Dentro de los servicios qGenEx, los paneles de exoma dirigido permiten restringir el estudio a un grupo de genes concreto según especialidad.
qGenEx EP analiza 578 genes asociados a enfermedades de la piel usando secuenciación de exoma completo mediante NGS.
Utiliza el buscador para encontrar el grupo de genes relacionados con la patología que te interesa incluidos en el panel:
Gene | Median coverage | % covered > 10x | % covered > 20x | Associated Phenotype description and OMIM disease ID | |
---|---|---|---|---|---|
AAAS | 108 | 1 | 0.99 | Achalasia-addisonianism-alacrimia syndrome, | 231550 |
AAGAB | 166.9 | 0.99 | 0.97 | Keratoderma, palmoplantar, punctate type IA, | 148600 |
ABCA12 | 163 | 0.99 | 0.97 | Ichthyosis, autosomal recessive 4B (harlequin), | 242500 |
ABCA12 | 163 | 0.99 | 0.97 | Ichthyosis, congenital, autosomal recessive 4A, | 601277 |
ABCB6 | 136.3 | 0.99 | 0.99 | Dyschromatosis universalis hereditaria 3 | 615402 |
ABCB6 | 136.3 | 0.99 | 0.99 | Microphthalmia, isolated, with coloboma 7 | 614497 |
ABCB6 | 136.3 | 0.99 | 0.99 | Pseudohyperkalemia, familial, 2 due to red cell leak, | 609153 |
ABCB6 | 136.3 | 0.99 | 0.99 | [Blood group, Langereis system], | 111600 |
ABCC6 | 113.8 | 0.93 | 0.92 | Arterial calcification, generalized, of infancy, 2 | 614473 |
ABCC6 | 113.8 | 0.93 | 0.92 | Pseudoxanthoma elasticum, | 264800 |
ABCC6 | 113.8 | 0.93 | 0.92 | Pseudoxanthoma elasticum, forme fruste, | 177850 |
ABCC9 | 177.1 | 1 | 0.99 | Atrial fibrillation, familial, 12 | 614050 |
ABCC9 | 177.1 | 1 | 0.99 | Cardiomyopathy, dilated, 1O, | 608569 |
ABCC9 | 177.1 | 1 | 0.99 | Hypertrichotic osteochondrodysplasia, | 239850 |
ABHD5 | 265.7 | 0.99 | 0.99 | Chanarin-Dorfman syndrome, | 275630 |
ACTA2 | 166.5 | 1 | 0.99 | Aortic aneurysm, familial thoracic 6 | 611788 |
ACTA2 | 166.5 | 1 | 0.99 | Moyamoya disease 5 | 614042 |
ACTA2 | 166.5 | 1 | 0.99 | Multisystemic smooth muscle dysfunction syndrome, | 613834 |
ACTB | 134.1 | 0.98 | 0.93 | Baraitser-Winter syndrome 1 | 243310 |
ACTB | 134.1 | 0.98 | 0.93 | ?Dystonia, juvenile-onset, | 607371 |
ACVRL1 | 138 | 0.99 | 0.98 | Telangiectasia, hereditary hemorrhagic, type 2 | 600376 |
ADAM10 | 154.1 | 0.99 | 0.97 | Reticulate acropigmentation of Kitamura, | 615537 |
ADAM10 | 154.1 | 0.99 | 0.97 | {Alzheimer disease 18 susceptibility to}, | 615590 |
ADAM17 | 140.9 | 0.97 | 0.93 | ?Inflammatory skin and bowel disease, neonatal, 1 | 614328 |
ADAMTS10 | 118.7 | 0.99 | 0.99 | Weill-Marchesani syndrome 1 recessive, | 277600 |
ADAMTS17 | 134.9 | 0.9 | 0.87 | Weill-Marchesani-like syndrome, | 613195 |
ADAMTS2 | 136.3 | 0.99 | 0.98 | Ehlers-Danlos syndrome, type VIIC, | 225410 |
ADAR | 131.7 | 1 | 0.99 | Aicardi-Goutieres syndrome 6 | 615010 |
ADAR | 131.7 | 1 | 0.99 | Dyschromatosis symmetrica hereditaria, | 127400 |
AGA | 154.1 | 1 | 1 | Aspartylglucosaminuria, | 208400 |
AGPAT2 | 120.1 | 0.98 | 0.92 | Lipodystrophy, congenital generalized, type 1 | 608594 |
AIRE | 83.3 | 0.99 | 0.93 | Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, | 608594 |
AIRE | 83.3 | 0.99 | 0.93 | Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, | 240300 |
AKT1 | 182.3 | 1 | 0.99 | Breast cancer, somatic, | 114480 |
AKT1 | 182.3 | 1 | 0.99 | Colorectal cancer, somatic, | 114500 |
AKT1 | 182.3 | 1 | 0.99 | Cowden syndrome 6 | 615109 |
AKT1 | 182.3 | 1 | 0.99 | Ovarian cancer, somatic, | 167000 |
AKT1 | 182.3 | 1 | 0.99 | Proteus syndrome, somatic, | 176920 |
AKT1 | 182.3 | 1 | 0.99 | {Schizophrenia, susceptibility to}, | 181500 |
AKT3 | 83.7 | 0.97 | 0.89 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | 615937 |
ALAD | 115 | 1 | 0.99 | Porphyria, acute hepatic, | 612740 |
ALAD | 115 | 1 | 0.99 | {Lead poisoning, susceptibility to}, | 612740 |
ALAS2 | 107.4 | 0.99 | 0.96 | Anemia, sideroblastic, 1 | 300751 |
ALAS2 | 107.4 | 0.99 | 0.96 | Protoporphyria, erythropoietic, X-linked, | 300752 |
ALDH18A1 | 143 | 1 | 0.99 | Cutis laxa, autosomal dominant 3 | 616603 |
ALDH18A1 | 143 | 1 | 0.99 | Cutis laxa, autosomal recessive, type IIIA, | 219150 |
ALDH18A1 | 143 | 1 | 0.99 | Spastic paraplegia 9A, autosomal dominant, | 601162 |
ALDH18A1 | 143 | 1 | 0.99 | Spastic paraplegia 9B, autosomal recessive, | 616586 |
ALDH3A2 | 157.4 | 1 | 0.99 | Sjogren-Larsson syndrome, | 270200 |
ALDOB | 174.3 | 0.99 | 0.98 | Fructose intolerance, | 229600 |
ALOX12B | 148.4 | 0.99 | 0.99 | Ichthyosis, congenital, autosomal recessive 2 | 242100 |
ALOXE3 | 145.8 | 1 | 0.99 | Ichthyosis, congenital, autosomal recessive 3 | 606545 |
ALPL | 163.1 | 1 | 1 | Hypophosphatasia, adult, | 146300 |
ALPL | 163.1 | 1 | 1 | Hypophosphatasia, childhood, | 241510 |
ALPL | 163.1 | 1 | 1 | Hypophosphatasia, infantile, | 241500 |
ALPL | 163.1 | 1 | 1 | Odontohypophosphatasia, | 146300 |
ALX4 | 132.6 | 0.96 | 0.89 | Frontonasal dysplasia 2 | 613451 |
ALX4 | 132.6 | 0.96 | 0.89 | Parietal foramina 2 | 609597 |
ALX4 | 132.6 | 0.96 | 0.89 | {Craniosynostosis 5 susceptibility to}, | 615529 |
AMELX | 95.2 | 0.99 | 0.96 | Amelogenesis imperfecta, type 1E, | 301200 |
ANKRD11 | 107.9 | 0.97 | 0.93 | KBG syndrome, | 148050 |
ANTXR1 | 141.9 | 0.98 | 0.96 | GAPO syndrome, | 230740 |
ANTXR1 | 141.9 | 0.98 | 0.96 | {Hemangioma, capillary infantile, susceptibility to}, | 602089 |
ANTXR2 | 97.9 | 0.97 | 0.91 | Hyaline fibromatosis syndrome, | 228600 |
AP1S3 | 120 | 0.9 | 0.9 | {Psoriasis 15 pustular, susceptibility to}, | 616106 |
AP3B1 | 111.5 | 0.97 | 0.91 | Hermansky-Pudlak syndrome 2 | 608233 |
APC | 175.4 | 0.99 | 0.98 | Adenoma, periampullary, somatic | 608233 |
APC | 175.4 | 0.99 | 0.98 | Adenomatous polyposis coli, | 175100 |
APC | 175.4 | 0.99 | 0.98 | Brain tumor-polyposis syndrome 2 | 175100 |
APC | 175.4 | 0.99 | 0.98 | Colorectal cancer, somatic, | 114500 |
APC | 175.4 | 0.99 | 0.98 | Desmoid disease, hereditary, | 135290 |
APC | 175.4 | 0.99 | 0.98 | Gardner syndrome, | 175100 |
APC | 175.4 | 0.99 | 0.98 | Gastric cancer, somatic, | 613659 |
APC | 175.4 | 0.99 | 0.98 | Hepatoblastoma, somatic, | 114550 |
APCDD1 | 183.5 | 0.99 | 0.97 | Hypotrichosis 1 | 605389 |
AQP5 | 116.5 | 0.99 | 0.96 | Palmoplantar keratoderma, Bothnian type, | 600231 |
ARHGAP31 | 128.3 | 0.99 | 0.98 | Adams-Oliver syndrome 1 | 100300 |
ARID1A | 155.1 | 0.95 | 0.9 | Coffin-Siris syndrome 2 | 614607 |
ARID1B | 157 | 0.95 | 0.9 | Coffin-Siris syndrome 1 | 135900 |
ASIP | 114.2 | 1 | 0.99 | [Skin/hair/eye pigmentation 9 brown/nonbrown eyes], | 611742 |
ASIP | 114.2 | 1 | 0.99 | [Skin/hair/eye pigmentation 9 dark/light hair], | 611742 |
ASL | 118.4 | 0.99 | 0.98 | Argininosuccinic aciduria, | 207900 |
ASXL1 | 168.4 | 0.99 | 0.98 | Bohring-Opitz syndrome, | 605039 |
ASXL1 | 168.4 | 0.99 | 0.98 | Myelodysplastic syndrome, somatic, | 614286 |
ASXL3 | 178.5 | 0.99 | 0.99 | Bainbridge-Ropers syndrome, | 615485 |
ATIC | 134.7 | 0.99 | 0.98 | AICA-ribosiduria due to ATIC deficiency, | 608688 |
ATP2A2 | 197.2 | 1 | 0.99 | Acrokeratosis verruciformis, | 101900 |
ATP2A2 | 197.2 | 1 | 0.99 | Darier disease, | 124200 |
ATP2C1 | 135.5 | 0.99 | 0.98 | Hailey-Hailey disease, | 169600 |
ATP6V0A2 | 159.8 | 1 | 0.99 | Cutis laxa, autosomal recessive, type IIA, | 219200 |
ATP6V0A2 | 159.8 | 1 | 0.99 | Wrinkly skin syndrome, | 278250 |
ATP7A | 157.3 | 0.99 | 0.97 | Menkes disease, | 309400 |
ATP7A | 157.3 | 0.99 | 0.97 | Occipital horn syndrome, | 304150 |
ATP7A | 157.3 | 0.99 | 0.97 | Spinal muscular atrophy, distal, X-linked 3 | 300489 |
ATR | 160.3 | 0.98 | 0.96 | Seckel syndrome 1 | 210600 |
ATR | 160.3 | 0.98 | 0.96 | ?Cutaneous telangiectasia and cancer syndrome, familial, | 614564 |
AXIN2 | 133.3 | 1 | 0.99 | Colorectal cancer, somatic, | 114500 |
AXIN2 | 133.3 | 1 | 0.99 | Oligodontia-colorectal cancer syndrome, | 608615 |
B3GALT6 | 54 | 0.76 | 0.71 | Ehlers-Danlos syndrome, progeroid type, 2 | 615349 |
B3GALT6 | 54 | 0.76 | 0.71 | Spondyloepimetaphyseal dysplasia with joint laxity, type 1 with or without fractures, | 271640 |
B4GALT7 | 116.3 | 0.96 | 0.95 | Ehlers-Danlos syndrome with short stature and limb anomalies, | 130070 |
BANF1 | 72.4 | 0.99 | 0.96 | Nestor-Guillermo progeria syndrome, | 614008 |
BAP1 | 154.2 | 0.99 | 0.98 | Tumor predisposition syndrome, | 614327 |
BCOR | 131.4 | 0.99 | 0.97 | Microphthalmia, syndromic 2 | 300166 |
BCS1L | 184.4 | 1 | 1 | Bjornstad syndrome, | 262000 |
BCS1L | 184.4 | 1 | 1 | GRACILE syndrome, | 603358 |
BCS1L | 184.4 | 1 | 1 | Leigh syndrome, | 256000 |
BCS1L | 184.4 | 1 | 1 | Mitochondrial complex III deficiency, nuclear type 1 | 124000 |
BLM | 139.6 | 0.98 | 0.95 | Bloom syndrome, | 210900 |
BLOC1S3 | 51.7 | 0.97 | 0.9 | Hermansky-Pudlak syndrome 8 | 614077 |
BLOC1S6 | 106.6 | 0.98 | 0.92 | Hermansky-pudlak syndrome 9 | 614171 |
BMS1 | 94.2 | 0.66 | 0.64 | ?Aplasia cutis congenita, nonsyndromic, | 107600 |
BRAF | 77 | 0.89 | 0.79 | Adenocarcinoma of lung, somatic, | 211980 |
BRAF | 77 | 0.89 | 0.79 | Cardiofaciocutaneous syndrome, | 115150 |
BRAF | 77 | 0.89 | 0.79 | Colorectal cancer, somatic | 115150 |
BRAF | 77 | 0.89 | 0.79 | LEOPARD syndrome 3 | 613707 |
BRAF | 77 | 0.89 | 0.79 | Melanoma, malignant, somatic | 613707 |
BRAF | 77 | 0.89 | 0.79 | Nonsmall cell lung cancer, somatic | 613707 |
BRAF | 77 | 0.89 | 0.79 | Noonan syndrome 7 | 613706 |
BRIP1 | 137.1 | 0.99 | 0.96 | Breast cancer, early-onset, | 114480 |
BRIP1 | 137.1 | 0.99 | 0.96 | Fanconi anemia, complementation group J, | 609054 |
BSCL2 | 126.4 | 1 | 0.99 | Encephalopathy, progressive, with or without lipodystrophy, | 615924 |
BSCL2 | 126.4 | 1 | 0.99 | Lipodystrophy, congenital generalized, type 2 | 269700 |
BSCL2 | 126.4 | 1 | 0.99 | Neuropathy, distal hereditary motor, type VA, | 600794 |
BSCL2 | 126.4 | 1 | 0.99 | Silver spastic paraplegia syndrome, | 270685 |
BTD | 163.8 | 1 | 0.99 | Biotinidase deficiency, | 253260 |
C10orf11 | 167.4 | 0.99 | 0.99 | Albinism, oculocutaneous, type VII, | 615179 |
C1QA | 130.2 | 0.98 | 0.95 | C1q deficiency, | 613652 |
C1QB | 195 | 0.99 | 0.99 | C1q deficiency, | 613652 |
C1QC | 232.3 | 1 | 0.99 | C1q deficiency, | 613652 |
C2CD3 | 163.2 | 0.95 | 0.95 | ?Orofaciodigital syndrome XIV, | 615948 |
C4orf26 | 226.3 | 1 | 1 | Amelogenesis imperfecta, type IIA4, | 614832 |
CA2 | 166.3 | 0.98 | 0.93 | Osteopetrosis, autosomal recessive 3 with renal tubular acidosis, | 259730 |
CAPN12 | 92.7 | 0.96 | 0.91 | No OMIM phenotype | 259730 |
CAPN12 | 92.7 | 0.96 | 0.91 | Modifying factor in ichthyosis | 259730 |
CARD14 | 120.7 | 0.99 | 0.98 | Pityriasis rubra pilaris, | 173200 |
CARD14 | 120.7 | 0.99 | 0.98 | Psoriasis 2 | 602723 |
CARD9 | 126.3 | 0.97 | 0.96 | Candidiasis, familial, 2 autosomal recessive, | 212050 |
CAST | 124.5 | 0.97 | 0.93 | Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads, | 616295 |
CAV1 | 269.1 | 1 | 1 | Pulmonary hypertension, primary, 3 | 615343 |
CAV1 | 269.1 | 1 | 1 | ?Lipodystrophy, congenital generalized, type 3 | 612526 |
CAV1 | 269.1 | 1 | 1 | ?Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome, | 606721 |
CBL | 145.2 | 0.99 | 0.98 | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, | 613563 |
CBL | 145.2 | 0.99 | 0.98 | ?Juvenile myelomonocytic leukemia, | 607785 |
CBS | 127.1 | 0.97 | 0.92 | Homocystinuria, B6-responsive and nonresponsive types, | 236200 |
CBS | 127.1 | 0.97 | 0.92 | Thrombosis, hyperhomocysteinemic, | 236200 |
CCBE1 | 81.9 | 0.98 | 0.92 | Hennekam lymphangiectasia-lymphedema syndrome 1 | 235510 |
CD151 | 150.2 | 1 | 1 | Nephropathy with pretibial epidermolysis bullosa and deafness, | 609057 |
CD151 | 150.2 | 1 | 1 | [Blood group, Raph], | 179620 |
CDAN1 | 113.1 | 0.98 | 0.96 | Dyserythropoietic anemia, congenital, type Ia, | 224120 |
CDH3 | 155.9 | 0.99 | 0.97 | Ectodermal dysplasia, ectrodactyly, and macular dystrophy, | 225280 |
CDH3 | 155.9 | 0.99 | 0.97 | Hypotrichosis, congenital, with juvenile macular dystrophy, | 601553 |
CDK4 | 137 | 1 | 0.99 | {Melanoma, cutaneous malignant, 3}, | 609048 |
CDKN2A | 77.7 | 0.92 | 0.9 | Melanoma and neural system tumor syndrome, | 155755 |
CDKN2A | 77.7 | 0.92 | 0.9 | Orolaryngeal cancer, multiple, | 155755 |
CDKN2A | 77.7 | 0.92 | 0.9 | Pancreatic cancer/melanoma syndrome, | 606719 |
CDKN2A | 77.7 | 0.92 | 0.9 | {Melanoma, cutaneous malignant, 2}, | 155601 |
CDSN | 25.5 | 0.63 | 0.46 | Hypotrichosis 2 | 146520 |
CDSN | 25.5 | 0.63 | 0.46 | Peeling skin syndrome 1 | 270300 |
CECR1 | 111.6 | 0.99 | 0.98 | Polyarteritis nodosa, childhood-onset, | 615688 |
CECR1 | 111.6 | 0.99 | 0.98 | ?Sneddon syndrome, | 182410 |
CERS3 | 139.7 | 1 | 0.99 | Ichthyosis, congenital, autosomal recessive 9 | 615023 |
CHKB | 101.2 | 0.99 | 0.96 | Muscular dystrophy, congenital, megaconial type, | 602541 |
CHST14 | 190.5 | 0.96 | 0.94 | Ehlers-Danlos syndrome, musculocontractural type 1 | 601776 |
CHSY1 | 148.3 | 0.96 | 0.94 | Temtamy preaxial brachydactyly syndrome, | 605282 |
CHUK | 144.9 | 0.99 | 0.96 | Cocoon syndrome, | 613630 |
CKAP2L | 195.2 | 0.98 | 0.95 | Filippi syndrome, | 272440 |
CLDN1 | 156.7 | 1 | 1 | Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, | 607626 |
CNNM4 | 211.2 | 0.98 | 0.98 | Jalili syndrome, | 217080 |
COL17A1 | 123.3 | 0.98 | 0.95 | Epidermolysis bullosa, junctional, localisata variant, | 226650 |
COL17A1 | 123.3 | 0.98 | 0.95 | Epidermolysis bullosa, junctional, non-Herlitz type, | 226650 |
COL17A1 | 123.3 | 0.98 | 0.95 | Epithelial recurrent erosion dystrophy, | 122400 |
COL1A2 | 111.6 | 0.96 | 0.93 | Ehlers-Danlos syndrome, cardiac valvular form, | 225320 |
COL1A2 | 111.6 | 0.96 | 0.93 | Ehlers-Danlos syndrome, type VIIB, | 130060 |
COL1A2 | 111.6 | 0.96 | 0.93 | Osteogenesis imperfecta, type II, | 166210 |
COL1A2 | 111.6 | 0.96 | 0.93 | Osteogenesis imperfecta, type III, | 259420 |
COL1A2 | 111.6 | 0.96 | 0.93 | Osteogenesis imperfecta, type IV, | 166220 |
COL1A2 | 111.6 | 0.96 | 0.93 | {Osteoporosis, postmenopausal}, | 166710 |
COL3A1 | 115.8 | 0.95 | 0.88 | Ehlers-Danlos syndrome, type IV, | 130050 |
COL5A1 | 125.6 | 0.97 | 0.95 | Ehlers-Danlos syndrome, classic type, | 130000 |
COL5A2 | 93.4 | 0.99 | 0.96 | Ehlers-Danlos syndrome, classic type, | 130000 |
COL7A1 | 139.7 | 0.99 | 0.97 | EBD inversa, | 226600 |
COL7A1 | 139.7 | 0.99 | 0.97 | EBD, Bart type, | 132000 |
COL7A1 | 139.7 | 0.99 | 0.97 | EBD, localisata variant | 132000 |
COL7A1 | 139.7 | 0.99 | 0.97 | Epidermolysis bullosa dystrophica, AD, | 131750 |
COL7A1 | 139.7 | 0.99 | 0.97 | Epidermolysis bullosa dystrophica, AR, | 226600 |
COL7A1 | 139.7 | 0.99 | 0.97 | Epidermolysis bullosa pruriginosa, | 604129 |
COL7A1 | 139.7 | 0.99 | 0.97 | Epidermolysis bullosa, pretibial, | 131850 |
COL7A1 | 139.7 | 0.99 | 0.97 | Toenail dystrophy, isolated, | 607523 |
COL7A1 | 139.7 | 0.99 | 0.97 | Transient bullous of the newborn, | 131705 |
