qGenEx EP. Panel Enfermedades de la Piel

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:
GeneMedian coverage% covered > 10x% covered > 20xAssociated Phenotype description and OMIM disease ID 
AAAS10810.99Achalasia-addisonianism-alacrimia syndrome,231550
AAGAB166.90.990.97Keratoderma, palmoplantar, punctate type IA,148600
ABCA121630.990.97Ichthyosis, autosomal recessive 4B (harlequin),242500
ABCA121630.990.97Ichthyosis, congenital, autosomal recessive 4A,601277
ABCB6136.30.990.99Dyschromatosis universalis hereditaria 3615402
ABCB6136.30.990.99Microphthalmia, isolated, with coloboma 7614497
ABCB6136.30.990.99Pseudohyperkalemia, familial, 2 due to red cell leak,609153
ABCB6136.30.990.99[Blood group, Langereis system],111600
ABCC6113.80.930.92Arterial calcification, generalized, of infancy, 2614473
ABCC6113.80.930.92Pseudoxanthoma elasticum,264800
ABCC6113.80.930.92Pseudoxanthoma elasticum, forme fruste,177850
ABCC9177.110.99Atrial fibrillation, familial, 12614050
ABCC9177.110.99Cardiomyopathy, dilated, 1O,608569
ABCC9177.110.99Hypertrichotic osteochondrodysplasia,239850
ABHD5265.70.990.99Chanarin-Dorfman syndrome,275630
ACTA2166.510.99Aortic aneurysm, familial thoracic 6611788
ACTA2166.510.99Moyamoya disease 5614042
ACTA2166.510.99Multisystemic smooth muscle dysfunction syndrome,613834
ACTB134.10.980.93Baraitser-Winter syndrome 1243310
ACTB134.10.980.93?Dystonia, juvenile-onset,607371
ACVRL11380.990.98Telangiectasia, hereditary hemorrhagic, type 2600376
ADAM10154.10.990.97Reticulate acropigmentation of Kitamura,615537
ADAM10154.10.990.97{Alzheimer disease 18 susceptibility to},615590
ADAM17140.90.970.93?Inflammatory skin and bowel disease, neonatal, 1614328
ADAMTS10118.70.990.99Weill-Marchesani syndrome 1 recessive,277600
ADAMTS17134.90.90.87Weill-Marchesani-like syndrome,613195
ADAMTS2136.30.990.98Ehlers-Danlos syndrome, type VIIC,225410
ADAR131.710.99Aicardi-Goutieres syndrome 6615010
ADAR131.710.99Dyschromatosis symmetrica hereditaria,127400
AGA154.111Aspartylglucosaminuria,208400
AGPAT2120.10.980.92Lipodystrophy, congenital generalized, type 1608594
AIRE83.30.990.93Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia,608594
AIRE83.30.990.93Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia,240300
AKT1182.310.99Breast cancer, somatic,114480
AKT1182.310.99Colorectal cancer, somatic,114500
AKT1182.310.99Cowden syndrome 6615109
AKT1182.310.99Ovarian cancer, somatic,167000
AKT1182.310.99Proteus syndrome, somatic,176920
AKT1182.310.99{Schizophrenia, susceptibility to},181500
AKT383.70.970.89Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2615937
ALAD11510.99Porphyria, acute hepatic,612740
ALAD11510.99{Lead poisoning, susceptibility to},612740
ALAS2107.40.990.96Anemia, sideroblastic, 1300751
ALAS2107.40.990.96Protoporphyria, erythropoietic, X-linked,300752
ALDH18A114310.99Cutis laxa, autosomal dominant 3616603
ALDH18A114310.99Cutis laxa, autosomal recessive, type IIIA,219150
ALDH18A114310.99Spastic paraplegia 9A, autosomal dominant,601162
ALDH18A114310.99Spastic paraplegia 9B, autosomal recessive,616586
ALDH3A2157.410.99Sjogren-Larsson syndrome,270200
ALDOB174.30.990.98Fructose intolerance,229600
ALOX12B148.40.990.99Ichthyosis, congenital, autosomal recessive 2242100
ALOXE3145.810.99Ichthyosis, congenital, autosomal recessive 3606545
ALPL163.111Hypophosphatasia, adult,146300
ALPL163.111Hypophosphatasia, childhood,241510
ALPL163.111Hypophosphatasia, infantile,241500
ALPL163.111Odontohypophosphatasia,146300
ALX4132.60.960.89Frontonasal dysplasia 2613451
ALX4132.60.960.89Parietal foramina 2609597
ALX4132.60.960.89{Craniosynostosis 5 susceptibility to},615529
AMELX95.20.990.96Amelogenesis imperfecta, type 1E,301200
ANKRD11107.90.970.93KBG syndrome,148050
ANTXR1141.90.980.96GAPO syndrome,230740
ANTXR1141.90.980.96{Hemangioma, capillary infantile, susceptibility to},602089
ANTXR297.90.970.91Hyaline fibromatosis syndrome,228600
AP1S31200.90.9{Psoriasis 15 pustular, susceptibility to},616106
AP3B1111.50.970.91Hermansky-Pudlak syndrome 2608233
APC175.40.990.98Adenoma, periampullary, somatic608233
APC175.40.990.98Adenomatous polyposis coli,175100
APC175.40.990.98Brain tumor-polyposis syndrome 2175100
APC175.40.990.98Colorectal cancer, somatic,114500
APC175.40.990.98Desmoid disease, hereditary,135290
APC175.40.990.98Gardner syndrome,175100
APC175.40.990.98Gastric cancer, somatic,613659
APC175.40.990.98Hepatoblastoma, somatic,114550
APCDD1183.50.990.97Hypotrichosis 1605389
AQP5116.50.990.96Palmoplantar keratoderma, Bothnian type,600231
ARHGAP31128.30.990.98Adams-Oliver syndrome 1100300
ARID1A155.10.950.9Coffin-Siris syndrome 2614607
ARID1B1570.950.9Coffin-Siris syndrome 1135900
ASIP114.210.99[Skin/hair/eye pigmentation 9 brown/nonbrown eyes],611742
ASIP114.210.99[Skin/hair/eye pigmentation 9 dark/light hair],611742
ASL118.40.990.98Argininosuccinic aciduria,207900
ASXL1168.40.990.98Bohring-Opitz syndrome,605039
ASXL1168.40.990.98Myelodysplastic syndrome, somatic,614286
ASXL3178.50.990.99Bainbridge-Ropers syndrome,615485
ATIC134.70.990.98AICA-ribosiduria due to ATIC deficiency,608688
ATP2A2197.210.99Acrokeratosis verruciformis,101900
ATP2A2197.210.99Darier disease,124200
ATP2C1135.50.990.98Hailey-Hailey disease,169600
ATP6V0A2159.810.99Cutis laxa, autosomal recessive, type IIA,219200
ATP6V0A2159.810.99Wrinkly skin syndrome,278250
ATP7A157.30.990.97Menkes disease,309400
ATP7A157.30.990.97Occipital horn syndrome,304150
ATP7A157.30.990.97Spinal muscular atrophy, distal, X-linked 3300489
ATR160.30.980.96Seckel syndrome 1210600
ATR160.30.980.96?Cutaneous telangiectasia and cancer syndrome, familial,614564
AXIN2133.310.99Colorectal cancer, somatic,114500
AXIN2133.310.99Oligodontia-colorectal cancer syndrome,608615
B3GALT6540.760.71Ehlers-Danlos syndrome, progeroid type, 2615349
B3GALT6540.760.71Spondyloepimetaphyseal dysplasia with joint laxity, type 1 with or without fractures,271640
B4GALT7116.30.960.95Ehlers-Danlos syndrome with short stature and limb anomalies,130070
BANF172.40.990.96Nestor-Guillermo progeria syndrome,614008
BAP1154.20.990.98Tumor predisposition syndrome,614327
BCOR131.40.990.97Microphthalmia, syndromic 2300166
BCS1L184.411Bjornstad syndrome,262000
BCS1L184.411GRACILE syndrome,603358
BCS1L184.411Leigh syndrome,256000
BCS1L184.411Mitochondrial complex III deficiency, nuclear type 1124000
