve S, Ladroue C, Laine E, Mahtouk K, Guegan J, Gad S, Le Jeune H, Le Gentil M, Nuel G, Kim WY, Lecomte B, Pages JC, Collin C, Lasne F, Benusiglio PR, Bressac-de Paillerets B, Feunteun J, Lazar V, Gimenez-Roqueplo AP, Mazure NM, Dessen P, Tchertanov L, Mole DR, Kaelin W, Ratcliffe P, Richard S, Gardie B TITLE Genetic evidence of a precisely tuned dysregulation in the hypoxia signaling pathway during oncogenesis. JOURNAL Cancer Res 74:6554-64 (2014) DOI:10.1158/0008-5472.CAN-14-1161 REFERENCE PMID:21715564 AUTHORS Rechsteiner MP, von Teichman A, Nowicka A, Sulser T, Schraml P, Moch H TITLE VHL gene mutations and their effects on hypoxia inducible factor HIFalpha: identification of potential driver and passenger mutations. JOURNAL Cancer Res 71:5500-11 (2011) DOI:10.1158/0008-5472.CAN-11-0757 REFERENCE PMID:22125026 AUTHORS Arjumand W, Sultana S TITLE Role of VHL gene mutation in human renal cell carcinoma. JOURNAL Tumour Biol 33:9-16 (2012) DOI:10.1007/s13277-011-0257-3 /// ENTRY 7450v1 Variant NAME VWF mutation GENE VWF von Willebrand factor [KO:K03900] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 613160 NETWORK nt06514 Coagulation cascade DISEASE H00219 Hemophilia H02092 von Willebrand disease REFERENCE PMID:27959741 AUTHORS Leebeek FW, Eikenboom JC TITLE Von Willebrand's Disease. JOURNAL N Engl J Med 375:2067-2080 (2016) DOI:10.1056/NEJMra1601561 REFERENCE PMID:30922616 AUTHORS Samuelson Bannow B, Recht M, Negrier C, Hermans C, Berntorp E, Eichler H, Mancuso ME, Klamroth R, O'Hara J, Santagostino E, Matsushita T, Kessler C TITLE Factor VIII: Long-established role in haemophilia A and emerging evidence beyond haemostasis. JOURNAL Blood Rev 35:43-50 (2019) DOI:10.1016/j.blre.2019.03.002 /// ENTRY 7468v1 Variant NAME IGH-MMSET fusion GENE NSD2 nuclear receptor binding SET domain protein 2 [KO:K11424] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION translocation t(4;14)(p16;q32) NETWORK nt06240 Transcription DISEASE H00010 Multiple myeloma REFERENCE PMID:11607813 AUTHORS Bergsagel PL, Kuehl WM TITLE Chromosome translocations in multiple myeloma. JOURNAL Oncogene 20:5611-22 (2001) DOI:10.1038/sj.onc.1204641 REFERENCE PMID:17171682 AUTHORS Lombardi L, Poretti G, Mattioli M, Fabris S, Agnelli L, Bicciato S, Kwee I, Rinaldi A, Ronchetti D, Verdelli D, Lambertenghi-Deliliers G, Bertoni F, Neri A TITLE Molecular characterization of human multiple myeloma cell lines by integrative genomics: insights into the biology of the disease. JOURNAL Genes Chromosomes Cancer 46:226-38 (2007) DOI:10.1002/gcc.20404 /// ENTRY 7471v1 Variant NAME WNT1 mutation GENE WNT1 Wnt family member 1 [KO:K03209] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 164820 NETWORK nt06505 WNT signaling DISEASE H00506 Osteogenesis imperfecta H01593 Osteoporosis REFERENCE PMID:35052478 AUTHORS Martinez-Gil N, Ugartondo N, Grinberg D, Balcells S TITLE Wnt Pathway Extracellular Components and Their Essential Roles in Bone Homeostasis. JOURNAL Genes (Basel) 13:138 (2022) DOI:10.3390/genes13010138 REFERENCE PMID:32328030 AUTHORS Huybrechts Y, Mortier G, Boudin E, Van Hul W TITLE WNT Signaling and Bone: Lessons From Skeletal Dysplasias and Disorders. JOURNAL Front Endocrinol (Lausanne) 11:165 (2020) DOI:10.3389/fendo.2020.00165 REFERENCE PMID:32980496 AUTHORS Etich J, Rehberg M, Eckes B, Sengle G, Semler O, Zaucke F TITLE Signaling pathways affected by mutations causing osteogenesis imperfecta. JOURNAL Cell Signal 76:109789 (2020) DOI:10.1016/j.cellsig.2020.109789 REFERENCE PMID:31220415 AUTHORS Besio R, Chow CW, Tonelli F, Marini JC, Forlino A TITLE Bone biology: insights from osteogenesis imperfecta and related rare fragility syndromes. JOURNAL FEBS J 286:3033-3056 (2019) DOI:10.1111/febs.14963 /// ENTRY 7473v1 Variant NAME WNT3 mutation GENE WNT3 Wnt family member 3 [KO:K00312] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 165330 NETWORK nt06505 WNT signaling DISEASE H00636 Tetra-amelia syndrome REFERENCE PMID:19619488 AUTHORS MacDonald BT, Tamai K, He X TITLE Wnt/beta-catenin signaling: components, mechanisms, and diseases. JOURNAL Dev Cell 17:9-26 (2009) DOI:10.1016/j.devcel.2009.06.016 /// ENTRY 7474v1 Variant NAME WNT5A mutation GENE WNT5A Wnt family member 5A [KO:K00444] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 164975 NETWORK nt06505 WNT signaling DISEASE H00485 Robinow syndrome REFERENCE PMID:33919228 AUTHORS Guasto A, Cormier-Daire V TITLE Signaling Pathways in Bone Development and Their Related Skeletal Dysplasia. JOURNAL Int J Mol Sci 22:4321 (2021) DOI:10.3390/ijms22094321 /// ENTRY 7476v1 Variant NAME WNT7A mutation GENE WNT7A Wnt family member 7A [KO:K00572] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 601570 NETWORK nt06505 WNT signaling DISEASE H00846 Fuhrmann syndrome H00847 Al-Awadi/Raas-Rothschild syndrome REFERENCE PMID:35052478 AUTHORS Martinez-Gil N, Ugartondo N, Grinberg D, Balcells S TITLE Wnt Pathway Extracellular Components and Their Essential Roles in Bone Homeostasis. JOURNAL Genes (Basel) 13:138 (2022) DOI:10.3390/genes13010138 /// ENTRY 7480v1 Variant NAME WNT10B mutation GENE WNT10B Wnt family member 10B [KO:K01357] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 601906 NETWORK nt06505 WNT signaling DISEASE H00471 Split-hand/foot malformation H00625 Tooth agenesis REFERENCE PMID:29969831 AUTHORS Yu M, Wong SW, Han D, Cai T TITLE Genetic analysis: Wnt and other pathways in nonsyndromic tooth agenesis. JOURNAL Oral Dis 25:646-651 (2019) DOI:10.1111/odi.12931 REFERENCE PMID:35052478 AUTHORS Martinez-Gil N, Ugartondo N, Grinberg D, Balcells S TITLE Wnt Pathway Extracellular Components and Their Essential Roles in Bone Homeostasis. JOURNAL Genes (Basel) 13:138 (2022) DOI:10.3390/genes13010138 /// ENTRY 7486v1 Variant NAME WRN mutation GENE WRN WRN RecQ like helicase [KO:K10900] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 604611 NETWORK nt06506 Double-strand break repair DISEASE H00296 Defects in RecQ helicases H01733 Werner syndrome REFERENCE PMID:9012406 AUTHORS Yu CE, Oshima J, Wijsman EM, Nakura J, Miki T, Piussan C, Matthews S, Fu YH, Mulligan J, Martin GM, Schellenberg GD TITLE Mutations in the consensus helicase domains of the Werner syndrome gene. Werner's Syndrome Collaborative Group. JOURNAL Am J Hum Genet 60:330-41 (1997) /// ENTRY 7490v1 Variant NAME EWSR1-WT1 fusion GENE WT1 WT1 transcription factor [KO:K09234] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION translocation t(11;22)(p13;q12) COSF: 187 192 189 NETWORK nt06240 Transcription DISEASE H01985 Desmoplastic small round cell tumor REFERENCE PMID:12951587 AUTHORS Helman LJ, Meltzer P. TITLE Mechanisms of sarcoma development. JOURNAL Nat Rev Cancer 3:685-94 (2003) DOI:10.1038/nrc1168 REFERENCE PMID:19734027 AUTHORS Thway K TITLE Pathology of soft tissue sarcomas. JOURNAL Clin Oncol (R Coll Radiol) 21:695-705 (2009) DOI:10.1016/j.clon.2009.07.016 /// ENTRY 7498v1 Variant NAME XDH deficiency GENE XDH xanthine dehydrogenase [KO:K00106] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 607633 NETWORK nt06025 Molybdenum cofactor biosynthesis DISEASE H00192 Xanthinuria REFERENCE PMID:9153281 AUTHORS Ichida K, Amaya Y, Kamatani N, Nishino T, Hosoya T, Sakai O TITLE Identification of two mutations in human xanthine dehydrogenase gene responsible for classical type I xanthinuria. JOURNAL J Clin Invest 99:2391-7 (1997) DOI:10.1172/JCI119421 /// ENTRY 7507v1 Variant NAME XPA mutation GENE XPA XPA, DNA damage recognition and repair factor [KO:K10847] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 611153 NETWORK nt06502 Nucleotide excision repair DISEASE H01428 Xeroderma pigmentosum REFERENCE PMID:2234061 AUTHORS Tanaka K, Miura N, Satokata I, Miyamoto I, Yoshida MC, Satoh Y, Kondo S, Yasui A, Okayama H, Okada Y TITLE Analysis of a human DNA excision repair gene involved in group A xeroderma pigmentosum and containing a zinc-finger domain. JOURNAL Nature 348:73-6 (1990) DOI:10.1038/348073a0 /// ENTRY 7508v1 Variant NAME XPC mutation GENE XPC XPC complex subunit, DNA damage recognition and repair factor [KO:K10838] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 613208 NETWORK nt06502 Nucleotide excision repair DISEASE H01428 Xeroderma pigmentosum REFERENCE PMID:8298653 AUTHORS Li L, Bales ES, Peterson CA, Legerski RJ TITLE Characterization of molecular defects in xeroderma pigmentosum group C. JOURNAL Nat Genet 5:413-7 (1993) DOI:10.1038/ng1293-413 /// ENTRY 7515v1 Variant NAME XRCC1 mutation GENE XRCC1 X-ray repair cross complementing 1 [KO:K10803] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 194360 NETWORK nt06504 Base excision repair DISEASE H01891 Autosomal recessive spinocerebellar ataxias REFERENCE PMID:28002403 AUTHORS Hoch NC, Hanzlikova H, Rulten SL, Tetreault M, Komulainen E, Ju L, Hornyak P, Zeng Z, Gittens W, Rey SA, Staras K, Mancini GM, McKinnon PJ, Wang ZQ, Wagner JD, Yoon G, Caldecott KW TITLE XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia. JOURNAL Nature 541:87-91 (2017) DOI:10.1038/nature20790 /// ENTRY 7516v1 Variant NAME XRCC2 mutation GENE XRCC2 X-ray repair cross complementing 2 [KO:K10879] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 600375 NETWORK nt06506 Double-strand break repair nt06508 Interstrand crosslink repair DISEASE H00238 Fanconi anemia H00627 Premature ovarian failure REFERENCE PMID:7711722 AUTHORS Thacker J, Tambini CE, Simpson PJ, Tsui LC, Scherer SW TITLE Localization to chromosome 7q36.1 of the human XRCC2 gene, determining sensitivity to DNA-damaging agents. JOURNAL Hum Mol Genet 4:113-20 (1995) DOI:10.1093/hmg/4.1.113 REFERENCE PMID:30489636 AUTHORS Zhang YX, Li HY, He WB, Tu C, Du J, Li W, Lu GX, Lin G, Yang Y, Tan YQ TITLE XRCC2 mutation causes premature ovarian insufficiency as well as non-obstructive azoospermia in humans. JOURNAL Clin Genet 95:442-443 (2019) DOI:10.1111/cge.13475 /// ENTRY 7517v1 Variant NAME XRCC3 mutaton GENE XRCC3 X-ray repair cross complementing 3 [KO:K10880] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 600675 NETWORK nt06506 Double-strand break repair DISEASE H00031 Breast cancer H00038 Melanoma REFERENCE PMID:11059748 AUTHORS Winsey SL, Haldar NA, Marsh HP, Bunce M, Marshall SE, Harris AL, Wojnarowska F, Welsh KI TITLE A variant within the DNA repair gene XRCC3 is associated with the development of melanoma skin cancer. JOURNAL Cancer Res 60:5612-6 (2000) REFERENCE PMID:12023982 AUTHORS Kuschel B, Auranen A, McBride S, Novik KL, Antoniou A, Lipscombe JM, Day NE, Easton DF, Ponder BA, Pharoah PD, Dunning A TITLE Variants in DNA double-strand break repair genes and breast cancer susceptibility. JOURNAL Hum Mol Genet 11:1399-407 (2002) DOI:10.1093/hmg/11.12.1399 /// ENTRY 7518v1 Variant NAME XRCC4 mutation GENE XRCC4 X-ray repair cross complementing 4 [KO:K10886] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 194363 NETWORK nt06506 Double-strand break repair DISEASE H02578 Short stature, microcephaly, and endocrine dysfunction REFERENCE PMID:25728776 AUTHORS Murray JE, van der Burg M, IJspeert H, Carroll P, Wu Q, Ochi T, Leitch A, Miller ES, Kysela B, Jawad A, Bottani A, Brancati F, Cappa M, Cormier-Daire V, Deshpande C, Faqeih EA, Graham GE, Ranza E, Blundell TL, Jackson AP, Stewart GS, Bicknell LS TITLE Mutations in the NHEJ component XRCC4 cause primordial dwarfism. JOURNAL Am J Hum Genet 96:412-24 (2015) DOI:10.1016/j.ajhg.2015.01.013 /// ENTRY 7528v1 Variant NAME YY1 mutation GENE YY1 YY1 transcription factor [KO:K09201] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 600013 NETWORK nt06523 Epigenetic regulation by Polycomb complexes DISEASE H02490 Gabriele-de Vries syndrome REFERENCE PMID:28575647 AUTHORS Gabriele M, Vulto-van Silfhout AT, Germain PL, Vitriolo A, Kumar R, Douglas E, Haan E, Kosaki K, Takenouchi T, Rauch A, Steindl K, Frengen E, Misceo D, Pedurupillay CRJ, Stromme P, Rosenfeld JA, Shao Y, Craigen WJ, Schaaf CP, Rodriguez-Buritica D, Farach L, Friedman J, Thulin P, McLean SD, Nugent KM, Morton J, Nicholl J, Andrieux J, Stray-Pedersen A, Chambon P, Patrier S, Lynch SA, Kjaergaard S, Torring PM, Brasch-Andersen C, Ronan A, van Haeringen A, Anderson PJ, Powis Z, Brunner HG, Pfundt R, Schuurs-Hoeijmakers JHM, van Bon BWM, Lelieveld S, Gilissen C, Nillesen WM, Vissers LELM, Gecz J, Koolen DA, Testa G, de Vries BBA TITLE YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction. JOURNAL Am J Hum Genet 100:907-925 (2017) DOI:10.1016/j.ajhg.2017.05.006 /// ENTRY 7535v1 Variant NAME ZAP70 mutation GENE ZAP70 zeta chain of T cell receptor associated protein kinase 70 [KO:K07360] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 176947 NETWORK nt06528 Calcium signaling DISEASE H00093 Combined immunodeficiency H02540 Infantile-onset multisystem autoimmune disease REFERENCE PMID:35091087 AUTHORS Latour S TITLE Inherited immunodeficiencies associated with proximal and distal defects in T cell receptor signaling and co-signaling. JOURNAL Biomed J 45:321-333 (2022) DOI:10.1016/j.bj.2022.01.013 /// ENTRY 7703v1 Variant NAME PCGF2 mutation GENE PCGF2 polycomb group ring finger 2 [KO:K11460] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 600346 NETWORK nt06523 Epigenetic regulation by Polycomb complexes DISEASE H02611 Turnpenny-Fry syndrome REFERENCE PMID:30343942 AUTHORS Turnpenny PD, Wright MJ, Sloman M, Caswell R, van Essen AJ, Gerkes E, Pfundt R, White SM, Shaul-Lotan N, Carpenter L, Schaefer GB, Fryer A, Innes AM, Forbes KP, Chung WK, McLaughlin H, Henderson LB, Roberts AE, Heath KE, Paumard-Hernandez B, Gener B, Fawcett KA, Gjergja-Juraski R, Pilz DT, Fry AE TITLE Missense Mutations of the Pro65 Residue of PCGF2 Cause a Recognizable Syndrome Associated with Craniofacial, Neurological, Cardiovascular, and Skeletal Features. JOURNAL Am J Hum Genet 103:786-793 (2018) DOI:10.1016/j.ajhg.2018.09.012 /// ENTRY 7704v1 Variant NAME PLZF-RARA fusion GENE ZBTB16 zinc finger and BTB domain containing 16 [KO:K10055] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION translocation t(11;17)(q23;q21) NETWORK nt06240 Transcription nt06275 Acute myeloid leukemia DISEASE H00003 Acute myeloid leukemia REFERENCE PMID:12032780 AUTHORS Scandura JM, Boccuni P, Cammenga J, Nimer SD TITLE Transcription factor fusions in acute leukemia: variations on a theme. JOURNAL Oncogene 21:3422-44 (2002) DOI:10.1038/sj.onc.1205315 REFERENCE PMID:16236521 AUTHORS Steffen B, Muller-Tidow C, Schwable J, Berdel WE, Serve H. TITLE The molecular pathogenesis of acute myeloid leukemia. JOURNAL Crit Rev Oncol Hematol 56:195-221 (2005) DOI:10.1016/j.critrevonc.2004.10.012 REFERENCE PMID:10942370 AUTHORS Sainty D, Liso V, Cantu-Rajnoldi A, Head D, Mozziconacci MJ, Arnoulet C, Benattar L, Fenu S, Mancini M, Duchayne E, Mahon FX, Gutierrez N, Birg F, Biondi A, Grimwade D, Lafage-Pochitaloff M, Hagemeijer A, Flandrin G TITLE A new morphologic classification system for acute promyelocytic leukemia distinguishes cases with underlying PLZF/RARA gene rearrangements. JOURNAL Blood 96:1287-96 (2000) /// ENTRY 773v1 Variant NAME CACNA1A mutation GENE CACNA1A calcium voltage-gated channel subunit alpha1 A [KO:K04344] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 601011 NETWORK nt06462 Spinocerebellar ataxia nt06466 Pathways of neurodegeneration nt06528 Calcium signaling DISEASE H00063 Spinocerebellar ataxia (SCA) H00606 Early infantile epileptic encephalopathy H00749 Episodic ataxias H00775 Hemiplegic migraine REFERENCE PMID:10753886 AUTHORS Toru S, Murakoshi T, Ishikawa K, Saegusa H, Fujigasaki H, Uchihara T, Nagayama S, Osanai M, Mizusawa H, Tanabe T TITLE Spinocerebellar ataxia type 6 mutation alters P-type calcium channel function. JOURNAL J Biol Chem 275:10893-8 (2000) DOI:10.1074/jbc.275.15.10893 REFERENCE PMID:8988170 AUTHORS Zhuchenko O, Bailey J, Bonnen P, Ashizawa T, Stockton DW, Amos C, Dobyns WB, Subramony SH, Zoghbi HY, Lee CC TITLE Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. JOURNAL Nat Genet 15:62-9 (1997) DOI:10.1038/ng0197-62 REFERENCE PMID:33985586 AUTHORS Kessi M, Chen B, Peng J, Yan F, Yang L, Yin F TITLE Calcium channelopathies and intellectual disability: a systematic review. JOURNAL Orphanet J Rare Dis 16:219 (2021) DOI:10.1186/s13023-021-01850-0 /// ENTRY 775v1 Variant NAME CACNA1C mutation GENE CACNA1C calcium voltage-gated channel subunit alpha1 C [KO:K04850] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 114205 NETWORK nt06528 Calcium signaling DISEASE H00720 Long QT syndrome H00728 Brugada syndrome REFERENCE PMID:34709746 AUTHORS Chen L, He Y, Wang X, Ge J, Li H TITLE Ventricular voltage-gated ion channels: Detection, characteristics, mechanisms, and drug safety evaluation. JOURNAL Clin Transl Med 11:e530 (2021) DOI:10.1002/ctm2.530 /// ENTRY 776v1 Variant NAME CACNA1D mutation GENE CACNA1D calcium voltage-gated channel subunit alpha1 D [KO:K04851] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 114206 NETWORK nt06316 Renin-angiotensin-aldosterone signaling nt06528 Calcium signaling DISEASE H01603 Primary aldosteronism H02636 Sinoatrial node dysfunction and deafness REFERENCE PMID:23913001 AUTHORS Scholl UI, Goh G, Stolting G, de Oliveira RC, Choi M, Overton JD, Fonseca AL, Korah R, Starker LF, Kunstman JW, Prasad ML, Hartung EA, Mauras N, Benson MR, Brady T, Shapiro JR, Loring E, Nelson-Williams C, Libutti SK, Mane S, Hellman P, Westin G, Akerstrom G, Bjorklund P, Carling T, Fahlke C, Hidalgo P, Lifton RP TITLE Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism. JOURNAL Nat Genet 45:1050-4 (2013) DOI:10.1038/ng.2695 REFERENCE PMID:27485459 AUTHORS Dutta RK, Soderkvist P, Gimm O TITLE Genetics of primary hyperaldosteronism. JOURNAL Endocr Relat Cancer 23:R437-54 (2016) DOI:10.1530/ERC-16-0055 REFERENCE PMID:24817817 AUTHORS Al-Salameh A, Cohen R, Desailloud R TITLE Overview of the genetic determinants of primary aldosteronism. JOURNAL Appl Clin Genet 7:67-79 (2014) DOI:10.2147/TACG.S45620 REFERENCE PMID:34709746 AUTHORS Chen L, He Y, Wang X, Ge J, Li H TITLE Ventricular voltage-gated ion channels: Detection, characteristics, mechanisms, and drug safety evaluation. JOURNAL Clin Transl Med 11:e530 (2021) DOI:10.1002/ctm2.530 /// ENTRY 777v1 Variant NAME CACNA1E mutation GENE CACNA1E calcium voltage-gated channel subunit alpha1 E [KO:K04852] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 601013 NETWORK nt06528 Calcium signaling DISEASE H00606 Early infantile epileptic encephalopathy REFERENCE PMID:31064215 AUTHORS Carvill GL TITLE Calcium Channel Dysfunction in Epilepsy: Gain of CACNA1E. JOURNAL Epilepsy Curr 19:199-201 (2019) DOI:10.1177/1535759719845324 /// ENTRY 778v1 Variant NAME CACNA1F mutation GENE CACNA1F calcium voltage-gated channel subunit alpha1 F [KO:K04853] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 