COX4I2 | 107 | 1 | 1 | Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, | 612714 |
COX7B | 60.7 | 0.76 | 0.49 | Linear skin defects with multiple congenital anomalies, | 300887 |
CPOX | 124.8 | 0.91 | 0.85 | Coproporphyria, | 121300 |
CPOX | 124.8 | 0.91 | 0.85 | Harderoporphyria, | 121300 |
CSTA | 119.4 | 1 | 0.98 | Peeling skin syndrome 4 | 607936 |
CTC1 | 118.9 | 0.99 | 0.99 | Cerebroretinal microangiopathy with calcifications and cysts, | 612199 |
CTSA | 149.8 | 0.99 | 0.99 | Galactosialidosis, | 256540 |
CTSC | 148.6 | 1 | 1 | Haim-Munk syndrome, | 245010 |
CTSC | 148.6 | 1 | 1 | Papillon-Lefevre syndrome, | 245000 |
CTSC | 148.6 | 1 | 1 | Periodontitis 1 juvenile, | 170650 |
CXCR4 | 210.4 | 1 | 0.99 | Myelokathexis, isolated | 170650 |
CXCR4 | 210.4 | 1 | 0.99 | WHIM syndrome, | 193670 |
CYLD | 135.1 | 0.97 | 0.93 | Brooke-Spiegler syndrome, | 605041 |
CYLD | 135.1 | 0.97 | 0.93 | Cylindromatosis, familial, | 132700 |
CYLD | 135.1 | 0.97 | 0.93 | Trichoepithelioma, multiple familial, 1 | 601606 |
CYP26C1 | 89.4 | 0.99 | 0.97 | Focal facial dermal dysplasia 4 | 614974 |
CYP4F22 | 137.9 | 0.99 | 0.99 | Ichthyosis, congenital, autosomal recessive 5 | 604777 |
DCAF17 | 110.1 | 0.98 | 0.92 | Woodhouse-Sakati syndrome, | 241080 |
DCLRE1C | 144.2 | 0.97 | 0.94 | Omenn syndrome, | 603554 |
DCLRE1C | 144.2 | 0.97 | 0.94 | Severe combined immunodeficiency, Athabascan type, | 602450 |
DDB2 | 173.8 | 1 | 0.99 | Xeroderma pigmentosum, group E, DDB-negative subtype, | 278740 |
DHCR7 | 176.8 | 1 | 1 | Smith-Lemli-Opitz syndrome, | 270400 |
DKC1 | 138.1 | 0.99 | 0.98 | Dyskeratosis congenita, X-linked, | 305000 |
DLX3 | 137.4 | 1 | 0.99 | Amelogenesis imperfecta, type IV, | 104510 |
DLX3 | 137.4 | 1 | 0.99 | Trichodontoosseous syndrome, | 190320 |
DLX5 | 158.6 | 1 | 0.97 | ?Split-hand/foot malformation 1 with sensorineural hearing loss, | 220600 |
DOCK6 | 133.6 | 0.99 | 0.97 | Adams-Oliver syndrome 2 | 614219 |
DOCK8 | 151.8 | 1 | 0.99 | Hyper-IgE recurrent infection syndrome, autosomal recessive, | 243700 |
DOLK | 201.8 | 0.99 | 0.99 | Congenital disorder of glycosylation, type Im, | 610768 |
DSC2 | 154.4 | 0.98 | 0.94 | Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, | 610768 |
DSC2 | 154.4 | 0.98 | 0.94 | Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, | 610476 |
DSC2 | 154.4 | 0.98 | 0.94 | Arrhythmogenic right ventricular dysplasia 11 | 610476 |
DSC3 | 105.7 | 0.96 | 0.87 | ?Hypotrichosis and recurrent skin vesicles, | 613102 |
DSE | 117.9 | 0.99 | 0.98 | ?Ehlers-Danlos syndrome, musculocontractural type 2 | 615539 |
DSG1 | 195.3 | 0.98 | 0.96 | Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, | 615508 |
DSG1 | 195.3 | 0.98 | 0.96 | Keratosis palmoplantaris striata I, AD, | 148700 |
DSG3 | 159.4 | 0.99 | 0.97 | No OMIM phenotype | 148700 |
DSG4 | 241 | 0.98 | 0.96 | Hypotrichosis 6 | 607903 |
DSP | 161.9 | 0.99 | 0.99 | Arrhythmogenic right ventricular dysplasia 8 | 607450 |
DSP | 161.9 | 0.99 | 0.99 | Cardiomyopathy, dilated, with woolly hair and keratoderma, | 605676 |
DSP | 161.9 | 0.99 | 0.99 | Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, | 615821 |
DSP | 161.9 | 0.99 | 0.99 | Epidermolysis bullosa, lethal acantholytic, | 609638 |
DSP | 161.9 | 0.99 | 0.99 | Keratosis palmoplantaris striata II, | 612908 |
DSP | 161.9 | 0.99 | 0.99 | Skin fragility-woolly hair syndrome, | 607655 |
DSPP | 191 | 1 | 0.99 | Deafness, autosomal dominant 39 with dentinogenesis, | 605594 |
DSPP | 191 | 1 | 0.99 | Dentin dysplasia, type II, | 125420 |
DSPP | 191 | 1 | 0.99 | Dentinogenesis imperfecta, Shields type II, | 125490 |
DSPP | 191 | 1 | 0.99 | Dentinogenesis imperfecta, Shields type III, | 125500 |
DTNBP1 | 119.9 | 0.99 | 0.96 | Hermansky-Pudlak syndrome 7 | 614076 |
DUSP6 | 173.3 | 1 | 0.99 | Hypogonadotropic hypogonadism 19 with or without anosmia, | 615269 |
EBP | 101.3 | 0.99 | 0.96 | Chondrodysplasia punctata, X-linked dominant, | 302960 |
EBP | 101.3 | 0.99 | 0.96 | MEND syndrome, | 300960 |
ECM1 | 178.8 | 1 | 0.99 | Urbach-Wiethe disease, | 247100 |
EDA | 101 | 0.9 | 0.79 | Ectodermal dysplasia 1 hypohidrotic, X-linked, | 305100 |
EDA | 101 | 0.9 | 0.79 | Tooth agenesis, selective, X-linked 1 | 313500 |
EDAR | 145.9 | 0.99 | 0.98 | Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant, | 129490 |
EDAR | 145.9 | 0.99 | 0.98 | Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive, | 224900 |
EDAR | 145.9 | 0.99 | 0.98 | [Hair morphology 1 hair thickness], | 612630 |
EDARADD | 98.6 | 0.97 | 0.92 | Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant, | 614940 |
EDARADD | 98.6 | 0.97 | 0.92 | Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive, | 614941 |
EDN3 | 138.2 | 1 | 0.98 | Central hypoventilation syndrome, congenital, | 209880 |
EDN3 | 138.2 | 1 | 0.98 | Waardenburg syndrome, type 4B, | 613265 |
EDN3 | 138.2 | 1 | 0.98 | {Hirschsprung disease, susceptibility to, 4}, | 613712 |
EDNRA | 226.9 | 0.99 | 0.99 | Mandibulofacial dysostosis with alopecia, | 616367 |
EDNRA | 226.9 | 0.99 | 0.99 | {Migraine, resistance to}, | 157300 |
EDNRB | 143.9 | 0.95 | 0.91 | ABCD syndrome, | 600501 |
EDNRB | 143.9 | 0.95 | 0.91 | Waardenburg syndrome, type 4A, | 277580 |
EDNRB | 143.9 | 0.95 | 0.91 | {Hirschsprung disease, susceptibility to, 2}, | 600155 |
EFEMP2 | 139.9 | 1 | 1 | Cutis laxa, autosomal recessive, type IB, | 614437 |
EFNB1 | 142.4 | 1 | 0.99 | Craniofrontonasal dysplasia, | 304110 |
EIF2AK3 | 169.7 | 0.96 | 0.91 | Wolcott-Rallison syndrome, | 226980 |
ELN | 111.9 | 0.99 | 0.98 | Cutis laxa, AD, | 123700 |
ELN | 111.9 | 0.99 | 0.98 | Supravalvar aortic stenosis, | 185500 |
ELOVL4 | 104.8 | 0.99 | 0.97 | Ichthyosis, spastic quadriplegia, and mental retardation, | 614457 |
ELOVL4 | 104.8 | 0.99 | 0.97 | Stargardt disease 3 | 600110 |
ELOVL4 | 104.8 | 0.99 | 0.97 | ?Spinocerebellar ataxia 34 | 133190 |
ENAM | 152.1 | 1 | 0.99 | Amelogenesis imperfecta, type IB, | 104500 |
ENAM | 152.1 | 1 | 0.99 | Amelogenesis imperfecta, type IC, | 204650 |
ENG | 146.3 | 0.98 | 0.96 | Telangiectasia, hereditary hemorrhagic, type 1 | 187300 |
ENPP1 | 155.5 | 0.91 | 0.83 | Arterial calcification, generalized, of infancy, 1 | 208000 |
ENPP1 | 155.5 | 0.91 | 0.83 | Cole disease, | 615522 |
ENPP1 | 155.5 | 0.91 | 0.83 | Hypophosphatemic rickets, autosomal recessive, 2 | 613312 |
ENPP1 | 155.5 | 0.91 | 0.83 | {Diabetes mellitus, non-insulin-dependent, susceptibility to}, | 125853 |
ENPP1 | 155.5 | 0.91 | 0.83 | {Obesity, susceptibility to}, | 601665 |
EPG5 | 144.7 | 0.99 | 0.97 | Vici syndrome, | 242840 |
ERCC2 | 143.5 | 1 | 0.99 | Cerebrooculofacioskeletal syndrome 2 | 610756 |
ERCC2 | 143.5 | 1 | 0.99 | Trichothiodystrophy 1 photosensitive, | 601675 |
ERCC2 | 143.5 | 1 | 0.99 | Xeroderma pigmentosum, group D, | 278730 |
ERCC3 | 117.6 | 0.99 | 0.98 | Trichothiodystrophy 2 photosensitive, | 616390 |
ERCC3 | 117.6 | 0.99 | 0.98 | Xeroderma pigmentosum, group B, | 610651 |
ERCC4 | 168.4 | 0.99 | 0.98 | Fanconi anemia, complementation group Q, | 615272 |
ERCC4 | 168.4 | 0.99 | 0.98 | Xeroderma pigmentosum, group F, | 278760 |
ERCC4 | 168.4 | 0.99 | 0.98 | Xeroderma pigmentosum, type F/Cockayne syndrome, | 278760 |
ERCC4 | 168.4 | 0.99 | 0.98 | ?XFE progeroid syndrome, | 610965 |
ERCC5 | 161.6 | 0.99 | 0.99 | Cerebrooculofacioskeletal syndrome 3 | 616570 |
ERCC5 | 161.6 | 0.99 | 0.99 | Xeroderma pigmentosum, group G, | 278780 |
ERCC5 | 161.6 | 0.99 | 0.99 | Xeroderma pigmentosum, group G/Cockayne syndrome, | 278780 |
ERCC6 | 192.3 | 1 | 0.99 | Cerebrooculofacioskeletal syndrome 1 | 214150 |
ERCC6 | 192.3 | 1 | 0.99 | Cockayne syndrome, type B, | 133540 |
ERCC6 | 192.3 | 1 | 0.99 | De Sanctis-Cacchione syndrome, | 278800 |
ERCC6 | 192.3 | 1 | 0.99 | Premature ovarian failure 11, | 616946 |
ERCC6 | 192.3 | 1 | 0.99 | UV-sensitive syndrome 1 | 600630 |
ERCC6 | 192.3 | 1 | 0.99 | {Lung cancer, susceptibility to}, | 211980 |
ERCC6 | 192.3 | 1 | 0.99 | {Macular degeneration, age-related, susceptibility to 5}, | 613761 |
ERCC8 | 95.1 | 0.93 | 0.81 | Cockayne syndrome, type A, | 216400 |
ERCC8 | 95.1 | 0.93 | 0.81 | UV-sensitive syndrome 2 | 614621 |
EVC | 117.3 | 0.93 | 0.9 | Ellis-van Creveld syndrome, | 225500 |
EVC | 117.3 | 0.93 | 0.9 | Weyers acrodental dysostosis, | 193530 |
EVC2 | 125.8 | 0.96 | 0.92 | Ellis-van Creveld syndrome, | 225500 |
EVC2 | 125.8 | 0.96 | 0.92 | Weyers acrofacial dysostosis, | 193530 |
EXPH5 | 225.8 | 1 | 0.99 | Epidermolysis bullosa, nonspecific, autosomal recessive, | 615028 |
FAM111B | 165.3 | 1 | 1 | Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis, | 615704 |
FAM20A | 118.6 | 0.97 | 0.92 | Amelogenesis imperfecta, type IG (enamel-renal syndrome), | 204690 |
FAM20C | 102.3 | 0.99 | 0.96 | Raine syndrome, | 259775 |
FAM83G | 134.3 | 0.99 | 0.99 | No OMIM phenotype | 259775 |
FAM83G | 134.3 | 0.99 | 0.99 | Palmoplantar keratoderma with leukonychia and abundant curly hair (Maruthappu et al, -2016 ESDR) | 259775 |
FAM83H | 83.2 | 0.95 | 0.89 | Amelogenesis imperfecta, type III, | 130900 |
FANCA | 130.4 | 0.99 | 0.98 | Fanconi anemia, complementation group A, | 227650 |
FANCB | 78.3 | 0.95 | 0.86 | Fanconi anemia, complementation group B, | 300514 |
FANCC | 123.2 | 0.98 | 0.96 | Fanconi anemia, complementation group C, | 227645 |
FANCD2 | 142.7 | 0.98 | 0.95 | Fanconi anemia, complementation group D2, | 227646 |
FANCE | 117 | 0.88 | 0.85 | Fanconi anemia, complementation group E, | 600901 |
FANCF | 158.8 | 1 | 1 | Fanconi anemia, complementation group F, | 603467 |
FANCG | 149.5 | 0.99 | 0.99 | Fanconi anemia, complementation group G, | 614082 |
FANCI | 182 | 0.99 | 0.97 | Fanconi anemia, complementation group I, | 609053 |
FANCL | 86 | 0.98 | 0.93 | Fanconi anemia, complementation group L, | 614083 |
FANCM | 108.9 | 0.97 | 0.92 | No OMIM phenotype | 614083 |
FANCM | 108.9 | 0.97 | 0.92 | Fanconi anemia, complementation group M, | 614087 |
FAT4 | 245.8 | 1 | 0.99 | Hennekam lymphangiectasia-lymphedema syndrome 2 | 616006 |
FAT4 | 245.8 | 1 | 0.99 | Van Maldergem syndrome 2 | 615546 |
FBLN5 | 124.6 | 0.91 | 0.9 | Cutis laxa, autosomal dominant 2 | 614434 |
FBLN5 | 124.6 | 0.91 | 0.9 | Cutis laxa, autosomal recessive, type IA, | 219100 |
FBLN5 | 124.6 | 0.91 | 0.9 | Macular degeneration, age-related, 3 | 608895 |
FBLN5 | 124.6 | 0.91 | 0.9 | Neuropathy, hereditary, with or without age-related macular degeneration, | 608895 |
FDPS | 75.8 | 0.98 | 0.94 | Porokeratosis 9 multiple types, | 616631 |
FECH | 142.4 | 0.99 | 0.99 | Protoporphyria, erythropoietic, autosomal recessive, | 177000 |
FERMT1 | 111.7 | 0.98 | 0.95 | Kindler syndrome, | 173650 |
FGF10 | 150.1 | 1 | 1 | Aplasia of lacrimal and salivary glands, | 180920 |
FGF10 | 150.1 | 1 | 1 | LADD syndrome, | 149730 |
FGF23 | 129.9 | 0.99 | 0.98 | Hypophosphatemic rickets, autosomal dominant, | 193100 |
FGF23 | 129.9 | 0.99 | 0.98 | Osteomalacia, tumor-induced | 193100 |
FGF23 | 129.9 | 0.99 | 0.98 | Tumoral calcinosis, hyperphosphatemic, familial, | 211900 |
FGF3 | 80.8 | 0.95 | 0.83 | Deafness, congenital with inner ear agenesis, microtia, and microdontia, | 610706 |
FGF5 | 112 | 0.99 | 0.96 | Trichomegaly, | 190330 |
FGF8 | 127.4 | 0.85 | 0.79 | Hypogonadotropic hypogonadism 6 with or without anosmia, | 612702 |
FGFR1 | 161.5 | 0.99 | 0.97 | Encephalocraniocutaneous lipomatosis, | 613001 |
FGFR1 | 161.5 | 0.99 | 0.97 | Hartsfield syndrome, | 615465 |
FGFR1 | 161.5 | 0.99 | 0.97 | Hypogonadotropic hypogonadism 2 with or without anosmia, | 147950 |
FGFR1 | 161.5 | 0.99 | 0.97 | Jackson-Weiss syndrome, | 123150 |
FGFR1 | 161.5 | 0.99 | 0.97 | Osteoglophonic dysplasia, | 166250 |
FGFR1 | 161.5 | 0.99 | 0.97 | Pfeiffer syndrome, | 101600 |
FGFR1 | 161.5 | 0.99 | 0.97 | Trigonocephaly 1 | 190440 |
FGFR2 | 156.4 | 0.96 | 0.95 | Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, | 207410 |
FGFR2 | 156.4 | 0.96 | 0.95 | Apert syndrome, | 101200 |
FGFR2 | 156.4 | 0.96 | 0.95 | Beare-Stevenson cutis gyrata syndrome, | 123790 |
FGFR2 | 156.4 | 0.96 | 0.95 | Bent bone dysplasia syndrome, | 614592 |
FGFR2 | 156.4 | 0.96 | 0.95 | Craniofacial-skeletal-dermatologic dysplasia, | 101600 |
FGFR2 | 156.4 | 0.96 | 0.95 | Craniosynostosis, nonspecific | 101600 |
FGFR2 | 156.4 | 0.96 | 0.95 | Crouzon syndrome, | 123500 |
FGFR2 | 156.4 | 0.96 | 0.95 | Gastric cancer, somatic, | 613659 |
FGFR2 | 156.4 | 0.96 | 0.95 | Jackson-Weiss syndrome, | 123150 |
FGFR2 | 156.4 | 0.96 | 0.95 | LADD syndrome, | 149730 |
FGFR2 | 156.4 | 0.96 | 0.95 | Pfeiffer syndrome, | 101600 |
FGFR2 | 156.4 | 0.96 | 0.95 | Saethre-Chotzen syndrome, | 101400 |
FGFR2 | 156.4 | 0.96 | 0.95 | Scaphocephaly and Axenfeld-Rieger anomaly | 101400 |
FGFR2 | 156.4 | 0.96 | 0.95 | Scaphocephaly, maxillary retrusion, and mental retardation, | 609579 |
FGFR3 | 120.2 | 0.99 | 0.99 | Achondroplasia, | 100800 |
FGFR3 | 120.2 | 0.99 | 0.99 | Bladder cancer, somatic, | 109800 |
FGFR3 | 120.2 | 0.99 | 0.99 | CATSHL syndrome, | 610474 |
FGFR3 | 120.2 | 0.99 | 0.99 | Cervical cancer, somatic, | 603956 |
FGFR3 | 120.2 | 0.99 | 0.99 | Colorectal cancer, somatic, | 114500 |
FGFR3 | 120.2 | 0.99 | 0.99 | Crouzon syndrome with acanthosis nigricans, | 612247 |
FGFR3 | 120.2 | 0.99 | 0.99 | Hypochondroplasia, | 146000 |
FGFR3 | 120.2 | 0.99 | 0.99 | LADD syndrome, | 149730 |
FGFR3 | 120.2 | 0.99 | 0.99 | Muenke syndrome, | 602849 |
FGFR3 | 120.2 | 0.99 | 0.99 | Nevus, epidermal, somatic, | 162900 |
FGFR3 | 120.2 | 0.99 | 0.99 | SADDAN, | 616482 |
FGFR3 | 120.2 | 0.99 | 0.99 | Spermatocytic seminoma, somatic, | 273300 |
FGFR3 | 120.2 | 0.99 | 0.99 | Thanatophoric dysplasia, type I, | 187600 |
FGFR3 | 120.2 | 0.99 | 0.99 | Thanatophoric dysplasia, type II, | 187601 |
FH | 175.4 | 0.92 | 0.88 | Fumarase deficiency, | 606812 |
FH | 175.4 | 0.92 | 0.88 | Leiomyomatosis and renal cell cancer, | 150800 |
FKBP10 | 174.6 | 0.98 | 0.95 | Bruck syndrome 1 | 259450 |
FKBP10 | 174.6 | 0.98 | 0.95 | Osteogenesis imperfecta, type XI, | 610968 |
FKBP14 | 81.3 | 0.99 | 0.98 | Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, | 614557 |
FLCN | 172.1 | 0.99 | 0.98 | Birt-Hogg-Dube syndrome, | 135150 |
FLCN | 172.1 | 0.99 | 0.98 | Colorectal cancer, somatic, | 114500 |
FLCN | 172.1 | 0.99 | 0.98 | Pneumothorax, primary spontaneous, | 173600 |
FLCN | 172.1 | 0.99 | 0.98 | Renal carcinoma, chromophobe, somatic, | 144700 |
FLG | 245.1 | 1 | 0.99 | Ichthyosis vulgaris, | 146700 |
FLG | 245.1 | 1 | 0.99 | {Dermatitis, atopic, susceptibility to, 2}, | 605803 |
FLG2 | 798.1 | 1 | 0.99 | No OMIM phenotype | 605803 |
FLG2 | 798.1 | 1 | 0.99 | ?Atopic dermatitis (Margolis -2014 J Invest Dermatol 134,2272) | 605803 |
FLT4 | 181.2 | 0.99 | 0.98 | Hemangioma, capillary infantile, somatic, | 602089 |