BLM139.60.980.95Bloom syndrome,210900
BLOC1S351.70.970.9Hermansky-Pudlak syndrome 8614077
BLOC1S6106.60.980.92Hermansky-pudlak syndrome 9614171
BMS194.20.660.64?Aplasia cutis congenita, nonsyndromic,107600
BRAF770.890.79Adenocarcinoma of lung, somatic,211980
BRAF770.890.79Cardiofaciocutaneous syndrome,115150
BRAF770.890.79Colorectal cancer, somatic115150
BRAF770.890.79LEOPARD syndrome 3613707
BRAF770.890.79Melanoma, malignant, somatic613707
BRAF770.890.79Nonsmall cell lung cancer, somatic613707
BRAF770.890.79Noonan syndrome 7613706
BRIP1137.10.990.96Breast cancer, early-onset,114480
BRIP1137.10.990.96Fanconi anemia, complementation group J,609054
BSCL2126.410.99Encephalopathy, progressive, with or without lipodystrophy,615924
BSCL2126.410.99Lipodystrophy, congenital generalized, type 2269700
BSCL2126.410.99Neuropathy, distal hereditary motor, type VA,600794
BSCL2126.410.99Silver spastic paraplegia syndrome,270685
BTD163.810.99Biotinidase deficiency,253260
C10orf11167.40.990.99Albinism, oculocutaneous, type VII,615179
C1QA130.20.980.95C1q deficiency,613652
C1QB1950.990.99C1q deficiency,613652
C1QC232.310.99C1q deficiency,613652
C2CD3163.20.950.95?Orofaciodigital syndrome XIV,615948
C4orf26226.311Amelogenesis imperfecta, type IIA4,614832
CA2166.30.980.93Osteopetrosis, autosomal recessive 3 with renal tubular acidosis,259730
CAPN1292.70.960.91No OMIM phenotype259730
CAPN1292.70.960.91Modifying factor in ichthyosis259730
CARD14120.70.990.98Pityriasis rubra pilaris,173200
CARD14120.70.990.98Psoriasis 2602723
CARD9126.30.970.96Candidiasis, familial, 2 autosomal recessive,212050
CAST124.50.970.93Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads,616295
CAV1269.111Pulmonary hypertension, primary, 3615343
CAV1269.111?Lipodystrophy, congenital generalized, type 3612526
CAV1269.111?Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome,606721
CBL145.20.990.98Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia,613563
CBL145.20.990.98?Juvenile myelomonocytic leukemia,607785
CBS127.10.970.92Homocystinuria, B6-responsive and nonresponsive types,236200
CBS127.10.970.92Thrombosis, hyperhomocysteinemic,236200
CCBE181.90.980.92Hennekam lymphangiectasia-lymphedema syndrome 1235510
CD151150.211Nephropathy with pretibial epidermolysis bullosa and deafness,609057
CD151150.211[Blood group, Raph],179620
CDAN1113.10.980.96Dyserythropoietic anemia, congenital, type Ia,224120
CDH3155.90.990.97Ectodermal dysplasia, ectrodactyly, and macular dystrophy,225280
CDH3155.90.990.97Hypotrichosis, congenital, with juvenile macular dystrophy,601553
CDK413710.99{Melanoma, cutaneous malignant, 3},609048
CDKN2A77.70.920.9Melanoma and neural system tumor syndrome,155755
CDKN2A77.70.920.9Orolaryngeal cancer, multiple,155755
CDKN2A77.70.920.9Pancreatic cancer/melanoma syndrome,606719
CDKN2A77.70.920.9{Melanoma, cutaneous malignant, 2},155601
CDSN25.50.630.46Hypotrichosis 2146520
CDSN25.50.630.46Peeling skin syndrome 1270300
CECR1111.60.990.98Polyarteritis nodosa, childhood-onset,615688
CECR1111.60.990.98?Sneddon syndrome,182410
CERS3139.710.99Ichthyosis, congenital, autosomal recessive 9615023
CHKB101.20.990.96Muscular dystrophy, congenital, megaconial type,602541
CHST14190.50.960.94Ehlers-Danlos syndrome, musculocontractural type 1601776
CHSY1148.30.960.94Temtamy preaxial brachydactyly syndrome,605282
CHUK144.90.990.96Cocoon syndrome,613630
CKAP2L195.20.980.95Filippi syndrome,272440
CLDN1156.711Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis,607626
CNNM4211.20.980.98Jalili syndrome,217080
COL17A1123.30.980.95Epidermolysis bullosa, junctional, localisata variant,226650
COL17A1123.30.980.95Epidermolysis bullosa, junctional, non-Herlitz type,226650
COL17A1123.30.980.95Epithelial recurrent erosion dystrophy,122400
COL1A2111.60.960.93Ehlers-Danlos syndrome, cardiac valvular form,225320
COL1A2111.60.960.93Ehlers-Danlos syndrome, type VIIB,130060
COL1A2111.60.960.93Osteogenesis imperfecta, type II,166210
COL1A2111.60.960.93Osteogenesis imperfecta, type III,259420
COL1A2111.60.960.93Osteogenesis imperfecta, type IV,166220
COL1A2111.60.960.93{Osteoporosis, postmenopausal},166710
COL3A1115.80.950.88Ehlers-Danlos syndrome, type IV,130050
COL5A1125.60.970.95Ehlers-Danlos syndrome, classic type,130000
COL5A293.40.990.96Ehlers-Danlos syndrome, classic type,130000
COL7A1139.70.990.97EBD inversa,226600
COL7A1139.70.990.97EBD, Bart type,132000
COL7A1139.70.990.97EBD, localisata variant132000
COL7A1139.70.990.97Epidermolysis bullosa dystrophica, AD,131750
COL7A1139.70.990.97Epidermolysis bullosa dystrophica, AR,226600
COL7A1139.70.990.97Epidermolysis bullosa pruriginosa,604129
COL7A1139.70.990.97Epidermolysis bullosa, pretibial,131850
COL7A1139.70.990.97Toenail dystrophy, isolated,607523
COL7A1139.70.990.97Transient bullous of the newborn,131705
COX4I210711Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis,612714
COX7B60.70.760.49Linear skin defects with multiple congenital anomalies,300887
CPOX124.80.910.85Coproporphyria,121300
CPOX124.80.910.85Harderoporphyria,121300
CSTA119.410.98Peeling skin syndrome 4607936
CTC1118.90.990.99Cerebroretinal microangiopathy with calcifications and cysts,612199
CTSA149.80.990.99Galactosialidosis,256540
CTSC148.611Haim-Munk syndrome,245010
CTSC148.611Papillon-Lefevre syndrome,245000
CTSC148.611Periodontitis 1 juvenile,170650
CXCR4210.410.99Myelokathexis, isolated170650
CXCR4210.410.99WHIM syndrome,193670
CYLD135.10.970.93Brooke-Spiegler syndrome,605041
CYLD135.10.970.93Cylindromatosis, familial,132700
CYLD135.10.970.93Trichoepithelioma, multiple familial, 1601606
CYP26C189.40.990.97Focal facial dermal dysplasia 4614974
CYP4F22137.90.990.99Ichthyosis, congenital, autosomal recessive 5604777
DCAF17110.10.980.92Woodhouse-Sakati syndrome,241080
DCLRE1C144.20.970.94Omenn syndrome,603554
DCLRE1C144.20.970.94Severe combined immunodeficiency, Athabascan type,602450
DDB2173.810.99Xeroderma pigmentosum, group E, DDB-negative subtype,278740
DHCR7176.811Smith-Lemli-Opitz syndrome,270400
DKC1138.10.990.98Dyskeratosis congenita, X-linked,305000
DLX3137.410.99Amelogenesis imperfecta, type IV,104510
DLX3137.410.99Trichodontoosseous syndrome,190320
DLX5158.610.97?Split-hand/foot malformation 1 with sensorineural hearing loss,220600
DOCK6133.60.990.97Adams-Oliver syndrome 2614219