300110 NETWORK nt06528 Calcium signaling DISEASE H00481 Cone-rod dystrophy and cone dystrophy H00690 Aland Island eye disease H00787 Congenital stationary night blindness REFERENCE PMID:33985586 AUTHORS Kessi M, Chen B, Peng J, Yan F, Yang L, Yin F TITLE Calcium channelopathies and intellectual disability: a systematic review. JOURNAL Orphanet J Rare Dis 16:219 (2021) DOI:10.1186/s13023-021-01850-0 /// ENTRY 779v1 Variant NAME CACNA1S mutation GENE CACNA1S calcium voltage-gated channel subunit alpha1 S [KO:K04857] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 114208 NETWORK nt06528 Calcium signaling DISEASE H00215 Periodic paralysis REFERENCE PMID:34208776 AUTHORS Maggi L, Bonanno S, Altamura C, Desaphy JF TITLE Ion Channel Gene Mutations Causing Skeletal Muscle Disorders: Pathomechanisms and Opportunities for Therapy. JOURNAL Cells 10:cells10061521 (2021) DOI:10.3390/cells10061521 REFERENCE PMID:23187123 AUTHORS Wu F, Mi W, Hernandez-Ochoa EO, Burns DK, Fu Y, Gray HF, Struyk AF, Schneider MF, Cannon SC TITLE A calcium channel mutant mouse model of hypokalemic periodic paralysis. JOURNAL J Clin Invest 122:4580-91 (2012) DOI:10.1172/JCI66091 /// ENTRY 7841v1 Variant NAME MOGS deficiency GENE MOGS mannosyl-oligosaccharide glucosidase [KO:K01228] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 601336 NETWORK nt06015 N-Glycan biosynthesis DISEASE H00119 Congenital disorders of glycosylation type II REFERENCE PMID:24716661 AUTHORS Sadat MA, Moir S, Chun TW, Lusso P, Kaplan G, Wolfe L, Memoli MJ, He M, Vega H, Kim LJY, Huang Y, Hussein N, Nievas E, Mitchell R, Garofalo M, Louie A, Ireland DC, Grunes C, Cimbro R, Patel V, Holzapfel G, Salahuddin D, Bristol T, Adams D, Marciano BE, Hegde M, Li Y, Calvo KR, Stoddard J, Justement JS, Jacques J, Priel DAL, Murray D, Sun P, Kuhns DB, Boerkoel CF, Chiorini JA, Di Pasquale G, Verthelyi D, Rosenzweig SD TITLE Glycosylation, hypogammaglobulinemia, and resistance to viral infections. JOURNAL N Engl J Med 370:1615-1625 (2014) DOI:10.1056/NEJMoa1302846 /// ENTRY 7846v1 Variant NAME TUBA1A mutation GENE TUBA1A tubulin alpha 1a [KO:K07374] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 602529 NETWORK nt06515 Regulation of kinetochore-microtubule interactions DISEASE H00268 Lissencephaly REFERENCE PMID:17218254 AUTHORS Keays DA, Tian G, Poirier K, Huang GJ, Siebold C, Cleak J, Oliver PL, Fray M, Harvey RJ, Molnar Z, Pinon MC, Dear N, Valdar W, Brown SD, Davies KE, Rawlins JN, Cowan NJ, Nolan P, Chelly J, Flint J TITLE Mutations in alpha-tubulin cause abnormal neuronal migration in mice and lissencephaly in humans. JOURNAL Cell 128:45-57 (2007) DOI:10.1016/j.cell.2006.12.017 /// ENTRY 7849v1 Variant NAME PAX8-PPARG fusion GENE PAX8 paired box 8 [KO:K09293] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION translocation t(2,3)(q13;p25) COSF: 1216 1220 1224 NETWORK nt06240 Transcription nt06274 Thyroid cancer DISEASE H00032 Thyroid cancer REFERENCE PMID:19233641 AUTHORS Prensner JR, Chinnaiyan AM TITLE Oncogenic gene fusions in epithelial carcinomas. JOURNAL Curr Opin Genet Dev 19:82-91 (2009) DOI:10.1016/j.gde.2008.11.008 REFERENCE PMID:19406209 AUTHORS Brenner JC, Chinnaiyan AM TITLE Translocations in epithelial cancers. JOURNAL Biochim Biophys Acta 1796:201-15 (2009) DOI:10.1016/j.bbcan.2009.04.005 /// ENTRY 7849v2 Variant NAME PAX8 mutation GENE PAX8 paired box 8 [KO:K09293] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 167415 NETWORK nt06322 TRH-TSH-TH signaling DISEASE H00250 Congenital nongoitrous hypothyroidism (CHNG) REFERENCE PMID:26362610 AUTHORS Fu C, Chen R, Zhang S, Luo S, Wang J, Chen Y, Zheng H, Su J, Hu X, Fan X, Luo J, Yi S, Lai Y, Li C, Xie B, Shen Y, Gu X, Chen S TITLE PAX8 pathogenic variants in Chinese patients with congenital hypothyroidism. JOURNAL Clin Chim Acta 450:322-6 (2015) DOI:10.1016/j.cca.2015.09.008 REFERENCE PMID:11502839 AUTHORS Congdon T, Nguyen LQ, Nogueira CR, Habiby RL, Medeiros-Neto G, Kopp P TITLE A novel mutation (Q40P) in PAX8 associated with congenital hypothyroidism and thyroid hypoplasia: evidence for phenotypic variability in mother and child. JOURNAL J Clin Endocrinol Metab 86:3962-7 (2001) DOI:10.1210/jcem.86.8.7765 REFERENCE PMID:30324792 AUTHORS Peters C, van Trotsenburg ASP, Schoenmakers N TITLE DIAGNOSIS OF ENDOCRINE DISEASE: Congenital hypothyroidism: update and perspectives JOURNAL Eur J Endocrinol 179:R297-R317 (2018) DOI:10.1530/EJE-18-0383 REFERENCE PMID:15611820 AUTHORS Vono-Toniolo J, Kopp P TITLE Thyroglobulin gene mutations and other genetic defects associated with congenital hypothyroidism. JOURNAL Arq Bras Endocrinol Metabol 48:70-82 (2004) DOI:10.1590/S0004-27302004000100009 /// ENTRY 7874v1 Variant NAME USP7 mutation GENE USP7 ubiquitin specific peptidase 7 [KO:K11838] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 602519 NETWORK nt06523 Epigenetic regulation by Polycomb complexes DISEASE H02528 Hao-Fountain syndrome REFERENCE PMID:30679821 AUTHORS Fountain MD, Oleson DS, Rech ME, Segebrecht L, Hunter JV, McCarthy JM, Lupo PJ, Holtgrewe M, Moran R, Rosenfeld JA, Isidor B, Le Caignec C, Saenz MS, Pedersen RC, Morgan TM, Pfotenhauer JP, Xia F, Bi W, Kang SL, Patel A, Krantz ID, Raible SE, Smith W, Cristian I, Torti E, Juusola J, Millan F, Wentzensen IM, Person RE, Kury S, Bezieau S, Uguen K, Ferec C, Munnich A, van Haelst M, Lichtenbelt KD, van Gassen K, Hagelstrom T, Chawla A, Perry DL, Taft RJ, Jones M, Masser-Frye D, Dyment D, Venkateswaran S, Li C, Escobar LF, Horn D, Spillmann RC, Pena L, Wierzba J, Strom TM, Parenti I, Kaiser FJ, Ehmke N, Schaaf CP TITLE Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies. JOURNAL Genet Med 21:1797-1807 (2019) DOI:10.1038/s41436-019-0433-1 /// ENTRY 7879v1 Variant NAME RAB7A mutation GENE RAB7A RAB7A, member RAS oncogene family [KO:K07897] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 602298 NETWORK nt06532 Autophagy DISEASE H00264 Charcot-Marie-Tooth disease REFERENCE PMID:34483837 AUTHORS Markworth R, Bahr M, Burk K TITLE Held Up in Traffic-Defects in the Trafficking Machinery in Charcot-Marie-Tooth Disease. JOURNAL Front Mol Neurosci 14:695294 (2021) DOI:10.3389/fnmol.2021.695294 /// ENTRY 788v1 Variant NAME SLC25A20 mutation GENE SLC25A20 solute carrier family 25 member 20 [KO:K15109] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 613698 NETWORK nt06020 beta-Oxidation in mitochondria DISEASE H01983 Carnitine-acylcarnitine translocase deficiency REFERENCE PMID:10384385 AUTHORS al Aqeel AI, Rashed MS, Wanders RJ TITLE Carnitine-acylcarnitine translocase deficiency is a treatable disease. JOURNAL J Inherit Metab Dis 22:271-5 (1999) DOI:10.1023/A:1005546408659 /// ENTRY 78989v1 Variant NAME COLEC11 mutation GENE COLEC11 collectin subfamily member 11 [KO:K10066] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 612502 NETWORK nt06513 Complement cascade DISEASE H01887 3MC syndrome REFERENCE PMID:21258343 AUTHORS Rooryck C, Diaz-Font A, Osborn DP, Chabchoub E, Hernandez-Hernandez V, Shamseldin H, Kenny J, Waters A, Jenkins D, Kaissi AA, Leal GF, Dallapiccola B, Carnevale F, Bitner-Glindzicz M, Lees M, Hennekam R, Stanier P, Burns AJ, Peeters H, Alkuraya FS, Beales PL TITLE Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome. JOURNAL Nat Genet 43:197-203 (2011) DOI:10.1038/ng.757 /// ENTRY 79001v1 Variant NAME VKORC1 polymorphism for low warfarin dose phenotype GENE VKORC1 vitamin K epoxide reductase complex subunit 1 [KO:K05357] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION SNP –1639G>A dbSNP: rs9923231 REFERENCE PMID:19940803 AUTHORS Owen RP, Gong L, Sagreiya H, Klein TE, Altman RB TITLE VKORC1 pharmacogenomics summary. JOURNAL Pharmacogenet Genomics 20:642-4 (2010) DOI:10.1097/FPC.0b013e32833433b6 /// ENTRY 79053v1 Variant NAME ALG8 deficiency GENE ALG8 ALG8 alpha-1,3-glucosyltransferase [KO:K03849] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 608103 NETWORK nt06015 N-Glycan biosynthesis DISEASE H00118 Congenital disorders of glycosylation type I REFERENCE PMID:12480927 AUTHORS Chantret I, Dancourt J, Dupre T, Delenda C, Bucher S, Vuillaumier-Barrot S, Ogier de Baulny H, Peletan C, Danos O, Seta N, Durand G, Oriol R, Codogno P, Moore SE TITLE A deficiency in dolichyl-P-glucose:Glc1Man9GlcNAc2-PP-dolichyl alpha3-glucosyltransferase defines a new subtype of congenital disorders of glycosylation. JOURNAL J Biol Chem 278:9962-71 (2003) DOI:10.1074/jbc.M211950200 /// ENTRY 79087v1 Variant NAME ALG12 deficiency GENE ALG12 ALG12 alpha-1,6-mannosyltransferase [KO:K03847] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 607144 NETWORK nt06015 N-Glycan biosynthesis DISEASE H00118 Congenital disorders of glycosylation type I REFERENCE PMID:11983712 AUTHORS Chantret I, Dupre T, Delenda C, Bucher S, Dancourt J, Barnier A, Charollais A, Heron D, Bader-Meunier B, Danos O, Seta N, Durand G, Oriol R, Codogno P, Moore SE TITLE Congenital disorders of glycosylation type Ig is defined by a deficiency in dolichyl-P-mannose:Man7GlcNAc2-PP-dolichyl mannosyltransferase. JOURNAL J Biol Chem 277:25815-22 (2002) DOI:10.1074/jbc.M203285200 /// ENTRY 79133v1 Variant NAME NDUFAF5 mutation GENE NDUFAF5 NADH:ubiquinone oxidoreductase complex assembly factor 5 [KO:K18162] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 612360 NETWORK nt06529 Thermogenesis DISEASE H00473 Mitochondrial complex I deficiency REFERENCE PMID:18940309 AUTHORS Sugiana C, Pagliarini DJ, McKenzie M, Kirby DM, Salemi R, Abu-Amero KK, Dahl HH, Hutchison WM, Vascotto KA, Smith SM, Newbold RF, Christodoulou J, Calvo S, Mootha VK, Ryan MT, Thorburn DR TITLE Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease. JOURNAL Am J Hum Genet 83:468-78 (2008) DOI:10.1016/j.ajhg.2008.09.009 /// ENTRY 79147v1 Variant NAME FKRP deficiency GENE FKRP fukutin related protein [KO:K19873] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 606596 NETWORK nt06013 O-Glycan biosynthesis DISEASE H02307 Muscular dystrophy-dystroglycanopathy REFERENCE PMID:15121789 AUTHORS Beltran-Valero de Bernabe D, Voit T, Longman C, Steinbrecher A, Straub V, Yuva Y, Herrmann R, Sperner J, Korenke C, Diesen C, Dobyns WB, Brunner HG, van Bokhoven H, Brockington M, Muntoni F TITLE Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome. JOURNAL J Med Genet 41:e61 (2004) DOI:10.1136/jmg.2003.013870 /// ENTRY 7957v1 Variant NAME EPM2A mutation GENE EPM2A EPM2A glucan phosphatase, laforin [KO:K14165] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 607566 NETWORK nt06532 Autophagy DISEASE H00810 Progressive myoclonic epilepsy REFERENCE PMID:30143794 AUTHORS Nitschke F, Ahonen SJ, Nitschke S, Mitra S, Minassian BA TITLE Lafora disease - from pathogenesis to treatment strategies. JOURNAL Nat Rev Neurol 14:606-617 (2018) DOI:10.1038/s41582-018-0057-0 REFERENCE PMID:32087199 AUTHORS Zatyka M, Sarkar S, Barrett T TITLE Autophagy in Rare (NonLysosomal) Neurodegenerative Diseases. JOURNAL J Mol Biol 432:2735-2753 (2020) DOI:10.1016/j.jmb.2020.02.012 /// ENTRY 79621v1 Variant NAME RNASEH2B mutation GENE RNASEH2B ribonuclease H2 subunit B [KO:K10744] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 610326 NETWORK nt06509 DNA replication nt06520 CGAS-STING signaling DISEASE H00290 Aicardi-Goutieres syndrome REFERENCE PMID:16845400 AUTHORS Crow YJ, Leitch A, Hayward BE, Garner A, Parmar R, Griffith E, Ali M, Semple C, Aicardi J, Babul-Hirji R, Baumann C, Baxter P, Bertini E, Chandler KE, Chitayat D, Cau D, Dery C, Fazzi E, Goizet C, King MD, Klepper J, Lacombe D, Lanzi G, Lyall H, Martinez-Frias ML, Mathieu M, McKeown C, Monier A, Oade Y, Quarrell OW, Rittey CD, Rogers RC, Sanchis A, Stephenson JB, Tacke U, Till M, Tolmie JL, Tomlin P, Voit T, Weschke B, Woods CG, Lebon P, Bonthron DT, Ponting CP, Jackson AP TITLE Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutieres syndrome and mimic congenital viral brain infection. JOURNAL Nat Genet 38:910-6 (2006) DOI:10.1038/ng1842 /// ENTRY 79644v1 Variant NAME SRD5A3 deficiency GENE SRD5A3 steroid 5 alpha-reductase 3 [KO:K12345] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 611715 NETWORK nt06015 N-Glycan biosynthesis DISEASE H00118 Congenital disorders of glycosylation type I REFERENCE PMID:20637498 AUTHORS Cantagrel V, Lefeber DJ, Ng BG, Guan Z, Silhavy JL, Bielas SL, Lehle L, Hombauer H, Adamowicz M, Swiezewska E, De Brouwer AP, Blumel P, Sykut-Cegielska J, Houliston S, Swistun D, Ali BR, Dobyns WB, Babovic-Vuksanovic D, van Bokhoven H, Wevers RA, Raetz CR, Freeze HH, Morava E, Al-Gazali L, Gleeson JG TITLE SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder. JOURNAL Cell 142:203-17 (2010) DOI:10.1016/j.cell.2010.06.001 /// ENTRY 79648v1 Variant NAME MCPH1 mutation GENE MCPH1 microcephalin 1 [KO:K19403] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 607117 NETWORK nt06512 Chromosome cohesion and segregation DISEASE H00269 Primary microcephaly REFERENCE PMID:20101680 AUTHORS Farooq M, Baig S, Tommerup N, Kjaer KW TITLE Craniosynostosis-microcephaly with chromosomal breakage and other abnormalities is caused by a truncating MCPH1 mutation and is allelic to premature chromosomal condensation syndrome and primary autosomal recessive microcephaly type 1. JOURNAL Am J Med Genet A 152A:495-7 (2010) DOI:10.1002/ajmg.a.33234 REFERENCE PMID:16434882 AUTHORS Trimborn M, Schindler D, Neitzel H, Hirano T TITLE Misregulated chromosome condensation in MCPH1 primary microcephaly is mediated by condensin II. JOURNAL Cell Cycle 5:322-6 (2006) DOI:10.4161/cc.5.3.2412 /// ENTRY 79659v1 Variant NAME DYNC2H1 mutation GENE DYNC2H1 dynein cytoplasmic 2 heavy chain 1 [KO:K10414] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 603297 NETWORK nt06515 Regulation of kinetochore-microtubule interactions DISEASE H02157 Short-rib thoracic dysplasia REFERENCE PMID:19442771 AUTHORS Dagoneau N, Goulet M, Genevieve D, Sznajer Y, Martinovic J, Smithson S, Huber C, Baujat G, Flori E, Tecco L, Cavalcanti D, Delezoide AL, Serre V, Le Merrer M, Munnich A, Cormier-Daire V TITLE DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III. JOURNAL Am J Hum Genet 84:706-11 (2009) DOI:10.1016/j.ajhg.2009.04.016 /// ENTRY 79728v1 Variant NAME PALB2 mutation GENE PALB2 partner and localizer of BRCA2 [KO:K10897] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 610355 NETWORK nt06506 Double-strand break repair nt06508 Interstrand crosslink repair DISEASE H00019 Pancreatic cancer H00031 Breast cancer H00238 Fanconi anemia REFERENCE PMID:17200668 AUTHORS Rahman N, Seal S, Thompson D, Kelly P, Renwick A, Elliott A, Reid S, Spanova K, Barfoot R, Chagtai T, Jayatilake H, McGuffog L, Hanks S, Evans DG, Eccles D, Easton DF, Stratton MR TITLE PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. JOURNAL Nat Genet 39:165-7 (2007) DOI:10.1038/ng1959 REFERENCE PMID:24141787 AUTHORS Park JY, Singh TR, Nassar N, Zhang F, Freund M, Hanenberg H, Meetei AR, Andreassen PR TITLE Breast cancer-associated missense mutants of the PALB2 WD40 domain, which directly binds RAD51C, RAD51 and BRCA2, disrupt DNA repair. JOURNAL Oncogene 33:4803-12 (2014) DOI:10.1038/onc.2013.421 /// ENTRY 79796v1 Variant NAME ALG9 deficiency GENE ALG9 ALG9 alpha-1,2-mannosyltransferase [KO:K03846] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 606941 NETWORK nt06015 N-Glycan biosynthesis DISEASE H00118 Congenital disorders of glycosylation type I REFERENCE PMID:15945070 AUTHORS Weinstein M, Schollen E, Matthijs G, Neupert C, Hennet T, Grubenmann CE, Frank CG, Aebi M, Clarke JT, Griffiths A, Seargeant L, Poplawski N TITLE CDG-IL: an infant with a novel mutation in the ALG9 gene and additional phenotypic features. JOURNAL Am J Med Genet A 136:194-7 (2005) DOI:10.1002/ajmg.a.30851 /// ENTRY 79813v1 Variant NAME EHMT1 mutation GENE EHMT1 euchromatic histone lysine methyltransferase 1 [KO:K11420] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 607001 NETWORK nt06523 Epigenetic regulation by Polycomb complexes DISEASE H00907 Kleefstra syndrome REFERENCE PMID:16826528 AUTHORS Kleefstra T, Brunner HG, Amiel J, Oudakker AR, Nillesen WM, Magee A, Genevieve D, Cormier-Daire V, van Esch H, Fryns JP, Hamel BC, Sistermans EA, de Vries BB, van Bokhoven H TITLE Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome. JOURNAL Am J Hum Genet 79:370-7 (2006) DOI:10.1086/505693 /// ENTRY 79840v1 Variant NAME XLF mutation GENE NHEJ1 non-homologous end joining factor 1 [KO:K10980] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 611290 NETWORK nt06506 Double-strand break repair DISEASE H00924 Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation REFERENCE PMID:16439204 AUTHORS Buck D, Malivert L, de Chasseval R, Barraud A, Fondaneche MC, Sanal O, Plebani A, Stephan JL, Hufnagel M, le Deist F, Fischer A, Durandy A, de Villartay JP, Revy P TITLE Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly. JOURNAL Cell 124:287-99 (2006) DOI:10.1016/j.cell.2005.12.030 /// ENTRY 79868v1 Variant NAME ALG13 deficiency GENE ALG13 ALG13 UDP-N-acetylglucosaminyltransferase subunit [KO:K07432] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 300776 NETWORK nt06015 N-Glycan biosynthesis DISEASE H00118 Congenital disorders of glycosylation type I REFERENCE PMID:25732998 AUTHORS Smith-Packard B, Myers SM, Williams MS TITLE Girls with Seizures Due to the c.320A>G Variant in ALG13 Do Not Show Abnormal Glycosylation Pattern on Standard Testing. JOURNAL JIMD Rep 22:95-8 (2015) DOI:10.1007/8904_2015_416 /// ENTRY 79947v1 Variant NAME DHDDS deficiency GENE DHDDS dehydrodolichyl diphosphate synthase subunit [KO:K11778] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 608172 NETWORK nt06015 N-Glycan biosynthesis DISEASE H00118 Congenital disorders of glycosylation type I REFERENCE PMID:27343064 AUTHORS Sabry S, Vuillaumier-Barrot S, Mintet E, Fasseu M, Valayannopoulos V, Heron D, Dorison N, Mignot C, Seta N, Chantret I, Dupre T, Moore SE TITLE A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity. JOURNAL Orphanet J Rare Dis 11:84 (2016) DOI:10.1186/s13023-016-0468-1 /// ENTRY 79991v1 Variant NAME STN1 mutation GENE STN1 STN1 subunit of CST complex [KO:K23312] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 613128 NETWORK nt06510 Telomere length regulation DISEASE H02251 Coats plus syndrome REFERENCE PMID:27432940 AUTHORS Simon AJ, Lev A, Zhang Y, Weiss B, Rylova A, Eyal E, Kol N, Barel O, Cesarkas K, Soudack M, Greenberg-Kushnir N, Rhodes M, Wiest DL, Schiby G, Barshack I, Katz S, Pras E, Poran H, Reznik-Wolf H, Ribakovsky E, Simon C, Hazou W, Sidi Y, Lahad A, Katzir H, Sagie S, Aqeilan HA, Glousker G, Amariglio N, Tzfati Y, Selig S, Rechavi G, Somech R TITLE Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defects. JOURNAL J Exp Med 213:1429-40 (2016) DOI:10.1084/jem.20151618 /// ENTRY 80055v1 Variant NAME PGAP1 deficiency GENE PGAP1 post-GPI attachment to proteins inositol deacylase 1 [KO:K05294] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 611655 NETWORK nt06018 GPI-anchor biosynthesis DISEASE H01485 Autosomal recessive mental retardation-42 REFERENCE PMID:25804403 AUTHORS Bosch DG, Boonstra FN, Kinoshita T, Jhangiani S, de Ligt J, Cremers FP, Lupski JR, Murakami Y, de Vries BB TITLE Cerebral visual impairment and intellectual disability caused by PGAP1 variants. JOURNAL Eur J Hum Genet 23:1689-93 (2015) DOI:10.1038/ejhg.2015.42 /// ENTRY 8013v1 Variant NAME EWSR1-NR4A3 fusion GENE NR4A3 nuclear receptor subfamily 4 group A member 3 [KO:K08559] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION translocation t(9;22)(q21-31;q12) COSF: 496 355 356 NETWORK nt06240 Transcription DISEASE H00053 Extraskeletal myxoid chondrosarcoma REFERENCE PMID:19734027 AUTHORS Thway K TITLE Pathology of soft tissue sarcomas. JOURNAL Clin Oncol (R Coll Radiol) 21:695-705 (2009) DOI:10.1016/j.clon.2009.07.016 /// ENTRY 80152v1 Variant NAME CENPT mutation GENE CENPT centromere protein T [KO:K11512] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 611510 NETWORK nt06515 Regulation of kinetochore-microtubule interactions DISEASE H02607 Short stature and microcephaly with genital anomalies REFERENCE PMID:29228025 AUTHORS Hung CY, Volkmar B, Baker JD, Bauer JW, Gussoni E, Hainzl S, Klausegger A, Lorenzo J, Mihalek I, Rittinger O, Tekin M, Dallman JE, Bodamer OA TITLE A defect in the inner kinetochore protein CENPT causes a new syndrome of severe growth failure. JOURNAL PLoS One 12:e0189324 (2017) DOI:10.1371/journal.pone.0189324 /// ENTRY 80169v1 Variant NAME CTC1 mutation GENE CTC1 CST telomere replication complex component 1 [KO:K23311] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 613129 NETWORK nt06510 Telomere length regulation DISEASE H02251 Coats plus syndrome REFERENCE PMID:22267198 AUTHORS Anderson BH, Kasher PR, Mayer J, Szynkiewicz M, Jenkinson EM, Bhaskar SS, Urquhart JE, Daly SB, Dickerson JE, O'Sullivan J, Leibundgut EO, Muter J, Abdel-Salem GM, Babul-Hirji R, Baxter P, Berger A, Bonafe L, Brunstom-Hernandez JE, Buckard JA, Chitayat D, Chong WK, Cordelli DM, Ferreira P, Fluss J, Forrest EH, Franzoni E, Garone C, Hammans SR, Houge G, Hughes I, Jacquemont S, Jeannet PY, Jefferson RJ, Kumar R, Kutschke G, Lundberg S, Lourenco CM, Mehta R, Naidu S, Nischal KK, Nunes L, Ounap K, Philippart M, Prabhakar P, Risen SR, Schiffmann R, Soh C, Stephenson JB, Stewart H, Stone J, Tolmie JL, van der Knaap MS, Vieira JP, Vilain CN, Wakeling EL, Wermenbol V, Whitney A, Lovell SC, Meyer S, Livingston JH, Baerlocher GM, Black GC, Rice GI, Crow YJ TITLE Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus. JOURNAL Nat Genet 44:338-42 (2012) DOI:10.1038/ng.1084 /// ENTRY 801v1 Variant NAME CALM1 mutation GENE CALM1 calmodulin 1 [KO:K02183] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 114180 NETWORK nt06528 Calcium signaling DISEASE H00720 Long QT syndrome H01019 Catecholaminergic polymorphic ventricular tachycardia REFERENCE PMID:32115705 AUTHORS Wleklinski MJ, Kannankeril PJ, Knollmann BC TITLE Molecular and tissue mechanisms of catecholaminergic polymorphic ventricular tachycardia. JOURNAL J Physiol 598:2817-2834 (2020) DOI:10.1113/JP276757 REFERENCE PMID:36496072 AUTHORS Prakash O, Gupta N, Milburn A, McCormick L, Deugi V, Fisch P, Wyles J, Thomas NL, Antonyuk S, Dart C, Helassa N TITLE Calmodulin variant E140G associated with long QT syndrome impairs CaMKIIdelta autophosphorylation and L-type calcium channel inactivation. JOURNAL J Biol Chem 299:102777 (2023) DOI:10.1016/j.jbc.2022.102777 /// ENTRY 80270v1 Variant NAME HSD3B7 deficiency GENE HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 [KO:K12408] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 607764 NETWORK nt06022 Bile acid biosynthesis DISEASE H00628 Congenital bile acid synthesis defect REFERENCE PMID:12679481 AUTHORS Cheng JB, Jacquemin E, Gerhardt M, Nazer H, Cresteil D, Heubi JE, Setchell KD, Russell DW TITLE Molecular genetics of 3beta-hydroxy-Delta5-C27-steroid oxidoreductase deficiency in 16 patients with loss of bile acid synthesis and liver disease. JOURNAL J Clin Endocrinol Metab 88:1833-41 (2003) DOI:10.1210/jc.2002-021580 /// ENTRY 80326v1 Variant NAME WNT10A mutation GENE WNT10A Wnt family member 10A [KO:K01357] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 606268 NETWORK nt06505 WNT signaling DISEASE H00625 Tooth agenesis H00646 Odontoonychodermal dysplasia H00781 Schopf-Schulz-Passarge syndrome REFERENCE PMID:29969831 AUTHORS Yu M, Wong SW, Han D, Cai T TITLE Genetic analysis: Wnt and other pathways in nonsyndromic tooth agenesis. JOURNAL Oral Dis 25:646-651 (2019) DOI:10.1111/odi.12931 REFERENCE PMID:35052478 AUTHORS Martinez-Gil N, Ugartondo N, Grinberg D, Balcells S TITLE Wnt Pathway Extracellular Components and Their Essential Roles in Bone Homeostasis. JOURNAL Genes (Basel) 13:138 (2022) DOI:10.3390/genes13010138 /// ENTRY 8036v1 Variant NAME SHOC2 mutation GENE SHOC2 SHOC2 leucine rich repeat scaffold protein [KO:K19613] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 602775 NETWORK nt06526 MAPK signaling DISEASE H02191 Noonan-like syndrome with loose anagen hair REFERENCE PMID:34103645 AUTHORS Pudewell S, Wittich C, Kazemein Jasemi NS, Bazgir F, Ahmadian MR TITLE Accessory proteins of the RAS-MAPK pathway: moving from the side line to the front line. JOURNAL Commun Biol 4:696 (2021) DOI:10.1038/s42003-021-02149-3 REFERENCE PMID:36394128 AUTHORS Tartaglia M, Aoki Y, Gelb BD TITLE The molecular genetics of RASopathies: An update on novel disease genes and new disorders. JOURNAL Am J Med Genet C Semin Med Genet 190:425-439 (2022) DOI:10.1002/ajmg.c.32012 REFERENCE PMID:34175492 AUTHORS Riller Q, Rieux-Laucat F TITLE RASopathies: From germline mutations to somatic and multigenic diseases. JOURNAL Biomed J 44:422-432 (2021) DOI:10.1016/j.bj.2021.06.004 /// ENTRY 805v1 Variant NAME CALM2 mutation GENE CALM2 calmodulin 2 [KO:K02183] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 114182 NETWORK nt06528 Calcium signaling DISEASE H00720 Long QT syndrome REFERENCE PMID:36496072 AUTHORS Prakash O, Gupta N, Milburn A, McCormick L, Deugi V, Fisch P, Wyles J, Thomas NL, Antonyuk S, Dart C, Helassa N TITLE Calmodulin variant E140G associated with long QT syndrome impairs CaMKIIdelta autophosphorylation and L-type calcium channel inactivation. JOURNAL J Biol Chem 299:102777 (2023) DOI:10.1016/j.jbc.2022.102777 /// ENTRY 80816v1 Variant NAME ASXL3 mutation GENE ASXL3 ASXL transcriptional regulator 3 [KO:K11471] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 615115 NETWORK nt06523 Epigenetic regulation by Polycomb complexes DISEASE H02382 Bainbridge-Ropers syndrome REFERENCE PMID:23383720 AUTHORS Bainbridge MN, Hu H, Muzny DM, Musante L, Lupski JR, Graham BH, Chen W, Gripp KW, Jenny K, Wienker TF, Yang Y, Sutton VR, Gibbs RA, Ropers HH TITLE De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome. JOURNAL Genome Med 5:11 (2013) DOI:10.1186/gm415 /// ENTRY 808v1 Variant NAME CALM3 mutation GENE CALM3 calmodulin 3 [KO:K02183] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 114183 NETWORK nt06528 Calcium signaling DISEASE H00720 Long QT syndrome H01019 Catecholaminergic polymorphic ventricular tachycardia REFERENCE PMID:32115705 AUTHORS Wleklinski MJ, Kannankeril PJ, Knollmann BC TITLE Molecular and tissue mechanisms of catecholaminergic polymorphic ventricular tachycardia. JOURNAL J Physiol 598:2817-2834 (2020) DOI:10.1113/JP276757 REFERENCE PMID:36496072 AUTHORS Prakash O, Gupta N, Milburn A, McCormick L, Deugi V, Fisch P, Wyles J, Thomas NL, Antonyuk S, Dart C, Helassa N TITLE Calmodulin variant E140G associated with long QT syndrome impairs CaMKIIdelta autophosphorylation and L-type calcium channel inactivation. JOURNAL J Biol Chem 299:102777 (2023) DOI:10.1016/j.jbc.2022.102777 /// ENTRY 81027v1 Variant NAME TUBB1 mutation GENE TUBB1 tubulin beta 1 class VI [KO:K07375] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 612901 NETWORK nt06515 Regulation of kinetochore-microtubule interactions DISEASE H01740 Macrothrombocytopenia REFERENCE PMID:18849486 AUTHORS Kunishima S, Kobayashi R, Itoh TJ, Hamaguchi M, Saito H TITLE Mutation of the beta1-tubulin gene associated with congenital macrothrombocytopenia affecting microtubule assembly. JOURNAL Blood 113:458-61 (2009) DOI:10.1182/blood-2008-06-162610 /// ENTRY 8131v1 Variant NAME NPRL3 mutation GENE NPRL3 NPR3 like, GATOR1 complex subunit [KO:K20406] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 600928 NETWORK nt06522 mTOR signaling DISEASE H02214 Familial focal epilepsy with variable foci REFERENCE PMID:27173016 AUTHORS Weckhuysen S, Marsan E, Lambrecq V, Marchal C, Morin-Brureau M, An-Gourfinkel I, Baulac M, Fohlen M, Kallay Zetchi C, Seeck M, de la Grange P, Dermaut B, Meurs A, Thomas P, Chassoux F, Leguern E, Picard F, Baulac S TITLE Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia. JOURNAL Epilepsia 57:994-1003 (2016) DOI:10.1111/epi.13391 /// ENTRY 81494v1 Variant NAME CFHR5 mutation GENE CFHR5 complement factor H related 5 [KO:K23817] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 608593 NETWORK nt06513 Complement cascade DISEASE H02579 C3 glomerulopathy REFERENCE PMID:35734939 AUTHORS Heiderscheit AK, Hauer JJ, Smith RJH TITLE C3 glomerulopathy: Understanding an ultra-rare complement-mediated renal disease. JOURNAL Am J Med Genet C Semin Med Genet 190:344-357 (2022) DOI:10.1002/ajmg.c.31986 /// ENTRY 815v1 Variant NAME CAMK2A mutation GENE CAMK2A calcium/calmodulin dependent protein kinase II alpha [KO:K04515] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 114078 NETWORK nt06528 Calcium signaling DISEASE H00768 Autosomal recessive intellectual developmental disorder H00773 Autosomal dominant intellectual developmental disorder REFERENCE PMID:29784083 AUTHORS Chia PH, Zhong FL, Niwa S, Bonnard C, Utami KH, Zeng R, Lee H, Eskin A, Nelson SF, Xie WH, Al-Tawalbeh S, El-Khateeb M, Shboul M, Pouladi MA, Al-Raqad M, Reversade B TITLE A homozygous loss-of-function CAMK2A mutation causes growth delay, frequent seizures and severe intellectual disability. JOURNAL Elife 7:e32451 (2018) DOI:10.7554/eLife.32451 REFERENCE PMID:29560374 AUTHORS Akita T, Aoto K, Kato M, Shiina M, Mutoh H, Nakashima M, Kuki I, Okazaki S, Magara S, Shiihara T, Yokochi K, Aiba K, Tohyama J, Ohba C, Miyatake S, Miyake N, Ogata K, Fukuda A, Matsumoto N, Saitsu H TITLE De novo variants in CAMK2A and CAMK2B cause neurodevelopmental disorders. JOURNAL Ann Clin Transl Neurol 5:280-296 (2018) DOI:10.1002/acn3.528 /// ENTRY 81620v1 Variant NAME CDT1 mutation GENE CDT1 chromatin licensing and DNA replication factor 1 [KO:K10727] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 605525 NETWORK nt06509 DNA replication DISEASE H01889 Meier-Gorlin syndrome REFERENCE PMID:21358632 AUTHORS Bicknell LS, Bongers EM, Leitch A, Brown S, Schoots J, Harley ME, Aftimos S, Al-Aama JY, Bober M, Brown PA, van Bokhoven H, Dean J, Edrees AY, Feingold M, Fryer A, Hoefsloot LH, Kau N, Knoers NV, Mackenzie J, Opitz JM, Sarda P, Ross A, Temple IK, Toutain A, Wise CA, Wright M, Jackson AP TITLE Mutations in the pre-replication complex cause Meier-Gorlin syndrome. JOURNAL Nat Genet 43:356-9 (2011) DOI:10.1038/ng.775 /// ENTRY 816v1 Variant NAME CAMK2B mutation GENE CAMK2B calcium/calmodulin dependent protein kinase II beta [KO:K04515] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 607707 NETWORK nt06528 Calcium signaling DISEASE H00773 Autosomal dominant intellectual developmental disorder REFERENCE PMID:29560374 AUTHORS Akita T, Aoto K, Kato M, Shiina M, Mutoh H, Nakashima M, Kuki I, Okazaki S, Magara S, Shiihara T, Yokochi K, Aiba K, Tohyama J, Ohba C, Miyatake S, Miyake N, Ogata K, Fukuda A, Matsumoto N, Saitsu H TITLE De novo variants in CAMK2A and CAMK2B cause neurodevelopmental disorders. JOURNAL Ann Clin Transl Neurol 5:280-296 (2018) DOI:10.1002/acn3.528 /// ENTRY 818v1 Variant NAME CAMK2G mutation GENE CAMK2G calcium/calmodulin dependent protein kinase II gamma [KO:K04515] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 602123 NETWORK nt06528 Calcium signaling DISEASE H00773 Autosomal dominant intellectual developmental disorder REFERENCE PMID:30184290 AUTHORS Proietti Onori M, Koopal B, Everman DB, Worthington JD, Jones JR, Ploeg MA, Mientjes E, van Bon BW, Kleefstra T, Schulman H, Kushner SA, Kury S, Elgersma Y, van Woerden GM TITLE The intellectual disability-associated CAMK2G p.Arg292Pro mutation acts as a pathogenic gain-of-function. JOURNAL Hum Mutat 39:2008-2024 (2018) DOI:10.1002/humu.23647 /// ENTRY 8200v1 Variant NAME GDF5 mutation GENE GDF5 growth differentiation factor 5 [KO:K04664] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 601146 NETWORK nt06507 TGFB signaling DISEASE H00482 Brachydactyly H00484 Multiple synostosis syndrome H00851 Proximal symphalangism H02543 Acromesomelic dysplasia REFERENCE PMID:30246251 AUTHORS Gomez-Puerto MC, Iyengar PV, Garcia de Vinuesa A, Ten Dijke P, Sanchez-Duffhues G TITLE Bone morphogenetic protein receptor signal transduction in human disease. JOURNAL J Pathol 247:9-20 (2019) DOI:10.1002/path.5170 REFERENCE PMID:27563484 AUTHORS Wu M, Chen G, Li YP TITLE TGF-beta and BMP signaling in osteoblast, skeletal development, and bone formation, homeostasis and disease. JOURNAL Bone Res 4:16009 (2016) DOI:10.1038/boneres.2016.9 /// ENTRY 8216v1 Variant NAME LZTR1 mutation GENE LZTR1 leucine zipper like post translational regulator 1 [KO:K23330] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 600574 NETWORK nt06526 MAPK signaling DISEASE H01738 Noonan syndrome REFERENCE PMID:33011209 AUTHORS Malaquias AC, Jorge AAL TITLE Activation of the MAPK pathway (RASopathies) and partial growth hormone insensitivity. JOURNAL Mol Cell Endocrinol 519:111040 (2021) DOI:10.1016/j.mce.2020.111040 /// ENTRY 8243v1 Variant NAME SMC1 mutation GENE SMC1A structural maintenance of chromosomes 1A [KO:K06636] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 300040 NETWORK nt06512 Chromosome cohesion and segregation DISEASE H00606 Early infantile epileptic encephalopathy H00631 Cornelia de Lange syndrome REFERENCE PMID:16604071 AUTHORS Musio A, Selicorni A, Focarelli ML, Gervasini C, Milani D, Russo S, Vezzoni P, Larizza L TITLE X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. JOURNAL Nat Genet 38:528-30 (2006) DOI:10.1038/ng1779 REFERENCE PMID:26752331 AUTHORS Jansen S, Kleefstra T, Willemsen MH, de Vries P, Pfundt R, Hehir-Kwa JY, Gilissen C, Veltman JA, de Vries BB, Vissers LE TITLE De novo loss-of-function mutations in X-linked SMC1A cause severe ID and therapy-resistant epilepsy in females: expanding the phenotypic spectrum. JOURNAL Clin Genet 90:413-419 (2016) DOI:10.1111/cge.12729 /// ENTRY 8309v1 Variant NAME ACOX2 deficiency GENE ACOX2 acyl-CoA oxidase 2 [KO:K10214] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 601641 NETWORK nt06022 Bile acid biosynthesis DISEASE H00628 Congenital bile acid synthesis defect REFERENCE PMID:27884763 AUTHORS Monte MJ, Alonso-Pena M, Briz O, Herraez E, Berasain C, Argemi J, Prieto J, Marin JJG TITLE ACOX2 deficiency: An inborn error of bile acid synthesis identified in an adolescent with persistent hypertransaminasemia. JOURNAL J Hepatol 66:581-588 (2017) DOI:10.1016/j.jhep.2016.11.005 /// ENTRY 8312v1 Variant NAME AXIN1 mutation GENE AXIN1 axin 1 [KO:K02157] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutation P345L COSM: 142849 VARIATION mutation L106R COSM: 142850 VARIATION mutation G425S COSM: 4387483 NETWORK nt06215 WNT signaling nt06263 Hepatocellular carcinoma nt06505 WNT signaling DISEASE H00048 Hepatocellular carcinoma REFERENCE PMID:10700176 AUTHORS Satoh S, Daigo Y, Furukawa Y, Kato T, Miwa N, Nishiwaki T, Kawasoe T, Ishiguro H, Fujita M, Tokino T, Sasaki Y, Imaoka S, Murata M, Shimano T, Yamaoka Y, Nakamura Y TITLE AXIN1 mutations in hepatocellular carcinomas, and growth suppression in cancer cells by virus-mediated transfer of AXIN1. JOURNAL Nat Genet 24:245-50 (2000) DOI:10.1038/73448 REFERENCE PMID:15735151 AUTHORS Salahshor S, Woodgett JR TITLE The links between axin and carcinogenesis. JOURNAL J Clin Pathol 58:225-36 (2005) DOI:10.1136/jcp.2003.009506 REFERENCE PMID:12101426 AUTHORS Taniguchi K, Roberts LR, Aderca IN, Dong X, Qian C, Murphy LM, Nagorney DM, Burgart LJ, Roche PC, Smith DI, Ross JA, Liu W TITLE Mutational spectrum of beta-catenin, AXIN1, and AXIN2 in hepatocellular carcinomas and hepatoblastomas. JOURNAL Oncogene 21:4863-71 (2002) DOI:10.1038/sj.onc.1205591 REFERENCE PMID:25236910 AUTHORS Mazzoni SM, Fearon ER TITLE AXIN1 and AXIN2 variants in gastrointestinal cancers. JOURNAL Cancer Lett 355:1-8 (2014) DOI:10.1016/j.canlet.2014.09.018 REFERENCE PMID:23879168 AUTHORS Li J, Quan H, Liu Q, Si Z, He Z, Qi H TITLE Alterations of axis inhibition protein 1 (AXIN1) in hepatitis B virus-related hepatocellular carcinoma and overexpression of AXIN1 induces apoptosis in hepatocellular cancer cells. JOURNAL Oncol Res 20:281-8 (2013) DOI:10.3727/096504013X13639794277608 /// ENTRY 8313v1 Variant NAME AXIN2 mutation GENE AXIN2 axin 2 [KO:K04385] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 604025 NETWORK nt06505 WNT signaling DISEASE H00857 Oligodontia-colorectal cancer syndrome REFERENCE PMID:29969831 AUTHORS Yu M, Wong SW, Han D, Cai T TITLE Genetic analysis: Wnt and other pathways in nonsyndromic tooth agenesis. JOURNAL Oral Dis 25:646-651 (2019) DOI:10.1111/odi.12931 /// ENTRY 8314v1 Variant NAME BAP1 mutation GENE BAP1 BRCA1 associated protein 1 [KO:K08588] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 603089 NETWORK nt06523 Epigenetic regulation by Polycomb complexes DISEASE H02623 Kury-Isidor syndrome H02624 Tumor predisposition syndrome REFERENCE PMID:35051358 AUTHORS Kury S, Ebstein F, Molle A, Besnard T, Lee MK, Vignard V, Hery T, Nizon M, Mancini GMS, Giltay JC, Cogne B, McWalter K, Deb W, Mor-Shaked H, Li H, Schnur RE, Wentzensen IM, Denomme-Pichon AS, Fourgeux C, Verheijen FW, Faurie E, Schot R, Stevens CA, Smits DJ, Barr E, Sheffer R, Bernstein JA, Stimach CL, Kovitch E, Shashi V, Schoch K, Smith W, van Jaarsveld RH, Hurst ACE, Smith K, Baugh EH, Bohm SG, Vyhnalkova E, Ryba L, Delnatte C, Neira J, Bonneau D, Toutain A, Rosenfeld JA, Audebert-Bellanger S, Gilbert-Dussardier B, Odent S, Laumonnier F, Berger SI, Smith ACM, Bourdeaut F, Stern MH, Redon R, Kruger E, Margueron R, Bezieau S, Poschmann J, Isidor B TITLE Rare germline heterozygous missense variants in BRCA1-associated protein 1, BAP1, cause a syndromic neurodevelopmental