FLT4 | 181.2 | 0.99 | 0.98 | Lymphedema, hereditary, IA, | 153100 |
FNIP1 | 174.2 | 0.99 | 0.97 | No OMIM phenotype | 153100 |
FOXC2 | 54.5 | 0.96 | 0.85 | Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus, | 153400 |
FOXC2 | 54.5 | 0.96 | 0.85 | Lymphedema-distichiasis syndrome, | 153400 |
FOXE1 | 31.4 | 0.76 | 0.6 | Bamforth-Lazarus syndrome, | 241850 |
FOXE1 | 31.4 | 0.76 | 0.6 | {Thyroid cancer, nonmedullary, 4}, | 616534 |
FOXN1 | 110.9 | 0.99 | 0.98 | T-cell immunodeficiency, congenital alopecia, and nail dystrophy, | 601705 |
FOXP3 | 136.8 | 0.98 | 0.91 | Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, | 304790 |
FOXP3 | 136.8 | 0.98 | 0.91 | {Diabetes mellitus, type I, susceptibility to}, | 222100 |
FREM1 | 156.4 | 0.99 | 0.98 | Bifid nose with or without anorectal and renal anomalies, | 608980 |
FREM1 | 156.4 | 0.99 | 0.98 | Manitoba oculotrichoanal syndrome, | 248450 |
FREM1 | 156.4 | 0.99 | 0.98 | Trigonocephaly 2 | 614485 |
FUCA1 | 156.2 | 0.99 | 0.99 | Fucosidosis, | 230000 |
FZD6 | 225.6 | 1 | 1 | Nail disorder, nonsyndromic congenital, 10 (claw-shaped nails), | 614157 |
GALNS | 105.4 | 0.99 | 0.94 | Mucopolysaccharidosis IVA, | 253000 |
GALNT3 | 144.6 | 0.98 | 0.94 | Tumoral calcinosis, hyperphosphatemic, familial, | 211900 |
GAN | 210.8 | 0.99 | 0.99 | Giant axonal neuropathy-1, | 256850 |
GATA2 | 145.6 | 1 | 0.99 | Emberger syndrome, | 614038 |
GATA2 | 145.6 | 1 | 0.99 | Immunodeficiency 21 | 614172 |
GATA2 | 145.6 | 1 | 0.99 | {Leukemia, acute myeloid, susceptibility to}, | 601626 |
GATA2 | 145.6 | 1 | 0.99 | {Myelodysplastic syndrome, susceptibility to}, | 614286 |
GDF2 | 170.3 | 1 | 1 | Telangiectasia, hereditary hemorrhagic, type 5 | 615506 |
GDF5 | 156.9 | 0.99 | 0.99 | Brachydactyly, type A1, C, | 615072 |
GDF5 | 156.9 | 0.99 | 0.99 | Brachydactyly, type A2, | 112600 |
GDF5 | 156.9 | 0.99 | 0.99 | Brachydactyly, type C, | 113100 |
GDF5 | 156.9 | 0.99 | 0.99 | Chondrodysplasia, Grebe type, | 200700 |
GDF5 | 156.9 | 0.99 | 0.99 | Du Pan syndrome, | 228900 |
GDF5 | 156.9 | 0.99 | 0.99 | Multiple synostoses syndrome 2 | 610017 |
GDF5 | 156.9 | 0.99 | 0.99 | Symphalangism, proximal, 1B, | 615298 |
GDF5 | 156.9 | 0.99 | 0.99 | ?Acromesomelic dysplasia, Hunter-Thompson type, | 201250 |
GDF5 | 156.9 | 0.99 | 0.99 | {Osteoarthritis-5}, | 612400 |
GGCX | 124.5 | 0.99 | 0.98 | Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency, | 610842 |
GGCX | 124.5 | 0.99 | 0.98 | Vitamin K-dependent clotting factors, combined deficiency of, 1 | 277450 |
GJA1 | 218.1 | 1 | 1 | Atrioventricular septal defect 3 | 600309 |
GJA1 | 218.1 | 1 | 1 | Craniometaphyseal dysplasia, autosomal recessive, | 218400 |
GJA1 | 218.1 | 1 | 1 | Erythrokeratodermia variabilis et progressiva, | 133200 |
GJA1 | 218.1 | 1 | 1 | Hypoplastic left heart syndrome 1 | 241550 |
GJA1 | 218.1 | 1 | 1 | Oculodentodigital dysplasia, | 164200 |
GJA1 | 218.1 | 1 | 1 | Oculodentodigital dysplasia, autosomal recessive, | 257850 |
GJA1 | 218.1 | 1 | 1 | Palmoplantar keratoderma with congenital alopecia, | 104100 |
GJA1 | 218.1 | 1 | 1 | Syndactyly, type III, | 186100 |
GJB2 | 239.7 | 1 | 1 | Bart-Pumphrey syndrome, | 149200 |
GJB2 | 239.7 | 1 | 1 | Deafness, autosomal dominant 3A, | 601544 |
GJB2 | 239.7 | 1 | 1 | Deafness, autosomal recessive 1A, | 220290 |
GJB2 | 239.7 | 1 | 1 | Hystrix-like ichthyosis with deafness, | 602540 |
GJB2 | 239.7 | 1 | 1 | Keratitis-ichthyosis-deafness syndrome, | 148210 |
GJB2 | 239.7 | 1 | 1 | Keratoderma, palmoplantar, with deafness, | 148350 |
GJB2 | 239.7 | 1 | 1 | Vohwinkel syndrome, | 124500 |
GJB3 | 357.6 | 1 | 1 | Deafness, autosomal dominant 2B, | 612644 |
GJB3 | 357.6 | 1 | 1 | Deafness, autosomal dominant, with peripheral neuropathy | 612644 |
GJB3 | 357.6 | 1 | 1 | Deafness, autosomal recessive | 612644 |
GJB3 | 357.6 | 1 | 1 | Deafness, digenic, GJB2/GJB3, | 220290 |
GJB3 | 357.6 | 1 | 1 | Erythrokeratodermia variabilis et progressiva, | 133200 |
GJB4 | 420 | 1 | 1 | Erythrokeratodermia variabilis with erythema gyratum repens, | 133200 |
GJB6 | 226.9 | 1 | 1 | Deafness, autosomal dominant 3B, | 612643 |
GJB6 | 226.9 | 1 | 1 | Deafness, autosomal recessive 1B, | 612645 |
GJB6 | 226.9 | 1 | 1 | Deafness, digenic GJB2/GJB6, | 220290 |
GJB6 | 226.9 | 1 | 1 | Ectodermal dysplasia 2 Clouston type, | 129500 |
GJC2 | 52.2 | 0.85 | 0.68 | Leukodystrophy, hypomyelinating, 2 | 608804 |
GJC2 | 52.2 | 0.85 | 0.68 | Lymphedema, hereditary, IC, | 613480 |
GJC2 | 52.2 | 0.85 | 0.68 | Spastic paraplegia 44 autosomal recessive, | 613206 |
GLA | 87.1 | 0.99 | 0.97 | Fabry disease, | 301500 |
GLA | 87.1 | 0.99 | 0.97 | Fabry disease, cardiac variant, | 301500 |
GLB1 | 93.9 | 0.99 | 0.95 | GM1-gangliosidosis, type I, | 230500 |
GLB1 | 93.9 | 0.99 | 0.95 | GM1-gangliosidosis, type II, | 230600 |
GLB1 | 93.9 | 0.99 | 0.95 | GM1-gangliosidosis, type III, | 230650 |
GLB1 | 93.9 | 0.99 | 0.95 | Mucopolysaccharidosis type IVB (Morquio), | 253010 |
GLMN | 80.8 | 0.95 | 0.86 | Glomuvenous malformations, | 138000 |
GMPPA | 148.3 | 1 | 1 | Alacrima, achalasia, and mental retardation syndrome, | 615510 |
GNA11 | 173.1 | 1 | 0.99 | Hypocalcemia, autosomal dominant 2 | 615361 |
GNA11 | 173.1 | 1 | 0.99 | Hypocalciuric hypercalcemia, type II, | 145981 |
GNAQ | 96.6 | 0.88 | 0.74 | Capillary malformations, congenital, 1 somatic, mosaic, | 163000 |
GNAQ | 96.6 | 0.88 | 0.74 | Sturge-Weber syndrome, somatic, mosaic, | 185300 |
GNAS | 140.1 | 0.98 | 0.96 | Acromegaly, somatic, | 102200 |
GNAS | 140.1 | 0.98 | 0.96 | ACTH-independent macronodular adrenal hyperplasia, | 219080 |
GNAS | 140.1 | 0.98 | 0.96 | McCune-Albright syndrome, somatic, mosaic | 174800 |
GNAS | 140.1 | 0.98 | 0.96 | Osseous heteroplasia, progressive, | 166350 |
GNAS | 140.1 | 0.98 | 0.96 | Pseudohypoparathyroidism Ia, | 103580 |
GNAS | 140.1 | 0.98 | 0.96 | Pseudohypoparathyroidism Ib, | 603233 |
GNAS | 140.1 | 0.98 | 0.96 | Pseudohypoparathyroidism Ic, | 612462 |
GNAS | 140.1 | 0.98 | 0.96 | Pseudopseudohypoparathyroidism, | 612463 |
GORAB | 197.1 | 1 | 0.99 | Geroderma osteodysplasticum, | 231070 |
GPR143 | 77.7 | 0.91 | 0.85 | Nystagmus 6 congenital, X-linked, | 300814 |
GPR143 | 77.7 | 0.91 | 0.85 | Ocular albinism, type I, Nettleship-Falls type, | 300500 |
GRHL2 | 151.5 | 1 | 0.99 | Deafness, autosomal dominant 28 | 608641 |
GRHL2 | 151.5 | 1 | 0.99 | Ectodermal dysplasia/short stature syndrome, | 616029 |
GRHL3 | 160 | 1 | 1 | Van der Woude syndrome 2 | 606713 |
GSN | 131.2 | 0.97 | 0.93 | Amyloidosis, Finnish type, | 105120 |
GTF2H5 | 149.4 | 1 | 0.99 | Trichothiodystrophy 3 photosensitive, | 616395 |
HCCS | 123.6 | 1 | 0.98 | Linear skin defects with multiple congenital anomalies 1 | 309801 |
HDAC8 | 165.1 | 1 | 0.99 | Cornelia de Lange syndrome 5 | 300882 |
HERC2 | 117.3 | 0.79 | 0.75 | Mental retardation, autosomal recessive 38 | 615516 |
HERC2 | 117.3 | 0.79 | 0.75 | [Skin/hair/eye pigmentation 1 blond/brown hair], | 227220 |
HERC2 | 117.3 | 0.79 | 0.75 | [Skin/hair/eye pigmentation 1 blue/nonblue eyes], | 227220 |
HLCS | 193.1 | 1 | 1 | Holocarboxylase synthetase deficiency, | 253270 |
HMBS | 117.7 | 1 | 0.99 | Porphyria, acute intermittent, | 176000 |
HMBS | 117.7 | 1 | 0.99 | Porphyria, acute intermittent, nonerythroid variant, | 176000 |
HMGB3 | 43.1 | 0.91 | 0.75 | ?Microphthalmia, syndromic 13 | 300915 |
HOXC13 | 111.7 | 0.95 | 0.9 | Ectodermal dysplasia 9 hair/nail type, | 614931 |
HPS1 | 130.1 | 0.99 | 0.99 | Hermansky-Pudlak syndrome 1 | 203300 |
HPS3 | 159.5 | 0.99 | 0.97 | Hermansky-Pudlak syndrome 3 | 614072 |
HPS4 | 159.7 | 1 | 0.99 | Hermansky-Pudlak syndrome 4 | 614073 |
HPS5 | 155 | 0.99 | 0.98 | Hermansky-Pudlak syndrome 5 | 614074 |
HPS6 | 140.9 | 0.97 | 0.89 | Hermansky-Pudlak syndrome 6 | 614075 |
HR | 104.2 | 0.97 | 0.94 | Alopecia universalis, | 203655 |
HR | 104.2 | 0.97 | 0.94 | Atrichia with papular lesions, | 209500 |
HR | 104.2 | 0.97 | 0.94 | Hypotrichosis 4 | 146550 |
HRAS | 195.3 | 0.99 | 0.99 | Congenital myopathy with excess of muscle spindles, | 218040 |
HRAS | 195.3 | 0.99 | 0.99 | Costello syndrome, | 218040 |
HRAS | 195.3 | 0.99 | 0.99 | Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, | 163200 |
HRAS | 195.3 | 0.99 | 0.99 | {Bladder cancer, somatic}, | 109800 |
HRAS | 195.3 | 0.99 | 0.99 | {Nevus sebaceous or woolly hair nevus, somatic}, | 162900 |
HRAS | 195.3 | 0.99 | 0.99 | {Spitz nevus or nevus spilus, somatic}, | 137550 |
HRAS | 195.3 | 0.99 | 0.99 | {Thyroid carcinoma, follicular, somatic}, | 188470 |
HTRA1 | 113 | 0.86 | 0.81 | CARASIL syndrome, | 600142 |
HTRA1 | 113 | 0.86 | 0.81 | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 | 600142 |
HTRA1 | 113 | 0.86 | 0.81 | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 | 616779 |
HTRA1 | 113 | 0.86 | 0.81 | {Macular degeneration, age-related, 7}, | 610149 |
HTRA1 | 113 | 0.86 | 0.81 | {Macular degeneration, age-related, neovascular type}, | 610149 |
HYAL1 | 125 | 1 | 1 | ?Mucopolysaccharidosis type IX, | 601492 |
IDUA | 116.9 | 0.91 | 0.85 | Mucopolysaccharidosis Ih, | 607014 |
IDUA | 116.9 | 0.91 | 0.85 | Mucopolysaccharidosis Ih/s, | 607015 |
IDUA | 116.9 | 0.91 | 0.85 | Mucopolysaccharidosis Is, | 607016 |
IFT122 | 164.4 | 1 | 0.99 | Cranioectodermal dysplasia 1 | 218330 |
IFT43 | 130.6 | 1 | 1 | Cranioectodermal dysplasia 3 | 614099 |
IKBKG | 56.2 | 0.84 | 0.7 | Ectodermal dysplasia, hypohidrotic, with immune deficiency, | 300291 |
IKBKG | 56.2 | 0.84 | 0.7 | Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, | 300301 |
IKBKG | 56.2 | 0.84 | 0.7 | Immunodeficiency 33 | 300636 |
IKBKG | 56.2 | 0.84 | 0.7 | Immunodeficiency, isolated, | 300584 |
IKBKG | 56.2 | 0.84 | 0.7 | Incontinentia pigmenti, | 308300 |
IKBKG | 56.2 | 0.84 | 0.7 | Invasive pneumococcal disease, recurrent isolated, 2 | 300640 |
IL17RA | 136.4 | 0.99 | 0.96 | ?Candidiasis, familial, 5 autosomal recessive, | 613953 |
IL17RD | 144.8 | 0.99 | 0.97 | Hypogonadotropic hypogonadism 18 with or without anosmia, | 615267 |
IL1RN | 186.9 | 1 | 0.99 | Interleukin 1 receptor antagonist deficiency, | 612852 |
IL1RN | 186.9 | 1 | 0.99 | {Gastric cancer risk after H, pylori infection}, | 137215 |
IL1RN | 186.9 | 1 | 0.99 | {Microvascular complications of diabetes 4}, | 612628 |
IL31RA | 150.8 | 1 | 0.99 | Amyloidosis, primary localized cutaneous, 2 | 613955 |
IL36RN | 106.9 | 1 | 0.99 | Psoriasis 14 pustular, | 614204 |
INSR | 146.5 | 0.96 | 0.94 | Diabetes mellitus, insulin-resistant, with acanthosis nigricans, | 610549 |
INSR | 146.5 | 0.96 | 0.94 | Hyperinsulinemic hypoglycemia, familial, 5 | 609968 |
INSR | 146.5 | 0.96 | 0.94 | Leprechaunism, | 246200 |
INSR | 146.5 | 0.96 | 0.94 | Rabson-Mendenhall syndrome, | 262190 |
IRF4 | 198.7 | 0.99 | 0.99 | [Skin/hair/eye pigmentation, variation in, 8], | 611724 |
IRF6 | 136 | 0.99 | 0.97 | Popliteal pterygium syndrome 1 | 119500 |
IRF6 | 136 | 0.99 | 0.97 | van der Woude syndrome, | 119300 |
IRF6 | 136 | 0.99 | 0.97 | {Orofacial cleft 6}, | 608864 |
ITGA3 | 154.5 | 0.99 | 0.97 | Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, | 614748 |
ITGA6 | 165.8 | 0.99 | 0.98 | Epidermolysis bullosa, junctional, with pyloric stenosis, | 226730 |
ITGB4 | 162.4 | 0.97 | 0.94 | Epidermolysis bullosa of hands and feet, | 131800 |
ITGB4 | 162.4 | 0.97 | 0.94 | Epidermolysis bullosa, junctional, non-Herlitz type, | 226650 |
ITGB4 | 162.4 | 0.97 | 0.94 | Epidermolysis bullosa, junctional, with pyloric atresia, | 226730 |
ITGB6 | 169.4 | 0.95 | 0.94 | Amelogenesis imperfecta, type IH, | 616221 |
JUP | 159 | 0.99 | 0.98 | Arrhythmogenic right ventricular dysplasia 12 | 611528 |
JUP | 159 | 0.99 | 0.98 | Naxos disease, | 601214 |
KAL1 | 106.4 | 0.89 | 0.87 | Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), | 308700 |
KANK2 | 159.1 | 0.99 | 0.99 | Palmoplantar keratoderma and woolly hair, | 616099 |
KAT6B | 202.7 | 0.99 | 0.98 | Genitopatellar syndrome, | 606170 |
KAT6B | 202.7 | 0.99 | 0.98 | SBBYSS syndrome, | 603736 |
KCNH1 | 198.9 | 1 | 0.99 | Temple-Baraitser syndrome, | 611816 |
KCNH1 | 198.9 | 1 | 0.99 | Zimmermann-Laband syndrome 1 | 135500 |
KCNK9 | 195.6 | 1 | 1 | Birk-Barel mental retardation dysmorphism syndrome, | 612292 |
KIF11 | 91.9 | 0.96 | 0.93 | Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation, | 152950 |
KIT | 175 | 1 | 0.99 | Gastrointestinal stromal tumor, familial, | 606764 |
KIT | 175 | 1 | 0.99 | Germ cell tumors, | 273300 |
KIT | 175 | 1 | 0.99 | Leukemia, acute myeloid, | 601626 |
KIT | 175 | 1 | 0.99 | Mast cell disease, | 154800 |
KIT | 175 | 1 | 0.99 | Piebaldism, | 172800 |
KITLG | 89.7 | 0.94 | 0.9 | Deafness, congenital, unilateral or asymmetric, | 616697 |
KITLG | 89.7 | 0.94 | 0.9 | Hyperpigmentation with or without hypopigmentation, | 145250 |
KITLG | 89.7 | 0.94 | 0.9 | [Skin/hair/eye pigmentation 7 blond/brown hair], | 611664 |
KLK4 | 210.9 | 0.99 | 0.98 | Amelogenesis imperfecta, type IIA1, | 204700 |
KLLN | 121.9 | 1 | 0.99 | Cowden syndrome 4 | 615107 |
KMT2D | 162.1 | 0.99 | 0.99 | Kabuki syndrome 1 | 147920 |
KRAS | 72.1 | 0.99 | 0.96 | Bladder cancer, somatic, | 109800 |
KRAS | 72.1 | 0.99 | 0.96 | Breast cancer, somatic, | 114480 |
KRAS | 72.1 | 0.99 | 0.96 | Cardiofaciocutaneous syndrome 2 | 615278 |
KRAS | 72.1 | 0.99 | 0.96 | Gastric cancer, somatic, | 137215 |
KRAS | 72.1 | 0.99 | 0.96 | Leukemia, acute myeloid, | 601626 |
KRAS | 72.1 | 0.99 | 0.96 | Lung cancer, somatic, | 211980 |
KRAS | 72.1 | 0.99 | 0.96 | Noonan syndrome 3 | 609942 |
KRAS | 72.1 | 0.99 | 0.96 | Pancreatic carcinoma, somatic, | 260350 |
KRAS | 72.1 | 0.99 | 0.96 | RAS-associated autoimmune leukoproliferative disorder, | 614470 |
KRAS | 72.1 | 0.99 | 0.96 | Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, | 163200 |
KRT1 | 151.5 | 0.99 | 0.96 | Epidermolytic hyperkeratosis, | 113800 |
KRT1 | 151.5 | 0.99 | 0.96 | Ichthyosis histrix, Curth-Macklin type, | 146590 |
KRT1 | 151.5 | 0.99 | 0.96 | Ichthyosis, cyclic, with epidermolytic hyperkeratosis, | 607602 |
KRT1 | 151.5 | 0.99 | 0.96 | Keratosis palmoplantaris striata III, | 607654 |
KRT1 | 151.5 | 0.99 | 0.96 | Palmoplantar keratoderma, epidermolytic, | 144200 |
KRT1 | 151.5 | 0.99 | 0.96 | Palmoplantar keratoderma, nonepidermolytic, | 600962 |
KRT10 | 117.5 | 0.97 | 0.93 | Epidermolytic hyperkeratosis, | 113800 |
KRT10 | 117.5 | 0.97 | 0.93 | Ichthyosis with confetti, | 609165 |
KRT10 | 117.5 | 0.97 | 0.93 | Ichthyosis, cyclic, with epidermolytic hyperkeratosis, | 607602 |
KRT13 | 145.9 | 0.99 | 0.98 | White sponge nevus 2 | 615785 |
KRT14 | 60.4 | 0.89 | 0.82 | Dermatopathia pigmentosa reticularis, | 125595 |
KRT14 | 60.4 | 0.89 | 0.82 | Epidermolysis bullosa simplex, Dowling-Meara type, | 131760 |