DOCK8151.810.99Hyper-IgE recurrent infection syndrome, autosomal recessive,243700
DOLK201.80.990.99Congenital disorder of glycosylation, type Im,610768
DSC2154.40.980.94Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair,610768
DSC2154.40.980.94Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair,610476
DSC2154.40.980.94Arrhythmogenic right ventricular dysplasia 11610476
DSC3105.70.960.87?Hypotrichosis and recurrent skin vesicles,613102
DSE117.90.990.98?Ehlers-Danlos syndrome, musculocontractural type 2615539
DSG1195.30.980.96Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE,615508
DSG1195.30.980.96Keratosis palmoplantaris striata I, AD,148700
DSG3159.40.990.97No OMIM phenotype148700
DSG42410.980.96Hypotrichosis 6607903
DSP161.90.990.99Arrhythmogenic right ventricular dysplasia 8607450
DSP161.90.990.99Cardiomyopathy, dilated, with woolly hair and keratoderma,605676
DSP161.90.990.99Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis,615821
DSP161.90.990.99Epidermolysis bullosa, lethal acantholytic,609638
DSP161.90.990.99Keratosis palmoplantaris striata II,612908
DSP161.90.990.99Skin fragility-woolly hair syndrome,607655
DSPP19110.99Deafness, autosomal dominant 39 with dentinogenesis,605594
DSPP19110.99Dentin dysplasia, type II,125420
DSPP19110.99Dentinogenesis imperfecta, Shields type II,125490
DSPP19110.99Dentinogenesis imperfecta, Shields type III,125500
DTNBP1119.90.990.96Hermansky-Pudlak syndrome 7614076
DUSP6173.310.99Hypogonadotropic hypogonadism 19 with or without anosmia,615269
EBP101.30.990.96Chondrodysplasia punctata, X-linked dominant,302960
EBP101.30.990.96MEND syndrome,300960
ECM1178.810.99Urbach-Wiethe disease,247100
EDA1010.90.79Ectodermal dysplasia 1 hypohidrotic, X-linked,305100
EDA1010.90.79Tooth agenesis, selective, X-linked 1313500
EDAR145.90.990.98Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant,129490
EDAR145.90.990.98Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive,224900
EDAR145.90.990.98[Hair morphology 1 hair thickness],612630
EDARADD98.60.970.92Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant,614940
EDARADD98.60.970.92Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive,614941
EDN3138.210.98Central hypoventilation syndrome, congenital,209880
EDN3138.210.98Waardenburg syndrome, type 4B,613265
EDN3138.210.98{Hirschsprung disease, susceptibility to, 4},613712
EDNRA226.90.990.99Mandibulofacial dysostosis with alopecia,616367
EDNRA226.90.990.99{Migraine, resistance to},157300
EDNRB143.90.950.91ABCD syndrome,600501
EDNRB143.90.950.91Waardenburg syndrome, type 4A,277580
EDNRB143.90.950.91{Hirschsprung disease, susceptibility to, 2},600155
EFEMP2139.911Cutis laxa, autosomal recessive, type IB,614437
EFNB1142.410.99Craniofrontonasal dysplasia,304110
EIF2AK3169.70.960.91Wolcott-Rallison syndrome,226980
ELN111.90.990.98Cutis laxa, AD,123700
ELN111.90.990.98Supravalvar aortic stenosis,185500
ELOVL4104.80.990.97Ichthyosis, spastic quadriplegia, and mental retardation,614457
ELOVL4104.80.990.97Stargardt disease 3600110
ELOVL4104.80.990.97?Spinocerebellar ataxia 34133190
ENAM152.110.99Amelogenesis imperfecta, type IB,104500
ENAM152.110.99Amelogenesis imperfecta, type IC,204650
ENG146.30.980.96Telangiectasia, hereditary hemorrhagic, type 1187300
ENPP1155.50.910.83Arterial calcification, generalized, of infancy, 1208000
ENPP1155.50.910.83Cole disease,615522
ENPP1155.50.910.83Hypophosphatemic rickets, autosomal recessive, 2613312
ENPP1155.50.910.83{Diabetes mellitus, non-insulin-dependent, susceptibility to},125853
ENPP1155.50.910.83{Obesity, susceptibility to},601665
EPG5144.70.990.97Vici syndrome,242840
ERCC2143.510.99Cerebrooculofacioskeletal syndrome 2610756
ERCC2143.510.99Trichothiodystrophy 1 photosensitive,601675
ERCC2143.510.99Xeroderma pigmentosum, group D,278730
ERCC3117.60.990.98Trichothiodystrophy 2 photosensitive,616390
ERCC3117.60.990.98Xeroderma pigmentosum, group B,610651
ERCC4168.40.990.98Fanconi anemia, complementation group Q,615272
ERCC4168.40.990.98Xeroderma pigmentosum, group F,278760
ERCC4168.40.990.98Xeroderma pigmentosum, type F/Cockayne syndrome,278760
ERCC4168.40.990.98?XFE progeroid syndrome,610965
ERCC5161.60.990.99Cerebrooculofacioskeletal syndrome 3616570
ERCC5161.60.990.99Xeroderma pigmentosum, group G,278780
ERCC5161.60.990.99Xeroderma pigmentosum, group G/Cockayne syndrome,278780
ERCC6192.310.99Cerebrooculofacioskeletal syndrome 1214150
ERCC6192.310.99Cockayne syndrome, type B,133540
ERCC6192.310.99De Sanctis-Cacchione syndrome,278800
ERCC6192.310.99Premature ovarian failure 11,616946
ERCC6192.310.99UV-sensitive syndrome 1600630
ERCC6192.310.99{Lung cancer, susceptibility to},211980
ERCC6192.310.99{Macular degeneration, age-related, susceptibility to 5},613761
ERCC895.10.930.81Cockayne syndrome, type A,216400
ERCC895.10.930.81UV-sensitive syndrome 2614621
EVC117.30.930.9Ellis-van Creveld syndrome,225500
EVC117.30.930.9Weyers acrodental dysostosis,193530
EVC2125.80.960.92Ellis-van Creveld syndrome,225500
EVC2125.80.960.92Weyers acrofacial dysostosis,193530
EXPH5225.810.99Epidermolysis bullosa, nonspecific, autosomal recessive,615028
FAM111B165.311Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis,615704
FAM20A118.60.970.92Amelogenesis imperfecta, type IG (enamel-renal syndrome),204690
FAM20C102.30.990.96Raine syndrome,259775
FAM83G134.30.990.99No OMIM phenotype259775
FAM83G134.30.990.99Palmoplantar keratoderma with leukonychia and abundant curly hair (Maruthappu et al, -2016 ESDR)259775
FAM83H83.20.950.89Amelogenesis imperfecta, type III,130900
FANCA130.40.990.98Fanconi anemia, complementation group A,227650
FANCB78.30.950.86Fanconi anemia, complementation group B,300514
FANCC123.20.980.96Fanconi anemia, complementation group C,227645
FANCD2142.70.980.95Fanconi anemia, complementation group D2,227646
FANCE1170.880.85Fanconi anemia, complementation group E,600901
FANCF158.811Fanconi anemia, complementation group F,603467
FANCG149.50.990.99Fanconi anemia, complementation group G,614082
FANCI1820.990.97Fanconi anemia, complementation group I,609053
FANCL860.980.93Fanconi anemia, complementation group L,614083
FANCM108.90.970.92No OMIM phenotype614083
FANCM108.90.970.92Fanconi anemia, complementation group M,614087
FAT4245.810.99Hennekam lymphangiectasia-lymphedema syndrome 2616006
FAT4245.810.99Van Maldergem syndrome 2615546