disorder. JOURNAL Am J Hum Genet 109:361-372 (2022) DOI:10.1016/j.ajhg.2021.12.011 REFERENCE PMID:21941004 AUTHORS Abdel-Rahman MH, Pilarski R, Cebulla CM, Massengill JB, Christopher BN, Boru G, Hovland P, Davidorf FH TITLE Germline BAP1 mutation predisposes to uveal melanoma, lung adenocarcinoma, meningioma, and other cancers. JOURNAL J Med Genet 48:856-9 (2011) DOI:10.1136/jmedgenet-2011-100156 /// ENTRY 8318v1 Variant NAME CDC45 mutation GENE CDC45 cell division cycle 45 [KO:K06628] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 603465 NETWORK nt06509 DNA replication DISEASE H01889 Meier-Gorlin syndrome REFERENCE PMID:27374770 AUTHORS Fenwick AL, Kliszczak M, Cooper F, Murray J, Sanchez-Pulido L, Twigg SR, Goriely A, McGowan SJ, Miller KA, Taylor IB, Logan C, Bozdogan S, Danda S, Dixon J, Elsayed SM, Elsobky E, Gardham A, Hoffer MJ, Koopmans M, McDonald-McGinn DM, Santen GW, Savarirayan R, de Silva D, Vanakker O, Wall SA, Wilson LC, Yuregir OO, Zackai EH, Ponting CP, Jackson AP, Wilkie AO, Niedzwiedz W, Bicknell LS TITLE Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis. JOURNAL Am J Hum Genet 99:125-38 (2016) DOI:10.1016/j.ajhg.2016.05.019 /// ENTRY 8323v1 Variant NAME FZD6 mutation GENE FZD6 frizzled class receptor 6 [KO:K02376] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 603409 NETWORK nt06505 WNT signaling DISEASE H01307 Nonsyndromic congenital nail disorder REFERENCE PMID:22211385 AUTHORS Naz G, Pasternack SM, Perrin C, Mattheisen M, Refke M, Khan S, Gul A, Simons M, Ahmad W, Betz RC TITLE FZD6 encoding the Wnt receptor frizzled 6 is mutated in autosomal-recessive nail dysplasia. JOURNAL Br J Dermatol 166:1088-94 (2012) DOI:10.1111/j.1365-2133.2011.10800.x /// ENTRY 8324v1 Variant NAME FZD7 overexpression GENE FZD7 frizzled class receptor 7 [KO:K02432] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION overexpression NETWORK nt06215 WNT signaling nt06263 Hepatocellular carcinoma nt06270 Breast cancer DISEASE H00031 Breast cancer H00048 Hepatocellular carcinoma REFERENCE PMID:21898546 AUTHORS King TD, Suto MJ, Li Y TITLE The Wnt/beta-catenin signaling pathway: a potential therapeutic target in the treatment of triple negative breast cancer. JOURNAL J Cell Biochem 113:13-8 (2012) DOI:10.1002/jcb.23350 REFERENCE PMID:16098625 AUTHORS Merle P, Kim M, Herrmann M, Gupte A, Lefrancois L, Califano S, Trepo C, Tanaka S, Vitvitski L, de la Monte S, Wands JR TITLE Oncogenic role of the frizzled-7/beta-catenin pathway in hepatocellular carcinoma. JOURNAL J Hepatol 43:854-62 (2005) DOI:10.1016/j.jhep.2005.05.018 REFERENCE PMID:19387255 AUTHORS Minguez B, Tovar V, Chiang D, Villanueva A, Llovet JM TITLE Pathogenesis of hepatocellular carcinoma and molecular therapies. JOURNAL Curr Opin Gastroenterol 25:186-94 (2009) DOI:10.1097/MOG.0b013e32832962a1 /// ENTRY 8379v1 Variant NAME MAD1L1 mutation GENE MAD1L1 mitotic arrest deficient 1 like 1 [KO:K06679] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 602686 NETWORK nt06515 Regulation of kinetochore-microtubule interactions DISEASE H00024 Prostate cancer REFERENCE PMID:11423979 AUTHORS Tsukasaki K, Miller CW, Greenspun E, Eshaghian S, Kawabata H, Fujimoto T, Tomonaga M, Sawyers C, Said JW, Koeffler HP TITLE Mutations in the mitotic check point gene, MAD1L1, in human cancers. JOURNAL Oncogene 20:3301-5 (2001) DOI:10.1038/sj.onc.1204421 /// ENTRY 83990v1 Variant NAME BRIP1 mutation GENE BRIP1 BRCA1 interacting helicase 1 [KO:K15362] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 605882 NETWORK nt06508 Interstrand crosslink repair DISEASE H00031 Breast cancer H00238 Fanconi anemia REFERENCE PMID:16116424 AUTHORS Levran O, Attwooll C, Henry RT, Milton KL, Neveling K, Rio P, Batish SD, Kalb R, Velleuer E, Barral S, Ott J, Petrini J, Schindler D, Hanenberg H, Auerbach AD TITLE The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia. JOURNAL Nat Genet 37:931-3 (2005) DOI:10.1038/ng1624 /// ENTRY 84153v1 Variant NAME RNASEH2C mutation GENE RNASEH2C ribonuclease H2 subunit C [KO:K10745] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 610330 NETWORK nt06509 DNA replication nt06520 CGAS-STING signaling DISEASE H00290 Aicardi-Goutieres syndrome REFERENCE PMID:16845400 AUTHORS Crow YJ, Leitch A, Hayward BE, Garner A, Parmar R, Griffith E, Ali M, Semple C, Aicardi J, Babul-Hirji R, Baumann C, Baxter P, Bertini E, Chandler KE, Chitayat D, Cau D, Dery C, Fazzi E, Goizet C, King MD, Klepper J, Lacombe D, Lanzi G, Lyall H, Martinez-Frias ML, Mathieu M, McKeown C, Monier A, Oade Y, Quarrell OW, Rittey CD, Rogers RC, Sanchis A, Stephenson JB, Tacke U, Till M, Tolmie JL, Tomlin P, Voit T, Weschke B, Woods CG, Lebon P, Bonthron DT, Ponting CP, Jackson AP TITLE Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutieres syndrome and mimic congenital viral brain infection. JOURNAL Nat Genet 38:910-6 (2006) DOI:10.1038/ng1842 /// ENTRY 84197v1 Variant NAME POMK deficiency GENE POMK protein O-mannose kinase [KO:K17547] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 615247 NETWORK nt06013 O-Glycan biosynthesis DISEASE H00120 Muscular dystrophy-dystroglycanopathy type A H01959 Muscular dystrophy-dystroglycanopathy type C REFERENCE PMID:24925318 AUTHORS Di Costanzo S, Balasubramanian A, Pond HL, Rozkalne A, Pantaleoni C, Saredi S, Gupta VA, Sunu CM, Yu TW, Kang PB, Salih MA, Mora M, Gussoni E, Walsh CA, Manzini MC TITLE POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations. JOURNAL Hum Mol Genet 23:5781-92 (2014) DOI:10.1093/hmg/ddu296 /// ENTRY 841v1 Variant NAME CASP8 mutation GENE CASP8 caspase 8 [KO:K04398] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 601763 NETWORK nt06524 Apoptosis nt06527 Necroptosis DISEASE H00108 Autoimmune lymphoproliferative syndromes REFERENCE PMID:33356695 AUTHORS Casamayor-Polo L, Lopez-Nevado M, Paz-Artal E, Anel A, Rieux-Laucat F, Allende LM TITLE Immunologic evaluation and genetic defects of apoptosis in patients with autoimmune lymphoproliferative syndrome (ALPS). JOURNAL Crit Rev Clin Lab Sci 58:253-274 (2021) DOI:10.1080/10408363.2020.1855623 /// ENTRY 8438v1 Variant NAME RAD54L mutation GENE RAD54L RAD54 like [KO:K10875] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutation OmimVar: 603615 NETWORK nt06506 Double-strand break repair DISEASE H00031 Breast cancer H02418 Non-Hodgkin lymphoma REFERENCE PMID:10362365 AUTHORS Matsuda M, Miyagawa K, Takahashi M, Fukuda T, Kataoka T, Asahara T, Inui H, Watatani M, Yasutomi M, Kamada N, Dohi K, Kamiya K TITLE Mutations in the RAD54 recombination gene in primary cancers. JOURNAL Oncogene 18:3427-30 (1999) DOI:10.1038/sj.onc.1202692 /// ENTRY 843v1 Variant NAME CASP10 mutation GENE CASP10 caspase 10 [KO:K04400] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 601762 NETWORK nt06524 Apoptosis DISEASE H00108 Autoimmune lymphoproliferative syndromes REFERENCE PMID:33356695 AUTHORS Casamayor-Polo L, Lopez-Nevado M, Paz-Artal E, Anel A, Rieux-Laucat F, Allende LM TITLE Immunologic evaluation and genetic defects of apoptosis in patients with autoimmune lymphoproliferative syndrome (ALPS). JOURNAL Crit Rev Clin Lab Sci 58:253-274 (2021) DOI:10.1080/10408363.2020.1855623 /// ENTRY 84464v1 Variant NAME SLX4 mutation GENE SLX4 SLX4 structure-specific endonuclease subunit [KO:K10484] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 613278 NETWORK nt06506 Double-strand break repair nt06508 Interstrand crosslink repair DISEASE H00238 Fanconi anemia REFERENCE PMID:21240277 AUTHORS Stoepker C, Hain K, Schuster B, Hilhorst-Hofstee Y, Rooimans MA, Steltenpool J, Oostra AB, Eirich K, Korthof ET, Nieuwint AW, Jaspers NG, Bettecken T, Joenje H, Schindler D, Rouse J, de Winter JP TITLE SLX4, a coordinator of structure-specific endonucleases, is mutated in a new Fanconi anemia subtype. JOURNAL Nat Genet 43:138-41 (2011) DOI:10.1038/ng.751 /// ENTRY 844v1 Variant NAME CASQ1 mutation GENE CASQ1 calsequestrin 1 [KO:K23468] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 114250 NETWORK nt06528 Calcium signaling DISEASE H02320 Vacuolar myopathy with CASQ1 aggregates REFERENCE PMID:33786938 AUTHORS Hanna AD, Lee CS, Babcock L, Wang H, Recio J, Hamilton SL TITLE Pathological mechanisms of vacuolar aggregate myopathy arising from a Casq1 mutation. JOURNAL FASEB J 35:e21349 (2021) DOI:10.1096/fj.202001653RR /// ENTRY 84515v1 Variant NAME MCM8 mutation GENE MCM8 minichromosome maintenance 8 homologous recombination repair factor [KO:K10737] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 608187 NETWORK nt06508 Interstrand crosslink repair DISEASE H00627 Premature ovarian failure REFERENCE PMID:25437880 AUTHORS AlAsiri S, Basit S, Wood-Trageser MA, Yatsenko SA, Jeffries EP, Surti U, Ketterer DM, Afzal S, Ramzan K, Faiyaz-Ul Haque M, Jiang H, Trakselis MA, Rajkovic A TITLE Exome sequencing reveals MCM8 mutation underlies ovarian failure and chromosomal instability. JOURNAL J Clin Invest 125:258-62 (2015) DOI:10.1172/JCI78473 /// ENTRY 845v1 Variant NAME CASQ2 mutation GENE CASQ2 calsequestrin 2 [KO:K23445] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 114251 NETWORK nt06528 Calcium signaling DISEASE H01019 Catecholaminergic polymorphic ventricular tachycardia REFERENCE PMID:32115705 AUTHORS Wleklinski MJ, Kannankeril PJ, Knollmann BC TITLE Molecular and tissue mechanisms of catecholaminergic polymorphic ventricular tachycardia. JOURNAL J Physiol 598:2817-2834 (2020) DOI:10.1113/JP276757 /// ENTRY 84617v1 Variant NAME TUBB6 mutation GENE TUBB6 tubulin beta 6 class V [KO:K07375] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 615103 NETWORK nt06515 Regulation of kinetochore-microtubule interactions DISEASE H02594 Congenital facial palsy with ptosis and velopharyngeal dysfunction REFERENCE PMID:29016863 AUTHORS Fazeli W, Herkenrath P, Stiller B, Neugebauer A, Fricke J, Lang-Roth R, Nurnberg G, Thoenes M, Becker J, Altmuller J, Volk AE, Kubisch C, Heller R TITLE A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction. JOURNAL Hum Mol Genet 26:4055-4066 (2017) DOI:10.1093/hmg/ddx296 /// ENTRY 84634v1 Variant NAME KISS1R inactivaing mutation GENE KISS1R KISS1 receptor [KO:K08374] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutation L148S ClinVar: 5755 dbSNP: rs28939719 VARIATION mutation R331Ter ClinVar: 5756 dbSNP: rs104894701 VARIATION mutation Ter399R ClinVar: 5757 dbSNP: rs104894702 VARIATION mutation L102P ClinVar: 5759 dbSNP: rs104894703 NETWORK nt06323 KISS1-GnRH-LH/FSH-E2 signaling nt06361 Hypogonadotropic hypogonadism DISEASE H00255 Hypogonadotropic hypogonadism REFERENCE PMID:22376279 AUTHORS Dedes I TITLE Kisspeptins and the control of gonadotrophin secretion. JOURNAL Syst Biol Reprod Med 58:121-8 (2012) DOI:10.3109/19396368.2011.651555 REFERENCE PMID:21193544 AUTHORS Nimri R, Lebenthal Y, Lazar L, Chevrier L, Phillip M, Bar M, Hernandez-Mora E, de Roux N, Gat-Yablonski G TITLE A novel loss-of-function mutation in GPR54/KISS1R leads to hypogonadotropic hypogonadism in a highly consanguineous family. JOURNAL J Clin Endocrinol Metab 96:E536-45 (2011) DOI:10.1210/jc.2010-1676 REFERENCE PMID:20816945 AUTHORS Silveira LG, Tusset C, Latronico AC TITLE Impact of mutations in kisspeptin and neurokinin B signaling pathways on human reproduction. JOURNAL Brain Res 1364:72-80 (2010) DOI:10.1016/j.brainres.2010.08.087 REFERENCE PMID:19770291 AUTHORS Oakley AE, Clifton DK, Steiner RA TITLE Kisspeptin signaling in the brain. JOURNAL Endocr Rev 30:713-43 (2009) DOI:10.1210/er.2009-0005 REFERENCE PMID:20374724 AUTHORS Teles MG, Silveira LF, Bianco S, Latronico AC TITLE Human diseases associated with GPR54 mutations. JOURNAL Prog Mol Biol Transl Sci 88:33-56 (2009) DOI:10.1016/S1877-1173(09)88002-2 /// ENTRY 84634v2 Variant NAME KISS1R activating mutation GENE KISS1R KISS1 receptor [KO:K08374] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutation R386P ClinVar: 5760 dbSNP: 121908499 NETWORK nt06323 KISS1-GnRH-LH/FSH-E2 signaling DISEASE H00937 Precocious puberty REFERENCE PMID:20374724 AUTHORS Teles MG, Silveira LF, Bianco S, Latronico AC TITLE Human diseases associated with GPR54 mutations. JOURNAL Prog Mol Biol Transl Sci 88:33-56 (2009) DOI:10.1016/S1877-1173(09)88002-2 REFERENCE PMID:18272894 AUTHORS Teles MG, Bianco SD, Brito VN, Trarbach EB, Kuohung W, Xu S, Seminara SB, Mendonca BB, Kaiser UB, Latronico AC TITLE A GPR54-activating mutation in a patient with central precocious puberty. JOURNAL N Engl J Med 358:709-15 (2008) DOI:10.1056/NEJMoa073443 REFERENCE PMID:19770291 AUTHORS Oakley AE, Clifton DK, Steiner RA TITLE Kisspeptin signaling in the brain. JOURNAL Endocr Rev 30:713-43 (2009) DOI:10.1210/er.2009-0005 /// ENTRY 84667v1 Variant NAME HES7 mutation GENE HES7 hes family bHLH transcription factor 7 [KO:K09087] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 608059 NETWORK nt06511 NOTCH signaling DISEASE H00517 Spondylocostal dysostosis REFERENCE PMID:35332121 AUTHORS Zhou B, Lin W, Long Y, Yang Y, Zhang H, Wu K, Chu Q TITLE Notch signaling pathway: architecture, disease, and therapeutics. JOURNAL Signal Transduct Target Ther 7:95 (2022) DOI:10.1038/s41392-022-00934-y /// ENTRY 84693v1 Variant NAME MCEE deficiency GENE MCEE methylmalonyl-CoA epimerase [KO:K05606] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 608419 NETWORK nt06024 Valine, leucine and isoleucine degradation DISEASE H00174 Methylmalonic aciduria REFERENCE PMID:16752391 AUTHORS Bikker H, Bakker HD, Abeling NG, Poll-The BT, Kleijer WJ, Rosenblatt DS, Waterham HR, Wanders RJ, Duran M TITLE A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria. JOURNAL Hum Mutat 27:640-3 (2006) DOI:10.1002/humu.20373 /// ENTRY 846v1 Variant NAME CASR mutation GENE CASR calcium sensing receptor [KO:K04612] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutation R886P ClinVar: 379932 dbSNP: rs1057520791 VARIATION mutation F881L ClinVar: 8340 dbSNP: rs104893704 VARIATION mutation E297K ClinVar: 8313 dbSNP: rs121909259 VARIATION mutation R185Q ClinVar: 8314 dbSNP: rs104893689 VARIATION mutation R277L ClinVar: 8317 dbSNP: rs28936684 VARIATION mutation C582Y ClinVar: 8318 dbSNP: rs104893690 VARIATION mutation S749Qfs ClinVar: 8319 dbSNP: rs869320729 VARIATION mutation G670E ClinVar: 8329 dbSNP: rs104893700 VARIATION mutation R648Ter ClinVar: 8341 dbSNP: rs104893705 VARIATION mutation R185Ter ClinVar: 8345 dbSNP: rs104893707 VARIATION mutation G94Ter ClinVar: 8351 dbSNP: rs104893709 NETWORK nt06318 CaSR-PTH signaling DISEASE H00246 Primary hyperparathyroidism H02030 Neonatal hyperparathyroidism REFERENCE PMID:20374733 AUTHORS Hendy GN, Guarnieri V, Canaff L TITLE Calcium-sensing receptor and associated diseases. JOURNAL Prog Mol Biol Transl Sci 89:31-95 (2009) DOI:10.1016/S1877-1173(09)89003-0 REFERENCE PMID:10843194 AUTHORS Carling T, Szabo E, Bai M, Ridefelt P, Westin G, Gustavsson P, Trivedi S, Hellman P, Brown EM, Dahl N, Rastad J TITLE Familial hypercalcemia and hypercalciuria caused by a novel mutation in the cytoplasmic tail of the calcium receptor. JOURNAL J Clin Endocrinol Metab 85:2042-7 (2000) DOI:10.1210/jcem.85.5.6477 REFERENCE PMID:7916660 AUTHORS Pollak MR, Brown EM, Chou YH, Hebert SC, Marx SJ, Steinmann B, Levi T, Seidman CE, Seidman JG TITLE Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. JOURNAL Cell 75:1297-303 (1993) DOI:10.1016/0092-8674(93)90617-Y REFERENCE PMID:8675635 AUTHORS Pearce SH, Trump D, Wooding C, Besser GM, Chew SL, Grant DB, Heath DA, Hughes IA, Paterson CR, Whyte MP, et al. TITLE Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism. JOURNAL J Clin Invest 96:2683-92 (1995) DOI:10.1172/JCI118335 REFERENCE PMID:9253359 AUTHORS Kobayashi M, Tanaka H, Tsuzuki K, Tsuyuki M, Igaki H, Ichinose Y, Aya K, Nishioka N, Seino Y TITLE Two novel missense mutations in calcium-sensing receptor gene associated with neonatal severe hyperparathyroidism. JOURNAL J Clin Endocrinol Metab 82:2716-9 (1997) DOI:10.1210/jcem.82.8.4135 REFERENCE PMID:15292296 AUTHORS Ward BK, Magno AL, Davis EA, Hanyaloglu AC, Stuckey BG, Burrows M, Eidne KA, Charles AK, Ratajczak T TITLE Functional deletion of the calcium-sensing receptor in a case of neonatal severe hyperparathyroidism. JOURNAL J Clin Endocrinol Metab 89:3721-30 (2004) DOI:10.1210/jc.2003-031653 REFERENCE PMID:14985373 AUTHORS Warner J, Epstein M, Sweet A, Singh D, Burgess J, Stranks S, Hill P, Perry-Keene D, Learoyd D, Robinson B, Birdsey P, Mackenzie E, Teh BT, Prins JB, Cardinal J TITLE Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications. JOURNAL J Med Genet 41:155-60 (2004) DOI:10.1136/jmg.2003.016725 REFERENCE PMID:27803801 AUTHORS Colella M, Gerbino A, Hofer AM, Curci S TITLE Recent advances in understanding the extracellular calcium-sensing receptor. JOURNAL F1000Res 5:F1000 Faculty Rev-2535 (2016) DOI:10.12688/f1000research.8963.1 /// ENTRY 84720v1 Variant NAME PIGO deficiency GENE PIGO phosphatidylinositol glycan anchor biosynthesis class O [KO:K05288] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 614730 NETWORK nt06018 GPI-anchor biosynthesis DISEASE H01488 Hyperphosphatasia with mental retardation syndrome REFERENCE PMID:22683086 AUTHORS Krawitz PM, Murakami Y, Hecht J, Kruger U, Holder SE, Mortier GR, Delle Chiaie B, De Baere E, Thompson MD, Roscioli T, Kielbasa S, Kinoshita T, Mundlos S, Robinson PN, Horn D TITLE Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation. JOURNAL Am J Hum Genet 91:146-51 (2012) DOI:10.1016/j.ajhg.2012.05.004 /// ENTRY 8473v1 Variant NAME OGT mutation GENE OGT O-linked N-acetylglucosamine (GlcNAc) transferase [KO:K09667] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 300255 NETWORK nt06523 Epigenetic regulation by Polycomb complexes DISEASE H00480 X-linked intellectual developmental disorder REFERENCE PMID:29769320 AUTHORS Selvan N, George S, Serajee FJ, Shaw M, Hobson L, Kalscheuer V, Prasad N, Levy SE, Taylor J, Aftimos S, Schwartz CE, Huq AM, Gecz J, Wells L TITLE O-GlcNAc transferase missense mutations linked to X-linked intellectual disability deregulate genes involved in cell fate determination and signaling. JOURNAL J Biol Chem 293:10810-10824 (2018) DOI:10.1074/jbc.RA118.002583 /// ENTRY 84876v1 Variant NAME ORAI1 mutation GENE ORAI1 ORAI calcium release-activated calcium modulator 1 [KO:K16056] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 610277 NETWORK nt06528 Calcium signaling DISEASE H00093 Combined immunodeficiency H02258 Tubular aggregate myopathy REFERENCE PMID:33250786 AUTHORS Silva-Rojas R, Laporte J, Bohm J TITLE STIM1/ORAI1 Loss-of-Function and Gain-of-Function Mutations Inversely Impact on SOCE and Calcium Homeostasis and Cause Multi-Systemic Mirror Diseases. JOURNAL Front Physiol 11:604941 (2020) DOI:10.3389/fphys.2020.604941 REFERENCE PMID:20189884 AUTHORS