KRT14 | 60.4 | 0.89 | 0.82 | Epidermolysis bullosa simplex, Koebner type, | 131900 |
KRT14 | 60.4 | 0.89 | 0.82 | Epidermolysis bullosa simplex, recessive 1 | 601001 |
KRT14 | 60.4 | 0.89 | 0.82 | Epidermolysis bullosa simplex, Weber-Cockayne type, | 131800 |
KRT14 | 60.4 | 0.89 | 0.82 | Naegeli-Franceschetti-Jadassohn syndrome, | 161000 |
KRT16 | 38.2 | 0.73 | 0.54 | Pachyonychia congenita 1 | 167200 |
KRT16 | 38.2 | 0.73 | 0.54 | Palmoplantar keratoderma, nonepidermolytic, focal, | 613000 |
KRT17 | 23.9 | 0.56 | 0.35 | Pachyonychia congenita 2 | 167210 |
KRT17 | 23.9 | 0.56 | 0.35 | Steatocystoma multiplex, | 184500 |
KRT2 | 143.9 | 0.99 | 0.99 | Ichthyosis bullosa of Siemens, | 146800 |
KRT4 | 130.9 | 1 | 0.99 | White sponge nevus 1 | 193900 |
KRT5 | 137.9 | 0.99 | 0.99 | Dowling-Degos disease 1 | 179850 |
KRT5 | 137.9 | 0.99 | 0.99 | Epidermolysis bullosa simplex, Dowling-Meara type, | 131760 |
KRT5 | 137.9 | 0.99 | 0.99 | Epidermolysis bullosa simplex, Koebner type, | 131900 |
KRT5 | 137.9 | 0.99 | 0.99 | Epidermolysis bullosa simplex, recessive 1 | 601001 |
KRT5 | 137.9 | 0.99 | 0.99 | Epidermolysis bullosa simplex, Weber-Cockayne type, | 131800 |
KRT5 | 137.9 | 0.99 | 0.99 | Epidermolysis bullosa simplex-MP, | 131960 |
KRT5 | 137.9 | 0.99 | 0.99 | Epidermylysis bullosa simplex-MCR, | 609352 |
KRT6A | 189.5 | 0.93 | 0.87 | Pachyonychia congenita 3 | 615726 |
KRT6B | 190.3 | 0.94 | 0.89 | Pachyonychia congenita 4 | 615728 |
KRT6C | 174.7 | 0.88 | 0.8 | Palmoplantar keratoderma, nonepidermolytic, focal or diffuse, | 615735 |
KRT71 | 154 | 1 | 0.99 | ?Hypotrichosis 13 | 615896 |
KRT74 | 156.6 | 1 | 0.99 | ?Ectodermal dysplasia 7 hair/nail type, | 614929 |
KRT74 | 156.6 | 1 | 0.99 | ?Hypotrichosis 3 | 613981 |
KRT74 | 156.6 | 1 | 0.99 | Woolly hair, autosomal dominant, | 194300 |
KRT75 | 145.1 | 1 | 0.99 | {Pseudofolliculitis barbae, susceptibility to}, | 612318 |
KRT81 | 98.3 | 0.98 | 0.94 | Monilethrix, | 158000 |
KRT83 | 84.5 | 0.98 | 0.9 | ?Monilethrix, | 158000 |
KRT85 | 112.3 | 0.98 | 0.93 | Ectodermal dysplasia 4 hair/nail type, | 602032 |
KRT86 | 103.4 | 0.99 | 0.94 | Monilethrix, | 158000 |
KRT9 | 85.2 | 0.97 | 0.94 | Palmoplantar keratoderma, epidermolytic, | 144200 |
LAMA3 | 173.5 | 0.99 | 0.99 | Epidermolysis bullosa, generalized atrophic benign, | 226650 |
LAMA3 | 173.5 | 0.99 | 0.99 | Epidermolysis bullosa, junctional, Herlitz type, | 226700 |
LAMA3 | 173.5 | 0.99 | 0.99 | Laryngoonychocutaneous syndrome, | 245660 |
LAMB3 | 131.6 | 1 | 0.99 | Amelogenesis imperfecta, type IA, | 104530 |
LAMB3 | 131.6 | 1 | 0.99 | Epidermolysis bullosa, junctional, Herlitz type, | 226700 |
LAMB3 | 131.6 | 1 | 0.99 | Epidermolysis bullosa, junctional, non-Herlitz type, | 226650 |
LAMC2 | 131.4 | 0.99 | 0.98 | Epidermolysis bullosa, junctional, Herlitz type, | 226700 |
LAMC2 | 131.4 | 0.99 | 0.98 | Epidermolysis bullosa, junctional, non-Herlitz type, | 226650 |
LAMTOR2 | 175.9 | 1 | 1 | Immunodeficiency due to defect in MAPBP-interacting protein, | 610798 |
LDHA | 60.1 | 0.92 | 0.86 | Glycogen storage disease XI, | 612933 |
LDLRAP1 | 168.7 | 0.99 | 0.96 | Hypercholesterolemia, familial, autosomal recessive, | 603813 |
LEMD3 | 111.7 | 0.95 | 0.9 | Buschke-Ollendorff syndrome, | 166700 |
LEMD3 | 111.7 | 0.95 | 0.9 | Melorheostosis with osteopoikilosis, | 155950 |
LEMD3 | 111.7 | 0.95 | 0.9 | Osteopoikilosis, | 166700 |
LIPH | 148.3 | 1 | 0.99 | Hypotrichosis 7 | 604379 |
LIPH | 148.3 | 1 | 0.99 | Woolly hair, autosomal recessive 2 with or without hypotrichosis, | 604379 |
LIPN | 155.4 | 0.99 | 0.96 | Ichthyosis, congenital, autosomal recessive 8 | 613943 |
LMBRD1 | 81.3 | 0.89 | 0.81 | Methylmalonic aciduria and homocystinuria, cblF type, | 277380 |
LMNA | 90.4 | 0.96 | 0.89 | Cardiomyopathy, dilated, 1A, | 115200 |
LMNA | 90.4 | 0.96 | 0.89 | Charcot-Marie-Tooth disease, type 2B1, | 605588 |
LMNA | 90.4 | 0.96 | 0.89 | Emery-Dreifuss muscular dystrophy 2 AD, | 181350 |
LMNA | 90.4 | 0.96 | 0.89 | Emery-Dreifuss muscular dystrophy 3 AR, | 616516 |
LMNA | 90.4 | 0.96 | 0.89 | Heart-hand syndrome, Slovenian type, | 610140 |
LMNA | 90.4 | 0.96 | 0.89 | Hutchinson-Gilford progeria, | 176670 |
LMNA | 90.4 | 0.96 | 0.89 | Lipodystrophy, familial partial, 2 | 151660 |
LMNA | 90.4 | 0.96 | 0.89 | Malouf syndrome, | 212112 |
LMNA | 90.4 | 0.96 | 0.89 | Mandibuloacral dysplasia, | 248370 |
LMNA | 90.4 | 0.96 | 0.89 | Muscular dystrophy, congenital, | 613205 |
LMNA | 90.4 | 0.96 | 0.89 | Muscular dystrophy, limb-girdle, type 1B, | 159001 |
LMNA | 90.4 | 0.96 | 0.89 | Restrictive dermopathy, lethal, | 275210 |
LMX1B | 130.3 | 0.99 | 0.95 | Nail-patella syndrome, | 161200 |
LONP1 | 168.1 | 0.97 | 0.95 | CODAS syndrome, | 600373 |
LOR | 21.7 | 0.88 | 0.54 | Vohwinkel syndrome with ichthyosis, | 604117 |
LPAR6 | 115.9 | 0.99 | 0.98 | Hypotrichosis 8 | 278150 |
LPAR6 | 115.9 | 0.99 | 0.98 | Woolly hair, autosomal recessive 1 with or without hypotrichosis, | 278150 |
LPIN2 | 129.6 | 0.99 | 0.99 | Majeed syndrome, | 609628 |
LTBP3 | 126.4 | 0.98 | 0.96 | Dental anomalies and short stature, | 601216 |
LTBP4 | 125.8 | 0.98 | 0.95 | Cutis laxa, autosomal recessive, type IC, | 613177 |
LYST | 151.3 | 0.97 | 0.94 | Chediak-Higashi syndrome, | 214500 |
LYZ | 192.2 | 1 | 1 | Amyloidosis, renal, | 105200 |
MAP2K1 | 107.3 | 0.99 | 0.95 | Cardiofaciocutaneous syndrome 3 | 615279 |
MAP2K2 | 118.5 | 0.97 | 0.92 | Cardiofaciocutaneous syndrome 4 | 615280 |
MBTPS2 | 142.6 | 0.99 | 0.97 | IFAP syndrome with or without BRESHECK syndrome, | 308205 |
MBTPS2 | 142.6 | 0.99 | 0.97 | Keratosis follicularis spinulosa decalvans, X-linked, | 308800 |
MBTPS2 | 142.6 | 0.99 | 0.97 | ?Olmsted syndrome, X-linked, | 300918 |
MED12 | 116.5 | 0.98 | 0.95 | Lujan-Fryns syndrome, | 309520 |
MED12 | 116.5 | 0.98 | 0.95 | Ohdo syndrome, X-linked, | 300895 |
MED12 | 116.5 | 0.98 | 0.95 | Opitz-Kaveggia syndrome, | 305450 |
MEFV | 131.1 | 0.95 | 0.91 | Familial Mediterranean fever, AD, | 134610 |
MEFV | 131.1 | 0.95 | 0.91 | Familial Mediterranean fever, AR, | 249100 |
MGP | 164.5 | 0.92 | 0.91 | Keutel syndrome, | 245150 |
MITF | 163 | 0.99 | 0.99 | Tietz albinism-deafness syndrome, | 103500 |
MITF | 163 | 0.99 | 0.99 | Waardenburg syndrome, type 2A, | 193510 |
MITF | 163 | 0.99 | 0.99 | Waardenburg syndrome/ocular albinism, digenic, | 103470 |
MITF | 163 | 0.99 | 0.99 | {Melanoma, cutaneous malignant, susceptibility to, 8}, | 614456 |
MLH1 | 188.5 | 1 | 0.99 | Colorectal cancer, hereditary nonpolyposis, type 2 | 609310 |
MLH1 | 188.5 | 1 | 0.99 | Mismatch repair cancer syndrome, | 276300 |
MLH1 | 188.5 | 1 | 0.99 | Muir-Torre syndrome, | 158320 |
MLPH | 104.8 | 0.99 | 0.96 | Griscelli syndrome, type 3 | 609227 |
MMACHC | 205.3 | 1 | 1 | Methylmalonic aciduria and homocystinuria, cblC type, | 277400 |
MMP2 | 172.4 | 0.99 | 0.99 | Multicentric osteolysis, nodulosis, and arthropathy, | 259600 |
MMP20 | 117.5 | 0.99 | 0.99 | Amelogenesis imperfecta, type IIA2, | 612529 |
MPLKIP | 87.3 | 0.94 | 0.81 | Trichothiodystrophy 4 nonphotosensitive, | 234050 |
MRE11A | 57.6 | 0.95 | 0.85 | Ataxia-telangiectasia-like disorder, | 604391 |
MSH2 | 122 | 0.98 | 0.92 | Colorectal cancer, hereditary nonpolyposis, type 1 | 120435 |
MSH2 | 122 | 0.98 | 0.92 | Mismatch repair cancer syndrome, | 276300 |
MSH2 | 122 | 0.98 | 0.92 | Muir-Torre syndrome, | 158320 |
MSX1 | 88.1 | 0.97 | 0.91 | Ectodermal dysplasia 3 Witkop type, | 189500 |
MSX1 | 88.1 | 0.97 | 0.91 | Orofacial cleft 5 | 608874 |
MSX1 | 88.1 | 0.97 | 0.91 | Tooth agenesis, selective, 1 with or without orofacial cleft, | 106600 |
MTOR | 152.8 | 1 | 0.99 | Smith-Kingsmore syndrome, | 616638 |
MUTYH | 164.2 | 0.99 | 0.99 | Adenomas, multiple colorectal, | 608456 |
MUTYH | 164.2 | 0.99 | 0.99 | Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas, | 132600 |
MUTYH | 164.2 | 0.99 | 0.99 | Gastric cancer, somatic, | 613659 |
MVD | 116.4 | 1 | 0.99 | Porokeratosis 7 multiple types, | 614714 |
MVK | 146.1 | 1 | 0.99 | Hyper-IgD syndrome, | 260920 |
MVK | 146.1 | 1 | 0.99 | Mevalonic aciduria, | 610377 |
MVK | 146.1 | 1 | 0.99 | Porokeratosis 3 multiple types, | 175900 |
MYH8 | 148.6 | 0.99 | 0.99 | Carney complex variant, | 608837 |
MYH8 | 148.6 | 0.99 | 0.99 | Trismus-pseudocamptodactyly syndrome, | 158300 |
MYO5A | 142.9 | 0.99 | 0.97 | Griscelli syndrome, type 1 | 214450 |
NAA10 | 111 | 0.99 | 0.96 | Ogden syndrome, | 300855 |
NAA10 | 111 | 0.99 | 0.96 | ?Microphthalmia, syndromic 1 | 309800 |
NAGA | 162.6 | 1 | 1 | Kanzaki disease, | 609242 |
NAGA | 162.6 | 1 | 1 | Schindler disease, type I, | 609241 |
NAGA | 162.6 | 1 | 1 | Schindler disease, type III, | 609241 |
NBAS | 159.5 | 0.99 | 0.97 | Infantile liver failure syndrome 2 | 616483 |
NBAS | 159.5 | 0.99 | 0.97 | Short stature, optic nerve atrophy, and Pelger-Huet anomaly, | 614800 |
NCSTN | 127.9 | 1 | 0.99 | Acne inversa, familial, 1 | 142690 |
NDUFB11 | 101.4 | 0.94 | 0.84 | Linear skin defects with multiple congenital anomalies 3 | 300952 |
NF1 | 140.5 | 0.93 | 0.89 | Leukemia, juvenile myelomonocytic, | 607785 |
NF1 | 140.5 | 0.93 | 0.89 | Neurofibromatosis, familial spinal, | 162210 |
NF1 | 140.5 | 0.93 | 0.89 | Neurofibromatosis, type 1 | 162200 |
NF1 | 140.5 | 0.93 | 0.89 | Neurofibromatosis-Noonan syndrome, | 601321 |
NF1 | 140.5 | 0.93 | 0.89 | Watson syndrome, | 193520 |
NFKBIA | 117.7 | 0.98 | 0.94 | Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, | 612132 |
NHP2 | 87.3 | 0.99 | 0.98 | Dyskeratosis congenita, autosomal recessive 2 | 613987 |
NIPAL4 | 151.5 | 0.99 | 0.94 | Ichthyosis, congenital, autosomal recessive 6 | 612281 |
NIPBL | 129.3 | 0.96 | 0.94 | Cornelia de Lange syndrome 1 | 122470 |
NLRP1 | 137 | 0.99 | 0.96 | ?Corneal intraepithelial dyskeratosis and ectodermal dysplasia, | 615225 |
NLRP1 | 137 | 0.99 | 0.96 | {Vitiligo-associated multiple autoimmune disease susceptibility 1}, | 606579 |
NLRP3 | 153.2 | 1 | 0.99 | CINCA syndrome, | 607115 |
NLRP3 | 153.2 | 1 | 0.99 | Familial cold-induced inflammatory syndrome 1 | 120100 |
NLRP3 | 153.2 | 1 | 0.99 | Muckle-Wells syndrome, | 191900 |
NME1 | 109.2 | 0.99 | 0.98 | Neuroblastoma, | 256700 |
NOD2 | 148.9 | 1 | 0.99 | Blau syndrome, | 186580 |
NOD2 | 148.9 | 1 | 0.99 | Sarcoidosis, early-onset, | 609464 |
NOD2 | 148.9 | 1 | 0.99 | {Inflammatory bowel disease 1}, | 266600 |
NOD2 | 148.9 | 1 | 0.99 | {Psoriatic arthritis, susceptibility to}, | 607507 |
NOP10 | 189.4 | 1 | 1 | Dyskeratosis congenita, autosomal recessive 1 | 224230 |
NOTCH1 | 150.2 | 0.99 | 0.98 | Adams-Oliver syndrome 5 | 616028 |
NOTCH1 | 150.2 | 0.99 | 0.98 | Aortic valve disease 1 | 109730 |
NRAS | 205.7 | 1 | 1 | Colorectal cancer, somatic, | 114500 |
NRAS | 205.7 | 1 | 1 | Epidermal nevus, somatic, | 162900 |
NRAS | 205.7 | 1 | 1 | Melanocytic nevus syndrome, congenital, somatic, | 137550 |
NRAS | 205.7 | 1 | 1 | Neurocutaneous melanosis, somatic, | 249400 |
NRAS | 205.7 | 1 | 1 | Noonan syndrome 6 | 613224 |
NRAS | 205.7 | 1 | 1 | Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, | 163200 |
NRAS | 205.7 | 1 | 1 | Thyroid carcinoma, follicular, somatic, | 188470 |
NRAS | 205.7 | 1 | 1 | ?RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic, | 614470 |
NSD1 | 172.3 | 1 | 0.99 | Beckwith-Wiedemann syndrome, | 130650 |
NSD1 | 172.3 | 1 | 0.99 | Leukemia, acute myeloid, | 601626 |
NSD1 | 172.3 | 1 | 0.99 | Sotos syndrome 1 | 117550 |
NSDHL | 205.2 | 0.99 | 0.99 | CHILD syndrome, | 308050 |
NSDHL | 205.2 | 0.99 | 0.99 | CK syndrome, | 300831 |
OCA2 | 147.7 | 0.98 | 0.96 | Albinism, brown oculocutaneous, | 203200 |
OCA2 | 147.7 | 0.98 | 0.96 | Albinism, oculocutaneous, type II, | 203200 |
OCA2 | 147.7 | 0.98 | 0.96 | [Skin/hair/eye pigmentation 1 blond/brown hair], | 227220 |
OCA2 | 147.7 | 0.98 | 0.96 | [Skin/hair/eye pigmentation 1 blue/nonblue eyes], | 227220 |
ODAM | 130.1 | 0.96 | 0.88 | No OMIM phenotype | 227220 |
OFD1 | 56.1 | 0.84 | 0.71 | Joubert syndrome 10 | 300804 |
OFD1 | 56.1 | 0.84 | 0.71 | Orofaciodigital syndrome I, | 311200 |
OFD1 | 56.1 | 0.84 | 0.71 | Simpson-Golabi-Behmel syndrome, type 2 | 300209 |
OFD1 | 56.1 | 0.84 | 0.71 | ?Retinitis pigmentosa 23 | 300424 |
OSMR | 159.9 | 1 | 0.99 | Amyloidosis, primary localized cutaneous, 1 | 105250 |
PAH | 191.3 | 1 | 1 | Phenylketonuria, | 261600 |
PAH | 191.3 | 1 | 1 | [Hyperphenylalaninemia, non-PKU mild], | 261600 |
PALB2 | 180.1 | 1 | 0.99 | Fanconi anemia, complementation group N, | 610832 |
PALB2 | 180.1 | 1 | 0.99 | {Breast cancer, susceptibility to}, | 114480 |
PALB2 | 180.1 | 1 | 0.99 | {Pancreatic cancer, susceptibility to, 3}, | 613348 |
PAX3 | 129.7 | 0.99 | 0.99 | Craniofacial-deafness-hand syndrome, | 122880 |
PAX3 | 129.7 | 0.99 | 0.99 | Rhabdomyosarcoma 2 alveolar, | 268220 |
PAX3 | 129.7 | 0.99 | 0.99 | Waardenburg syndrome, type 1 | 193500 |
PAX3 | 129.7 | 0.99 | 0.99 | Waardenburg syndrome, type 3 | 148820 |
PAX9 | 254.3 | 0.99 | 0.98 | Tooth agenesis, selective, 3 | 604625 |
PCNA | 102.9 | 0.99 | 0.98 | ?Ataxia-telangiectasia-like disorder, | 615919 |
PDGFB | 107.8 | 1 | 0.99 | Basal ganglia calcification, idiopathic, 5 | 615483 |
PDGFB | 107.8 | 1 | 0.99 | Dermatofibrosarcoma protuberans, | 607907 |
PDGFB | 107.8 | 1 | 0.99 | Meningioma, SIS-related, | 607174 |
PDGFRB | 166.4 | 0.99 | 0.97 | Basal ganglia calcification, idiopathic, 4 | 615007 |
PDGFRB | 166.4 | 0.99 | 0.97 | Kosaki overgrowth syndrome, | 616592 |
PDGFRB | 166.4 | 0.99 | 0.97 | Myeloproliferative disorder with eosinophilia, | 131440 |
PDGFRB | 166.4 | 0.99 | 0.97 | Myofibromatosis, infantile, 1 | 228550 |
PDGFRB | 166.4 | 0.99 | 0.97 | Premature aging syndrome, Penttinen type, | 601812 |
PEPD | 121.4 | 0.99 | 0.98 | Prolidase deficiency, | 170100 |
PEX7 | 138.5 | 0.89 | 0.85 | Peroxisome biogenesis disorder 9B, | 614879 |
PEX7 | 138.5 | 0.89 | 0.85 | Rhizomelic chondrodysplasia punctata, type 1 | 215100 |
PHEX | 145.5 | 0.98 | 0.96 | Hypophosphatemic rickets, X-linked dominant, | 307800 |
PHGDH | 138.6 | 1 | 0.99 | Neu-Laxova syndrome 1 | 256520 |
PHGDH | 138.6 | 1 | 0.99 | Phosphoglycerate dehydrogenase deficiency, | 601815 |
PHYH | 86.5 | 0.98 | 0.92 | Refsum disease, | 266500 |
PIEZO1 | 156.3 | 0.99 | 0.97 | Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, | 266500 |
PIEZO1 | 156.3 | 0.99 | 0.97 | Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, | 194380 |
PIEZO1 | 156.3 | 0.99 | 0.97 | Lymphedema, hereditary, III, | 616843 |
PIGA | 102.1 | 0.92 | 0.84 | Multiple congenital anomalies-hypotonia-seizures syndrome 2 | 300868 |
PIGA | 102.1 | 0.92 | 0.84 | Paroxysmal nocturnal hemoglobinuria, somatic, | 300818 |
PIGN | 128.6 | 0.95 | 0.89 | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | 614080 |