FBLN5124.60.910.9Cutis laxa, autosomal dominant 2614434
FBLN5124.60.910.9Cutis laxa, autosomal recessive, type IA,219100
FBLN5124.60.910.9Macular degeneration, age-related, 3608895
FBLN5124.60.910.9Neuropathy, hereditary, with or without age-related macular degeneration,608895
FDPS75.80.980.94Porokeratosis 9 multiple types,616631
FECH142.40.990.99Protoporphyria, erythropoietic, autosomal recessive,177000
FERMT1111.70.980.95Kindler syndrome,173650
FGF10150.111Aplasia of lacrimal and salivary glands,180920
FGF10150.111LADD syndrome,149730
FGF23129.90.990.98Hypophosphatemic rickets, autosomal dominant,193100
FGF23129.90.990.98Osteomalacia, tumor-induced193100
FGF23129.90.990.98Tumoral calcinosis, hyperphosphatemic, familial,211900
FGF380.80.950.83Deafness, congenital with inner ear agenesis, microtia, and microdontia,610706
FGF51120.990.96Trichomegaly,190330
FGF8127.40.850.79Hypogonadotropic hypogonadism 6 with or without anosmia,612702
FGFR1161.50.990.97Encephalocraniocutaneous lipomatosis,613001
FGFR1161.50.990.97Hartsfield syndrome,615465
FGFR1161.50.990.97Hypogonadotropic hypogonadism 2 with or without anosmia,147950
FGFR1161.50.990.97Jackson-Weiss syndrome,123150
FGFR1161.50.990.97Osteoglophonic dysplasia,166250
FGFR1161.50.990.97Pfeiffer syndrome,101600
FGFR1161.50.990.97Trigonocephaly 1190440
FGFR2156.40.960.95Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,207410
FGFR2156.40.960.95Apert syndrome,101200
FGFR2156.40.960.95Beare-Stevenson cutis gyrata syndrome,123790
FGFR2156.40.960.95Bent bone dysplasia syndrome,614592
FGFR2156.40.960.95Craniofacial-skeletal-dermatologic dysplasia,101600
FGFR2156.40.960.95Craniosynostosis, nonspecific101600
FGFR2156.40.960.95Crouzon syndrome,123500
FGFR2156.40.960.95Gastric cancer, somatic,613659
FGFR2156.40.960.95Jackson-Weiss syndrome,123150
FGFR2156.40.960.95LADD syndrome,149730
FGFR2156.40.960.95Pfeiffer syndrome,101600
FGFR2156.40.960.95Saethre-Chotzen syndrome,101400
FGFR2156.40.960.95Scaphocephaly and Axenfeld-Rieger anomaly101400
FGFR2156.40.960.95Scaphocephaly, maxillary retrusion, and mental retardation,609579
FGFR3120.20.990.99Achondroplasia,100800
FGFR3120.20.990.99Bladder cancer, somatic,109800
FGFR3120.20.990.99CATSHL syndrome,610474
FGFR3120.20.990.99Cervical cancer, somatic,603956
FGFR3120.20.990.99Colorectal cancer, somatic,114500
FGFR3120.20.990.99Crouzon syndrome with acanthosis nigricans,612247
FGFR3120.20.990.99Hypochondroplasia,146000
FGFR3120.20.990.99LADD syndrome,149730
FGFR3120.20.990.99Muenke syndrome,602849
FGFR3120.20.990.99Nevus, epidermal, somatic,162900
FGFR3120.20.990.99SADDAN,616482
FGFR3120.20.990.99Spermatocytic seminoma, somatic,273300
FGFR3120.20.990.99Thanatophoric dysplasia, type I,187600
FGFR3120.20.990.99Thanatophoric dysplasia, type II,187601
FH175.40.920.88Fumarase deficiency,606812
FH175.40.920.88Leiomyomatosis and renal cell cancer,150800
FKBP10174.60.980.95Bruck syndrome 1259450
FKBP10174.60.980.95Osteogenesis imperfecta, type XI,610968
FKBP1481.30.990.98Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss,614557
FLCN172.10.990.98Birt-Hogg-Dube syndrome,135150
FLCN172.10.990.98Colorectal cancer, somatic,114500
FLCN172.10.990.98Pneumothorax, primary spontaneous,173600
FLCN172.10.990.98Renal carcinoma, chromophobe, somatic,144700
FLG245.110.99Ichthyosis vulgaris,146700
FLG245.110.99{Dermatitis, atopic, susceptibility to, 2},605803
FLG2798.110.99No OMIM phenotype605803
FLG2798.110.99?Atopic dermatitis (Margolis -2014 J Invest Dermatol 134,2272)605803
FLT4181.20.990.98Hemangioma, capillary infantile, somatic,602089
FLT4181.20.990.98Lymphedema, hereditary, IA,153100
FNIP1174.20.990.97No OMIM phenotype153100
FOXC254.50.960.85Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus,153400
FOXC254.50.960.85Lymphedema-distichiasis syndrome,153400
FOXE131.40.760.6Bamforth-Lazarus syndrome,241850
FOXE131.40.760.6{Thyroid cancer, nonmedullary, 4},616534
FOXN1110.90.990.98T-cell immunodeficiency, congenital alopecia, and nail dystrophy,601705
FOXP3136.80.980.91Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked,304790
FOXP3136.80.980.91{Diabetes mellitus, type I, susceptibility to},222100
FREM1156.40.990.98Bifid nose with or without anorectal and renal anomalies,608980
FREM1156.40.990.98Manitoba oculotrichoanal syndrome,248450
FREM1156.40.990.98Trigonocephaly 2614485
FUCA1156.20.990.99Fucosidosis,230000
FZD6225.611Nail disorder, nonsyndromic congenital, 10 (claw-shaped nails),614157
GALNS105.40.990.94Mucopolysaccharidosis IVA,253000
GALNT3144.60.980.94Tumoral calcinosis, hyperphosphatemic, familial,211900
GAN210.80.990.99Giant axonal neuropathy-1,256850
GATA2145.610.99Emberger syndrome,614038
GATA2145.610.99Immunodeficiency 21614172
GATA2145.610.99{Leukemia, acute myeloid, susceptibility to},601626
GATA2145.610.99{Myelodysplastic syndrome, susceptibility to},614286
GDF2170.311Telangiectasia, hereditary hemorrhagic, type 5615506
GDF5156.90.990.99Brachydactyly, type A1, C,615072
GDF5156.90.990.99Brachydactyly, type A2,112600
GDF5156.90.990.99Brachydactyly, type C,113100
GDF5156.90.990.99Chondrodysplasia, Grebe type,200700
GDF5156.90.990.99Du Pan syndrome,228900
GDF5156.90.990.99Multiple synostoses syndrome 2610017
GDF5156.90.990.99Symphalangism, proximal, 1B,615298
GDF5156.90.990.99?Acromesomelic dysplasia, Hunter-Thompson type,201250
GDF5156.90.990.99{Osteoarthritis-5},612400
GGCX124.50.990.98Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency,610842
GGCX124.50.990.98Vitamin K-dependent clotting factors, combined deficiency of, 1277450
GJA1218.111Atrioventricular septal defect 3600309
GJA1218.111Craniometaphyseal dysplasia, autosomal recessive,218400
GJA1218.111Erythrokeratodermia variabilis et progressiva,133200
GJA1218.111Hypoplastic left heart syndrome 1241550
GJA1218.111Oculodentodigital dysplasia,164200
GJA1218.111Oculodentodigital dysplasia, autosomal recessive,257850
GJA1218.111Palmoplantar keratoderma with congenital alopecia,104100
GJA1218.111Syndactyly, type III,186100
GJB2239.711Bart-Pumphrey syndrome,149200
GJB2239.711Deafness, autosomal dominant 3A,601544
GJB2239.711Deafness, autosomal recessive 1A,220290
GJB2239.711Hystrix-like ichthyosis with deafness,602540
GJB2239.711Keratitis-ichthyosis-deafness syndrome,148210
GJB2239.711Keratoderma, palmoplantar, with deafness,148350
GJB2239.711Vohwinkel syndrome,124500