Feske S, Picard C, Fischer A TITLE Immunodeficiency due to mutations in ORAI1 and STIM1. JOURNAL Clin Immunol 135:169-82 (2010) DOI:10.1016/j.clim.2010.01.011 /// ENTRY 84892v1 Variant NAME POMGNT2 deficiency GENE POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) [KO:K18207] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 614828 NETWORK nt06013 O-Glycan biosynthesis DISEASE H00120 Muscular dystrophy-dystroglycanopathy type A H01959 Muscular dystrophy-dystroglycanopathy type C REFERENCE PMID:22958903 AUTHORS Manzini MC, Tambunan DE, Hill RS, Yu TW, Maynard TM, Heinzen EL, Shianna KV, Stevens CR, Partlow JN, Barry BJ, Rodriguez J, Gupta VA, Al-Qudah AK, Eyaid WM, Friedman JM, Salih MA, Clark R, Moroni I, Mora M, Beggs AH, Gabriel SB, Walsh CA TITLE Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome. JOURNAL Am J Hum Genet 91:541-7 (2012) DOI:10.1016/j.ajhg.2012.07.009 /// ENTRY 84987v1 Variant NAME COX14 mutation GENE COX14 cytochrome c oxidase assembly factor COX14 [KO:K18181] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 614478 NETWORK nt06529 Thermogenesis DISEASE H01368 Cytochrome c oxidase (COX) deficiency REFERENCE PMID:22243966 AUTHORS Weraarpachai W, Sasarman F, Nishimura T, Antonicka H, Aure K, Rotig A, Lombes A, Shoubridge EA TITLE Mutations in C12orf62, a factor that couples COX I synthesis with cytochrome c oxidase assembly, cause fatal neonatal lactic acidosis. JOURNAL Am J Hum Genet 90:142-51 (2012) DOI:10.1016/j.ajhg.2011.11.027 /// ENTRY 84992v1 Variant NAME PIGY deficiency GENE PIGY phosphatidylinositol glycan anchor biosynthesis class Y [KO:K11001] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 610662 NETWORK nt06018 GPI-anchor biosynthesis DISEASE H01488 Hyperphosphatasia with mental retardation syndrome REFERENCE PMID:26293662 AUTHORS Ilkovski B, Pagnamenta AT, O'Grady GL, Kinoshita T, Howard MF, Lek M, Thomas B, Turner A, Christodoulou J, Sillence D, Knight SJ, Popitsch N, Keays DA, Anzilotti C, Goriely A, Waddell LB, Brilot F, North KN, Kanzawa N, Macarthur DG, Taylor JC, Kini U, Murakami Y, Clarke NF TITLE Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies. JOURNAL Hum Mol Genet 24:6146-59 (2015) DOI:10.1093/hmg/ddv331 /// ENTRY 8517v1 Variant NAME IKBKG mutation GENE IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma [KO:K07210] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 300248 NETWORK nt06516 TNF signaling DISEASE H00540 Osteoporosis, lymphedema, anhydrotic ectodermal dysplasia with immunodeficiency (OLEDAID) H00645 Incontinentia pigmenti REFERENCE PMID:29456080 AUTHORS Maubach G, Schmadicke AC, Naumann M TITLE NEMO Links Nuclear Factor-kappaB to Human Diseases: (Trends Mol Med. 23, 1138-1155; 2017). JOURNAL Trends Mol Med 24:654 (2018) DOI:10.1016/j.molmed.2018.01.009 /// ENTRY 8517v2 Variant NAME IKBKG mutation GENE IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma [KO:K07210] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION E391Ter ClinVar: 11453 dbSNP: rs137853324 NETWORK nt06516 TNF signaling DISEASE H00540 Osteoporosis, lymphedema, anhydrotic ectodermal dysplasia with immunodeficiency (OLEDAID) REFERENCE PMID:26802121 AUTHORS Zilberman-Rudenko J, Shawver LM, Wessel AW, Luo Y, Pelletier M, Tsai WL, Lee Y, Vonortas S, Cheng L, Ashwell JD, Orange JS, Siegel RM, Hanson EP TITLE Recruitment of A20 by the C-terminal domain of NEMO suppresses NF-kappaB activation and autoinflammatory disease. JOURNAL Proc Natl Acad Sci U S A 113:1612-7 (2016) DOI:10.1073/pnas.1518163113 REFERENCE PMID:29456080 AUTHORS Maubach G, Schmadicke AC, Naumann M TITLE NEMO Links Nuclear Factor-kappaB to Human Diseases: (Trends Mol Med. 23, 1138-1155; 2017). JOURNAL Trends Mol Med 24:654 (2018) DOI:10.1016/j.molmed.2018.01.009 /// ENTRY 85365v1 Variant NAME ALG2 deficiency GENE ALG2 ALG2 alpha-1,3/1,6-mannosyltransferase [KO:K03843] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 607905 NETWORK nt06015 N-Glycan biosynthesis DISEASE H00118 Congenital disorders of glycosylation type I REFERENCE PMID:12684507 AUTHORS Thiel C, Schwarz M, Peng J, Grzmil M, Hasilik M, Braulke T, Kohlschutter A, von Figura K, Lehle L, Korner C. TITLE A new type of congenital disorders of glycosylation (CDG-Ii) provides new insights into the early steps of dolichol-linked oligosaccharide biosynthesis. JOURNAL J Biol Chem 278:22498-505 (2003) DOI:10.1074/jbc.M302850200 /// ENTRY 85366v1 Variant NAME MYLK2 mutation GENE MYLK2 myosin light chain kinase 2 [KO:K00907] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 606566 NETWORK nt06528 Calcium signaling DISEASE H00292 Hypertrophic cardiomyopathy REFERENCE PMID:11733062 AUTHORS Davis JS, Hassanzadeh S, Winitsky S, Lin H, Satorius C, Vemuri R, Aletras AH, Wen H, Epstein ND TITLE The overall pattern of cardiac contraction depends on a spatial gradient of myosin regulatory light chain phosphorylation. JOURNAL Cell 107:631-41 (2001) DOI:10.1016/s0092-8674(01)00586-4 /// ENTRY 85378v1 Variant NAME TUBGCP6 mutation GENE TUBGCP6 tubulin gamma complex component 6 [KO:K16573] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 610053 NETWORK nt06515 Regulation of kinetochore-microtubule interactions DISEASE H01880 Autosomal recessive microcephaly and chorioretinopathy REFERENCE PMID:25344692 AUTHORS Martin CA, Ahmad I, Klingseisen A, Hussain MS, Bicknell LS, Leitch A, Nurnberg G, Toliat MR, Murray JE, Hunt D, Khan F, Ali Z, Tinschert S, Ding J, Keith C, Harley ME, Heyn P, Muller R, Hoffmann I, Daire VC, Dollfus H, Dupuis L, Bashamboo A, McElreavey K, Kariminejad A, Mendoza-Londono R, Moore AT, Saggar A, Schlechter C, Weleber R, Thiele H, Altmuller J, Hohne W, Hurles ME, Noegel AA, Baig SM, Nurnberg P, Jackson AP TITLE Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy. JOURNAL Nat Genet 46:1283-92 (2014) DOI:10.1038/ng.3122 /// ENTRY 8547v1 Variant NAME FCN3 mutation GENE FCN3 ficolin 3 [KO:K10104] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 604973 NETWORK nt06513 Complement cascade DISEASE H00105 Mannose-binding lectin pathway component defects REFERENCE PMID:19535802 AUTHORS Munthe-Fog L, Hummelshoj T, Honore C, Madsen HO, Permin H, Garred P TITLE Immunodeficiency associated with FCN3 mutation and ficolin-3 deficiency. JOURNAL N Engl J Med 360:2637-44 (2009) DOI:10.1056/NEJMoa0900381 /// ENTRY 861v1 Variant NAME AML1-EVI1 fusion GENE RUNX1 RUNX family transcription factor 1 [KO:K08367] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION translocation t(3;21)(q26;q22) NETWORK nt06218 TGFB signaling nt06276 Chronic myeloid leukemia DISEASE H00004 Chronic myeloid leukemia REFERENCE PMID:15156182 AUTHORS Mitani K. TITLE Molecular mechanisms of leukemogenesis by AML1/EVI-1. JOURNAL Oncogene 23:4263-9 (2004) DOI:10.1038/sj.onc.1207777 REFERENCE PMID:9834202 AUTHORS Kurokawa M, Mitani K, Imai Y, Ogawa S, Yazaki Y, Hirai H. TITLE The t(3;21) fusion product, AML1/Evi-1, interacts with Smad3 and blocks transforming growth factor-beta-mediated growth inhibition of myeloid cells. JOURNAL Blood 92:4003-12 (1998) REFERENCE PMID:16484590 AUTHORS Dong M, Blobe GC. TITLE Role of transforming growth factor-beta in hematologic malignancies. JOURNAL Blood 107:4589-96 (2006) DOI:10.1182/blood-2005-10-4169 /// ENTRY 861v2 Variant NAME AML1-ETO fusion GENE RUNX1 RUNX family transcription factor 1 [KO:K08367] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION translocation t(8;21)(q22;q22) NETWORK nt06240 Transcription nt06275 Acute myeloid leukemia DISEASE H00003 Acute myeloid leukemia REFERENCE PMID:12032780 AUTHORS Scandura JM, Boccuni P, Cammenga J, Nimer SD TITLE Transcription factor fusions in acute leukemia: variations on a theme. JOURNAL Oncogene 21:3422-44 (2002) DOI:10.1038/sj.onc.1205315 REFERENCE PMID:16236521 AUTHORS Steffen B, Muller-Tidow C, Schwable J, Berdel WE, Serve H. TITLE The molecular pathogenesis of acute myeloid leukemia. JOURNAL Crit Rev Oncol Hematol 56:195-221 (2005) DOI:10.1016/j.critrevonc.2004.10.012 REFERENCE PMID:26959069 AUTHORS Saultz JN, Garzon R TITLE Acute Myeloid Leukemia: A Concise Review. JOURNAL J Clin Med 5:E33 (2016) DOI:10.3390/jcm5030033 /// ENTRY 861v3 Variant NAME AML1 mutation GENE RUNX1 RUNX family transcription factor 1 [KO:K08367] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutation R166Q ClinVar: 417961 dbSNP: rs1060499616 COSM: 36055 VARIATION mutation R201Q ClinVar: 14464 dbSNP: rs74315450 COSM: 24805 NETWORK nt06240 Transcription nt06275 Acute myeloid leukemia DISEASE H00003 Acute myeloid leukemia REFERENCE PMID:21343560 AUTHORS Gaidzik VI, Bullinger L, Schlenk RF, Zimmermann AS, Rock J, Paschka P, Corbacioglu A, Krauter J, Schlegelberger B, Ganser A, Spath D, Kundgen A, Schmidt-Wolf IG, Gotze K, Nachbaur D, Pfreundschuh M, Horst HA, Dohner H, Dohner K TITLE RUNX1 mutations in acute myeloid leukemia: results from a comprehensive genetic and clinical analysis from the AML study group. JOURNAL J Clin Oncol 29:1364-72 (2011) DOI:10.1200/JCO.2010.30.7926 REFERENCE PMID:27276561 AUTHORS Papaemmanuil E, Gerstung M, Bullinger L, Gaidzik VI, Paschka P, Roberts ND, Potter NE, Heuser M, Thol F, Bolli N, Gundem G, Van Loo P, Martincorena I, Ganly P, Mudie L, McLaren S, O'Meara S, Raine K, Jones DR, Teague JW, Butler AP, Greaves MF, Ganser A, Dohner K, Schlenk RF, Dohner H, Campbell PJ TITLE Genomic Classification and Prognosis in Acute Myeloid Leukemia. JOURNAL N Engl J Med 374:2209-2221 (2016) DOI:10.1056/NEJMoa1516192 REFERENCE PMID:10508512 AUTHORS Song WJ, Sullivan MG, Legare RD, Hutchings S, Tan X, Kufrin D, Ratajczak J, Resende IC, Haworth C, Hock R, Loh M, Felix C, Roy DC, Busque L, Kurnit D, Willman C, Gewirtz AM, Speck NA, Bushweller JH, Li FP, Gardiner K, Poncz M, Maris JM, Gilliland DG TITLE Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia. JOURNAL Nat Genet 23:166-75 (1999) DOI:10.1038/13793 /// ENTRY 861v4 Variant NAME TEL-AML1 fusion GENE RUNX1 RUNX family transcription factor 1 [KO:K08367] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION translocation t(12;21)(p12;q22) COSF: 2246 2258 2248 VARIATION translocation t(12;21)(p13;q22) COSF: 2246 2258 2248 NETWORK nt06240 Transcription DISEASE H00001 B-cell acute lymphoblastic leukemia REFERENCE PMID:14630078 AUTHORS Sawinska M, Ladon D TITLE Mechanism, detection and clinical significance of the reciprocal translocation t(12;21)(p12;q22) in the children suffering from acute lymphoblastic leukaemia. JOURNAL Leuk Res 28:35-42 (2004) DOI:10.1016/S0145-2126(03)00160-7 REFERENCE PMID:17237815 AUTHORS Morrow M, Samanta A, Kioussis D, Brady HJ, Williams O TITLE TEL-AML1 preleukemic activity requires the DNA binding domain of AML1 and the dimerization and corepressor binding domains of TEL. JOURNAL Oncogene 26:4404-14 (2007) DOI:10.1038/sj.onc.1210227 /// ENTRY 861v5 Variant NAME RUNX1 mutation GENE RUNX1 RUNX family transcription factor 1 [KO:K08367] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutation R166Q ClinVar: 417961 dbSNP: rs1060499616 COSM: 36055 VARIATION mutation R201Q ClinVar: 14464 dbSNP: rs74315450 COSM: 24805 REFERENCE PMID:21343560 AUTHORS Gaidzik VI, Bullinger L, Schlenk RF, Zimmermann AS, Rock J, Paschka P, Corbacioglu A, Krauter J, Schlegelberger B, Ganser A, Spath D, Kundgen A, Schmidt-Wolf IG, Gotze K, Nachbaur D, Pfreundschuh M, Horst HA, Dohner H, Dohner K TITLE RUNX1 mutations in acute myeloid leukemia: results from a comprehensive genetic and clinical analysis from the AML study group. JOURNAL J Clin Oncol 29:1364-72 (2011) DOI:10.1200/JCO.2010.30.7926 REFERENCE PMID:27276561 AUTHORS Papaemmanuil E, Gerstung M, Bullinger L, Gaidzik VI, Paschka P, Roberts ND, Potter NE, Heuser M, Thol F, Bolli N, Gundem G, Van Loo P, Martincorena I, Ganly P, Mudie L, McLaren S, O'Meara S, Raine K, Jones DR, Teague JW, Butler AP, Greaves MF, Ganser A, Dohner K, Schlenk RF, Dohner H, Campbell PJ TITLE Genomic Classification and Prognosis in Acute Myeloid Leukemia. JOURNAL N Engl J Med 374:2209-2221 (2016) DOI:10.1056/NEJMoa1516192 REFERENCE PMID:10508512 AUTHORS Song WJ, Sullivan MG, Legare RD, Hutchings S, Tan X, Kufrin D, Ratajczak J, Resende IC, Haworth C, Hock R, Loh M, Felix C, Roy DC, Busque L, Kurnit D, Willman C, Gewirtz AM, Speck NA, Bushweller JH, Li FP, Gardiner K, Poncz M, Maris JM, Gilliland DG TITLE Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia. JOURNAL Nat Genet 23:166-75 (1999) DOI:10.1038/13793 /// ENTRY 8622v1 Variant NAME PDE8B mutation GENE PDE8B phosphodiesterase 8B [KO:K18437] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutation H305P ClinVar: 6390 dbSNP: rs121918360 NETWORK nt06310 CRH-ACTH-cortisol signaling nt06360 Cushing syndrome DISEASE H00260 Pigmented micronodular adrenocortical disease H01431 Cushing syndrome H02049 Bilateral macronodular adrenal hyperplasia REFERENCE PMID:29233839 AUTHORS Bonnet-Serrano F, Bertherat J TITLE Genetics of tumors of the adrenal cortex. JOURNAL Endocr Relat Cancer 25:R131-R152 (2018) DOI:10.1530/ERC-17-0361 REFERENCE PMID:18272904 AUTHORS Horvath A, Mericq V, Stratakis CA TITLE Mutation in PDE8B, a cyclic AMP-specific phosphodiesterase in adrenal hyperplasia. JOURNAL N Engl J Med 358:750-2 (2008) DOI:10.1056/NEJMc0706182 /// ENTRY 8643v1 Variant NAME PTCH2 mutation GENE PTCH2 patched 2 [KO:K11101] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 603673 NETWORK nt06501 HH signaling DISEASE H00039 Basal cell carcinoma REFERENCE PMID:31781166 AUTHORS Sasai N, Toriyama M, Kondo T TITLE Hedgehog Signal and Genetic Disorders. JOURNAL Front Genet 10:1103 (2019) DOI:10.3389/fgene.2019.01103 /// ENTRY 8647v1 Variant NAME ABCB11 mutation GENE ABCB11 ATP binding cassette subfamily B member 11 [KO:K05664] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 603201 /// ENTRY 8659v1 Variant NAME ALDH4A1 deficiency GENE ALDH4A1 aldehyde dehydrogenase 4 family member A1 [KO:K00294] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 606811 NETWORK nt06033 Glycine, serine and arginine metabolism DISEASE H00190 Hyperprolinemia REFERENCE PMID:9700195 AUTHORS Geraghty MT, Vaughn D, Nicholson AJ, Lin WW, Jimenez-Sanchez G, Obie C, Flynn MP, Valle D, Hu CA TITLE Mutations in the Delta1-pyrroline 5-carboxylate dehydrogenase gene cause type II hyperprolinemia. JOURNAL Hum Mol Genet 7:1411-5 (1998) DOI:10.1093/hmg/7.9.1411 /// ENTRY 866v1 Variant NAME SERPINA6 mutation GENE SERPINA6 serpin family A member 6 [KO:K04525] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 122500 NETWORK nt06019 Steroid hormone biosynthesis DISEASE H01163 Corticosteroid-binding globulin (CBG) deficiency REFERENCE PMID:8212073 AUTHORS Van Baelen H, Power SG, Hammond GL TITLE Decreased cortisol-binding affinity of transcortin Leuven is associated with an amino acid substitution at residue-93. JOURNAL Steroids 58:275-7 (1993) DOI:10.1016/0039-128X(93)90072-U REFERENCE PMID:7061486 AUTHORS Van Baelen H, Brepoels R, De Moor P TITLE Transcortin Leuven: a variant of human corticosteroid-binding globulin with decreased cortisol-binding affinity. JOURNAL J Biol Chem 257:3397-400 (1982) REFERENCE PMID:12780753 AUTHORS Brunner E, Baima J, Vieira TC, Vieira JG, Abucham J TITLE Hereditary corticosteroid-binding globulin deficiency due to a missense mutation (Asp367Asn, CBG Lyon) in a Brazilian kindred. JOURNAL Clin Endocrinol (Oxf) 58:756-62 (2003) DOI:10.1046/j.1365-2265.2003.01783.x REFERENCE PMID:17245537 AUTHORS Buss C, Schuelter U, Hesse J, Moser D, Phillips DI, Hellhammer D, Meyer J TITLE Haploinsufficiency of the SERPINA6 gene is associated with severe muscle fatigue: A de novo mutation in corticosteroid-binding globulin deficiency. JOURNAL J Neural Transm (Vienna) 114:563-9 (2007) DOI:10.1007/s00702-006-0620-5 REFERENCE PMID:10634411 AUTHORS Emptoz-Bonneton A, Cousin P, Seguchi K, Avvakumov GV, Bully C, Hammond GL, Pugeat M TITLE Novel human corticosteroid-binding globulin variant with low cortisol-binding affinity. JOURNAL J Clin Endocrinol Metab 85:361-7 (2000) DOI:10.1210/jcem.85.1.6315 /// ENTRY 867v1 Variant NAME CBL mutation GENE CBL Cbl proto-oncogene [KO:K04707] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 165360 NETWORK nt06526 MAPK signaling DISEASE H02190 CBL syndrome H02541 Juvenile myelomonocytic leukemia REFERENCE PMID:36394128 AUTHORS Tartaglia M, Aoki Y, Gelb BD TITLE The molecular genetics of RASopathies: An update on novel disease genes and new disorders. JOURNAL Am J Med Genet C Semin Med Genet 190:425-439 (2022) DOI:10.1002/ajmg.c.32012 REFERENCE PMID:34175492 AUTHORS Riller Q, Rieux-Laucat F TITLE RASopathies: From germline mutations to somatic and multigenic diseases. JOURNAL Biomed J 44:422-432 (2021) DOI:10.1016/j.bj.2021.06.004 REFERENCE PMID:33796386 AUTHORS Gupta AK, Meena JP, Chopra A, Tanwar P, Seth R TITLE Juvenile myelomonocytic leukemia-A comprehensive review and recent advances in management. JOURNAL Am J Blood Res 11:1-21 (2021) /// ENTRY 8706v1 Variant NAME B3GALNT1 P+ allele GENE B3GALNT1 beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group) [KO:K00719] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION polymorphism OmimVar: 603094 NETWORK nt06035 Blood group carbohydrate antigen biosynthesis REFERENCE PMID:9582303 AUTHORS Amado M, Almeida R, Carneiro F, Levery SB, Holmes EH, Nomoto M, Hollingsworth MA, Hassan H, Schwientek T, Nielsen PA, Bennett EP, Clausen H TITLE A family of human beta3-galactosyltransferases. Characterization of four members of a UDP-galactose:beta-N-acetyl-glucosamine/beta-nacetyl-galactosamine beta-1,3-galactosyltransferase family. JOURNAL J Biol Chem 273:12770-8 (1998) DOI:10.1074/jbc.273.21.12770 REFERENCE PMID:10993897 AUTHORS Okajima T, Nakamura Y, Uchikawa M, Haslam DB, Numata SI, Furukawa K, Urano T, Furukawa K TITLE Expression cloning of human globoside synthase cDNAs. Identification of beta 3Gal-T3 as UDP-N-acetylgalactosamine:globotriaosylceramide beta 1,3-N-acetylgalactosaminyltransferase. JOURNAL J Biol Chem 275:40498-503 (2000) DOI:10.1074/jbc.M006902200 /// ENTRY 8706v2 Variant NAME B3GALNT1 P- allele GENE B3GALNT1 beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group) [KO:K00719] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION polymorphism OmimVar: 603094 NETWORK nt06035 Blood group carbohydrate antigen biosynthesis REFERENCE PMID:12023287 AUTHORS Hellberg A, Poole J, Olsson ML TITLE Molecular basis of the globoside-deficient P(k) blood group phenotype. Identification of four inactivating mutations in the UDP-N-acetylgalactosamine: globotriaosylceramide 3-beta-N-acetylgalactosaminyltransferase gene. JOURNAL J Biol Chem 277:29455-9 (2002) DOI:10.1074/jbc.M203047200 REFERENCE PMID:29873420 AUTHORS Ricci Hagman J, Hult AK, Westman JS, Hosseini-Maaf B, Jongruamklang P, Saipin J, Bejrachandra S, Olsson ML TITLE