PIGV | 171.1 | 1 | 1 | Hyperphosphatasia with mental retardation syndrome 1 | 239300 |
PIK3CA | 136.5 | 0.99 | 0.98 | Breast cancer, somatic, | 114480 |
PIK3CA | 136.5 | 0.99 | 0.98 | CLOVE syndrome, somatic, | 612918 |
PIK3CA | 136.5 | 0.99 | 0.98 | Colorectal cancer, somatic, | 114500 |
PIK3CA | 136.5 | 0.99 | 0.98 | Cowden syndrome 5 | 615108 |
PIK3CA | 136.5 | 0.99 | 0.98 | Gastric cancer, somatic, | 613659 |
PIK3CA | 136.5 | 0.99 | 0.98 | Hepatocellular carcinoma, somatic, | 114550 |
PIK3CA | 136.5 | 0.99 | 0.98 | Keratosis, seborrheic, somatic, | 182000 |
PIK3CA | 136.5 | 0.99 | 0.98 | Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, | 602501 |
PIK3CA | 136.5 | 0.99 | 0.98 | Nevus, epidermal, somatic, | 162900 |
PIK3CA | 136.5 | 0.99 | 0.98 | Nonsmall cell lung cancer, somatic, | 211980 |
PIK3CA | 136.5 | 0.99 | 0.98 | Ovarian cancer, somatic, | 167000 |
PITX2 | 155.7 | 0.99 | 0.97 | Axenfeld-Rieger syndrome, type 1 | 180500 |
PITX2 | 155.7 | 0.99 | 0.97 | Iridogoniodysgenesis, type 2 | 137600 |
PITX2 | 155.7 | 0.99 | 0.97 | Peters anomaly, | 604229 |
PITX2 | 155.7 | 0.99 | 0.97 | Ring dermoid of cornea, | 180550 |
PKP1 | 135.1 | 0.99 | 0.98 | Ectodermal dysplasia/skin fragility syndrome, | 604536 |
PLCD1 | 124.1 | 0.99 | 0.97 | Nail disorder, nonsyndromic congenital, 3 (leukonychia), | 151600 |
PLCG2 | 133.6 | 1 | 0.99 | Autoinflammation, antibody deficiency, and immune dysregulation syndrome, | 614878 |
PLCG2 | 133.6 | 1 | 0.99 | Familial cold autoinflammatory syndrome 3 | 614468 |
PLEC | 114.2 | 0.99 | 0.98 | Epidermolysis bullosa simplex with muscular dystrophy, | 226670 |
PLEC | 114.2 | 0.99 | 0.98 | Epidermolysis bullosa simplex with pyloric atresia, | 612138 |
PLEC | 114.2 | 0.99 | 0.98 | Epidermolysis bullosa simplex, Ogna type, | 131950 |
PLEC | 114.2 | 0.99 | 0.98 | Muscular dystrophy, limb-girdle, type 2Q, | 613723 |
PLEC | 114.2 | 0.99 | 0.98 | ?Epidermolysis bullosa simplex with nail dystrophy, | 616487 |
PLG | 133.1 | 0.87 | 0.87 | Dysplasminogenemia, | 217090 |
PLG | 133.1 | 0.87 | 0.87 | Plasminogen deficiency, type I, | 217090 |
PLIN1 | 92.4 | 0.97 | 0.89 | Lipodystrophy, familial partial, type 4 | 613877 |
PLOD1 | 149.8 | 1 | 0.99 | Ehlers-Danlos syndrome, type VI, | 225400 |
PMS2 | 95.9 | 0.83 | 0.8 | Colorectal cancer, hereditary nonpolyposis, type 4 | 614337 |
PMS2 | 95.9 | 0.83 | 0.8 | Mismatch repair cancer syndrome, | 276300 |
PMVK | 124 | 1 | 0.99 | Porokeratosis 1 multiple types, | 175800 |
PNPLA1 | 194.6 | 0.99 | 0.98 | Ichthyosis, congenital, autosomal recessive 10 | 615024 |
PNPLA2 | 127.6 | 0.99 | 0.97 | Neutral lipid storage disease with myopathy, | 610717 |
POC1A | 150.5 | 1 | 0.99 | Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, | 614813 |
POFUT1 | 154.1 | 0.99 | 0.97 | Dowling-Degos disease 2 | 615327 |
POGLUT1 | 146.8 | 0.99 | 0.95 | Dowling-Degos disease 4 | 615696 |
POLD1 | 108.5 | 0.94 | 0.91 | Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, | 615381 |
POLD1 | 108.5 | 0.94 | 0.91 | {Colorectal cancer, susceptibility to, 10}, | 612591 |
POLH | 171.7 | 1 | 0.99 | Xeroderma pigmentosum, variant type, | 278750 |
POLR1C | 124.8 | 0.99 | 0.95 | Leukodystrophy, hypomyelinating, 11 | 616494 |
POLR1C | 124.8 | 0.99 | 0.95 | Treacher Collins syndrome 3 | 248390 |
POLR1D | 196.1 | 1 | 1 | Treacher Collins syndrome 2 | 613717 |
POLR3A | 162.2 | 1 | 0.99 | Leukodystrophy, hypomyelinating, 7 with or without oligodontia and/or hypogonadotropic | 613717 |
POLR3A | 162.2 | 1 | 0.99 | hypogonadism, | 607694 |
POLR3B | 168.9 | 0.99 | 0.98 | Leukodystrophy, hypomyelinating, 8 with or without oligodontia and/or hypogonadotropic | 607694 |
POLR3B | 168.9 | 0.99 | 0.98 | hypogonadism, | 614381 |
POMC | 101.8 | 1 | 0.99 | Obesity, adrenal insufficiency, and red hair due to POMC deficiency, | 609734 |
POMC | 101.8 | 1 | 0.99 | {Obesity, early-onset, susceptibility to}, | 601665 |
POMP | 146.6 | 0.91 | 0.87 | Keratosis linearis with ichthyosis congenita and sclerosing keratoderma, | 601952 |
PORCN | 145.4 | 1 | 0.99 | Focal dermal hypoplasia, | 305600 |
PPOX | 108.1 | 0.99 | 0.97 | Porphyria variegata, | 176200 |
PQBP1 | 174.3 | 0.97 | 0.96 | Renpenning syndrome, | 309500 |
PRKAR1A | 102.8 | 0.97 | 0.91 | Acrodysostosis 1 with or without hormone resistance, | 101800 |
PRKAR1A | 102.8 | 0.97 | 0.91 | Adrenocortical tumor, somatic, | 101800 |
PRKAR1A | 102.8 | 0.97 | 0.91 | Carney complex, type 1 | 160980 |
PRKAR1A | 102.8 | 0.97 | 0.91 | Myxoma, intracardiac, | 255960 |
PRKAR1A | 102.8 | 0.97 | 0.91 | Pigmented nodular adrenocortical disease, primary, 1 | 610489 |
PSEN1 | 161.6 | 0.99 | 0.98 | Acne inversa, familial, 3 | 613737 |
PSEN1 | 161.6 | 0.99 | 0.98 | Alzheimer disease, type 3 | 607822 |
PSEN1 | 161.6 | 0.99 | 0.98 | Alzheimer disease, type 3 with spastic paraparesis and apraxia, | 607822 |
PSEN1 | 161.6 | 0.99 | 0.98 | Alzheimer disease, type 3 with spastic paraparesis and unusual plaques, | 607822 |
PSEN1 | 161.6 | 0.99 | 0.98 | Cardiomyopathy, dilated, 1U, | 613694 |
PSEN1 | 161.6 | 0.99 | 0.98 | Dementia, frontotemporal, | 600274 |
PSEN1 | 161.6 | 0.99 | 0.98 | Pick disease, | 172700 |
PSENEN | 93.7 | 0.99 | 0.99 | Acne inversa, familial, 2 | 613736 |
PSMB8 | 16.1 | 0.57 | 0.25 | Autoinflammation, lipodystrophy, and dermatosis syndrome, | 256040 |
PSTPIP1 | 99.8 | 0.99 | 0.95 | Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, | 604416 |
PTCH1 | 138.6 | 0.98 | 0.96 | Basal cell carcinoma, somatic, | 605462 |
PTCH1 | 138.6 | 0.98 | 0.96 | Basal cell nevus syndrome, | 109400 |
PTCH1 | 138.6 | 0.98 | 0.96 | Holoprosencephaly-7, | 610828 |
PTCH2 | 130.2 | 0.99 | 0.97 | Basal cell carcinoma, somatic, | 605462 |
PTCH2 | 130.2 | 0.99 | 0.97 | Basal cell nevus syndrome, | 109400 |
PTCH2 | 130.2 | 0.99 | 0.97 | Medulloblastoma, | 155255 |
PTDSS1 | 151.7 | 1 | 1 | Lenz-Majewski hyperostotic dwarfism, | 151050 |
PTEN | 152.4 | 0.99 | 0.98 | Bannayan-Riley-Ruvalcaba syndrome, | 153480 |
PTEN | 152.4 | 0.99 | 0.98 | Cowden syndrome 1 | 158350 |
PTEN | 152.4 | 0.99 | 0.98 | Endometrial carcinoma, somatic, | 608089 |
PTEN | 152.4 | 0.99 | 0.98 | Lhermitte-Duclos syndrome, | 158350 |
PTEN | 152.4 | 0.99 | 0.98 | Macrocephaly/autism syndrome, | 605309 |
PTEN | 152.4 | 0.99 | 0.98 | Malignant melanoma, somatic, | 155600 |
PTEN | 152.4 | 0.99 | 0.98 | PTEN hamartoma tumor syndrome | 155600 |
PTEN | 152.4 | 0.99 | 0.98 | Squamous cell carcinoma, head and neck, somatic, | 275355 |
PTEN | 152.4 | 0.99 | 0.98 | VATER association with macrocephaly and ventriculomegaly, | 276950 |
PTEN | 152.4 | 0.99 | 0.98 | {Glioma susceptibility 2}, | 613028 |
PTEN | 152.4 | 0.99 | 0.98 | {Meningioma}, | 607174 |
PTEN | 152.4 | 0.99 | 0.98 | {Prostate cancer, somatic}, | 176807 |
PTHLH | 146.8 | 0.98 | 0.89 | Brachydactyly, type E2, | 613382 |
PTHLH | 146.8 | 0.98 | 0.89 | Humoral hypercalcemia of malignancy | 613382 |
PTPN11 | 101.2 | 0.96 | 0.9 | LEOPARD syndrome 1 | 151100 |
PTPN11 | 101.2 | 0.96 | 0.9 | Leukemia, juvenile myelomonocytic, somatic, | 607785 |
PTPN11 | 101.2 | 0.96 | 0.9 | Metachondromatosis, | 156250 |
PTPN11 | 101.2 | 0.96 | 0.9 | Noonan syndrome 1 | 163950 |
PTPN14 | 199.6 | 0.99 | 0.98 | Choanal atresia and lymphedema, | 613611 |
PTPRF | 194.8 | 1 | 1 | ?Breasts and/or nipples, aplasia or hypoplasia of, 2 | 616001 |
PTRF | 142.9 | 0.99 | 0.98 | Lipodystrophy, congenital generalized, type 4 | 613327 |
PVRL1 | 163 | 1 | 0.99 | Cleft lip/palate-ectodermal dysplasia syndrome, | 225060 |
PVRL1 | 163 | 1 | 0.99 | Orofacial cleft 7 | 225060 |
PVRL4 | 146.8 | 1 | 0.99 | Ectodermal dysplasia-syndactyly syndrome 1 | 613573 |
PYCR1 | 105.4 | 0.99 | 0.94 | Cutis laxa, autosomal recessive, type IIB, | 612940 |
PYCR1 | 105.4 | 0.99 | 0.94 | Cutis laxa, autosomal recessive, type IIIB, | 614438 |
RAB23 | 121.6 | 0.99 | 0.98 | Carpenter syndrome, | 201000 |
RAB27A | 178 | 1 | 0.98 | Griscelli syndrome, type 2 | 607624 |
RAD21 | 97.7 | 0.99 | 0.96 | Cornelia de Lange syndrome 4 | 614701 |
RAD50 | 106.1 | 0.92 | 0.85 | Nijmegen breakage syndrome-like disorder, | 613078 |
RAF1 | 138 | 1 | 0.99 | Cardiomyopathy, dilated, 1NN, | 615916 |
RAF1 | 138 | 1 | 0.99 | LEOPARD syndrome 2 | 611554 |
RAF1 | 138 | 1 | 0.99 | Noonan syndrome 5 | 611553 |
RAG1 | 230.7 | 1 | 1 | Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, | 611553 |
RAG1 | 230.7 | 1 | 1 | and autoimmunity, | 609889 |
RAG1 | 230.7 | 1 | 1 | Combined cellular and humoral immune defects with granulomas, | 233650 |
RAG1 | 230.7 | 1 | 1 | Omenn syndrome, | 603554 |
RAG1 | 230.7 | 1 | 1 | Severe combined immunodeficiency, B cell-negative, | 601457 |
RAG2 | 258.8 | 1 | 0.99 | Combined cellular and humoral immune defects with granulomas, | 233650 |
RAG2 | 258.8 | 1 | 0.99 | Omenn syndrome, | 603554 |
RAG2 | 258.8 | 1 | 0.99 | Severe combined immunodeficiency, B cell-negative, | 601457 |
RAI1 | 142.2 | 1 | 0.99 | Smith-Magenis syndrome, | 182290 |
RBBP8 | 112.7 | 0.99 | 0.95 | Jawad syndrome, | 251255 |
RBBP8 | 112.7 | 0.99 | 0.95 | Pancreatic carcinoma, somatic | 251255 |
RBBP8 | 112.7 | 0.99 | 0.95 | Seckel syndrome 2 | 606744 |
RBM28 | 160.7 | 1 | 1 | ?Alopecia, neurologic defects, and endocrinopathy syndrome, | 612079 |
RBP4 | 120.7 | 0.98 | 0.96 | Microphthalmia, isolated, with coloboma 10 | 616428 |
RBP4 | 120.7 | 0.98 | 0.96 | Retinal dystrophy, iris coloboma, and comedogenic acne syndrome, | 615147 |
RBPJ | 86.4 | 0.93 | 0.85 | Adams-Oliver syndrome 3 | 614814 |
RECQL4 | 150 | 0.98 | 0.97 | Baller-Gerold syndrome, | 218600 |
RECQL4 | 150 | 0.98 | 0.97 | RAPADILINO syndrome, | 266280 |
RECQL4 | 150 | 0.98 | 0.97 | Rothmund-Thomson syndrome, | 268400 |
RHBDF2 | 113.1 | 0.99 | 0.98 | Tylosis with esophageal cancer, | 148500 |
RIN2 | 122.2 | 0.99 | 0.99 | Macrocephaly, alopecia, cutis laxa, and scoliosis, | 613075 |
RIPK4 | 157.6 | 0.99 | 0.99 | Popliteal pterygium syndrome, Bartsocas-Papas type, | 263650 |
RIPK4 | 157.6 | 0.99 | 0.99 | RMRP NC NC NC Anauxetic dysplasia, | 607095 |
RIPK4 | 157.6 | 0.99 | 0.99 | Cartilage-hair hypoplasia, | 250250 |
RIPK4 | 157.6 | 0.99 | 0.99 | Metaphyseal dysplasia without hypotrichosis, | 250460 |
RNASEH2A | 149.3 | 1 | 0.99 | Aicardi-Goutieres syndrome 4 | 610333 |
RNASEH2B | 125.1 | 0.94 | 0.84 | Aicardi-Goutieres syndrome 2 | 610181 |
RNASEH2C | 207.6 | 0.99 | 0.97 | Aicardi-Goutieres syndrome 3 | 610329 |
RNASEH2C | 207.6 | 0.99 | 0.97 | RNU4ATAC NC NC NC Microcephalic osteodysplastic primordial dwarfism, type I, | 210710 |
RNASEH2C | 207.6 | 0.99 | 0.97 | Roifman syndrome, | 616651 |
ROGDI | 134 | 0.97 | 0.95 | Kohlschutter-Tonz syndrome, | 226750 |
RPL21 | 75 | 0.72 | 0.57 | Hypotrichosis 12 | 615885 |
RSPO1 | 123.9 | 1 | 0.99 | Palmoplantar hyperkeratosis and true hermaphroditism, | 610644 |
RSPO1 | 123.9 | 1 | 0.99 | Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal, | 610644 |
RSPO4 | 118.5 | 1 | 0.98 | Anonychia congenita, | 206800 |
RTEL1 | 127.4 | 0.99 | 0.96 | Dyskeratosis congenita, autosomal dominant 4 | 615190 |
RTEL1 | 127.4 | 0.99 | 0.96 | Dyskeratosis congenita, autosomal recessive 5 | 615190 |
RTEL1 | 127.4 | 0.99 | 0.96 | Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3 | 616373 |
RUNX2 | 106.2 | 0.74 | 0.74 | Cleidocranial dysplasia, | 119600 |
RUNX2 | 106.2 | 0.74 | 0.74 | Cleidocranial dysplasia, forme fruste, dental anomalies only, | 119600 |
RUNX2 | 106.2 | 0.74 | 0.74 | Cleidocranial dysplasia, forme fruste, with brachydactyly, | 119600 |
RUNX2 | 106.2 | 0.74 | 0.74 | Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly, | 156510 |
SAMD9 | 183.8 | 0.99 | 0.98 | MIRAGE syndrome, | 617053 |
SAMD9 | 183.8 | 0.99 | 0.98 | Tumoral calcinosis, familial, normophosphatemic, | 610455 |
SAMHD1 | 149.9 | 0.99 | 0.98 | Aicardi-Goutieres syndrome 5 | 612952 |
SAMHD1 | 149.9 | 0.99 | 0.98 | ?Chilblain lupus 2 | 614415 |
SART3 | 142.7 | 0.99 | 0.98 | No OMIM phenotype | 614415 |
SART3 | 142.7 | 0.99 | 0.98 | Disseminated superficial actinic porokeratosis (Zhang -2005 Br J Dermatol 152,658) | 614415 |
SASH1 | 151.8 | 0.98 | 0.96 | No OMIM phenotype | 614415 |
SASH1 | 151.8 | 0.98 | 0.96 | Lentiginosis, autosomal dominant (Shellman -2015 J Invest Dermatol 135,3192) | 614415 |
SASH1 | 151.8 | 0.98 | 0.96 | Pigmentation defects, palmoplantar keratoderma and skin carcinoma (Courcet -2015 Eur J Hum Genet | 614415 |
SASH1 | 151.8 | 0.98 | 0.96 | 23,957) | 614415 |
SAT1 | 162.6 | 0.99 | 0.98 | No OMIM phenotype | 614415 |
SAT1 | 162.6 | 0.99 | 0.98 | Keratosis follicularis spinulosa decalvans (Gimelli -2002 Hum Genet 111,235) | 614415 |
SATB2 | 120.1 | 0.98 | 0.93 | Glass syndrome, | 612313 |
SCN10A | 194.2 | 0.99 | 0.99 | Episodic pain syndrome, familial, 2 | 615551 |
SCN11A | 155 | 0.99 | 0.97 | Episodic pain syndrome, familial, 3 | 615552 |
SCN11A | 155 | 0.99 | 0.97 | Neuropathy, hereditary sensory and autonomic, type VII, | 615548 |
SCN9A | 160.5 | 0.98 | 0.96 | Epilepsy, generalized, with febrile seizures plus, type 7 | 613863 |
SCN9A | 160.5 | 0.98 | 0.96 | Erythermalgia, primary, | 133020 |
SCN9A | 160.5 | 0.98 | 0.96 | Febrile seizures, familial, 3B, | 613863 |
SCN9A | 160.5 | 0.98 | 0.96 | HSAN2D, autosomal recessive, | 243000 |
SCN9A | 160.5 | 0.98 | 0.96 | Insensitivity to pain, congenital, | 243000 |
SCN9A | 160.5 | 0.98 | 0.96 | Paroxysmal extreme pain disorder, | 167400 |
SCN9A | 160.5 | 0.98 | 0.96 | Small fiber neuropathy, | 133020 |
SCN9A | 160.5 | 0.98 | 0.96 | {Dravet syndrome, modifier of}, | 607208 |
SEC23B | 185.2 | 0.97 | 0.96 | Cowden syndrome 7 | 616858 |
SEC23B | 185.2 | 0.97 | 0.96 | Dyserythropoietic anemia, congenital, type II, | 224100 |
SERPINB7 | 147.9 | 0.99 | 0.99 | Palmoplantar keratoderma, Nagashima type, | 615598 |
SERPINB8 | 167.2 | 1 | 0.99 | Peeling skin syndrome 5, | 617115 |
SERPINH1 | 171 | 1 | 1 | ?Osteogenesis imperfecta, type X, | 613848 |
SERPINH1 | 171 | 1 | 1 | {Preterm premature rupture of the membranes, susceptibility to}, | 610504 |
SHOC2 | 148.9 | 0.99 | 0.98 | Noonan-like syndrome with loose anagen hair, | 607721 |
SKI | 90.1 | 0.98 | 0.95 | Shprintzen-Goldberg syndrome, | 182212 |
SKIV2L | 26.9 | 0.8 | 0.57 | Trichohepatoenteric syndrome 2 | 614602 |
SLC17A9 | 130.3 | 0.95 | 0.95 | Porokeratosis 8 disseminated superficial actinic type, | 616063 |
SLC24A4 | 143 | 0.99 | 0.98 | Amelogenesis imperfecta, type IIA5, | 615887 |
SLC24A4 | 143 | 0.99 | 0.98 | [Skin/hair/eye pigmentation 6 blond/brown hair], | 210750 |
SLC24A4 | 143 | 0.99 | 0.98 | [Skin/hair/eye pigmentation 6 blue/green eyes], | 210750 |
SLC24A5 | 123 | 0.98 | 0.94 | Albinism, oculocutaneous, type VI, | 113750 |
SLC24A5 | 123 | 0.98 | 0.94 | [Skin/hair/eye pigmentation 4 fair/dark skin], | 113750 |