GJB3357.611Deafness, autosomal dominant 2B,612644
GJB3357.611Deafness, autosomal dominant, with peripheral neuropathy612644
GJB3357.611Deafness, autosomal recessive612644
GJB3357.611Deafness, digenic, GJB2/GJB3,220290
GJB3357.611Erythrokeratodermia variabilis et progressiva,133200
GJB442011Erythrokeratodermia variabilis with erythema gyratum repens,133200
GJB6226.911Deafness, autosomal dominant 3B,612643
GJB6226.911Deafness, autosomal recessive 1B,612645
GJB6226.911Deafness, digenic GJB2/GJB6,220290
GJB6226.911Ectodermal dysplasia 2 Clouston type,129500
GJC252.20.850.68Leukodystrophy, hypomyelinating, 2608804
GJC252.20.850.68Lymphedema, hereditary, IC,613480
GJC252.20.850.68Spastic paraplegia 44 autosomal recessive,613206
GLA87.10.990.97Fabry disease,301500
GLA87.10.990.97Fabry disease, cardiac variant,301500
GLB193.90.990.95GM1-gangliosidosis, type I,230500
GLB193.90.990.95GM1-gangliosidosis, type II,230600
GLB193.90.990.95GM1-gangliosidosis, type III,230650
GLB193.90.990.95Mucopolysaccharidosis type IVB (Morquio),253010
GLMN80.80.950.86Glomuvenous malformations,138000
GMPPA148.311Alacrima, achalasia, and mental retardation syndrome,615510
GNA11173.110.99Hypocalcemia, autosomal dominant 2615361
GNA11173.110.99Hypocalciuric hypercalcemia, type II,145981
GNAQ96.60.880.74Capillary malformations, congenital, 1 somatic, mosaic,163000
GNAQ96.60.880.74Sturge-Weber syndrome, somatic, mosaic,185300
GNAS140.10.980.96Acromegaly, somatic,102200
GNAS140.10.980.96ACTH-independent macronodular adrenal hyperplasia,219080
GNAS140.10.980.96McCune-Albright syndrome, somatic, mosaic174800
GNAS140.10.980.96Osseous heteroplasia, progressive,166350
GNAS140.10.980.96Pseudohypoparathyroidism Ia,103580
GNAS140.10.980.96Pseudohypoparathyroidism Ib,603233
GNAS140.10.980.96Pseudohypoparathyroidism Ic,612462
GNAS140.10.980.96Pseudopseudohypoparathyroidism,612463
GORAB197.110.99Geroderma osteodysplasticum,231070
GPR14377.70.910.85Nystagmus 6 congenital, X-linked,300814
GPR14377.70.910.85Ocular albinism, type I, Nettleship-Falls type,300500
GRHL2151.510.99Deafness, autosomal dominant 28608641
GRHL2151.510.99Ectodermal dysplasia/short stature syndrome,616029
GRHL316011Van der Woude syndrome 2606713
GSN131.20.970.93Amyloidosis, Finnish type,105120
GTF2H5149.410.99Trichothiodystrophy 3 photosensitive,616395
HCCS123.610.98Linear skin defects with multiple congenital anomalies 1309801
HDAC8165.110.99Cornelia de Lange syndrome 5300882
HERC2117.30.790.75Mental retardation, autosomal recessive 38615516
HERC2117.30.790.75[Skin/hair/eye pigmentation 1 blond/brown hair],227220
HERC2117.30.790.75[Skin/hair/eye pigmentation 1 blue/nonblue eyes],227220
HLCS193.111Holocarboxylase synthetase deficiency,253270
HMBS117.710.99Porphyria, acute intermittent,176000
HMBS117.710.99Porphyria, acute intermittent, nonerythroid variant,176000
HMGB343.10.910.75?Microphthalmia, syndromic 13300915
HOXC13111.70.950.9Ectodermal dysplasia 9 hair/nail type,614931
HPS1130.10.990.99Hermansky-Pudlak syndrome 1203300
HPS3159.50.990.97Hermansky-Pudlak syndrome 3614072
HPS4159.710.99Hermansky-Pudlak syndrome 4614073
HPS51550.990.98Hermansky-Pudlak syndrome 5614074
HPS6140.90.970.89Hermansky-Pudlak syndrome 6614075
HR104.20.970.94Alopecia universalis,203655
HR104.20.970.94Atrichia with papular lesions,209500
HR104.20.970.94Hypotrichosis 4146550
HRAS195.30.990.99Congenital myopathy with excess of muscle spindles,218040
HRAS195.30.990.99Costello syndrome,218040
HRAS195.30.990.99Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic,163200
HRAS195.30.990.99{Bladder cancer, somatic},109800
HRAS195.30.990.99{Nevus sebaceous or woolly hair nevus, somatic},162900
HRAS195.30.990.99{Spitz nevus or nevus spilus, somatic},137550
HRAS195.30.990.99{Thyroid carcinoma, follicular, somatic},188470
HTRA11130.860.81CARASIL syndrome,600142
HTRA11130.860.81Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2600142
HTRA11130.860.81Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2616779
HTRA11130.860.81{Macular degeneration, age-related, 7},610149
HTRA11130.860.81{Macular degeneration, age-related, neovascular type},610149
HYAL112511?Mucopolysaccharidosis type IX,601492
IDUA116.90.910.85Mucopolysaccharidosis Ih,607014
IDUA116.90.910.85Mucopolysaccharidosis Ih/s,607015
IDUA116.90.910.85Mucopolysaccharidosis Is,607016
IFT122164.410.99Cranioectodermal dysplasia 1218330
IFT43130.611Cranioectodermal dysplasia 3614099
IKBKG56.20.840.7Ectodermal dysplasia, hypohidrotic, with immune deficiency,300291
IKBKG56.20.840.7Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency,300301
IKBKG56.20.840.7Immunodeficiency 33300636
IKBKG56.20.840.7Immunodeficiency, isolated,300584
IKBKG56.20.840.7Incontinentia pigmenti,308300
IKBKG56.20.840.7Invasive pneumococcal disease, recurrent isolated, 2300640
IL17RA136.40.990.96?Candidiasis, familial, 5 autosomal recessive,613953
IL17RD144.80.990.97Hypogonadotropic hypogonadism 18 with or without anosmia,615267
IL1RN186.910.99Interleukin 1 receptor antagonist deficiency,612852
IL1RN186.910.99{Gastric cancer risk after H, pylori infection},137215
IL1RN186.910.99{Microvascular complications of diabetes 4},612628
IL31RA150.810.99Amyloidosis, primary localized cutaneous, 2613955
IL36RN106.910.99Psoriasis 14 pustular,614204
INSR146.50.960.94Diabetes mellitus, insulin-resistant, with acanthosis nigricans,610549
INSR146.50.960.94Hyperinsulinemic hypoglycemia, familial, 5609968
INSR146.50.960.94Leprechaunism,246200
INSR146.50.960.94Rabson-Mendenhall syndrome,262190
IRF4198.70.990.99[Skin/hair/eye pigmentation, variation in, 8],611724
IRF61360.990.97Popliteal pterygium syndrome 1119500
IRF61360.990.97van der Woude syndrome,119300
IRF61360.990.97{Orofacial cleft 6},608864
ITGA3154.50.990.97Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital,614748
ITGA6165.80.990.98Epidermolysis bullosa, junctional, with pyloric stenosis,226730
ITGB4162.40.970.94Epidermolysis bullosa of hands and feet,131800
ITGB4162.40.970.94Epidermolysis bullosa, junctional, non-Herlitz type,226650
ITGB4162.40.970.94Epidermolysis bullosa, junctional, with pyloric atresia,226730
ITGB6169.40.950.94Amelogenesis imperfecta, type IH,616221
JUP1590.990.98Arrhythmogenic right ventricular dysplasia 12611528
JUP1590.990.98Naxos disease,601214
KAL1106.40.890.87Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1),308700