Multiple miscarriages in two sisters of Thai origin with the rare P(k) phenotype caused by a novel nonsense mutation at the B3GALNT1 locus. JOURNAL Transfus Med 29:202-208 (2019) DOI:10.1111/tme.12544 /// ENTRY 8726v1 Variant NAME EED mutation GENE EED embryonic ectoderm development [KO:K11462] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 605984 NETWORK nt06523 Epigenetic regulation by Polycomb complexes DISEASE H02477 Cohen-Gibson syndrome REFERENCE PMID:27868325 AUTHORS Cooney E, Bi W, Schlesinger AE, Vinson S, Potocki L TITLE Novel EED mutation in patient with Weaver syndrome. JOURNAL Am J Med Genet A 173:541-545 (2017) DOI:10.1002/ajmg.a.38055 /// ENTRY 8733v1 Variant NAME GPAA1 deficiency GENE GPAA1 glycosylphosphatidylinositol anchor attachment 1 [KO:K05289] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 603048 NETWORK nt06018 GPI-anchor biosynthesis DISEASE H01489 Inherited glycosylphosphatidylinositol deficiencies REFERENCE PMID:29100095 AUTHORS Nguyen TTM, Murakami Y, Sheridan E, Ehresmann S, Rousseau J, St-Denis A, Chai G, Ajeawung NF, Fairbrother L, Reimschisel T, Bateman A, Berry-Kravis E, Xia F, Tardif J, Parry DA, Logan CV, Diggle C, Bennett CP, Hattingh L, Rosenfeld JA, Perry MS, Parker MJ, Le Deist F, Zaki MS, Ignatius E, Isohanni P, Lonnqvist T, Carroll CJ, Johnson CA, Gleeson JG, Kinoshita T, Campeau PM TITLE Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia. JOURNAL Am J Hum Genet 101:856-865 (2017) DOI:10.1016/j.ajhg.2017.09.020 /// ENTRY 8737v1 Variant NAME RIPK1 mutation GENE RIPK1 receptor interacting serine/threonine kinase 1 [KO:K02861] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 603453 NETWORK nt06516 TNF signaling nt06527 Necroptosis DISEASE H02525 Disorders of innate immunity H02620 Autoinflammation with episodic fever and lymphadenopathy REFERENCE PMID:36380021 AUTHORS van Loo G, Bertrand MJM TITLE Death by TNF: a road to inflammation. JOURNAL Nat Rev Immunol 1-15 (2022) DOI:10.1038/s41577-022-00792-3 REFERENCE PMID:30026316 AUTHORS Cuchet-Lourenco D, Eletto D, Wu C, Plagnol V, Papapietro O, Curtis J, Ceron-Gutierrez L, Bacon CM, Hackett S, Alsaleem B, Maes M, Gaspar M, Alisaac A, Goss E, AlIdrissi E, Siegmund D, Wajant H, Kumararatne D, AlZahrani MS, Arkwright PD, Abinun M, Doffinger R, Nejentsev S TITLE Biallelic RIPK1 mutations in humans cause severe immunodeficiency, arthritis, and intestinal inflammation. JOURNAL Science 361:810-813 (2018) DOI:10.1126/science.aar2641 REFERENCE PMID:32671059 AUTHORS Webster JD, Vucic D TITLE The Balance of TNF Mediated Pathways Regulates Inflammatory Cell Death Signaling in Healthy and Diseased Tissues. JOURNAL Front Cell Dev Biol 8:365 (2020) DOI:10.3389/fcell.2020.00365 REFERENCE PMID:31827280 AUTHORS Tao P, Sun J, Wu Z, Wang S, Wang J, Li W, Pan H, Bai R, Zhang J, Wang Y, Lee PY, Ying W, Zhou Q, Hou J, Wang W, Sun B, Yang M, Liu D, Fang R, Han H, Yang Z, Huang X, Li H, Deuitch N, Zhang Y, Dissanayake D, Haude K, McWalter K, Roadhouse C, MacKenzie JJ, Laxer RM, Aksentijevich I, Yu X, Wang X, Yuan J, Zhou Q TITLE A dominant autoinflammatory disease caused by non-cleavable variants of RIPK1. JOURNAL Nature 577:109-114 (2020) DOI:10.1038/s41586-019-1830-y /// ENTRY 875v1 Variant NAME CBS deficiency GENE CBS cystathionine beta-synthase [KO:K01697] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 613381 NETWORK nt06030 Methionine metabolism DISEASE H00183 Homocystinuria REFERENCE PMID:7506602 AUTHORS Hu FL, Gu Z, Kozich V, Kraus JP, Ramesh V, Shih VE TITLE Molecular basis of cystathionine beta-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria. JOURNAL Hum Mol Genet 2:1857-60 (1993) DOI:10.1093/hmg/2.11.1857 /// ENTRY 8795v1 Variant NAME TNFRSF10B mutation GENE TNFRSF10B TNF receptor superfamily member 10b [KO:K04722] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 603612 NETWORK nt06524 Apoptosis nt06527 Necroptosis DISEASE H02610 Head and neck squamous cell carcinoma REFERENCE PMID:15766588 AUTHORS Adams J, Cuthbert-Heavens D, Bass S, Knowles MA TITLE Infrequent mutation of TRAIL receptor 2 (TRAIL-R2/DR5) in transitional cell carcinoma of the bladder with 8p21 loss of heterozygosity. JOURNAL Cancer Lett 220:137-44 (2005) DOI:10.1016/j.canlet.2004.06.052 REFERENCE PMID:9721851 AUTHORS Pai SI, Wu GS, Ozoren N, Wu L, Jen J, Sidransky D, El-Deiry WS TITLE Rare loss-of-function mutation of a death receptor gene in head and neck cancer. JOURNAL Cancer Res 58:3513-8 (1998) /// ENTRY 8813v1 Variant NAME DPM1 deficiency GENE DPM1 dolichyl-phosphate mannosyltransferase subunit 1, catalytic [KO:K00721] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 603503 NETWORK nt06015 N-Glycan biosynthesis DISEASE H00118 Congenital disorders of glycosylation type I REFERENCE PMID:10642597 AUTHORS Kim S, Westphal V, Srikrishna G, Mehta DP, Peterson S, Filiano J, Karnes PS, Patterson MC, Freeze HH TITLE Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie) JOURNAL J Clin Invest 105:191-8 (2000) DOI:10.1172/JCI7302 /// ENTRY 8815v1 Variant NAME BANF1 mutation GENE BANF1 BAF nuclear assembly factor 1 [KO:K21870] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutation A12T ClinVar: 30390 dbSNP: rs387906871 REFERENCE PMID:25495845 AUTHORS Paquet N, Box JK, Ashton NW, Suraweera A, Croft LV, Urquhart AJ, Bolderson E, Zhang SD, O'Byrne KJ, Richard DJ TITLE Nestor-Guillermo Progeria Syndrome: a biochemical insight into Barrier-to-Autointegration Factor 1, alanine 12 threonine mutation. JOURNAL BMC Mol Biol 15:27 (2014) DOI:10.1186/s12867-014-0027-z REFERENCE PMID:26072104 AUTHORS Jamin A, Wiebe MS TITLE Barrier to Autointegration Factor (BANF1): interwoven roles in nuclear structure, genome integrity, innate immunity, stress responses and progeria. JOURNAL Curr Opin Cell Biol 34:61-8 (2015) DOI:10.1016/j.ceb.2015.05.006 REFERENCE PMID:21932319 AUTHORS Cabanillas R, Cadinanos J, Villameytide JA, Perez M, Longo J, Richard JM, Alvarez R, Duran NS, Illan R, Gonzalez DJ, Lopez-Otin C TITLE Nestor-Guillermo progeria syndrome: a novel premature aging condition with early onset and chronic development caused by BANF1 mutations. JOURNAL Am J Med Genet A 155A:2617-25 (2011) DOI:10.1002/ajmg.a.34249 /// ENTRY 8818v1 Variant NAME DPM2 deficiency GENE DPM2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory [KO:K09658] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 603564 NETWORK nt06015 N-Glycan biosynthesis DISEASE H00118 Congenital disorders of glycosylation type I REFERENCE PMID:23109149 AUTHORS Barone R, Aiello C, Race V, Morava E, Foulquier F, Riemersma M, Passarelli C, Concolino D, Carella M, Santorelli F, Vleugels W, Mercuri E, Garozzo D, Sturiale L, Messina S, Jaeken J, Fiumara A, Wevers RA, Bertini E, Matthijs G, Lefeber DJ TITLE DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy. JOURNAL Ann Neurol 72:550-8 (2012) DOI:10.1002/ana.23632 /// ENTRY 8822v1 Variant NAME FGF17 mutation GENE FGF17 fibroblast growth factor 17 [KO:K04358] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 603725 NETWORK nt06361 Hypogonadotropic hypogonadism nt06526 MAPK signaling DISEASE H00255 Hypogonadotropic hypogonadism REFERENCE PMID:23643382 AUTHORS Miraoui H, Dwyer AA, Sykiotis GP, Plummer L, Chung W, Feng B, Beenken A, Clarke J, Pers TH, Dworzynski P, Keefe K, Niedziela M, Raivio T, Crowley WF Jr, Seminara SB, Quinton R, Hughes VA, Kumanov P, Young J, Yialamas MA, Hall JE, Van Vliet G, Chanoine JP, Rubenstein J, Mohammadi M, Tsai PS, Sidis Y, Lage K, Pitteloud N TITLE Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism. JOURNAL Am J Hum Genet 92:725-43 (2013) DOI:10.1016/j.ajhg.2013.04.008 /// ENTRY 8878v1 Variant NAME SQSTM1 mutation GENE SQSTM1 sequestosome 1 [KO:K14381] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 601530 NETWORK nt06464 Amyotrophic lateral sclerosis nt06466 Pathways of neurodegeneration nt06527 Necroptosis nt06532 Autophagy DISEASE H00058 Amyotrophic lateral sclerosis (ALS) H00437 Paget disease of bone H00594 Distal myopathy H02342 Frontotemporal dementia and amyotrophic lateral sclerosis REFERENCE PMID:29605155 AUTHORS Nguyen HP, Van Broeckhoven C, van der Zee J TITLE ALS Genes in the Genomic Era and their Implications for FTD. JOURNAL Trends Genet 34:404-423 (2018) DOI:10.1016/j.tig.2018.03.001 REFERENCE PMID:22084127 AUTHORS Fecto F, Yan J, Vemula SP, Liu E, Yang Y, Chen W, Zheng JG, Shi Y, Siddique N, Arrat H, Donkervoort S, Ajroud-Driss S, Sufit RL, Heller SL, Deng HX, Siddique T TITLE SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis. JOURNAL Arch Neurol 68:1440-6 (2011) DOI:10.1001/archneurol.2011.250 REFERENCE PMID:24042580 AUTHORS Le Ber I, Camuzat A, Guerreiro R, Bouya-Ahmed K, Bras J, Nicolas G, Gabelle A, Didic M, De Septenville A, Millecamps S, Lenglet T, Latouche M, Kabashi E, Campion D, Hannequin D, Hardy J, Brice A TITLE SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis. JOURNAL JAMA Neurol 70:1403-10 (2013) DOI:10.1001/jamaneurol.2013.3849 REFERENCE PMID:15765181 AUTHORS Cavey JR, Ralston SH, Hocking LJ, Sheppard PW, Ciani B, Searle MS, Layfield R TITLE Loss of ubiquitin-binding associated with Paget's disease of bone p62 (SQSTM1) mutations. JOURNAL J Bone Miner Res 20:619-24 (2005) DOI:10.1359/JBMR.041205 REFERENCE PMID:26208961 AUTHORS Bucelli RC, Arhzaouy K, Pestronk A, Pittman SK, Rojas L, Sue CM, Evila A, Hackman P, Udd B, Harms MB, Weihl CC TITLE SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles. JOURNAL Neurology 85:665-74 (2015) DOI:10.1212/WNL.0000000000001864 /// ENTRY 8912v1 Variant NAME CACNA1H mutation GENE CACNA1H calcium voltage-gated channel subunit alpha1 H [KO:K04855] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 607904 NETWORK nt06316 Renin-angiotensin-aldosterone signaling nt06528 Calcium signaling DISEASE H00808 Idiopathic generalized epilepsies H01603 Primary aldosteronism REFERENCE PMID:27485459 AUTHORS Dutta RK, Soderkvist P, Gimm O TITLE Genetics of primary hyperaldosteronism. JOURNAL Endocr Relat Cancer 23:R437-54 (2016) DOI:10.1530/ERC-16-0055 REFERENCE PMID:25907736 AUTHORS Scholl UI, Stolting G, Nelson-Williams C, Vichot AA, Choi M, Loring E, Prasad ML, Goh G, Carling T, Juhlin CC, Quack I, Rump LC, Thiel A, Lande M, Frazier BG, Rasoulpour M, Bowlin DL, Sethna CB, Trachtman H, Fahlke C, Lifton RP TITLE Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism. JOURNAL Elife 4:e06315 (2015) DOI:10.7554/eLife.06315 REFERENCE PMID:33985586 AUTHORS Kessi M, Chen B, Peng J, Yan F, Yang L, Yin F TITLE Calcium channelopathies and intellectual disability: a systematic review. JOURNAL Orphanet J Rare Dis 16:219 (2021) DOI:10.1186/s13023-021-01850-0 /// ENTRY 8913v1 Variant NAME CACNA1G mutation GENE CACNA1G calcium voltage-gated channel subunit alpha1 G [KO:K04854] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 604065 NETWORK nt06528 Calcium signaling DISEASE H00063 Spinocerebellar ataxia (SCA) REFERENCE PMID:29878067 AUTHORS Chemin J, Siquier-Pernet K, Nicouleau M, Barcia G, Ahmad A, Medina-Cano D, Hanein S, Altin N, Hubert L, Bole-Feysot C, Fourage C, Nitschke P, Thevenon J, Rio M, Blanc P, Vidal C, Bahi-Buisson N, Desguerre I, Munnich A, Lyonnet S, Boddaert N, Fassi E, Shinawi M, Zimmerman H, Amiel J, Faivre L, Colleaux L, Lory P, Cantagrel V TITLE De novo mutation screening in childhood-onset cerebellar atrophy identifies gain-of-function mutations in the CACNA1G calcium channel gene. JOURNAL Brain 141:1998-2013 (2018) DOI:10.1093/brain/awy145 REFERENCE PMID:31892274 AUTHORS Prestori F, Moccia F, D'Angelo E TITLE Disrupted Calcium Signaling in Animal Models of Human Spinocerebellar Ataxia (SCA). JOURNAL Int J Mol Sci 21:E216 (2019) DOI:10.3390/ijms21010216 /// ENTRY 8924v1 Variant NAME HERC2 mutation GENE HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 [KO:K10595] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 605837 NETWORK nt06506 Double-strand break repair DISEASE H00768 Autosomal recessive intellectual developmental disorder REFERENCE PMID:23243086 AUTHORS Harlalka GV, Baple EL, Cross H, Kuhnle S, Cubillos-Rojas M, Matentzoglu K, Patton MA, Wagner K, Coblentz R, Ford DL, Mackay DJ, Chioza BA, Scheffner M, Rosa JL, Crosby AH TITLE Mutation of HERC2 causes developmental delay with Angelman-like features. JOURNAL J Med Genet 50:65-73 (2013) DOI:10.1136/jmedgenet-2012-101367 REFERENCE PMID:22508508 AUTHORS Danielsen JR, Povlsen LK, Villumsen BH, Streicher W, Nilsson J, Wikstrom M, Bekker-Jensen S, Mailand N TITLE DNA damage-inducible SUMOylation of HERC2 promotes RNF8 binding via a novel SUMO-binding Zinc finger. JOURNAL J Cell Biol 197:179-87 (2012) DOI:10.1083/jcb.201106152 REFERENCE PMID:32571899 AUTHORS Elpidorou M, Best S, Poulter JA, Hartill V, Hobson E, Sheridan E, Johnson CA TITLE Novel loss-of-function mutation in HERC2 is associated with severe developmental delay and paediatric lethality. JOURNAL J Med Genet 58:334-341 (2021) DOI:10.1136/jmedgenet-2020-106873 /// ENTRY 8930v1 Variant NAME MBD4 mutation GENE MBD4 methyl-CpG binding domain 4, DNA glycosylase [KO:K10801] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 603574 NETWORK nt06504 Base excision repair DISEASE H02624 Tumor predisposition syndrome REFERENCE PMID:30049810 AUTHORS Sanders MA, Chew E, Flensburg C, Zeilemaker A, Miller SE, Al Hinai AS, Bajel A, Luiken B, Rijken M, Mclennan T, Hoogenboezem RM, Kavelaars FG, Frohling S, Blewitt ME, Bindels EM, Alexander WS, Lowenberg B, Roberts AW, Valk PJM, Majewski IJ TITLE MBD4 guards against methylation damage and germ line deficiency predisposes to clonal hematopoiesis and early-onset AML. JOURNAL Blood 132:1526-1534 (2018) DOI:10.1182/blood-2018-05-852566 /// ENTRY 8942v1 Variant NAME KYNU deficiency GENE KYNU kynureninase [KO:K01556] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 605197 NETWORK nt06036 Lysine degradation DISEASE H01583 Hydroxykynureninuria H02087 Vertebral, cardiac, renal, and limb defects syndrome REFERENCE PMID:28792876 AUTHORS Shi H, Enriquez A, Rapadas M, Martin EMMA, Wang R, Moreau J, Lim CK, Szot JO, Ip E, Hughes JN, Sugimoto K, Humphreys DT, McInerney-Leo AM, Leo PJ, Maghzal GJ, Halliday J, Smith J, Colley A, Mark PR, Collins F, Sillence DO, Winlaw DS, Ho JWK, Guillemin GJ, Brown MA, Kikuchi K, Thomas PQ, Stocker R, Giannoulatou E, Chapman G, Duncan EL, Sparrow DB, Dunwoodie SL TITLE NAD Deficiency, Congenital Malformations, and Niacin Supplementation. JOURNAL N Engl J Med 377:544-552 (2017) DOI:10.1056/NEJMoa1616361 /// ENTRY 898v1 Variant NAME CCNE amplification GENE CCNE1 cyclin E1 [KO:K06626] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION amplification ClinVar: 144406 57042 dbVar: nsv491973 nsv529270 NETWORK nt06230 Cell cycle nt06261 Gastric cancer DISEASE H00018 Gastric cancer REFERENCE PMID:26073375 AUTHORS Tan P, Yeoh KG TITLE Genetics and Molecular Pathogenesis of Gastric Adenocarcinoma. JOURNAL Gastroenterology 149:1153-1162.e3 (2015) DOI:10.1053/j.gastro.2015.05.059 REFERENCE PMID:18381231 AUTHORS Panani AD TITLE Cytogenetic and molecular aspects of gastric cancer: clinical implications. JOURNAL Cancer Lett 266:99-115 (2008) DOI:10.1016/j.canlet.2008.02.053 REFERENCE PMID:7559076 AUTHORS Akama Y, Yasui W, Yokozaki H, Kuniyasu H, Kitahara K, Ishikawa T, Tahara E TITLE Frequent amplification of the cyclin E gene in human gastric carcinomas. JOURNAL Jpn J Cancer Res 86:617-21 (1995) DOI:10.1111/j.1349-7006.1995.tb02442.x /// ENTRY 90268v1 Variant NAME OTULIN mutation GENE OTULIN OTU deubiquitinase with linear linkage specificity [KO:K18343] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 615712 NETWORK nt06516 TNF signaling DISEASE H02414 Autoinflammation, panniculitis, and dermatosis syndrome REFERENCE PMID:28722725 AUTHORS Manthiram K, Zhou Q, Aksentijevich I, Kastner DL TITLE The monogenic autoinflammatory diseases define new pathways in human innate immunity and inflammation. JOURNAL Nat Immunol 18:832-842 (2017) DOI:10.1038/ni.3777 REFERENCE PMID:28469620 AUTHORS Aksentijevich I, Zhou Q TITLE NF-kappaB Pathway in Autoinflammatory Diseases: Dysregulation of Protein Modifications by Ubiquitin Defines a New Category of Autoinflammatory Diseases. JOURNAL Front Immunol 8:399 (2017) DOI:10.3389/fimmu.2017.00399 /// ENTRY 90417v1 Variant NAME KNSTRN mutation GENE KNSTRN kinetochore localized astrin (SPAG5) binding protein [KO:K26097] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 614718 NETWORK nt06515 Regulation of kinetochore-microtubule interactions DISEASE H02585 Roifman-Chitayat syndrome REFERENCE PMID:19863561 AUTHORS Roifman CM, Chitayat D TITLE Combined immunodeficiency, facial dysmorphism, optic nerve atrophy, skeletal anomalies and developmental delay: a new syndrome. JOURNAL Clin Genet 76:449-57 (2009) DOI:10.1111/j.1399-0004.2009.01239.x /// ENTRY 9049v1 Variant NAME AIP mutation GENE AIP aryl hydrocarbon receptor interacting protein [KO:K17767] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutation K58N ClinVar: 41166 dbSNP: rs267606539 VARIATION mutation F269= ClinVar: 41209 dbSNP: rs139407567 VARIATION mutation R304Q ClinVar: 4893 dbSNP: rs104894190 VARIATION mutation Q14Ter ClinVar: 4886 dbSNP: rs104894194 VARIATION mutation Y268Ter ClinVar: 4892 dbSNP: rs121908356 NETWORK nt06360 Cushing syndrome DISEASE H01102 Pituitary adenomas H01431 Cushing syndrome REFERENCE PMID:20457215 AUTHORS Ozfirat Z, Korbonits M TITLE AIP gene and familial isolated pituitary adenomas. JOURNAL Mol Cell Endocrinol 326:71-9 (2010) DOI:10.1016/j.mce.2010.05.001 REFERENCE PMID:23371967 AUTHORS Beckers A, Aaltonen LA, Daly AF, Karhu A TITLE Familial isolated pituitary adenomas (FIPA) and the pituitary adenoma predisposition due to mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene. JOURNAL Endocr Rev 34:239-77 (2013) DOI:10.1210/er.2012-1013 /// ENTRY 9051v1 Variant NAME PSTPIP1 mutation GENE PSTPIP1 proline-serine-threonine phosphatase interacting protein 1 [KO:K12804] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 606347 NETWORK nt06521 NLR signaling DISEASE H00287 Pyogenic sterile arthritis, pyoderma gangrenosum, and acne syndrome REFERENCE PMID:34635190 AUTHORS Masumoto J, Zhou W, Morikawa S, Hosokawa S, Taguchi H, Yamamoto T, Kurata M, Kaneko N TITLE Molecular biology of autoinflammatory diseases. JOURNAL Inflamm Regen 41:33 (2021) DOI:10.1186/s41232-021-00181-8 REFERENCE PMID:28722725 AUTHORS Manthiram K, Zhou Q, Aksentijevich I, Kastner DL TITLE The monogenic autoinflammatory diseases define new pathways in human innate immunity and inflammation. JOURNAL Nat Immunol 18:832-842 (2017) DOI:10.1038/ni.3777 /// ENTRY 9091v1 Variant NAME PIGQ deficiency GENE PIGQ phosphatidylinositol glycan anchor biosynthesis class Q [KO:K03860] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 