SLC26A2 | 266 | 1 | 1 | Achondrogenesis Ib, | 600972 |
SLC26A2 | 266 | 1 | 1 | Atelosteogenesis II, | 256050 |
SLC26A2 | 266 | 1 | 1 | De la Chapelle dysplasia, | 256050 |
SLC26A2 | 266 | 1 | 1 | Diastrophic dysplasia, | 222600 |
SLC26A2 | 266 | 1 | 1 | Diastrophic dysplasia, broad bone-platyspondylic variant, | 222600 |
SLC26A2 | 266 | 1 | 1 | Epiphyseal dysplasia, multiple, 4 | 226900 |
SLC27A4 | 166.2 | 0.99 | 0.99 | Ichthyosis prematurity syndrome, | 608649 |
SLC29A3 | 226.4 | 0.99 | 0.99 | Histiocytosis-lymphadenopathy plus syndrome, | 602782 |
SLC2A10 | 171.2 | 1 | 0.99 | Arterial tortuosity syndrome, | 208050 |
SLC39A13 | 124.2 | 0.99 | 0.97 | Spondylocheirodysplasia, Ehlers-Danlos syndrome-like, | 612350 |
SLC39A4 | 88.4 | 0.99 | 0.96 | Acrodermatitis enteropathica, | 201100 |
SLC45A2 | 146.2 | 0.99 | 0.99 | Albinism, oculocutaneous, type IV, | 606574 |
SLC45A2 | 146.2 | 0.99 | 0.99 | [Skin/hair/eye pigmentation 5 black/nonblack hair], | 227240 |
SLC45A2 | 146.2 | 0.99 | 0.99 | [Skin/hair/eye pigmentation 5 dark/fair skin], | 227240 |
SLC45A2 | 146.2 | 0.99 | 0.99 | [Skin/hair/eye pigmentation 5 dark/light eyes], | 227240 |
SLC4A4 | 150.3 | 0.99 | 0.98 | Renal tubular acidosis, proximal, with ocular abnormalities, | 604278 |
SLC6A19 | 173.8 | 0.99 | 0.99 | Hartnup disorder, | 234500 |
SLC6A19 | 173.8 | 0.99 | 0.99 | Hyperglycinuria, | 138500 |
SLC6A19 | 173.8 | 0.99 | 0.99 | Iminoglycinuria, digenic, | 242600 |
SLC7A7 | 127.2 | 1 | 1 | Lysinuric protein intolerance, | 222700 |
SLCO2A1 | 114.9 | 0.99 | 0.99 | Hypertrophic osteoarthropathy, primary, autosomal recessive 2 | 614441 |
SLURP1 | 112.5 | 0.99 | 0.94 | Meleda disease, | 248300 |
SLX4 | 127.4 | 1 | 0.99 | Fanconi anemia, complementation group P, | 613951 |
SMAD3 | 142.2 | 0.99 | 0.98 | Loeys-Dietz syndrome 3 | 613795 |
SMARCA2 | 131.1 | 0.96 | 0.94 | Nicolaides-Baraitser syndrome, | 601358 |
SMARCA4 | 156.7 | 0.99 | 0.98 | Coffin-Siris syndrome 4 | 614609 |
SMARCA4 | 156.7 | 0.99 | 0.98 | {Rhabdoid tumor predisposition syndrome 2}, | 613325 |
SMARCAD1 | 88.2 | 0.98 | 0.92 | Adermatoglyphia, | 136000 |
SMARCAL1 | 148.2 | 1 | 0.99 | Schimke immunoosseous dysplasia, | 242900 |
SMARCB1 | 248.9 | 1 | 1 | Coffin-Siris syndrome 3 | 614608 |
SMARCB1 | 248.9 | 1 | 1 | Rhabdoid tumors, somatic, | 609322 |
SMARCB1 | 248.9 | 1 | 1 | {Rhabdoid predisposition syndrome 1}, | 609322 |
SMARCB1 | 248.9 | 1 | 1 | {Schwannomatosis-1, susceptibility to}, | 162091 |
SMO | 169.5 | 0.97 | 0.92 | Basal cell carcinoma, somatic, | 605462 |
SMO | 169.5 | 0.97 | 0.92 | Curry-Jones syndrome,somatic mosaic, | 601707 |
SMOC2 | 119.4 | 0.97 | 0.92 | Dentin dysplasia, type I, with microdontia and misshapen teeth, | 125400 |
SNAI2 | 151.2 | 1 | 0.99 | Piebaldism, | 172800 |
SNAI2 | 151.2 | 1 | 0.99 | Waardenburg syndrome, type 2D, | 608890 |
SNAP29 | 160.1 | 1 | 1 | Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, | 609528 |
SNRPE | 100.5 | 0.99 | 0.94 | Hypotrichosis 11 | 615059 |
SNX10 | 117.9 | 1 | 0.99 | Osteopetrosis, autosomal recessive 8 | 615085 |
SOS1 | 106.9 | 0.96 | 0.9 | Noonan syndrome 4 | 610733 |
SOS1 | 106.9 | 0.96 | 0.9 | ?Fibromatosis, gingival, 1 | 135300 |
SOX10 | 80.4 | 0.97 | 0.93 | PCWH syndrome, | 609136 |
SOX10 | 80.4 | 0.97 | 0.93 | Waardenburg syndrome, type 2E, with or without neurologic involvement, | 611584 |
SOX10 | 80.4 | 0.97 | 0.93 | Waardenburg syndrome, type 4C, | 613266 |
SOX18 | 27.1 | 0.83 | 0.59 | Hypotrichosis-lymphedema-telangiectasia syndrome, | 607823 |
SOX18 | 27.1 | 0.83 | 0.59 | Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, | 137940 |
SOX2 | 111.4 | 0.99 | 0.97 | Microphthalmia, syndromic 3 | 206900 |
SOX2 | 111.4 | 0.99 | 0.97 | Optic nerve hypoplasia and abnormalities of the central nervous system, | 206900 |
SP7 | 182.3 | 1 | 1 | ?Osteogenesis imperfecta, type XII, | 613849 |
SPINK5 | 170.1 | 0.99 | 0.96 | Atopy, | 147050 |
SPINK5 | 170.1 | 0.99 | 0.96 | Netherton syndrome, | 256500 |
SPINT2 | 68.3 | 0.98 | 0.9 | Diarrhea 3 secretory sodium, congenital, syndromic, | 270420 |
SPRED1 | 187.2 | 0.98 | 0.96 | Legius syndrome, | 611431 |
SPRY4 | 153 | 0.99 | 0.99 | Hypogonadotropic hypogonadism 17 with or without anosmia, | 615266 |
SRD5A3 | 166.9 | 0.99 | 0.99 | Congenital disorder of glycosylation, type Iq, | 612379 |
SRD5A3 | 166.9 | 0.99 | 0.99 | Kahrizi syndrome, | 612713 |
ST14 | 171.8 | 0.99 | 0.98 | Ichthyosis, congenital, autosomal recessive 11 | 602400 |
ST3GAL5 | 138.4 | 0.95 | 0.94 | Amish infantile epilepsy syndrome, | 609056 |
STAMBP | 130.1 | 0.99 | 0.96 | Microcephaly-capillary malformation syndrome, | 614261 |
STAT3 | 141 | 0.99 | 0.98 | Autoimmune disease, multisystem, infantile-onset, | 615952 |
STAT3 | 141 | 0.99 | 0.98 | Hyper-IgE recurrent infection syndrome, | 147060 |
STAT5B | 141.7 | 0.99 | 0.96 | Growth hormone insensitivity with immunodeficiency, | 245590 |
STAT5B | 141.7 | 0.99 | 0.96 | Leukemia, acute promyelocytic, somatic, | 102578 |
STIM1 | 143.1 | 0.99 | 0.96 | Immunodeficiency 10 | 612783 |
STIM1 | 143.1 | 0.99 | 0.96 | Myopathy, tubular aggregate, 1 | 160565 |
STIM1 | 143.1 | 0.99 | 0.96 | Stormorken syndrome, | 185070 |
STK11 | 130.1 | 0.99 | 0.94 | Melanoma, malignant, somatic | 185070 |
STK11 | 130.1 | 0.99 | 0.94 | Pancreatic cancer, | 260350 |
STK11 | 130.1 | 0.99 | 0.94 | Peutz-Jeghers syndrome, | 175200 |
STK11 | 130.1 | 0.99 | 0.94 | Testicular tumor, somatic, | 273300 |
STS | 111.8 | 0.99 | 0.96 | Ichthyosis, X-linked, | 308100 |
SUFU | 149.5 | 0.99 | 0.97 | Basal cell nevus syndrome, | 109400 |
SUFU | 149.5 | 0.99 | 0.97 | Medulloblastoma, desmoplastic, | 155255 |
SUFU | 149.5 | 0.99 | 0.97 | {Meningioma, familial, susceptibility to}, | 607174 |
SUMF1 | 138.4 | 0.97 | 0.92 | Multiple sulfatase deficiency, | 272200 |
TALDO1 | 143.2 | 1 | 0.99 | Transaldolase deficiency, | 606003 |
TAT | 141.9 | 1 | 1 | Tyrosinemia, type II, | 276600 |
TBC1D24 | 178.8 | 1 | 0.99 | Deafness , autosomal recessive 86 | 614617 |
TBC1D24 | 178.8 | 1 | 0.99 | Deafness, autosomal dominant 65 | 616044 |
TBC1D24 | 178.8 | 1 | 0.99 | DOOR syndrome, | 220500 |
TBC1D24 | 178.8 | 1 | 0.99 | Epileptic encephalopathy, early infantile, 16 | 615338 |
TBC1D24 | 178.8 | 1 | 0.99 | Myoclonic epilepsy, infantile, familial, | 605021 |
TBX3 | 97.9 | 0.99 | 0.96 | Ulnar-mammary syndrome, | 181450 |
TCIRG1 | 125.6 | 0.95 | 0.88 | Osteopetrosis, autosomal recessive 1 | 259700 |
TEK | 214.7 | 1 | 0.99 | Venous malformations, multiple cutaneous and mucosal, | 600195 |
TEK | 214.7 | 1 | 0.99 | TERC NC NC NC Dyskeratosis congenita, autosomal dominant 1 | 127550 |
TEK | 214.7 | 1 | 0.99 | {Aplastic anemia}, | 614743 |
TEK | 214.7 | 1 | 0.99 | {Pulmonary fibrosis, idiopathic, susceptibility to}, | 614743 |
TERT | 148.3 | 0.96 | 0.91 | {Dyskeratosis congenita, autosomal dominant 2}, | 613989 |
TERT | 148.3 | 0.96 | 0.91 | {Dyskeratosis congenita, autosomal recessive 4}, | 613989 |
TERT | 148.3 | 0.96 | 0.91 | {Leukemia, acute myeloid}, | 601626 |
TERT | 148.3 | 0.96 | 0.91 | {Melanoma, cutaneous malignant, 9}, | 615134 |
TERT | 148.3 | 0.96 | 0.91 | {Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1}, | 614742 |
TFAP2A | 138 | 1 | 0.99 | Branchiooculofacial syndrome, | 113620 |
TGFB2 | 182.2 | 1 | 0.99 | Loeys-Dietz syndrome 4 | 614816 |
TGFBR1 | 213.8 | 0.95 | 0.93 | Loeys-Dietz syndrome 1 | 609192 |
TGFBR1 | 213.8 | 0.95 | 0.93 | {Multiple self-healing squamous epithelioma, susceptibility to}, | 132800 |
TGFBR2 | 215.3 | 1 | 1 | Colorectal cancer, hereditary nonpolyposis, type 6 | 614331 |
TGFBR2 | 215.3 | 1 | 1 | Esophageal cancer, somatic, | 133239 |
TGFBR2 | 215.3 | 1 | 1 | Loeys-Dietz syndrome 2 | 610168 |
TGM1 | 187.8 | 1 | 1 | Ichthyosis, congenital, autosomal recessive 1 | 242300 |
TGM5 | 187.8 | 1 | 0.99 | Peeling skin syndrome 2 | 609796 |
TINF2 | 196.8 | 1 | 0.99 | Dyskeratosis congenita, autosomal dominant 3 | 613990 |
TINF2 | 196.8 | 1 | 0.99 | Revesz syndrome, | 268130 |
TMC6 | 88 | 0.99 | 0.96 | Epidermodysplasia verruciformis, | 226400 |
TMC8 | 119 | 0.97 | 0.92 | Epidermodysplasia verruciformis, | 226400 |
TMEM165 | 122.2 | 0.98 | 0.96 | Congenital disorder of glycosylation, type IIk, | 614727 |
TMEM173 | 102.7 | 0.99 | 0.96 | STING-associated vasculopathy, infantile-onset, | 615934 |
TNFRSF11A | 144.8 | 0.93 | 0.91 | Osteolysis, familial expansile, | 174810 |
TNFRSF11A | 144.8 | 0.93 | 0.91 | Osteopetrosis, autosomal recessive 7 | 612301 |
TNFRSF11A | 144.8 | 0.93 | 0.91 | {Paget disease of bone 2 early-onset}, | 602080 |
TNFRSF11B | 274.1 | 1 | 1 | Paget disease of bone 5 juvenile-onset, | 239000 |
TNFRSF1A | 104.1 | 0.91 | 0.88 | Periodic fever, familial, | 142680 |
TNFRSF1A | 104.1 | 0.91 | 0.88 | {Multiple sclerosis, susceptibility to, 5}, | 614810 |
TNFSF11 | 184.1 | 0.99 | 0.94 | Osteopetrosis, autosomal recessive 2 | 259710 |
TNXB | 17.8 | 0.59 | 0.32 | Ehlers-Danlos syndrome due to tenascin X deficiency, | 606408 |
TNXB | 17.8 | 0.59 | 0.32 | Vesicoureteral reflux 8 | 615963 |
TP63 | 217.6 | 1 | 1 | ADULT syndrome, | 103285 |
TP63 | 217.6 | 1 | 1 | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 | 604292 |
TP63 | 217.6 | 1 | 1 | Hay-Wells syndrome, | 106260 |
TP63 | 217.6 | 1 | 1 | Limb-mammary syndrome, | 603543 |
TP63 | 217.6 | 1 | 1 | Orofacial cleft 8 | 129400 |
TP63 | 217.6 | 1 | 1 | Rapp-Hodgkin syndrome, | 129400 |
TP63 | 217.6 | 1 | 1 | Split-hand/foot malformation 4 | 605289 |
TPCN2 | 178.6 | 0.99 | 0.97 | [Skin/hair/eye pigmentation 10 blond/brown hair], | 612267 |
TREX1 | 272.2 | 1 | 1 | Aicardi-Goutieres syndrome 1 dominant and recessive, | 225750 |
TREX1 | 272.2 | 1 | 1 | Chilblain lupus, | 610448 |
TREX1 | 272.2 | 1 | 1 | Vasculopathy, retinal, with cerebral leukodystrophy, | 192315 |
TREX1 | 272.2 | 1 | 1 | {Systemic lupus erythematosus, susceptibility to}, | 152700 |
TRIM32 | 152.9 | 1 | 1 | Muscular dystrophy, limb-girdle, type 2H, | 254110 |
TRIM32 | 152.9 | 1 | 1 | ?Bardet-Biedl syndrome 11 | 615988 |
TRIM37 | 131.2 | 0.99 | 0.98 | Mulibrey nanism, | 253250 |
TRPV3 | 184.2 | 1 | 0.99 | Olmsted syndrome, | 614594 |
TRPV3 | 184.2 | 1 | 0.99 | ?Palmoplantar keratoderma, nonepidermolytic, focal 2 | 616400 |
TSC1 | 149.6 | 0.99 | 0.98 | Lymphangioleiomyomatosis, | 606690 |
TSC1 | 149.6 | 0.99 | 0.98 | Tuberous sclerosis-1, | 191100 |
TSC2 | 144.5 | 0.99 | 0.98 | Lymphangioleiomyomatosis, somatic, | 606690 |
TSC2 | 144.5 | 0.99 | 0.98 | Tuberous sclerosis-2, | 613254 |
TSPEAR | 154.4 | 1 | 0.99 | Deafness, autosomal recessive 98 | 614861 |
TSPEAR | 154.4 | 1 | 0.99 | Ectodermal dysplasia (Peled et al, -2016 PLOS Genetics online) | 614861 |
TTC37 | 139 | 0.99 | 0.97 | Trichohepatoenteric syndrome 1 | 222470 |
TTI2 | 114.2 | 0.99 | 0.98 | Mental retardation, autosomal recessive 39 | 615541 |
TWIST2 | 134 | 0.99 | 0.96 | Ablepharon-macrostomia syndrome, | 200110 |
TWIST2 | 134 | 0.99 | 0.96 | Barber-Say syndrome, | 209885 |
TWIST2 | 134 | 0.99 | 0.96 | Focal facial dermal dysplasia 3 Setleis type, | 227260 |
TYR | 205.6 | 1 | 0.99 | Albinism, oculocutaneous, type IA, | 203100 |
TYR | 205.6 | 1 | 0.99 | Albinism, oculocutaneous, type IB, | 606952 |
TYR | 205.6 | 1 | 0.99 | Waardenburg syndrome/albinism, digenic, | 103470 |
TYR | 205.6 | 1 | 0.99 | [Skin/hair/eye pigmentation 3 blue/green eyes], | 601800 |
TYR | 205.6 | 1 | 0.99 | [Skin/hair/eye pigmentation 3 light/dark/freckling skin], | 601800 |
TYR | 205.6 | 1 | 0.99 | {Melanoma, cutaneous malignant, susceptibility to, 8}, | 601800 |
TYRP1 | 209.7 | 1 | 1 | Albinism, oculocutaneous, type III, | 203290 |
TYRP1 | 209.7 | 1 | 1 | [Skin/hair/eye pigmentation, variation in, 11 (Melanesian blond hair)], | 612271 |
UBE2A | 115.3 | 0.99 | 0.95 | Mental retardation, X-linked syndromic, Nascimento-type, | 300860 |
UBR1 | 144.4 | 0.98 | 0.95 | Johanson-Blizzard syndrome, | 243800 |
UROD | 178.2 | 1 | 0.99 | Porphyria cutanea tarda, | 176100 |
UROD | 178.2 | 1 | 0.99 | Porphyria, hepatoerythropoietic, | 176100 |
UROS | 119.9 | 1 | 1 | Porphyria, congenital erythropoietic, | 263700 |
USB1 | 144.5 | 0.99 | 0.97 | Poikiloderma with neutropenia, | 604173 |
UVSSA | 134.4 | 0.99 | 0.99 | UV-sensitive syndrome 3 | 614640 |
VDR | 134.4 | 0.99 | 0.96 | Rickets, vitamin D-resistant, type IIA, | 277440 |
VDR | 134.4 | 0.99 | 0.96 | ?Osteoporosis, involutional, | 166710 |
VEGFC | 181 | 0.99 | 0.99 | Lymphedema, hereditary, ID, | 615907 |
VHL | 120.5 | 0.95 | 0.88 | Erythrocytosis, familial, 2 | 263400 |
VHL | 120.5 | 0.95 | 0.88 | Hemangioblastoma, cerebellar, somatic | 263400 |
VHL | 120.5 | 0.95 | 0.88 | Pheochromocytoma, | 171300 |
VHL | 120.5 | 0.95 | 0.88 | Renal cell carcinoma, somatic, | 144700 |
VHL | 120.5 | 0.95 | 0.88 | von Hippel-Lindau syndrome, | 193300 |
VPS13B | 156.8 | 0.98 | 0.96 | Cohen syndrome, | 216550 |
WAS | 68.7 | 0.87 | 0.78 | Neutropenia, severe congenital, X-linked, | 300299 |
WAS | 68.7 | 0.87 | 0.78 | Thrombocytopenia, X-linked, | 313900 |
WAS | 68.7 | 0.87 | 0.78 | Thrombocytopenia, X-linked, intermittent, | 313900 |
WAS | 68.7 | 0.87 | 0.78 | Wiskott-Aldrich syndrome, | 301000 |
WDR19 | 153.5 | 0.99 | 0.97 | Nephronophthisis 13 | 614377 |
WDR19 | 153.5 | 0.99 | 0.97 | Senior-Loken syndrome 8 | 616307 |
WDR19 | 153.5 | 0.99 | 0.97 | ?Cranioectodermal dysplasia 4 | 614378 |
WDR19 | 153.5 | 0.99 | 0.97 | ?Short-rib thoracic dysplasia 5 with or without polydactyly, | 614376 |
WDR35 | 167.2 | 0.98 | 0.96 | Cranioectodermal dysplasia 2 | 613610 |
WDR35 | 167.2 | 0.98 | 0.96 | Short-rib thoracic dysplasia 7 with or without polydactyly, | 614091 |
WDR72 | 161.7 | 0.99 | 0.97 | Amelogenesis imperfecta, type IIA3, | 613211 |
WIPF1 | 94 | 0.99 | 0.98 | ?Wiskott-Aldrich syndrome 2 | 614493 |
WNT10A | 114.7 | 0.99 | 0.98 | Odontoonychodermal dysplasia, | 257980 |
WNT10A | 114.7 | 0.99 | 0.98 | Schopf-Schulz-Passarge syndrome, | 224750 |
WNT10A | 114.7 | 0.99 | 0.98 | Tooth agenesis, selective, 4 | 150400 |
WNT10B | 142.7 | 1 | 0.99 | Split-hand/foot malformation 6 | 225300 |
WNT5A | 175.2 | 1 | 1 | Robinow syndrome, autosomal dominant 1 | 180700 |
WNT7A | 226.4 | 1 | 1 | Fuhrmann syndrome, | 228930 |
WNT7A | 226.4 | 1 | 1 | Ulna and fibula, absence of, with severe limb deficiency, | 276820 |
WRAP53 | 164.3 | 1 | 1 | Dyskeratosis congenita, autosomal recessive 3 | 613988 |
WRN | 143.3 | 0.97 | 0.93 | Werner syndrome, | 277700 |
XPA | 58.3 | 0.95 | 0.84 | Xeroderma pigmentosum, group A, | 278700 |
XPC | 163.9 | 1 | 0.99 | Xeroderma pigmentosum, group C, | 278720 |
XYLT1 | 148.3 | 0.93 | 0.88 | Desbuquois dysplasia 2 | 615777 |
XYLT1 | 148.3 | 0.93 | 0.88 | {Pseudoxanthoma elasticum, modifier of severity of}, | 264800 |
XYLT2 | 152.3 | 0.98 | 0.95 | Spondyloocular syndrome, | 605822 |