KANK2159.10.990.99Palmoplantar keratoderma and woolly hair,616099
KAT6B202.70.990.98Genitopatellar syndrome,606170
KAT6B202.70.990.98SBBYSS syndrome,603736
KCNH1198.910.99Temple-Baraitser syndrome,611816
KCNH1198.910.99Zimmermann-Laband syndrome 1135500
KCNK9195.611Birk-Barel mental retardation dysmorphism syndrome,612292
KIF1191.90.960.93Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation,152950
KIT17510.99Gastrointestinal stromal tumor, familial,606764
KIT17510.99Germ cell tumors,273300
KIT17510.99Leukemia, acute myeloid,601626
KIT17510.99Mast cell disease,154800
KIT17510.99Piebaldism,172800
KITLG89.70.940.9Deafness, congenital, unilateral or asymmetric,616697
KITLG89.70.940.9Hyperpigmentation with or without hypopigmentation,145250
KITLG89.70.940.9[Skin/hair/eye pigmentation 7 blond/brown hair],611664
KLK4210.90.990.98Amelogenesis imperfecta, type IIA1,204700
KLLN121.910.99Cowden syndrome 4615107
KMT2D162.10.990.99Kabuki syndrome 1147920
KRAS72.10.990.96Bladder cancer, somatic,109800
KRAS72.10.990.96Breast cancer, somatic,114480
KRAS72.10.990.96Cardiofaciocutaneous syndrome 2615278
KRAS72.10.990.96Gastric cancer, somatic,137215
KRAS72.10.990.96Leukemia, acute myeloid,601626
KRAS72.10.990.96Lung cancer, somatic,211980
KRAS72.10.990.96Noonan syndrome 3609942
KRAS72.10.990.96Pancreatic carcinoma, somatic,260350
KRAS72.10.990.96RAS-associated autoimmune leukoproliferative disorder,614470
KRAS72.10.990.96Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic,163200
KRT1151.50.990.96Epidermolytic hyperkeratosis,113800
KRT1151.50.990.96Ichthyosis histrix, Curth-Macklin type,146590
KRT1151.50.990.96Ichthyosis, cyclic, with epidermolytic hyperkeratosis,607602
KRT1151.50.990.96Keratosis palmoplantaris striata III,607654
KRT1151.50.990.96Palmoplantar keratoderma, epidermolytic,144200
KRT1151.50.990.96Palmoplantar keratoderma, nonepidermolytic,600962
KRT10117.50.970.93Epidermolytic hyperkeratosis,113800
KRT10117.50.970.93Ichthyosis with confetti,609165
KRT10117.50.970.93Ichthyosis, cyclic, with epidermolytic hyperkeratosis,607602
KRT13145.90.990.98White sponge nevus 2615785
KRT1460.40.890.82Dermatopathia pigmentosa reticularis,125595
KRT1460.40.890.82Epidermolysis bullosa simplex, Dowling-Meara type,131760
KRT1460.40.890.82Epidermolysis bullosa simplex, Koebner type,131900
KRT1460.40.890.82Epidermolysis bullosa simplex, recessive 1601001
KRT1460.40.890.82Epidermolysis bullosa simplex, Weber-Cockayne type,131800
KRT1460.40.890.82Naegeli-Franceschetti-Jadassohn syndrome,161000
KRT1638.20.730.54Pachyonychia congenita 1167200
KRT1638.20.730.54Palmoplantar keratoderma, nonepidermolytic, focal,613000
KRT1723.90.560.35Pachyonychia congenita 2167210
KRT1723.90.560.35Steatocystoma multiplex,184500
KRT2143.90.990.99Ichthyosis bullosa of Siemens,146800
KRT4130.910.99White sponge nevus 1193900
KRT5137.90.990.99Dowling-Degos disease 1179850
KRT5137.90.990.99Epidermolysis bullosa simplex, Dowling-Meara type,131760
KRT5137.90.990.99Epidermolysis bullosa simplex, Koebner type,131900
KRT5137.90.990.99Epidermolysis bullosa simplex, recessive 1601001
KRT5137.90.990.99Epidermolysis bullosa simplex, Weber-Cockayne type,131800
KRT5137.90.990.99Epidermolysis bullosa simplex-MP,131960
KRT5137.90.990.99Epidermylysis bullosa simplex-MCR,609352
KRT6A189.50.930.87Pachyonychia congenita 3615726
KRT6B190.30.940.89Pachyonychia congenita 4615728
KRT6C174.70.880.8Palmoplantar keratoderma, nonepidermolytic, focal or diffuse,615735
KRT7115410.99?Hypotrichosis 13615896
KRT74156.610.99?Ectodermal dysplasia 7 hair/nail type,614929
KRT74156.610.99?Hypotrichosis 3613981
KRT74156.610.99Woolly hair, autosomal dominant,194300
KRT75145.110.99{Pseudofolliculitis barbae, susceptibility to},612318
KRT8198.30.980.94Monilethrix,158000
KRT8384.50.980.9?Monilethrix,158000
KRT85112.30.980.93Ectodermal dysplasia 4 hair/nail type,602032
KRT86103.40.990.94Monilethrix,158000
KRT985.20.970.94Palmoplantar keratoderma, epidermolytic,144200
LAMA3173.50.990.99Epidermolysis bullosa, generalized atrophic benign,226650
LAMA3173.50.990.99Epidermolysis bullosa, junctional, Herlitz type,226700
LAMA3173.50.990.99Laryngoonychocutaneous syndrome,245660
LAMB3131.610.99Amelogenesis imperfecta, type IA,104530
LAMB3131.610.99Epidermolysis bullosa, junctional, Herlitz type,226700
LAMB3131.610.99Epidermolysis bullosa, junctional, non-Herlitz type,226650
LAMC2131.40.990.98Epidermolysis bullosa, junctional, Herlitz type,226700
LAMC2131.40.990.98Epidermolysis bullosa, junctional, non-Herlitz type,226650
LAMTOR2175.911Immunodeficiency due to defect in MAPBP-interacting protein,610798
LDHA60.10.920.86Glycogen storage disease XI,612933
LDLRAP1168.70.990.96Hypercholesterolemia, familial, autosomal recessive,603813
LEMD3111.70.950.9Buschke-Ollendorff syndrome,166700
LEMD3111.70.950.9Melorheostosis with osteopoikilosis,155950
LEMD3111.70.950.9Osteopoikilosis,166700
LIPH148.310.99Hypotrichosis 7604379
LIPH148.310.99Woolly hair, autosomal recessive 2 with or without hypotrichosis,604379
LIPN155.40.990.96Ichthyosis, congenital, autosomal recessive 8613943
LMBRD181.30.890.81Methylmalonic aciduria and homocystinuria, cblF type,277380
LMNA90.40.960.89Cardiomyopathy, dilated, 1A,115200
LMNA90.40.960.89Charcot-Marie-Tooth disease, type 2B1,605588
LMNA90.40.960.89Emery-Dreifuss muscular dystrophy 2 AD,181350
LMNA90.40.960.89Emery-Dreifuss muscular dystrophy 3 AR,616516
LMNA90.40.960.89Heart-hand syndrome, Slovenian type,610140
LMNA90.40.960.89Hutchinson-Gilford progeria,176670
LMNA90.40.960.89Lipodystrophy, familial partial, 2151660
LMNA90.40.960.89Malouf syndrome,212112
LMNA90.40.960.89Mandibuloacral dysplasia,248370
LMNA90.40.960.89Muscular dystrophy, congenital,613205
LMNA90.40.960.89Muscular dystrophy, limb-girdle, type 1B,159001
LMNA90.40.960.89Restrictive dermopathy, lethal,275210
LMX1B130.30.990.95Nail-patella syndrome,161200
LONP1168.10.970.95CODAS syndrome,600373
LOR21.70.880.54Vohwinkel syndrome with ichthyosis,604117
LPAR6115.90.990.98Hypotrichosis 8278150
LPAR6115.90.990.98Woolly hair, autosomal recessive 1 with or without hypotrichosis,278150
LPIN2129.60.990.99Majeed syndrome,609628
LTBP3126.40.980.96Dental anomalies and short stature,601216
LTBP4125.80.980.95Cutis laxa, autosomal recessive, type IC,613177
LYST151.30.970.94Chediak-Higashi syndrome,214500