605754 NETWORK nt06018 GPI-anchor biosynthesis DISEASE H01486 Multiple congenital anomalies-hypotonia-seizures syndrome REFERENCE PMID:32588908 AUTHORS Johnstone DL, Nguyen TTM, Zambonin J, Kernohan KD, St-Denis A, Baratang NV, Hartley T, Geraghty MT, Richer J, Majewski J, Bareke E, Guerin A, Pendziwiat M, Pena LDM, Braakman HMH, Gripp KW, Edmondson AC, He M, Spillmann RC, Eklund EA, Bayat A, McMillan HJ, Boycott KM, Campeau PM TITLE Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature. JOURNAL J Inherit Metab Dis 43:1321-1332 (2020) DOI:10.1002/jimd.12278 /// ENTRY 90v1 Variant NAME ACVR1 mutation GENE ACVR1 activin A receptor type 1 [KO:K04675] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 102576 NETWORK nt06507 TGFB signaling DISEASE H00430 Fibrodysplasia ossificans progressiva REFERENCE PMID:33410098 AUTHORS Hildebrandt S, Kampfrath B, Fischer K, Hildebrand L, Haupt J, Stachelscheid H, Knaus P TITLE ActivinA Induced SMAD1/5 Signaling in an iPSC Derived EC Model of Fibrodysplasia Ossificans Progressiva (FOP) Can Be Rescued by the Drug Candidate Saracatinib. JOURNAL Stem Cell Rev Rep 17:1039-1052 (2021) DOI:10.1007/s12015-020-10103-9 /// ENTRY 9101v1 Variant NAME USP8 mutation GENE USP8 ubiquitin specific peptidase 8 [KO:K11839] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutation S718P ClinVar: 161992 dbSNP: rs672601307 VARIATION mutation S718C ClinVar: 161993 dbSNP: rs672601308 VARIATION mutation P720R ClinVar: 161995 dbSNP: rs672601311 NETWORK nt06310 CRH-ACTH-cortisol signaling nt06360 Cushing syndrome DISEASE H01102 Pituitary adenomas H01431 Cushing syndrome REFERENCE PMID:26012588 AUTHORS Theodoropoulou M, Reincke M, Fassnacht M, Komada M TITLE Decoding the genetic basis of Cushing's disease: USP8 in the spotlight. JOURNAL Eur J Endocrinol 173:M73-83 (2015) DOI:10.1530/EJE-15-0320 REFERENCE PMID:25485838 AUTHORS Reincke M, Sbiera S, Hayakawa A, Theodoropoulou M, Osswald A, Beuschlein F, Meitinger T, Mizuno-Yamasaki E, Kawaguchi K, Saeki Y, Tanaka K, Wieland T, Graf E, Saeger W, Ronchi CL, Allolio B, Buchfelder M, Strom TM, Fassnacht M, Komada M TITLE Mutations in the deubiquitinase gene USP8 cause Cushing's disease. JOURNAL Nat Genet 47:31-8 (2015) DOI:10.1038/ng.3166 /// ENTRY 9126v1 Variant NAME SMC3 mutation GENE SMC3 structural maintenance of chromosomes 3 [KO:K06669] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 606062 NETWORK nt06512 Chromosome cohesion and segregation DISEASE H00631 Cornelia de Lange syndrome REFERENCE PMID:25655089 AUTHORS Gil-Rodriguez MC, Deardorff MA, Ansari M, Tan CA, Parenti I, Baquero-Montoya C, Ousager LB, Puisac B, Hernandez-Marcos M, Teresa-Rodrigo ME, Marcos-Alcalde I, Wesselink JJ, Lusa-Bernal S, Bijlsma EK, Braunholz D, Bueno-Martinez I, Clark D, Cooper NS, Curry CJ, Fisher R, Fryer A, Ganesh J, Gervasini C, Gillessen-Kaesbach G, Guo Y, Hakonarson H, Hopkin RJ, Kaur M, Keating BJ, Kibaek M, Kinning E, Kleefstra T, Kline AD, Kuchinskaya E, Larizza L, Li YR, Liu X, Mariani M, Picker JD, Pie A, Pozojevic J, Queralt E, Richer J, Roeder E, Sinha A, Scott RH, So J, Wusik KA, Wilson L, Zhang J, Gomez-Puertas P, Casale CH, Strom L, Selicorni A, Ramos FJ, Jackson LG, Krantz ID, Das S, Hennekam RC, Kaiser FJ, FitzPatrick DR, Pie J TITLE De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes. JOURNAL Hum Mutat 36:454-62 (2015) DOI:10.1002/humu.22761 /// ENTRY 915v1 Variant NAME CD3D mutation GENE CD3D CD3 delta subunit of T-cell receptor complex [KO:K06450] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 186790 NETWORK nt06528 Calcium signaling DISEASE H00091 T-B+Severe combined immunodeficiency H00093 Combined immunodeficiency REFERENCE PMID:35091087 AUTHORS Latour S TITLE Inherited immunodeficiencies associated with proximal and distal defects in T cell receptor signaling and co-signaling. JOURNAL Biomed J 45:321-333 (2022) DOI:10.1016/j.bj.2022.01.013 /// ENTRY 91662v1 Variant NAME NLRP12 mutation GENE NLRP12 NLR family pyrin domain containing 12 [KO:K20865] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 609648 NETWORK nt06521 NLR signaling DISEASE H02159 Familial cold autoinflammatory syndrome REFERENCE PMID:34635190 AUTHORS Masumoto J, Zhou W, Morikawa S, Hosokawa S, Taguchi H, Yamamoto T, Kurata M, Kaneko N TITLE Molecular biology of autoinflammatory diseases. JOURNAL Inflamm Regen 41:33 (2021) DOI:10.1186/s41232-021-00181-8 REFERENCE PMID:35123508 AUTHORS Wang HF TITLE NLRP12-associated systemic autoinflammatory diseases in children. JOURNAL Pediatr Rheumatol Online J 20:9 (2022) DOI:10.1186/s12969-022-00669-8 /// ENTRY 916v1 Variant NAME CD3E mutation GENE CD3E CD3 epsilon subunit of T-cell receptor complex [KO:K06451] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 186830 NETWORK nt06528 Calcium signaling DISEASE H00091 T-B+Severe combined immunodeficiency H00093 Combined immunodeficiency REFERENCE PMID:35091087 AUTHORS Latour S TITLE Inherited immunodeficiencies associated with proximal and distal defects in T cell receptor signaling and co-signaling. JOURNAL Biomed J 45:321-333 (2022) DOI:10.1016/j.bj.2022.01.013 /// ENTRY 917v1 Variant NAME CD3G mutation GENE CD3G CD3 gamma subunit of T-cell receptor complex [KO:K06452] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 186740 NETWORK nt06528 Calcium signaling DISEASE H00091 T-B+Severe combined immunodeficiency H00093 Combined immunodeficiency REFERENCE PMID:35091087 AUTHORS Latour S TITLE Inherited immunodeficiencies associated with proximal and distal defects in T cell receptor signaling and co-signaling. JOURNAL Biomed J 45:321-333 (2022) DOI:10.1016/j.bj.2022.01.013 /// ENTRY 91869v1 Variant NAME RFT1 mutation GENE RFT1 RFT1 homolog [KO:K06316] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 611908 NETWORK nt06015 N-Glycan biosynthesis DISEASE H00118 Congenital disorders of glycosylation type I REFERENCE PMID:18313027 AUTHORS Haeuptle MA, Pujol FM, Neupert C, Winchester B, Kastaniotis AJ, Aebi M, Hennet T TITLE Human RFT1 deficiency leads to a disorder of N-linked glycosylation. JOURNAL Am J Hum Genet 82:600-6 (2008) DOI:10.1016/j.ajhg.2007.12.021 /// ENTRY 91942v1 Variant NAME NDUFAF2 mutation GENE NDUFAF2 NADH:ubiquinone oxidoreductase complex assembly factor 2 [KO:K18160] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 609653 NETWORK nt06529 Thermogenesis DISEASE H00473 Mitochondrial complex I deficiency REFERENCE PMID:18180188 AUTHORS Barghuti F, Elian K, Gomori JM, Shaag A, Edvardson S, Saada A, Elpeleg O TITLE The unique neuroradiology of complex I deficiency due to NDUFA12L defect. JOURNAL Mol Genet Metab 94:78-82 (2008) DOI:10.1016/j.ymgme.2007.11.013 /// ENTRY 919v1 Variant NAME CD247 mutation GENE CD247 CD247 molecule [KO:K06453] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 186780 NETWORK nt06528 Calcium signaling DISEASE H00091 T-B+Severe combined immunodeficiency H00093 Combined immunodeficiency REFERENCE PMID:35091087 AUTHORS Latour S TITLE Inherited immunodeficiencies associated with proximal and distal defects in T cell receptor signaling and co-signaling. JOURNAL Biomed J 45:321-333 (2022) DOI:10.1016/j.bj.2022.01.013 /// ENTRY 920v1 Variant NAME CD4 mutation GENE CD4 CD4 molecule [KO:K06454] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 186940 NETWORK nt06528 Calcium signaling DISEASE H02526 Disorders of adaptive immunity REFERENCE PMID:33471124 AUTHORS Lisco A, Ye P, Wong CS, Pei L, Hsu AP, Mace EM, Orange JS, Lage SL, Ward AJ, Migueles SA, Connors M, Anderson MV, Buckner CM, Moir S, Rupert A, Dulau-Florea A, Ogbogu P, Timberlake D, Notarangelo LD, Pittaluga S, Abraham RS, Sereti I TITLE Lost in Translation: Lack of CD4 Expression due to a Novel Genetic Defect. JOURNAL J Infect Dis 223:645-654 (2021) DOI:10.1093/infdis/jiab025 /// ENTRY 9210v1 Variant NAME BMP15 mutation GENE BMP15 bone morphogenetic protein 15 [KO:K05498] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 300247 NETWORK nt06507 TGFB signaling DISEASE H00599 Ovarian dysgenesis REFERENCE PMID:17826728 AUTHORS Ledig S, Ropke A, Haeusler G, Hinney B, Wieacker P TITLE BMP15 mutations in XX gonadal dysgenesis and premature ovarian failure. JOURNAL Am J Obstet Gynecol 198:84.e1-5 (2008) DOI:10.1016/j.ajog.2007.05.029 /// ENTRY 9215v1 Variant NAME LARGE1 deficiency GENE LARGE1 LARGE xylosyl- and glucuronyltransferase 1 [KO:K09668] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 603590 NETWORK nt06013 O-Glycan biosynthesis DISEASE H00120 Muscular dystrophy-dystroglycanopathy type A H01960 Muscular dystrophy-dystroglycanopathy type B REFERENCE PMID:19067344 AUTHORS Clement E, Mercuri E, Godfrey C, Smith J, Robb S, Kinali M, Straub V, Bushby K, Manzur A, Talim B, Cowan F, Quinlivan R, Klein A, Longman C, McWilliam R, Topaloglu H, Mein R, Abbs S, North K, Barkovich AJ, Rutherford M, Muntoni F TITLE Brain involvement in muscular dystrophies with defective dystroglycan glycosylation. JOURNAL Ann Neurol 64:573-82 (2008) DOI:10.1002/ana.21482 /// ENTRY 9217v1 Variant NAME VAPB mutation GENE VAPB VAMP associated protein B and C [KO:K10707] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 605704 NETWORK nt06464 Amyotrophic lateral sclerosis nt06466 Pathways of neurodegeneration nt06534 Unfolded protein response DISEASE H00058 Amyotrophic lateral sclerosis (ALS) REFERENCE PMID:28852382 AUTHORS Khalil B, Lievens JC TITLE Mitochondrial quality control in amyotrophic lateral sclerosis: towards a common pathway? JOURNAL Neural Regen Res 12:1052-1061 (2017) DOI:10.4103/1673-5374.211179 REFERENCE PMID:24681403 AUTHORS Vinay Kumar C, Kumar KM, Swetha R, Ramaiah S, Anbarasu A TITLE Protein aggregation due to nsSNP resulting in P56S VABP protein is associated with amyotrophic lateral sclerosis. JOURNAL J Theor Biol 354:72-80 (2014) DOI:10.1016/j.jtbi.2014.03.027 REFERENCE PMID:20940299 AUTHORS Chen HJ, Anagnostou G, Chai A, Withers J, Morris A, Adhikaree J, Pennetta G, de Belleroche JS TITLE Characterization of the properties of a novel mutation in VAPB in familial amyotrophic lateral sclerosis. JOURNAL J Biol Chem 285:40266-81 (2010) DOI:10.1074/jbc.M110.161398 /// ENTRY 92335v1 Variant NAME STRADA mutation GENE STRADA STE20 related adaptor alpha [KO:K08271] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 608626 NETWORK nt06522 mTOR signaling DISEASE H01112 Polyhydramnios, megalencephaly, and symptomatic epilepsy REFERENCE PMID:17522105 AUTHORS Puffenberger EG, Strauss KA, Ramsey KE, Craig DW, Stephan DA, Robinson DL, Hendrickson CL, Gottlieb S, Ramsay DA, Siu VM, Heuer GG, Crino PB, Morton DH TITLE Polyhydramnios, megalencephaly and symptomatic epilepsy caused by a homozygous 7-kilobase deletion in LYK5. JOURNAL Brain 130:1929-41 (2007) DOI:10.1093/brain/awm100 REFERENCE PMID:33605605 AUTHORS Aerden M, Vallaeys L, Holvoet M, De Waele L, Van Den Bogaert K, Devriendt K TITLE Homozygous missense STRADA mutation in a patient with polyhydramnios, megalencephaly and symptomatic epilepsy syndrome. JOURNAL Clin Dysmorphol 30:121-124 (2021) DOI:10.1097/MCD.0000000000000368 /// ENTRY 92345v1 Variant NAME NAF1 mutation GENE NAF1 nuclear assembly factor 1 ribonucleoprotein [KO:K14763] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 617868 NETWORK nt06510 Telomere length regulation DISEASE H02569 Pulmonary fibrosis and/or bone marrow failure, telomere-related REFERENCE PMID:27510903 AUTHORS Stanley SE, Gable DL, Wagner CL, Carlile TM, Hanumanthu VS, Podlevsky JD, Khalil SE, DeZern AE, Rojas-Duran MF, Applegate CD, Alder JK, Parry EM, Gilbert WV, Armanios M TITLE Loss-of-function mutations in the RNA biogenesis factor NAF1 predispose to pulmonary fibrosis-emphysema. JOURNAL Sci Transl Med 8:351ra107 (2016) DOI:10.1126/scitranslmed.aaf7837 /// ENTRY 9241v1 Variant NAME NOG mutation GENE NOG noggin [KO:K04658] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 602991 NETWORK nt06507 TGFB signaling DISEASE H00482 Brachydactyly H00484 Multiple synostosis syndrome H00778 Tarsal-carpal coalition syndrome H00851 Proximal symphalangism REFERENCE PMID:27563484 AUTHORS Wu M, Chen G, Li YP TITLE TGF-beta and BMP signaling in osteoblast, skeletal development, and bone formation, homeostasis and disease. JOURNAL Bone Res 4:16009 (2016) DOI:10.1038/boneres.2016.9 /// ENTRY 9247v1 Variant NAME GCM2 inactivating mutation GENE GCM2 glial cells missing transcription factor 2 [KO:K21598] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutation R47L ClinVar: 6091 dbSNP: rs104893959 VARIATION mutation I298Tfs ClinVar: 64623 dbSNP: rs886037646 VARIATION mutation G63S ClinVar: 6092 dbSNP: rs104893960 NETWORK nt06318 CaSR-PTH signaling DISEASE H01862 Hypoparathyroidism REFERENCE PMID:20190276 AUTHORS Bowl MR, Mirczuk SM, Grigorieva IV, Piret SE, Cranston T, Southam L, Allgrove J, Bahl S, Brain C, Loughlin J, Mughal Z, Ryan F, Shaw N, Thakker YV, Tiosano D, Nesbit MA, Thakker RV TITLE Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism. JOURNAL Hum Mol Genet 19:2028-38 (2010) DOI:10.1093/hmg/ddq084 REFERENCE PMID:16697534 AUTHORS Sticht H, Hashemolhosseini S TITLE A common structural mechanism underlying GCMB mutations that cause hypoparathyroidism. JOURNAL Med Hypotheses 67:482-7 (2006) DOI:10.1016/j.mehy.2006.01.062 /// ENTRY 9247v2 Variant NAME GCM2 activating mutation GENE GCM2 glial cells missing transcription factor 2 [KO:K21598] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutation Y394S ClinVar: 355008 dbSNP: rs142287570 VARIATION mutation Q251E ClinVar: 375590 dbSNP: rs1057519581 NETWORK nt06318 CaSR-PTH signaling DISEASE H00246 Primary hyperparathyroidism REFERENCE PMID:27745835 AUTHORS Guan B, Welch JM, Sapp JC, Ling H, Li Y, Johnston JJ, Kebebew E, Biesecker LG, Simonds WF, Marx SJ, Agarwal SK TITLE GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism. JOURNAL Am J Hum Genet 99:1034-1044 (2016) DOI:10.1016/j.ajhg.2016.08.018 REFERENCE PMID:29108698 AUTHORS El Lakis M, Nockel P, Guan B, Agarwal S, Welch J, Simonds WF, Marx S, Li Y, Nilubol N, Patel D, Yang L, Merkel R, Kebebew E TITLE Familial isolated primary hyperparathyroidism associated with germline GCM2 mutations is more aggressive and has a lesser rate of biochemical cure. JOURNAL Surgery 163:31-34 (2018) DOI:10.1016/j.surg.2017.04.027 /// ENTRY 930v1 Variant NAME CD19 mutation GENE CD19 CD19 molecule [KO:K06465] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 107265 NETWORK nt06530 PI3K signaling DISEASE H00088 Common variable immunodeficiency REFERENCE PMID:16672701 AUTHORS van Zelm MC, Reisli I, van der Burg M, Castano D, van Noesel CJ, van Tol MJ, Woellner C, Grimbacher B, Patino PJ, van Dongen JJ, Franco JL TITLE An antibody-deficiency syndrome due to mutations in the CD19 gene. JOURNAL N Engl J Med 354:1901-12 (2006) DOI:10.1056/NEJMoa051568 /// ENTRY 93183v1 Variant NAME PIGM deficiency GENE PIGM phosphatidylinositol glycan anchor biosynthesis class M [KO:K05284] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 610273 NETWORK nt06018 GPI-anchor biosynthesis DISEASE H01127 PIGM-congenital disorder of glycosylation REFERENCE PMID:16767100 AUTHORS Almeida AM, Murakami Y, Layton DM, Hillmen P, Sellick GS, Maeda Y, Richards S, Patterson S, Kotsianidis I, Mollica L, Crawford DH, Baker A, Ferguson M, Roberts I, Houlston R, Kinoshita T, Karadimitris A TITLE Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency. JOURNAL Nat Med 12:846-51 (2006) DOI:10.1038/nm1410 /// ENTRY 9319v1 Variant NAME TRIP13 mutation GENE TRIP13 thyroid hormone receptor interactor 13 [KO:K22399] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 604507 NETWORK nt06515 Regulation of kinetochore-microtubule interactions DISEASE H01288 Mosaic variegated aneuploidy syndrome REFERENCE PMID:28553959 AUTHORS Yost S, de Wolf B, Hanks S, Zachariou A, Marcozzi C, Clarke M, de Voer R, Etemad B, Uijttewaal E, Ramsay E, Wylie H, Elliott A, Picton S, Smith A, Smithson S, Seal S, Ruark E, Houge G, Pines J, Kops GJPL, Rahman N TITLE Biallelic TRIP13 mutations predispose to Wilms tumor and chromosome missegregation. JOURNAL Nat Genet 49:1148-1151 (2017) DOI:10.1038/ng.3883 REFERENCE PMID:32473092 AUTHORS Zhang Z, Li B, Fu J, Li R, Diao F, Li C, Chen B, Du J, Zhou Z, Mu J, Yan Z, Wu L, Liu S, Wang W, Zhao L, Dong J, He L, Liang X, Kuang Y, Sun X, Sang Q, Wang L TITLE Bi-allelic Missense Pathogenic Variants in TRIP13 Cause Female Infertility Characterized by Oocyte Maturation Arrest. JOURNAL Am J Hum Genet 107:15-23 (2020) DOI:10.1016/j.ajhg.2020.05.001 /// ENTRY 9342v1 Variant NAME SNAP29 mutation GENE SNAP29 synaptosome associated protein 29 [KO:K08509] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 604202 NETWORK nt06532 Autophagy DISEASE H00799 CEDNIK syndrome REFERENCE PMID:21073448 AUTHORS Fuchs-Telem D, Stewart H, Rapaport D, Nousbeck J, Gat A, Gini M, Lugassy Y, Emmert S, Eckl K, Hennies HC, Sarig O, Goldsher D, Meilik B, Ishida-Yamamoto A, Horowitz M, Sprecher E TITLE CEDNIK syndrome results from loss-of-function mutations in SNAP29. JOURNAL Br J Dermatol 164:610-6 (2011) DOI:10.1111/j.1365-2133.2010.10133.x REFERENCE PMID:31225470 AUTHORS Mastrodonato V, Morelli E, Vaccari T TITLE How to use a multipurpose SNARE: The emerging role of Snap29 in cellular health. JOURNAL Cell Stress 2:72-81 (2018) DOI:10.15698/cst2018.04.130 /// ENTRY 9377v1 Variant NAME COX5A mutation GENE COX5A cytochrome c oxidase subunit 5A [KO:K02264] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 603773 NETWORK nt06529 Thermogenesis DISEASE H01368 Cytochrome c oxidase (COX) deficiency REFERENCE PMID:28247525 AUTHORS Baertling F, Al-Murshedi F, Sanchez-Caballero L, Al-Senaidi K, Joshi NP, Venselaar H, van den Brand MA, Nijtmans LG, Rodenburg RJ TITLE Mutation in mitochondrial complex IV subunit COX5A causes pulmonary arterial hypertension, lactic acidemia, and failure to thrive. JOURNAL Hum Mutat 38:692-703 (2017) DOI:10.1002/humu.23210 /// ENTRY 9394v1 Variant NAME HS6ST1 mutation GENE HS6ST1 heparan sulfate 6-O-sulfotransferase 1 [KO:K02514] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 604846 NETWORK nt06029 Glycosaminoglycan biosynthesis DISEASE H00255 Hypogonadotropic hypogonadism REFERENCE PMID:21700882 AUTHORS Tornberg J, Sykiotis GP, Keefe K, Plummer L, Hoang X, Hall JE, Quinton R, Seminara SB, Hughes V, Van Vliet G, Van Uum S, Crowley WF, Habuchi H, Kimata K, Pitteloud N, Bulow HE TITLE Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism. JOURNAL Proc Natl Acad Sci U S A 108:11524-9 (2011) DOI:10.1073/pnas.1102284108 /// ENTRY 93v1 Variant NAME ACVR2B mutation GENE ACVR2B activin A receptor type 2B [KO:K13596] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 602730 NETWORK nt06507 TGFB signaling DISEASE H00632 Heterotaxy REFERENCE PMID:11376438 AUTHORS Kathiriya