XYLT2 | 152.3 | 0.98 | 0.95 | {Pseudoxanthoma elasticum, modifier of severity of}, | 264800 |
ZBTB20 | 248.6 | 1 | 1 | Primrose syndrome, | 259050 |
ZMPSTE24 | 134.4 | 0.99 | 0.98 | Mandibuloacral dysplasia with type B lipodystrophy, | 608612 |
ZMPSTE24 | 134.4 | 0.99 | 0.98 | Restrictive dermopathy, lethal, | 275210 |
ZNF469 | 91.3 | 0.99 | 0.96 | Brittle cornea syndrome 1 | 229200 |
ZNF592 | 140.6 | 1 | 0.99 | Spinocerebellar ataxia, autosomal recessive 5 | 251300 |
ZNF750 | 161.7 | 1 | 1 | Seborrhea-like dermatitis with psoriasiform elements, | 610227 |
HSD17B10 | 17-beta-hydroxysteroid dehydrogenase X deficiency | 300438 | |||
ACADSB | 2-methylbutyrylglycinuria | 610006 | |||
MCCC1 | 3-Methylcrotonyl-CoA carboxylase 1 deficiency | 210200 | |||
MCCC2 | 3-Methylcrotonyl-CoA carboxylase 2 deficiency | 210210 | |||
FGD1 | Aarskog-Scott syndrome; Mental retardation, X-linked 16 | 305400 | |||
SLC26A2 | Achondrogenesis Ib | 600972 | |||
CNGB3 | Achromatopsia-3 | 262300 | |||
ACADM | Acyl-CoA dehydrogenase, medium chain, deficiency of | 201450 | |||
ACADS | Acyl-CoA dehydrogenase, short-chain, deficiency of | 201470 | |||
CYP17A1 | Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency | 202110 | |||
CYP21A2 | Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency | 201910 | |||
ABCD1 | Adrenoleukodystrophy | 300100 | |||
HGD | Alkaptonuria | 203500 | |||
SLC16A2 | Allan-Herndon-Dudley syndrome | 300523 | |||
ACAT1 | Alpha-methylacetoacetic aciduria | 203750 | |||
ATRX | Alpha-thalassemia/mental retardation syndrome | 301040 | |||
COL4A4 | Alport syndrome, autosomal recessive | 203780 | |||
RMRP | Anauxetic dysplasia | 607095 | |||
AR | Androgen insensitivity | 300068 | |||
ARG1 | Argininemia | 207800 | |||
ASL | Argininosuccinic aciduria | 207900 | |||
PRPS1 | Arts syndrome | 301835 | |||
AGA | Aspartylglucosaminuria | 208400 | |||
TTPA | Ataxia with isolated vitamin E deficiency | 277460 | |||
ATM | Ataxia-telangiectasia | 208900 | |||
OTOF | Auditory neuropathy, autosomal recessive, 1 | 601071 | |||
AIRE | Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia | 240300 | |||
BBS1 | Bardet-Biedl syndrome 1 | 209900 | |||
BBS10 | Bardet-Biedl syndrome 10 | 615987 | |||
CEP290 | Bardet-Biedl syndrome 14; Joubert syndrome 5; Meckel syndrome 4; Senior-Loken syndrome 6 | 615991; 610188; 611134; 610189 | |||
BBS2 | Bardet-Biedl syndrome 2 | 615981 | |||
BSND | Bartter syndrome, type 4a | 602522 | |||
DMD | Duchenne muscular dystrophy; Becker muscular dystrophy | 310200; 300376 | |||
BTD | Biotinidase deficiency | 253260 | |||
BCS1L | Bjornstad syndrome | 262000 | |||
ASPA | Canavan disease | 271900 | |||
CPS1 | Carbamoylphosphate synthetase I deficiency | 237300 | |||
SLC22A5 | Carnitine deficiency, systemic primary | 212140 | |||
SLC25A20 | Carnitine-acylcarnitine translocase deficiency | 212138 | |||
CYP27A1 | Cerebrotendinous xanthomatosis | 213700 | |||
PPT1 | Ceroid lipofuscinosis, neuronal, 1 | 256730 | |||
CTSD | Ceroid lipofuscinosis, neuronal, 10 | 610127 | |||
TPP1 | Ceroid lipofuscinosis, neuronal, 2 | 204500 | |||
CLN3 | Ceroid lipofuscinosis, neuronal, 3 | 204200 | |||
CLN5 | Ceroid lipofuscinosis, neuronal, 5 | 256731 | |||
CLN6 | Ceroid lipofuscinosis, neuronal, 6 | 601780 | |||
MFSD8 | Ceroid lipofuscinosis, neuronal, 7 | 610951 | |||
CLN8 | Ceroid lipofuscinosis, neuronal, 8 | 600143 | |||
MTMR2 | Charcot-Marie-Tooth disease, type 4B1 | 601382 | |||
SH3TC2 | Charcot-Marie-Tooth disease, type 4C | 601596 | |||
NDRG1 | Charcot-Marie-Tooth disease, type 4D | 601455 | |||
GDAP1 | Charcot-Marie-Tooth Neuropathy Type 4A | 214400 | |||
ABCB11 | Cholestasis, benign recurrent intrahepatic, 2 | 601847 | |||
ARSF | Chondrodysplasia punctata, X-linked recessive | 302950 | |||
ARSE | Chondrodysplasia punctata, X-linked recessive | 302950 | |||
ASS1 | Citrullinemia | 215700 | |||
SLC25A13 | Citrullinemia, adult-onset type II; type II, neonatal-onset | 603471; 605814 | |||
RPS6KA3 | Coffin-Lowry syndrome | 303600 | |||
ACSF3 | Combined malonic and methylmalonic acidemia | 614265 | |||
ABCA4 | Cone-rod dystrophy 3 | 604116 | |||
AIPL1 | Cone-rod dystrophy, 604393 (Congenital Leber Amaurosis, 4) | 604393 | |||
RPGR | Cone-rod dystrophy, X-linked, 1 | 304020 | |||
PMM2 | Congenital disorder of glycosylation, type Ia | 212065 | |||
SLC4A11 | Corneal dystrophy, Fuchs endothelial, 4 | 613268 | |||
CPT1A | CPT deficiency, hepatic, type IA | 255120 | |||
CPT2 | CPT II deficiency, lethal neonatal | 608836 | |||
CTH | Cystathioninuria | 219500 | |||
CFTR | Cystic Fibrosis; Congenital bilateral absence of vas deferens | 219700; 277180 | |||
CTNS | Cystinosis, atypical nephropathic | 219800 | |||
SLC3A1 | Cystinuria | 220100 | |||
SLC7A9 | Cystinuria | 220100 | |||
CDH23 | Deafness, autosomal recessive 12 | 601386 | |||
USH1C | Deafness, autosomal recessive 18A | 602092 | |||
GJB2 | Deafness, autosoma recessive 1A; DFNB1A | 220290 | |||
PCDH15 | Deafness, autosomal recessive 23 | 609533 | |||
SLC26A4 | Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | 600791 | |||
GJB3 | Deafness, digenic, GJB2/GJB3 | 220290 | |||
POU3F4 | Deafness, X-linked 2 | 304400 | |||
OCRL | Dent disease 2 | 300555 | |||
DLD | Dihydrolipoamide dehydrogenase deficiency | 246900 | |||
F2 | Dysprothrombinemia | 613679 | |||
COL7A1 | EBD inversa | 226600 | |||
PLOD1 | Ehlers-Danlos syndrome, type VI | 225400 | |||
EVC2 | Ellis-van Creveld syndrome | 225500 | |||
SERPINA1 | Emphysema due to AAT deficiency | 613490 | |||
LAMB3 | Epidermolysis bullosa, junctional, Herlitz type; non-Herlitz type | 226700; 226650 | |||
LAMC2 | Epidermolysis bullosa, junctional, Herlitz type; non-Herlitz type | 226700; 226650 | |||
SYN1 | Epilepsy, X-linked, with variable learning disabilities and behavior disorders | 300491 | |||
ARX | Epileptic encephalopathy, early infantile, 1 | 308350 | |||
ETHE1 | Ethylmalonic encephalopathy | 602473 | |||
GLA | Fabry disease | 301500 | |||
F5 | Factor V deficiency | 227400 | |||
F11 | Factor XI deficiency, autosomal dominant & recessive | 612416 | |||
MEFV | Familial Mediterranean fever, AR | 249100 | |||
FANCA | Fanconi anemia | 227650 | |||
FANCC | Fanconi anemia, complementation group C | 227645 | |||
G6PD | Favism | 134700 | |||
SLC46A1 | Folate malabsorption, hereditary | 229050 | |||
FMR1 | Fragile X syndrome | 300624 | |||
FXN | Friedreich ataxia with retained reflexes | 229300 | |||
ALDOB | Fructose intolerance | 229600 | |||
FH | Fumarase deficiency | 606812 | |||
GALK1 | Galactokinase deficiency with cataracts | 230200 | |||
GALE | Galactose epimerase deficiency | 230350 | |||
GALT | Galactosemia | 230400 | |||
GBA | Gaucher disease, perinatal lethal | 608013 | |||
FTCD | Glutamate formiminotransferase deficiency | 229100 | |||
ETFA | Glutaric acidemia IIA | 231680 | |||
ETFB | Glutaric acidemia IIB | 231680 | |||
ETFDH | Glutaric acidemia IIC | 231680 | |||
GCDH | Glutaricaciduria, type I | 231670 | |||
GLDC | Glycine encephalopathy | 605899 | |||
AMT | Glycine encephalopathy | 605899 | |||
GNMT | Glycine N-methyltransferase deficiency | 606664 | |||
G6PC | Glycogen storage disease Ia | 232200 | |||
SLC37A4 | Glycogen storage disease Ib | 232220 | |||
GAA | Glycogen storage disease II / Pompe Disease | 232300 | |||
AGL | Glycogen storage disease IIIa | 232400 | |||
GBE1 | Glycogen storage disease IV | 232500 | |||
GLB1 | GM1-gangliosidosis, types I, II and III | 230500; 230600; 230650 | |||
NR2E3 | Goldmann-Favre syndrome | 268100 | |||
PANK2 | HARP syndrome | 607236 | |||
SLC6A19 | Hartnup disorder | 234500 | |||
PEX6 | Heimler syndrome, type 2 | 616617 | |||
TFR2 | Hemochromatosis, type 3 | 604250 | |||
HFE2 | Hemochromatosis: Type 2A; HFE2 Related | 602390 | |||
F8 | Hemophilia A | 306700 | |||
F9 | Hemophilia B | 306900 | |||
HAL | Histidinemia | 235800 | |||
HMGCL | HMG-CoA lyase deficiency | 246450 | |||
HLCS | Holocarboxylase synthetase deficiency | 253270 | |||
MTHFR | Homocystinuria due to MTHFR deficiency | 236250 | |||
MTRR | Homocystinuria-megaloblastic anemia, cbl E type | 236270 | |||
CBS | Homocystinuria, B6-responsive and nonresponsive types | 236200 | |||
MMADHC | Homocystinuria, cblD type, variant 1 / Methylmalonic aciduria and homocystinuria, cblD type / Methylmalonic aciduria, cblD type, variant 2 | 277410 | |||
MVK | Hyper-IgD syndrome; Mevalonic aciduria | 260920; 610377 | |||
LDLR | Hypercholesterolemia, familial | 143890 | |||
LDLRAP1 | Hypercholesterolemia, familial, autosomal recessive | 603813 | |||
KCNJ11 | Hyperinsulinemic hypoglycemia, familial, Type 2 | 601820 | |||
ADK | Hypermethioninemia due to adenosine kinase deficiency | 614300 | |||
AHCY | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | 613752 | |||
MAT1A | Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency | 250850 | |||
AGXT | Hyperoxaluria, primary, type 1 | 259900 | |||
GRHPR | Hyperoxaluria, primary, type II | 260000 | |||
HOGA1 | Hyperoxaluria, primary, type III | 613616 | |||
PTS | Hyperphenylalaninemia, BH4-deficient, A | 261640 | |||
QDPR | Hyperphenylalaninemia, BH4-deficient, C | 261630 | |||
PCBD1 | Hyperphenylalaninemia, BH4-deficient, D | 264070 | |||
ALDH4A1 | Hyperprolinemia, type II | 239510 | |||
TSHR | Hyperthyroidism, familial gestational; Hypothyroidism, congenital, nongoitrous, 1 | 603373; 275200 | |||
GNRHR | Hypogonadotropic hypogonadism 7 without anosmia | 146110 | |||
TSHB | Hypothryoidism, congenital, nongoitrous 4 | 275100 | |||
PAX8 | Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia | 218700 | |||
TGM1 | Ichthyosis, congenital, autosomal recessive 1 | 242300 | |||
CD40LG | Immunodeficiency, X-linked, with hyper-IgM | 308230 | |||
IVD | Isovaleric acidemia | 243500 | |||
TMEM216 | Joubert syndrome 2 | 608091 | |||
AHI1 | Joubert syndrome 3 | 608629 | |||
NPHP1 | Joubert syndrome 4 | 609583 | |||
ARL13B | Joubert syndrome 8 | 612291 | |||
GALC | Krabbe disease | 245200 | |||
HADHA | LCHAD deficiency | 609016 | |||
GUCY2D | Leber congenital amaurosis | 204000 | |||
RDH12 | Leber congenital amaurosis 13 | 612712 | |||
RPE65 | Leber congenital amaurosis 2 | 204100 | |||
CRB1 | Leber congenital amaurosis 8 | 613835 | |||
SURF1 | Leigh syndrome, due to COX deficiency | 256000 | |||
LRPPRC | Leigh syndrome, French-Canadian type | 220111 | |||
DYSF | limb-girdle muscular dystrophy type 2B | 253601 | |||
STAR | Lipoid adrenal hyperplasia | 201710 | |||
DCX | Lissencephaly, X-linked | 300067 | |||
CHST6 | Macular corneal dystrophy | 217800 | |||
MLYCD | Malonyl-CoA decarboxylase deficiency | 248360 | |||
MAN2B1 | Mannosidosis, alpha-, types I and II | 248500 | |||
BCKDHA | Maple syrup urine disease, type Ia | 248600 | |||
BCKDHB | Maple syrup urine disease, type Ib | 248600 | |||
DBT | Maple syrup urine disease, type II | 248600 | |||
L1CAM | MASA syndrome / CRASH syndrome | 303350 | |||
PYGM | McArdle disease | 232600 | |||
MKS1 | Meckel syndrome 1 | 249000 | |||
CASK | Mental retardation and microcephaly with pontine and cerebellar hypoplasia | 300749 | |||
PHF8 | Mental retardation syndrome, X-linked, Siderius type | 300263 | |||
OPHN1 | Mental retardation, X-linked | 300486 | |||
IQSEC2 | Mental retardation, X-linked 1/78 | 309530 | |||
THOC2 | Mental retardation, X-linked 12/35 | 300957 | |||
IL1RAPL1 | Mental retardation, X-linked 21/34 | 300143 | |||
PAK3 | Mental retardation, X-linked 30/47 | 300558 | |||
GDI1 | Mental retardation, X-linked 41 | 300849 | |||
TSPAN7 | Mental retardation, X-linked 58 | 300210 | |||
ACSL4 | Mental retardation, X-linked 63 | 300387 | |||
FTSJ1 | Mental retardation, X-linked 9 | 309549 | |||
DLG3 | Mental retardation, X-linked 90 | 300850 | |||
GRIA3 | Mental retardation, X-linked 94 | 300699 | |||
ZNF711 | Mental retardation, X-linked 97 | 300803 | |||
USP9X | Mental retardation, X-linked 99 | 300919 | |||
AP1S2 | Mental retardation, X-linked syndromic 5 | 304340 | |||
ZDHHC9 | Mental retardation, X-linked syndromic, Raymond type | 300799 | |||
HUWE1 | Mental retardation, X-linked syndromic, Turner type | 300706 | |||
NLGN4X | Mental retardation, X-linked, Asperger syndrome susceptibility, X-linked | 300427 | |||
AFF2 | Mental retardation, X-linked, FRAXE type | 309548 | |||
MECP2 | Mental retardation, X-linked, syndromic 13 | 300055 | |||
UPF3B | Mental retardation, X-linked, syndromic 14 | 300676 | |||
CUL4B | Mental retardation, X-linked, syndromic 15 | 300354 | |||
KDM5C | Mental retardation, X-linked, syndromic, Claes-Jensen type | 300534 | |||
ARSA | Metachromatic leukodystrophy | 250100 | |||
MMACHC | Methylmalonic aciduria and homocystinuria, cblC type | 277400 | |||
LMBRD1 | Methylmalonic aciduria and homocystinuria, cblF type | 277380 | |||
ABCD4 | Methylmalonic aciduria and homocystinuria, cblJ type | 614857 | |||
MUT | Methylmalonic aciduria, mut(0) type | 251000 | |||
MMAA | Methylmalonic aciduria, vitamin B12-responsive | 251100 | |||
MMAB | Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type | 251110 | |||
MCEE | Methylmalonyl-CoA epimerase deficiency | 251120 | |||
RAX | Microphthalmia, isolated 3 | 611038 | |||
GNPTAB | Mucolipidosis II and III, alpha/beta | 252500; 252600 | |||
MCOLN1 | Mucolipidosis IV | 252650 | |||
SGSH | Mucopolysaccharidisis type IIIA (Sanfilippo A) | 252900 | |||
IDUA | Mucopolysaccharidosis Ih | 607014 | |||
IDS | Mucopolysaccharidosis II | 309900 | |||
GALNS | Mucopolysaccharidosis IVA | 253000 | |||
NAGLU | Mucopolysaccharidosis type IIIB (Sanfilippo B) | 252920 | |||
HGSNAT | Mucopolysaccharidosis type IIIC (Sanfilippo C) | 252930 | |||
GNS | Mucopolysaccharidosis type IIID | 252940 | |||
ARSB | Mucopolysaccharidosis type VI (Maroteaux-Lamy) | 253200 | |||
POMT1 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | 236670 | |||
POMT2 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 | 613150 | |||
POMGNT1 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 | 253280 | |||
FKRP | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 | 613153 | |||
CAPN3 | Muscular dystrophy, limb-girdle, type 2A | 253600 | |||
SGCA | Muscular dystrophy, limb-girdle, type 2D | 608099 | |||
SGCB | Muscular dystrophy, limb-girdle, type 2E | 604286 | |||
CLCN1 | Myotonia congenita, dominant; recessive | 160800; 255700 | |||
NEB | Nemaline myopathy 2, autosomal recessive | 256030 | |||
NPHS1 | Nephrotic syndrome, type 1 | 256300 | |||
HAX1 | Neutropenia, severe congenital 3, autosomal recessive | 610738 | |||
SMPD1 | Niemann-Pick disease, type A | 257200 | |||
NPC1 | Niemann-Pick disease, type C1 | 257220 | |||
NPC2 | Niemann-pick disease, type C2 | 607625 | |||
NBN | Nijmegen Breakage Syndrome (Ataxia telangectasia, type 1) | 251260 | |||
NDP | Norrie disease | 310600 | |||