LYZ192.211Amyloidosis, renal,105200
MAP2K1107.30.990.95Cardiofaciocutaneous syndrome 3615279
MAP2K2118.50.970.92Cardiofaciocutaneous syndrome 4615280
MBTPS2142.60.990.97IFAP syndrome with or without BRESHECK syndrome,308205
MBTPS2142.60.990.97Keratosis follicularis spinulosa decalvans, X-linked,308800
MBTPS2142.60.990.97?Olmsted syndrome, X-linked,300918
MED12116.50.980.95Lujan-Fryns syndrome,309520
MED12116.50.980.95Ohdo syndrome, X-linked,300895
MED12116.50.980.95Opitz-Kaveggia syndrome,305450
MEFV131.10.950.91Familial Mediterranean fever, AD,134610
MEFV131.10.950.91Familial Mediterranean fever, AR,249100
MGP164.50.920.91Keutel syndrome,245150
MITF1630.990.99Tietz albinism-deafness syndrome,103500
MITF1630.990.99Waardenburg syndrome, type 2A,193510
MITF1630.990.99Waardenburg syndrome/ocular albinism, digenic,103470
MITF1630.990.99{Melanoma, cutaneous malignant, susceptibility to, 8},614456
MLH1188.510.99Colorectal cancer, hereditary nonpolyposis, type 2609310
MLH1188.510.99Mismatch repair cancer syndrome,276300
MLH1188.510.99Muir-Torre syndrome,158320
MLPH104.80.990.96Griscelli syndrome, type 3609227
MMACHC205.311Methylmalonic aciduria and homocystinuria, cblC type,277400
MMP2172.40.990.99Multicentric osteolysis, nodulosis, and arthropathy,259600
MMP20117.50.990.99Amelogenesis imperfecta, type IIA2,612529
MPLKIP87.30.940.81Trichothiodystrophy 4 nonphotosensitive,234050
MRE11A57.60.950.85Ataxia-telangiectasia-like disorder,604391
MSH21220.980.92Colorectal cancer, hereditary nonpolyposis, type 1120435
MSH21220.980.92Mismatch repair cancer syndrome,276300
MSH21220.980.92Muir-Torre syndrome,158320
MSX188.10.970.91Ectodermal dysplasia 3 Witkop type,189500
MSX188.10.970.91Orofacial cleft 5608874
MSX188.10.970.91Tooth agenesis, selective, 1 with or without orofacial cleft,106600
MTOR152.810.99Smith-Kingsmore syndrome,616638
MUTYH164.20.990.99Adenomas, multiple colorectal,608456
MUTYH164.20.990.99Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas,132600
MUTYH164.20.990.99Gastric cancer, somatic,613659
MVD116.410.99Porokeratosis 7 multiple types,614714
MVK146.110.99Hyper-IgD syndrome,260920
MVK146.110.99Mevalonic aciduria,610377
MVK146.110.99Porokeratosis 3 multiple types,175900
MYH8148.60.990.99Carney complex variant,608837
MYH8148.60.990.99Trismus-pseudocamptodactyly syndrome,158300
MYO5A142.90.990.97Griscelli syndrome, type 1214450
NAA101110.990.96Ogden syndrome,300855
NAA101110.990.96?Microphthalmia, syndromic 1309800
NAGA162.611Kanzaki disease,609242
NAGA162.611Schindler disease, type I,609241
NAGA162.611Schindler disease, type III,609241
NBAS159.50.990.97Infantile liver failure syndrome 2616483
NBAS159.50.990.97Short stature, optic nerve atrophy, and Pelger-Huet anomaly,614800
NCSTN127.910.99Acne inversa, familial, 1142690
NDUFB11101.40.940.84Linear skin defects with multiple congenital anomalies 3300952
NF1140.50.930.89Leukemia, juvenile myelomonocytic,607785
NF1140.50.930.89Neurofibromatosis, familial spinal,162210
NF1140.50.930.89Neurofibromatosis, type 1162200
NF1140.50.930.89Neurofibromatosis-Noonan syndrome,601321
NF1140.50.930.89Watson syndrome,193520
NFKBIA117.70.980.94Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency,612132
NHP287.30.990.98Dyskeratosis congenita, autosomal recessive 2613987
NIPAL4151.50.990.94Ichthyosis, congenital, autosomal recessive 6612281
NIPBL129.30.960.94Cornelia de Lange syndrome 1122470
NLRP11370.990.96?Corneal intraepithelial dyskeratosis and ectodermal dysplasia,615225
NLRP11370.990.96{Vitiligo-associated multiple autoimmune disease susceptibility 1},606579
NLRP3153.210.99CINCA syndrome,607115
NLRP3153.210.99Familial cold-induced inflammatory syndrome 1120100
NLRP3153.210.99Muckle-Wells syndrome,191900
NME1109.20.990.98Neuroblastoma,256700
NOD2148.910.99Blau syndrome,186580
NOD2148.910.99Sarcoidosis, early-onset,609464
NOD2148.910.99{Inflammatory bowel disease 1},266600
NOD2148.910.99{Psoriatic arthritis, susceptibility to},607507
NOP10189.411Dyskeratosis congenita, autosomal recessive 1224230
NOTCH1150.20.990.98Adams-Oliver syndrome 5616028
NOTCH1150.20.990.98Aortic valve disease 1109730
NRAS205.711Colorectal cancer, somatic,114500
NRAS205.711Epidermal nevus, somatic,162900
NRAS205.711Melanocytic nevus syndrome, congenital, somatic,137550
NRAS205.711Neurocutaneous melanosis, somatic,249400
NRAS205.711Noonan syndrome 6613224
NRAS205.711Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic,163200
NRAS205.711Thyroid carcinoma, follicular, somatic,188470
NRAS205.711?RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic,614470
NSD1172.310.99Beckwith-Wiedemann syndrome,130650
NSD1172.310.99Leukemia, acute myeloid,601626
NSD1172.310.99Sotos syndrome 1117550
NSDHL205.20.990.99CHILD syndrome,308050
NSDHL205.20.990.99CK syndrome,300831
OCA2147.70.980.96Albinism, brown oculocutaneous,203200
OCA2147.70.980.96Albinism, oculocutaneous, type II,203200
OCA2147.70.980.96[Skin/hair/eye pigmentation 1 blond/brown hair],227220
OCA2147.70.980.96[Skin/hair/eye pigmentation 1 blue/nonblue eyes],227220
ODAM130.10.960.88No OMIM phenotype227220
OFD156.10.840.71Joubert syndrome 10300804
OFD156.10.840.71Orofaciodigital syndrome I,311200
OFD156.10.840.71Simpson-Golabi-Behmel syndrome, type 2300209
OFD156.10.840.71?Retinitis pigmentosa 23300424
OSMR159.910.99Amyloidosis, primary localized cutaneous, 1105250
PAH191.311Phenylketonuria,261600
PAH191.311[Hyperphenylalaninemia, non-PKU mild],261600
PALB2180.110.99Fanconi anemia, complementation group N,610832
PALB2180.110.99{Breast cancer, susceptibility to},114480
PALB2180.110.99{Pancreatic cancer, susceptibility to, 3},613348
PAX3129.70.990.99Craniofacial-deafness-hand syndrome,122880
PAX3129.70.990.99Rhabdomyosarcoma 2 alveolar,268220
PAX3129.70.990.99Waardenburg syndrome, type 1193500
PAX3129.70.990.99Waardenburg syndrome, type 3148820
PAX9254.30.990.98Tooth agenesis, selective, 3604625
PCNA102.90.990.98?Ataxia-telangiectasia-like disorder,615919
PDGFB107.810.99Basal ganglia calcification, idiopathic, 5615483
PDGFB107.810.99Dermatofibrosarcoma protuberans,607907
PDGFB107.810.99Meningioma, SIS-related,607174
PDGFRB166.40.990.97Basal ganglia calcification, idiopathic, 4615007
PDGFRB166.40.990.97Kosaki overgrowth syndrome,616592
PDGFRB166.40.990.97Myeloproliferative disorder with eosinophilia,131440