IS, Srivastava D TITLE Left-right asymmetry and cardiac looping: implications for cardiac development and congenital heart disease. JOURNAL Am J Med Genet 97:271-9 (2000) DOI:10.1002/1096-8628(200024)97:4<271::aid-ajmg1277>3.0.co;2-o /// ENTRY 94005v1 Variant NAME PIGS deficiency GENE PIGS phosphatidylinositol glycan anchor biosynthesis class S [KO:K05291] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 610271 NETWORK nt06018 GPI-anchor biosynthesis DISEASE H01489 Inherited glycosylphosphatidylinositol deficiencies REFERENCE PMID:30269814 AUTHORS Nguyen TTM, Murakami Y, Wigby KM, Baratang NV, Rousseau J, St-Denis A, Rosenfeld JA, Laniewski SC, Jones J, Iglesias AD, Jones MC, Masser-Frye D, Scheuerle AE, Perry DL, Taft RJ, Le Deist F, Thompson M, Kinoshita T, Campeau PM TITLE Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy. JOURNAL Am J Hum Genet 103:602-611 (2018) DOI:10.1016/j.ajhg.2018.08.014 /// ENTRY 9401v1 Variant NAME RECQL4 mutation GENE RECQL4 RecQ like helicase 4 [KO:K10730] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 603780 NETWORK nt06509 DNA replication DISEASE H00965 RAPADILINO syndrome H01734 Rothmund-Thomson syndrome H01993 Baller-Gerold syndrome REFERENCE PMID:15964893 AUTHORS Van Maldergem L, Siitonen HA, Jalkh N, Chouery E, De Roy M, Delague V, Muenke M, Jabs EW, Cai J, Wang LL, Plon SE, Fourneau C, Kestila M, Gillerot Y, Megarbane A, Verloes A TITLE Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene. JOURNAL J Med Genet 43:148-52 (2006) DOI:10.1136/jmg.2005.031781 REFERENCE PMID:15317757 AUTHORS Yin J, Kwon YT, Varshavsky A, Wang W TITLE RECQL4, mutated in the Rothmund-Thomson and RAPADILINO syndromes, interacts with ubiquitin ligases UBR1 and UBR2 of the N-end rule pathway. JOURNAL Hum Mol Genet 13:2421-30 (2004) DOI:10.1093/hmg/ddh269 /// ENTRY 9420v1 Variant NAME CYP7B1 deficiency GENE CYP7B1 cytochrome P450 family 7 subfamily B member 1 [KO:K07430] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 603711 NETWORK nt06022 Bile acid biosynthesis DISEASE H00628 Congenital bile acid synthesis defect REFERENCE PMID:18252231 AUTHORS Tsaousidou MK, Ouahchi K, Warner TT, Yang Y, Simpson MA, Laing NG, Wilkinson PA, Madrid RE, Patel H, Hentati F, Patton MA, Hentati A, Lamont PJ, Siddique T, Crosby AH TITLE Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration. JOURNAL Am J Hum Genet 82:510-5 (2008) DOI:10.1016/j.ajhg.2007.10.001 /// ENTRY 9469v1 Variant NAME CHST3 mutation GENE CHST3 carbohydrate sulfotransferase 3 [KO:K01020] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 603799 NETWORK nt06029 Glycosaminoglycan biosynthesis DISEASE H00762 Spondyloepiphyseal dysplasia with congenital joint dislocations REFERENCE PMID:18513679 AUTHORS Hermanns P, Unger S, Rossi A, Perez-Aytes A, Cortina H, Bonafe L, Boccone L, Setzu V, Dutoit M, Sangiorgi L, Pecora F, Reicherter K, Nishimura G, Spranger J, Zabel B, Superti-Furga A TITLE Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis. JOURNAL Am J Hum Genet 82:1368-74 (2008) DOI:10.1016/j.ajhg.2008.05.006 REFERENCE PMID:20830804 AUTHORS Unger S, Lausch E, Rossi A, Megarbane A, Sillence D, Alcausin M, Aytes A, Mendoza-Londono R, Nampoothiri S, Afroze B, Hall B, Lo IF, Lam ST, Hoefele J, Rost I, Wakeling E, Mangold E, Godbole K, Vatanavicharn N, Franco LM, Chandler K, Hollander S, Velten T, Reicherter K, Spranger J, Robertson S, Bonafe L, Zabel B, Superti-Furga A TITLE Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features. JOURNAL Am J Med Genet A 152A:2543-9 (2010) DOI:10.1002/ajmg.a.33641 /// ENTRY 9474v1 Variant NAME ATG5 mutation GENE ATG5 autophagy related 5 [KO:K08339] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 604261 NETWORK nt06532 Autophagy DISEASE H01891 Autosomal recessive spinocerebellar ataxias REFERENCE PMID:32087199 AUTHORS Zatyka M, Sarkar S, Barrett T TITLE Autophagy in Rare (NonLysosomal) Neurodegenerative Diseases. JOURNAL J Mol Biol 432:2735-2753 (2020) DOI:10.1016/j.jmb.2020.02.012 REFERENCE PMID:26812546 AUTHORS Kim M, Sandford E, Gatica D, Qiu Y, Liu X, Zheng Y, Schulman BA, Xu J, Semple I, Ro SH, Kim B, Mavioglu RN, Tolun A, Jipa A, Takats S, Karpati M, Li JZ, Yapici Z, Juhasz G, Lee JH, Klionsky DJ, Burmeister M TITLE Mutation in ATG5 reduces autophagy and leads to ataxia with developmental delay. JOURNAL Elife 5:e12245 (2016) DOI:10.7554/eLife.12245 /// ENTRY 9487v1 Variant NAME PIGL deficiency GENE PIGL phosphatidylinositol glycan anchor biosynthesis class L [KO:K03434] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 605947 NETWORK nt06018 GPI-anchor biosynthesis DISEASE H01487 CHIME syndrome REFERENCE PMID:22444671 AUTHORS Ng BG, Hackmann K, Jones MA, Eroshkin AM, He P, Wiliams R, Bhide S, Cantagrel V, Gleeson JG, Paller AS, Schnur RE, Tinschert S, Zunich J, Hegde MR, Freeze HH TITLE Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome. JOURNAL Am J Hum Genet 90:685-8 (2012) DOI:10.1016/j.ajhg.2012.02.010 /// ENTRY 9488v1 Variant NAME PIGB deficiency GENE PIGB phosphatidylinositol glycan anchor biosynthesis class B [KO:K05286] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 604122 NETWORK nt06018 GPI-anchor biosynthesis DISEASE H01489 Inherited glycosylphosphatidylinositol deficiencies REFERENCE PMID:31256876 AUTHORS Murakami Y, Nguyen TTM, Baratang N, Raju PK, Knaus A, Ellard S, Jones G, Lace B, Rousseau J, Ajeawung NF, Kamei A, Minase G, Akasaka M, Araya N, Koshimizu E, van den Ende J, Erger F, Altmuller J, Krumina Z, Strautmanis J, Inashkina I, Stavusis J, El-Gharbawy A, Sebastian J, Puri RD, Kulshrestha S, Verma IC, Maier EM, Haack TB, Israni A, Baptista J, Gunning A, Rosenfeld JA, Liu P, Joosten M, Rocha ME, Hashem MO, Aldhalaan HM, Alkuraya FS, Miyatake S, Matsumoto N, Krawitz PM, Rossignol E, Kinoshita T, Campeau PM TITLE Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases. JOURNAL Am J Hum Genet 105:384-394 (2019) DOI:10.1016/j.ajhg.2019.05.019 /// ENTRY 94v1 Variant NAME ACVRL1 mutation GENE ACVRL1 activin A receptor like type 1 [KO:K13594] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 601284 NETWORK nt06507 TGFB signaling DISEASE H00533 Hereditary hemorrhagic telangiectasia REFERENCE PMID:33167572 AUTHORS Bernabeu C, Bayrak-Toydemir P, McDonald J, Letarte M TITLE Potential Second-Hits in Hereditary Hemorrhagic Telangiectasia. JOURNAL J Clin Med 9:E3571 (2020) DOI:10.3390/jcm9113571 /// ENTRY 9563v1 Variant NAME H6PD mutation GENE H6PD hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase [KO:K13937] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 138090 NETWORK nt06019 Steroid hormone biosynthesis DISEASE H01111 Cortisone reductase deficiency REFERENCE PMID:19804362 AUTHORS Senesi S, Csala M, Marcolongo P, Fulceri R, Mandl J, Banhegyi G, Benedetti A TITLE Hexose-6-phosphate dehydrogenase in the endoplasmic reticulum. JOURNAL Biol Chem 391:1-8 (2010) DOI:10.1515/BC.2009.146 REFERENCE PMID:12858176 AUTHORS Draper N, Walker EA, Bujalska IJ, Tomlinson JW, Chalder SM, Arlt W, Lavery GG, Bedendo O, Ray DW, Laing I, Malunowicz E, White PC, Hewison M, Mason PJ, Connell JM, Shackleton CH, Stewart PM TITLE Mutations in the genes encoding 11beta-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency. JOURNAL Nat Genet 34:434-9 (2003) DOI:10.1038/ng1214 REFERENCE PMID:18628520 AUTHORS Lavery GG, Walker EA, Tiganescu A, Ride JP, Shackleton CH, Tomlinson JW, Connell JM, Ray DW, Biason-Lauber A, Malunowicz EM, Arlt W, Stewart PM TITLE Steroid biomarkers and genetic studies reveal inactivating mutations in hexose-6-phosphate dehydrogenase in patients with cortisone reductase deficiency. JOURNAL J Clin Endocrinol Metab 93:3827-32 (2008) DOI:10.1210/jc.2008-0743 REFERENCE PMID:21325058 AUTHORS Lawson AJ, Walker EA, Lavery GG, Bujalska IJ, Hughes B, Arlt W, Stewart PM, Ride JP TITLE Cortisone-reductase deficiency associated with heterozygous mutations in 11beta-hydroxysteroid dehydrogenase type 1. JOURNAL Proc Natl Acad Sci U S A 108:4111-6 (2011) DOI:10.1073/pnas.1014934108 /// ENTRY 966v1 Variant NAME CD59 mutation GENE CD59 CD59 molecule (CD59 blood group) [KO:K04008] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 107271 NETWORK nt06513 Complement cascade DISEASE H00106 Complement regulatory protein defects REFERENCE PMID:1382994 AUTHORS Motoyama N, Okada N, Yamashina M, Okada H TITLE Paroxysmal nocturnal hemoglobinuria due to hereditary nucleotide deletion in the HRF20 (CD59) gene. JOURNAL Eur J Immunol 22:2669-73 (1992) DOI:10.1002/eji.1830221029 /// ENTRY 9681v1 Variant NAME DEPDC5 mutation GENE DEPDC5 DEP domain containing 5, GATOR1 subcomplex subunit [KO:K20404] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 614191 NETWORK nt06522 mTOR signaling DISEASE H02214 Familial focal epilepsy with variable foci REFERENCE PMID:27173016 AUTHORS Weckhuysen S, Marsan E, Lambrecq V, Marchal C, Morin-Brureau M, An-Gourfinkel I, Baulac M, Fohlen M, Kallay Zetchi C, Seeck M, de la Grange P, Dermaut B, Meurs A, Thomas P, Chassoux F, Leguern E, Picard F, Baulac S TITLE Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia. JOURNAL Epilepsia 57:994-1003 (2016) DOI:10.1111/epi.13391 REFERENCE PMID:29359340 AUTHORS Marsan E, Baulac S TITLE Review: Mechanistic target of rapamycin (mTOR) pathway, focal cortical dysplasia and epilepsy. JOURNAL Neuropathol Appl Neurobiol 44:6-17 (2018) DOI:10.1111/nan.12463 /// ENTRY 9702v1 Variant NAME CEP57 mutation GENE CEP57 centrosomal protein 57 [KO:K16762] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 607951 NETWORK nt06515 Regulation of kinetochore-microtubule interactions DISEASE H01288 Mosaic variegated aneuploidy syndrome REFERENCE PMID:21552266 AUTHORS Snape K, Hanks S, Ruark E, Barros-Nunez P, Elliott A, Murray A, Lane AH, Shannon N, Callier P, Chitayat D, Clayton-Smith J, Fitzpatrick DR, Gisselsson D, Jacquemont S, Asakura-Hay K, Micale MA, Tolmie J, Turnpenny PD, Wright M, Douglas J, Rahman N TITLE Mutations in CEP57 cause mosaic variegated aneuploidy syndrome. JOURNAL Nat Genet 43:527-9 (2011) DOI:10.1038/ng.822 /// ENTRY 9711v1 Variant NAME RUBCN mutation GENE RUBCN rubicon autophagy regulator [KO:K19330] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 613516 NETWORK nt06532 Autophagy DISEASE H01891 Autosomal recessive spinocerebellar ataxias REFERENCE PMID:23728897 AUTHORS Assoum M, Salih MA, Drouot N, Hnia K, Martelli A, Koenig M TITLE The Salih ataxia mutation impairs Rubicon endosomal localization. JOURNAL Cerebellum 12:835-40 (2013) DOI:10.1007/s12311-013-0489-4 /// ENTRY 975v1 Variant NAME CD81 mutation GENE CD81 CD81 molecule [KO:K06508] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 186845 NETWORK nt06530 PI3K signaling DISEASE H00088 Common variable immunodeficiency REFERENCE PMID:20237408 AUTHORS van Zelm MC, Smet J, Adams B, Mascart F, Schandene L, Janssen F, Ferster A, Kuo CC, Levy S, van Dongen JJ, van der Burg M TITLE CD81 gene defect in humans disrupts CD19 complex formation and leads to antibody deficiency. JOURNAL J Clin Invest 120:1265-74 (2010) DOI:10.1172/JCI39748 /// ENTRY 9817v1 Variant NAME KEAP1 mutation GENE KEAP1 kelch like ECH associated protein 1 [KO:K10456] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutation D236Y COSM: 6196635 VARIATION mutation L342M COSM: 6196636 VARIATION mutation N183S COSM: 6196637 VARIATION mutation R336Q COSM: 6196638 NETWORK nt06226 KEAP1-NRF2 signaling nt06263 Hepatocellular carcinoma DISEASE H00048 Hepatocellular carcinoma REFERENCE PMID:22348534 AUTHORS Yoo NJ, Kim HR, Kim YR, An CH, Lee SH TITLE Somatic mutations of the KEAP1 gene in common solid cancers. JOURNAL Histopathology 60:943-52 (2012) DOI:10.1111/j.1365-2559.2012.04178.x /// ENTRY 9837v1 Variant NAME GINS1 mutation GENE GINS1 GINS complex subunit 1 [KO:K10732] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 610608 NETWORK nt06509 DNA replication DISEASE H00093 Combined immunodeficiency REFERENCE PMID:28414293 AUTHORS Cottineau J, Kottemann MC, Lach FP, Kang YH, Vely F, Deenick EK, Lazarov T, Gineau L, Wang Y, Farina A, Chansel M, Lorenzo L, Piperoglou C, Ma CS, Nitschke P, Belkadi A, Itan Y, Boisson B, Jabot-Hanin F, Picard C, Bustamante J, Eidenschenk C, Boucherit S, Aladjidi N, Lacombe D, Barat P, Qasim W, Hurst JA, Pollard AJ, Uhlig HH, Fieschi C, Michon J, Bermudez VP, Abel L, de Villartay JP, Geissmann F, Tangye SG, Hurwitz J, Vivier E, Casanova JL, Smogorzewska A, Jouanguy E TITLE Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency. JOURNAL J Clin Invest 127:1991-2006 (2017) DOI:10.1172/JCI90727 /// ENTRY 9895v1 Variant NAME TECPR2 mutation GENE TECPR2 tectonin beta-propeller repeat containing 2 [KO:K23881] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 615000 NETWORK nt06532 Autophagy DISEASE H00265 Hereditary sensory and autonomic neuropathy REFERENCE PMID:28553203 AUTHORS Haidar M, Timmerman V TITLE Autophagy as an Emerging Common Pathomechanism in Inherited Peripheral Neuropathies. JOURNAL Front Mol Neurosci 10:143 (2017) DOI:10.3389/fnmol.2017.00143 /// ENTRY 990v1 Variant NAME CDC6 mutation GENE CDC6 cell division cycle 6 [KO:K02213] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 602627 NETWORK nt06509 DNA replication DISEASE H01889 Meier-Gorlin syndrome REFERENCE PMID:21358632 AUTHORS Bicknell LS, Bongers EM, Leitch A, Brown S, Schoots J, Harley ME, Aftimos S, Al-Aama JY, Bober M, Brown PA, van Bokhoven H, Dean J, Edrees AY, Feingold M, Fryer A, Hoefsloot LH, Kau N, Knoers NV, Mackenzie J, Opitz JM, Sarda P, Ross A, Temple IK, Toutain A, Wise CA, Wright M, Jackson AP TITLE Mutations in the pre-replication complex cause Meier-Gorlin syndrome. JOURNAL Nat Genet 43:356-9 (2011) DOI:10.1038/ng.775 /// ENTRY 9918v1 Variant NAME NCAPD2 mutation GENE NCAPD2 non-SMC condensin I complex subunit D2 [KO:K06677] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 615638 NETWORK nt06512 Chromosome cohesion and segregation DISEASE H00269 Primary microcephaly REFERENCE PMID:27737959 AUTHORS Martin CA, Murray JE, Carroll P, Leitch A, Mackenzie KJ, Halachev M, Fetit AE, Keith C, Bicknell LS, Fluteau A, Gautier P, Hall EA, Joss S, Soares G, Silva J, Bober MB, Duker A, Wise CA, Quigley AJ, Phadke SR, Wood AJ, Vagnarelli P, Jackson AP TITLE Mutations in genes encoding condensin complex proteins cause microcephaly through decatenation failure at mitosis. JOURNAL Genes Dev 30:2158-2172 (2016) DOI:10.1101/gad.286351.116 /// ENTRY 999v1 Variant NAME CDH1 reduced expression GENE CDH1 cadherin 1 [KO:K05689] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION reduced expression NETWORK nt06215 WNT signaling nt06274 Thyroid cancer DISEASE H00032 Thyroid cancer REFERENCE PMID:11940201 AUTHORS Kato N, Tsuchiya T, Tamura G, Motoyama T TITLE E-cadherin expression in follicular carcinoma of the thyroid. JOURNAL Pathol Int 52:13-8 (2002) DOI:10.1046/j.1440-1827.2002.01310.x REFERENCE PMID:12786894 AUTHORS Rocha AS, Soares P, Fonseca E, Cameselle-Teijeiro J, Oliveira MC, Sobrinho-Simoes M TITLE E-cadherin loss rather than beta-catenin alterations is a common feature of poorly differentiated thyroid carcinomas. JOURNAL Histopathology 42:580-7 (2003) DOI:10.1046/j.1365-2559.2003.01642.x REFERENCE PMID:11439369 AUTHORS Rocha AS, Soares P, Seruca R, Maximo V, Matias-Guiu X, Cameselle-Teijeiro J, Sobrinho-Simoes M TITLE Abnormalities of the E-cadherin/catenin adhesion complex in classical papillary thyroid carcinoma and in its diffuse sclerosing variant. JOURNAL J Pathol 194:358-66 (2001) DOI:10.1002/path.905 REFERENCE PMID:8985087 AUTHORS Soares P, Berx G, van Roy F, Sobrinho-Simoes M TITLE E-cadherin gene alterations are rare events in thyroid tumors. JOURNAL Int J Cancer 70:32-8 (1997) DOI:10.1002/(SICI)1097-0215(19970106)70:1<32::AID-IJC5>3.0.CO;2-7 /// ENTRY 999v2 Variant NAME CDH1 mutation GENE CDH1 cadherin 1 [KO:K05689] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutation N256S COSM: 4766182 VARIATION mutation D257N COSM: 1379150 VARIATION mutation V252G COSM: 4766211 VARIATION mutation D221G COSM: 4766271 NETWORK nt06215 WNT signaling nt06261 Gastric cancer DISEASE H00018 Gastric cancer REFERENCE PMID:24690483 AUTHORS Lee YS, Cho YS, Lee GK, Lee S, Kim YW, Jho S, Kim HM, Hong SH, Hwang JA, Kim SY, Hong D, Choi IJ, Kim BC, Kim BC, Kim CH, Choi H, Kim Y, Kim KW, Kong G, Kim HL, Bhak J, Lee SH, Lee JS TITLE Genomic profile analysis of diffuse-type gastric cancers. JOURNAL Genome Biol 15:R55 (2014) DOI:10.1186/gb-2014-15-4-r55 /// ENTRY 999v3 Variant NAME CDH1 loss GENE CDH1 cadherin 1 [KO:K05689] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION Allelic loss on 16q NETWORK nt06215 WNT signaling nt06261 Gastric cancer DISEASE H00018 Gastric cancer REFERENCE PMID:24690483 AUTHORS Lee YS, Cho YS, Lee GK, Lee S, Kim YW, Jho S, Kim HM, Hong SH, Hwang JA, Kim SY, Hong D, Choi IJ, Kim BC, Kim BC, Kim CH, Choi H, Kim Y, Kim KW, Kong G, Kim HL, Bhak J, Lee SH, Lee JS TITLE Genomic profile analysis of diffuse-type gastric cancers. JOURNAL Genome Biol 15:R55 (2014) DOI:10.1186/gb-2014-15-4-r55 REFERENCE PMID:8127895 AUTHORS Oda T, Kanai Y, Oyama T, Yoshiura K, Shimoyama Y, Birchmeier W, Sugimura T, Hirohashi S TITLE E-cadherin gene mutations in human gastric carcinoma cell lines. JOURNAL Proc Natl Acad Sci U S A 91:1858-62 (1994) DOI:10.1073/pnas.91.5.1858 REFERENCE PMID:11598162 AUTHORS Ascano JJ, Frierson H Jr, Moskaluk CA, Harper JC, Roviello F, Jackson CE, El-Rifai W, Vindigni C, Tosi P, Powell SM TITLE Inactivation of the E-cadherin gene in sporadic diffuse-type gastric cancer. JOURNAL Mod Pathol 14:942-9 (2001) DOI:10.1038/modpathol.3880416 /// ENTRY 999v4 Variant NAME CDH1 mutation GENE CDH1 cadherin 1 [KO:K05689] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION mutations OmimVar: 192090 REFERENCE PMID:8075649 AUTHORS Risinger JI, Berchuck A, Kohler MF, Boyd J TITLE Mutations of the E-cadherin gene in human gynecologic cancers. JOURNAL Nat Genet 7:98-102 (1994) DOI:10.1038/ng0594-98 REFERENCE PMID:9537325 AUTHORS Guilford P, Hopkins J, Harraway J, McLeod M, McLeod N, Harawira P, Taite H, Scoular R, Miller A, Reeve AE TITLE E-cadherin germline mutations in familial gastric cancer. JOURNAL Nature 392:402-5 (1998) DOI:10.1038/32918 /// ENTRY 9v1 Variant NAME NAT1 polymorphism for poor drug metabolism GENE NAT1 N-acetyltransferase 1 [KO:K00622] ORGANISM hsa_var Human gene variants (Homo sapiens) VARIATION *14 mutation R187Q dbSNP: rs4986782 VARIATION *17 mutation R84W ClinVar: 723 dbSNP: rs1801280 REFERENCE PMID:10780274 AUTHORS Jourenkova-Mironova N, Wikman H, Bouchardy C, Mitrunen K, Dayer P, Benhamou S, Hirvonen A TITLE Role of arylamine N-acetyltransferase 1 and 2 (NAT1 and NAT2) genotypes in susceptibility to oral/pharyngeal and laryngeal cancers. JOURNAL Pharmacogenetics 9:533-7 (1999) ///