GPR143 | Nystagmus 6, congenital, X-linked | 300814 | |||
OTC | Ornithine transcarbamylase deficiency | 311250 | |||
P3H1 | Osteogenesis imperfecta, type VIII | 610915 | |||
PLP1 | Pelizaeus-Merzbacher disease | 312080 | |||
ACOX1 | Peroxisomal acyl-CoA oxidase deficiency | 264470 | |||
PEX1 | Peroxisome biogenesis disorder 1A (Zellweger) | 214100 | |||
PEX10 | Peroxisome biogenesis disorder 6A (Zellweger) | 614870 | |||
PEX7 | Peroxisome biogenesis disorder 9B; Rhizomelic chondroplasia punctata, type I | 614879; 215100 | |||
PAH | Phenylketonuria | 261600 | |||
PGK1 | Phosphoglycerate kinase 1 deficiency | 300653 | |||
PROP1 | Pituitary hormone deficiency, combined, 2 | 262600 | |||
PKHD1 | Polycystic kidney and hepatic disease | 263200 | |||
DNAH5 | Primary ciliary dyskinesia | 608644 | |||
PCCA | Propionic acidemia | 606054 | |||
PCCB | Propionic acidemia | 606054 | |||
PC | Pyruvate carboxylase deficiency | 266150 | |||
PDHB | Pyruvate dehydrogenase E1-beta deficiency | 614111 | |||
PQBP1 | Renpenning syndrome | 309500 | |||
RP2 | Retinitis pigmentosa 2 | 312600 | |||
EYS | Retinitis pigmentosa 25 | 602772 | |||
CERKL | Retinitis pigmentosa 26 | 608380 | |||
USH2A | Retinitis pigmentosa 39 | 613809 | |||
PDE6A | Retinitis pigmentosa 43 | 613810 | |||
CNGB1 | Retinitis pigmentosa 45 | 613767 | |||
IDH3B | Retinitis pigmentosa 46 | 612572 | |||
CNGA1 | Retinitis pigmentosa 49 | 613756 | |||
DHDDS | Retinitis pigmentosa 59 | 613861 | |||
RS1 | Retinoschisis | 312700 | |||
AGPS | Rhizomelic chondrodysplasia punctata, type 3 | 600121 | |||
HEXB | Sandhoff disease, infantile, juvenile, and adult forms | 268800 | |||
JAK3 | SCID, autosomal recessive, T-negative/B-positive type | 600802 | |||
TH | Segawa syndrome, recessive | 605407 | |||
ADA | Severe combined immunodeficiency due to ADA deficiency | 102700 | |||
IL2RG | Severe combined immunodeficiency, X-linked | 300400 | |||
DHCR7 | Smith-Lemli-Opitz syndrome | 270400 | |||
SACS | Spastic ataxia, Charlevoix-Saguenay type | 270550 | |||
SPG11 | Spastic paraplegia 11, autosomal recessive | 604360 | |||
SPG7 | Spastic paraplegia 7, autosomal recessive | 607259 | |||
SMN1 | Spinal muscular atrophy, type I | 253300 | |||
HEXA | Tay-Sachs; GM2-gangliosidosis, several forms | 272800 | |||
HBB | Thalassemia, beta | 613985 | |||
HBA1 | Thalassemias, alpha- | 604131 | |||
HBA2 | Thalassemias, alpha- | 604131 | |||
MPL | Thrombocytopenia, congenital amegakaryocytic | 604498 | |||
DUOX2 | Thryoid dyshormonogenesis 6 | 607200 | |||
SLC5A5 | Thyroid dyshormonogenesis 1 | 274400 | |||
TPO | Thyroid dyshormonogenesis 2A | 274500 | |||
TG | Thyroid dyshormonogenesis 3 | 274700 | |||
IYD | Thyroid dyshormonogenesis 4 | 274800 | |||
DUOXA2 | Thyroid dyshormonogenesis 5 | 274900 | |||
THRB | Thyroid hormone resistance | 274700 | |||
POLR1C | Treacher Collins syndrome 3 | 248390 | |||
HADHB | Trifunctional protein deficiency | 609015 | |||
FAH | Tyrosinemia, type I | 276700 | |||
TAT | Tyrosinemia, type II | 276600 | |||
MYO7A | Usher syndrome, type 1B; Deafness, autosomal dominant 11 | 276900; 601317 | |||
USH1G | Usher syndrome, type 1G | 606943 | |||
WHRN | Usher syndrome, type 2D / Deafness, autosomal recessive 31 | 611383 | |||
CLRN1 | Usher syndrome, type 3A | 276902 | |||
CASQ2 | Ventricular tachycardia, catecholaminergic polymorphic, 2 | 611938 | |||
TRDN | Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness | 615441 | |||
ACADVL | VLCAD deficiency | 201475 | |||
FKTN | Walker-Warburg syndrome, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 | 253800 | |||
ATP7B | Wilson disease | 277900 | |||
LIPA | Wolman disease (lysosomal acid lipase deficiency) | 278000 | |||
BRWD3 | X-linked mental retardation (XLMR) associated with macrocephaly | 300659 | |||
APC | Familial Poliposis of the colon | 175100 | |||
ATM | Breast cancer, susceptibility to | 114480 | |||
BARD1 | Breast cancer, susceptibility to | 114480 | |||
BMPR1A | Juvenile polyposis syndrome, infantile form | 174900 | |||
BRCA1 | Breast-ovarian familial cancer, suspectibility to, 1 | 604370 | |||
BRCA1 | Pancreatic cancer, susceptibility to, 4 | 614320 | |||
BRCA2 | Breast-ovarian familial cancer, suspectibility to, 2 | 612555 | |||
BRIP1 | Breast cancer, early-onset | 114480 | |||
CDH1 | Gastric cancer, familial diffuse, with or without cleft lip and/or palate | 137215 | |||
CDH1 | Breast cancer, lobular, susceptibility to | 114480 | |||
CDH1 | Prostate cancer, susceptibility to | 176807 | |||
CDK4 | {Melanoma, cutaneous malignant, 3} | 609048 | |||
CDKN2A | Melanoma and neural system tumor syndrome | 155755 | |||
CDKN2A | Pancreatic cancer/melanoma syndrome | 606719 | |||
CDKN2A | Melanoma, cutaneous malignant, 2, susceptibility to | 155601 | |||
CHEK2 | Li-Fraumeni syndrome | 609265 | |||
CHEK2 | {Breast cancer, susceptibility to} | 114480 | |||
CHEK2 | {Prostate cancer, familial, susceptibility to} | 176807 | |||
CHEK2 | {Breast and colorrectal cancer, susceptibility to} | ||||
EPCAM | Colorectal cancer, hereditary nonpolyposis, type 8 | 613244 | |||
FH | Leiomyomatosis and renal cell cancer | 150800 | |||
FLCN | Colorectal cancer, somatic | 114500 | |||
FLCN | Renal carcinoma, chromophobe, somatic | 144700 | |||
MAX | {Pheochromocytoma, susceptibility to} | 171300 | |||
MEN1 | Multiple endocrine neoplasia 1 | 131100 | |||
MET | Renal cell carcinoma, papillary, 1, familial and somatic | 605074 | |||
MITF | {Melanoma, cutaneous malignant, susceptibility to, 8} | 614456 | |||
MLH1 | Colorectal cancer, hereditary nonpolyposis, type 2 | 609310 | |||
MRE11A | Ataxia-telangiectasia-like disorder | 604391 | |||
MSH2 | Colorectal cancer, hereditary nonpolyposis, type 1; Lynch syndrome, 2 | 120435 | |||
MSH6 | Colorectal cancer, hereditary nonpolyposis, type 5 | 614350 | |||
MSH6 | Endometrial cancer, familial | 608089 | |||
MUTYH | Adenomas, multiple colorectal | 608456 | |||
NBN | Nijmegen breakage syndrome | 251260 | |||
NF1 | Neurofibromatosis, type 1 | 162200 | |||
PALB2 | Breast cancer, susceptibility to} | 114480 | |||
PALB2 | Pancreatic cancer, susceptibility to, 3 | 613348 | |||
PMS2 | Colorectal cancer, hereditary nonpolyposis, type 4 | 614337 | |||
POLD1 | Colorectal cancer, susceptibility to, 10 | 612591 | |||
POLE | Colorectal cancer, susceptibility to, 12 | 615083 | |||
PTEN | Glioma susceptibility 2 | 613028 | |||
PTEN | Meningioma | 607174 | |||
RAD50 | Nijmegen breakage syndrome-like disorder | 613078 | |||
RAD51C | Breast-ovarian cancer, familial, susceptibility to, 3 | 613399 | |||
RAD51D | Breast-ovarian cancer, familial, susceptibility to, 4 | 614291 | |||
RET | Medullary thyroid carcinoma | 155240 | |||
RET | Multiple endocrine neoplasia IIA | 171400 | |||
RET | Multiple endocrine neoplasia IIB | 162300 | |||
RET | Pheochromocytoma | 171300 | |||
SDHAF2 | Paragangliomas 2 | 601650 | |||
SDHB | Cowden syndrome 2 | 612359 | |||
SDHB | Pheochromocytoma | 171300 | |||
SDHB | Paragangliomas 4 | 115310 | |||
SDHC | Paragangliomas 3 | 605373 | |||
SDHD | Carcinoid tumors, intestinal | 114900 | |||
SDHD | Paragangliomas 1, with or without deafness | 168000 | |||
SDHD | Pheochromocytoma | 171300 | |||
SDHD | Cowden syndrome 3 | 615106 | |||
SMAD4 | Polyposis, juvenile intestinal | 174900 | |||
SMAD4 | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | 175050 | |||
STK11 | Peutz-Jeghers syndrome | 175200 | |||
STK11 | Pancreatic cancer | 260350 | |||
TMEM127 | Pheochromocytoma, susceptibility to | 171300 | |||
TP53 | Breast cancer | 114480 | |||
TP53 | Colorectal cancer | 114500 | |||
TP53 | Li-Fraumeni syndrome | 151623 | |||
TP53 | Pancreatic cancer | 260350 | |||
TP53 | Basal cell carcinoma, 7 | 614740 | |||
TP53 | Glioma susceptibility 1 | 137800 | |||
TSC1 | Tuberous sclerosis, type 1 | 191100 | |||
TSC2 | Tuberous scleroris, type 2 | 613254 | |||
VHL | Pheochromocytoma | 171300 | |||
VHL | Renal cell carcinoma | 144700 | |||
VHL | von Hippel-Lindau syndrome | 193300 | |||
APC | Familial Poliposis of the colon | 175100 | |||
ATM | Breast cancer, susceptibility to | 114480 | |||
BARD1 | Breast cancer, susceptibility to | 114480 | |||
BMPR1A | Juvenile polyposis syndrome, infantile form | ||||
BRCA1 | Breast-ovarian familial cancer, suspectibility to, 1 | 604370 | |||
BRCA1 | Pancreatic cancer, susceptibility to, 4 | 614320 | |||
BRCA2 | Breast-ovarian familial cancer, suspectibility to, 2 | 612555 | |||
BRIP1 | Breast cancer, early-onset | 114480 | |||
CDH1 | Breast cancer, lobular, susceptibility to | 114480 | |||
CDK4 | {Melanoma, cutaneous malignant, 3} | 609048 | |||
CDKN2A | Melanoma and neural system tumor syndrome | 155755 | |||
CDKN2A | Pancreatic cancer/melanoma syndrome | 606719 | |||
CDKN2A | Melanoma, cutaneous malignant, 2, susceptibility to | 155601 | |||
CHEK2 | Li-Fraumeni syndrome | 609265 | |||
CHEK2 | {Breast cancer, susceptibility to} | 114480 | |||
CHEK2 | {Prostate cancer, familial, susceptibility to} | 176807 | |||
CHEK2 | {Breast and colorrectal cancer, susceptibility to} | ||||
EPCAM | Colorectal cancer, hereditary nonpolyposis, type 8 | 613244 | |||
MLH1 | Colorectal cancer, hereditary nonpolyposis, type 2 | 609310 | |||
MRE11A | Ataxia-telangiectasia-like disorder | 604391 | |||
MSH2 | Colorectal cancer, hereditary nonpolyposis, type 1; Lynch syndrome, 2 | 120435 | |||
MSH6 | Colorectal cancer, hereditary nonpolyposis, type 5 | 614350 | |||
MSH6 | Endometrial cancer, familial | 608089 | |||
MUTYH | Adenomas, multiple colorectal | 608456 | |||
NBN | Nijmegen breakage syndrome | 251260 | |||
NF1 | Neurofibromatosis, type 1 | 162200 | |||
PALB2 | Breast cancer, susceptibility to} | 114480 | |||
PALB2 | Pancreatic cancer, susceptibility to, 3 | 613348 | |||
PMS2 | Colorectal cancer, hereditary nonpolyposis, type 4 | 614337 | |||
POLD1 | Colorectal cancer, susceptibility to, 10 | 612591 | |||
POLE | Colorectal cancer, susceptibility to, 12 | 615083 | |||
PTEN | |||||
RAD50 | Nijmegen breakage syndrome-like disorder | 613078 | |||
RAD51C | Breast-ovarian cancer, familial, susceptibility to, 3 | 613399 | |||
RAD51D | Breast-ovarian cancer, familial, susceptibility to, 4 | 614291 | |||
SMAD4 | Polyposis, juvenile intestinal | 174900 | |||
STK11 | Peutz-Jeghers syndrome | 175200 | |||
TP53 | Li-Fraumeni syndrome | 151623 | |||
TP53 | Colorectal cancer | 114500 | |||
TP53 | Li-Fraumeni syndrome | 151623 | |||
TP53 | Pancreatic cancer | 260350 | |||
TP53 | Basal cell carcinoma, 7 | 614740 | |||
TP53 | Glioma susceptibility 1 | 137800 | |||
ATM | Breast cancer, susceptibility to | 114480 | |||
BRCA1 | Breast-ovarian familial cancer, suspectibility to, 1 | 604370 | |||
BRCA2 | Breast-ovarian familial cancer, suspectibility to, 2 | 612555 | |||
CDH1 | Breast cancer, lobular, susceptibility to | 114480 | |||
PALB2 | Breast cancer, susceptibility to} | 114480 | |||
PTEN | |||||
STK11 | Peutz-Jeghers syndrome | 175200 | |||
TP53 | Li-Fraumeni syndrome | 151623 | |||
BARD1 | Breast cancer, susceptibility to | 114480 | |||
BRCA1 | Breast-ovarian familial cancer, suspectibility to, 1 | 604370 | |||
BRCA2 | Breast-ovarian familial cancer, suspectibility to, 2 | 612555 | |||
BRIP1 | Breast cancer, early-onset | 114480 | |||
CDH1 | Breast cancer, lobular, susceptibility to | 114480 | |||
CHEK2 | {Breast cancer, susceptibility to} | 114480 | |||
CHEK2 | {Breast and colorrectal cancer, susceptibility to} | ||||
EPCAM | Breast-ovarian familial cancer, suspectibility to, | 167000 | |||
MLH1 | Ovarian cancer | 167000 | |||
MRE11A | Ataxia-telangiectasia-like disorder | 604391 | |||
MSH2 | Endometrial cancer; Lynch syndrome | 608089 | |||
MSH6 | Endometrial cancer, familial | 608089 | |||
NBN | Nijmegen breakage syndrome | 251260 | |||
NF1 | Neurofibromatosis, type 1 | 162200 | |||
PALB2 | Breast cancer, susceptibility to} | 114480 | |||
PMS2 | Lynch Syndrome | 120435 | |||
PTEN | |||||
RAD50 | Nijmegen breakage syndrome-like disorder | 613078 | |||
RAD51C | Breast-ovarian cancer, familial, susceptibility to, 3 | 613399 | |||
RAD51D | Breast-ovarian cancer, familial, susceptibility to, 4 | 614291 | |||
STK11 | Peutz-Jeghers syndrome | 175200 | |||
TP53 | Li-Fraumeni syndrome | 151623 | |||
BMPR1A | Juvenile polyposis syndrome, infantile form | ||||
CDH1 | Gastric cancer, familial diffuse, with or without cleft lip and/or palate | 137215 | |||
CHEK2 | {Breast and colorrectal cancer, susceptibility to} | ||||
EPCAM | Colorectal cancer, hereditary nonpolyposis, type 8 | 613244 | |||
GREM1 | Polyposis syndrome, hereditary mixed, 1 | 601228 | |||
MLH1 | Colorectal cancer, hereditary nonpolyposis, type 2 | 609310 | |||
MSH2 | Colorectal cancer, hereditary nonpolyposis, type 1; Lynch syndrome, 2 | 120435 | |||
MSH6 | Colorectal cancer, hereditary nonpolyposis, type 5 | 614350 | |||
MUTYH | Adenomas, multiple colorectal | 608456 | |||
PMS2 | Colorectal cancer, hereditary nonpolyposis, type 4 | 614337 | |||
POLD1 | Colorectal cancer, susceptibility to, 10 | 612591 | |||
POLE | Colorectal cancer, susceptibility to, 12 | 615083 | |||
PTEN | |||||
SMAD4 | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | 175050 | |||
STK11 | Peutz-Jeghers syndrome | 175200 | |||
TP53 | Li-Fraumeni syndrome | 151623 | |||
PAH | Phenylketonuria | 261600 | |||
HGD | Alkaptonuria | 203500 | |||
ARG1 | Arginase deficiency | 207800 | |||
ASL | Argininosuccinate Lyase Deficiency | 207900 | |||
ASS1 | Citrullinemia | 215700 | |||
CTH | Cystathioninuria | 219500 | |||
SLC3A1 | Cystinuria | 220100 | |||
SLC7A9 | Cystinuria | 220100 | |||
HAL | Histidinemia | 235800 | |||
CBS | Homocystinuria B6-responsive and nonresponsive types | 236200 | |||
AHCY | Hypermethioninemia | 613752 | |||
GNMT | Hypermethioninemia | 606664 | |||
MAT1A | Hypermethioninemia | 250850 | |||
ALDH4A1 | Hyperprolinemia | 239510 | |||
PRODH | Hyperprolinemia | 239500 | |||
BCKDHA | Maple syrup urine disease type Ia | 248600 | |||
BCKDHB | Maple syrup urine disease type Ib | 248600 | |||
DBT | Maple syrup urine disease type II | 248600 | |||
DLD | Maple syrup urine disease type III | 248600 | |||
FAH | Tyrosinemia type I | 276700 | |||
BTD | Biotinidase deficiency | 253260 | |||
CFTR | Cystic Fibrosis | 219700 | |||
GJB2 | Deafness Autosomal Dominant 3A | 601544 | |||
SLC26A4 | Pendred syndrome | 274600 | |||
ACADM | Acyl-CoA dehydrogenase, medium chain deficiency of | 201450 | |||
ETFA | Glutaric acidemia IIA | 231680 | |||
ETFB | Glutaric acidemia IIB | 231680 | |||
ETFDH | Glutaric acidemia IIC | 231680 | |||
HADHA | LCHAD deficiency | 609016 | |||
CYP21A2 | Adrenal hyperplasia due to 21-hydroxylase deficiency | 201910 | |||
SLC22A5 | Carnitine deficiency, systemic primary | 212140 | |||
CPT1A | CPT I deficiency, hepatic | 255120 |