PDGFRB166.40.990.97Myofibromatosis, infantile, 1228550
PDGFRB166.40.990.97Premature aging syndrome, Penttinen type,601812
PEPD121.40.990.98Prolidase deficiency,170100
PEX7138.50.890.85Peroxisome biogenesis disorder 9B,614879
PEX7138.50.890.85Rhizomelic chondrodysplasia punctata, type 1215100
PHEX145.50.980.96Hypophosphatemic rickets, X-linked dominant,307800
PHGDH138.610.99Neu-Laxova syndrome 1256520
PHGDH138.610.99Phosphoglycerate dehydrogenase deficiency,601815
PHYH86.50.980.92Refsum disease,266500
PIEZO1156.30.990.97Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema,266500
PIEZO1156.30.990.97Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema,194380
PIEZO1156.30.990.97Lymphedema, hereditary, III,616843
PIGA102.10.920.84Multiple congenital anomalies-hypotonia-seizures syndrome 2300868
PIGA102.10.920.84Paroxysmal nocturnal hemoglobinuria, somatic,300818
PIGN128.60.950.89Multiple congenital anomalies-hypotonia-seizures syndrome 1614080
PIGV171.111Hyperphosphatasia with mental retardation syndrome 1239300
PIK3CA136.50.990.98Breast cancer, somatic,114480
PIK3CA136.50.990.98CLOVE syndrome, somatic,612918
PIK3CA136.50.990.98Colorectal cancer, somatic,114500
PIK3CA136.50.990.98Cowden syndrome 5615108
PIK3CA136.50.990.98Gastric cancer, somatic,613659
PIK3CA136.50.990.98Hepatocellular carcinoma, somatic,114550
PIK3CA136.50.990.98Keratosis, seborrheic, somatic,182000
PIK3CA136.50.990.98Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic,602501
PIK3CA136.50.990.98Nevus, epidermal, somatic,162900
PIK3CA136.50.990.98Nonsmall cell lung cancer, somatic,211980
PIK3CA136.50.990.98Ovarian cancer, somatic,167000
PITX2155.70.990.97Axenfeld-Rieger syndrome, type 1180500
PITX2155.70.990.97Iridogoniodysgenesis, type 2137600
PITX2155.70.990.97Peters anomaly,604229
PITX2155.70.990.97Ring dermoid of cornea,180550
PKP1135.10.990.98Ectodermal dysplasia/skin fragility syndrome,604536
PLCD1124.10.990.97Nail disorder, nonsyndromic congenital, 3 (leukonychia),151600
PLCG2133.610.99Autoinflammation, antibody deficiency, and immune dysregulation syndrome,614878
PLCG2133.610.99Familial cold autoinflammatory syndrome 3614468
PLEC114.20.990.98Epidermolysis bullosa simplex with muscular dystrophy,226670
PLEC114.20.990.98Epidermolysis bullosa simplex with pyloric atresia,612138
PLEC114.20.990.98Epidermolysis bullosa simplex, Ogna type,131950
PLEC114.20.990.98Muscular dystrophy, limb-girdle, type 2Q,613723
PLEC114.20.990.98?Epidermolysis bullosa simplex with nail dystrophy,616487
PLG133.10.870.87Dysplasminogenemia,217090
PLG133.10.870.87Plasminogen deficiency, type I,217090
PLIN192.40.970.89Lipodystrophy, familial partial, type 4613877
PLOD1149.810.99Ehlers-Danlos syndrome, type VI,225400
PMS295.90.830.8Colorectal cancer, hereditary nonpolyposis, type 4614337
PMS295.90.830.8Mismatch repair cancer syndrome,276300
PMVK12410.99Porokeratosis 1 multiple types,175800
PNPLA1194.60.990.98Ichthyosis, congenital, autosomal recessive 10615024
PNPLA2127.60.990.97Neutral lipid storage disease with myopathy,610717
POC1A150.510.99Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis,614813
POFUT1154.10.990.97Dowling-Degos disease 2615327
POGLUT1146.80.990.95Dowling-Degos disease 4615696
POLD1108.50.940.91Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome,615381
POLD1108.50.940.91{Colorectal cancer, susceptibility to, 10},612591
POLH171.710.99Xeroderma pigmentosum, variant type,278750
POLR1C124.80.990.95Leukodystrophy, hypomyelinating, 11616494
POLR1C124.80.990.95Treacher Collins syndrome 3248390
POLR1D196.111Treacher Collins syndrome 2613717
POLR3A162.210.99Leukodystrophy, hypomyelinating, 7 with or without oligodontia and/or hypogonadotropic613717
POLR3A162.210.99hypogonadism,607694
POLR3B168.90.990.98Leukodystrophy, hypomyelinating, 8 with or without oligodontia and/or hypogonadotropic607694
POLR3B168.90.990.98hypogonadism,614381
POMC101.810.99Obesity, adrenal insufficiency, and red hair due to POMC deficiency,609734
POMC101.810.99{Obesity, early-onset, susceptibility to},601665
POMP146.60.910.87Keratosis linearis with ichthyosis congenita and sclerosing keratoderma,601952
PORCN145.410.99Focal dermal hypoplasia,305600
PPOX108.10.990.97Porphyria variegata,176200
PQBP1174.30.970.96Renpenning syndrome,309500
PRKAR1A102.80.970.91Acrodysostosis 1 with or without hormone resistance,101800
PRKAR1A102.80.970.91Adrenocortical tumor, somatic,101800
PRKAR1A102.80.970.91Carney complex, type 1160980
PRKAR1A102.80.970.91Myxoma, intracardiac,255960
PRKAR1A102.80.970.91Pigmented nodular adrenocortical disease, primary, 1610489
PSEN1161.60.990.98Acne inversa, familial, 3613737
PSEN1161.60.990.98Alzheimer disease, type 3607822
PSEN1161.60.990.98Alzheimer disease, type 3 with spastic paraparesis and apraxia,607822
PSEN1161.60.990.98Alzheimer disease, type 3 with spastic paraparesis and unusual plaques,607822
PSEN1161.60.990.98Cardiomyopathy, dilated, 1U,613694
PSEN1161.60.990.98Dementia, frontotemporal,600274
PSEN1161.60.990.98Pick disease,172700
PSENEN93.70.990.99Acne inversa, familial, 2613736
PSMB816.10.570.25Autoinflammation, lipodystrophy, and dermatosis syndrome,256040
PSTPIP199.80.990.95Pyogenic sterile arthritis, pyoderma gangrenosum, and acne,604416
PTCH1138.60.980.96Basal cell carcinoma, somatic,605462
PTCH1138.60.980.96Basal cell nevus syndrome,109400
PTCH1138.60.980.96Holoprosencephaly-7,610828
PTCH2130.20.990.97Basal cell carcinoma, somatic,605462
PTCH2130.20.990.97Basal cell nevus syndrome,109400
PTCH2130.20.990.97Medulloblastoma,155255
PTDSS1151.711Lenz-Majewski hyperostotic dwarfism,151050
PTEN152.40.990.98Bannayan-Riley-Ruvalcaba syndrome,153480
PTEN152.40.990.98Cowden syndrome 1158350
PTEN152.40.990.98Endometrial carcinoma, somatic,608089
PTEN152.40.990.98Lhermitte-Duclos syndrome,158350
PTEN152.40.990.98Macrocephaly/autism syndrome,605309
PTEN152.40.990.98Malignant melanoma, somatic,155600
PTEN152.40.990.98PTEN hamartoma tumor syndrome155600
PTEN152.40.990.98Squamous cell carcinoma, head and neck, somatic,275355
PTEN152.40.990.98VATER association with macrocephaly and ventriculomegaly,276950
PTEN152.40.990.98{Glioma susceptibility 2},613028
PTEN152.40.990.98{Meningioma},607174
PTEN152.40.990.98{Prostate cancer, somatic},176807
PTHLH146.80.980.89Brachydactyly, type E2,613382
PTHLH146.80.980.89Humoral hypercalcemia of malignancy613382
PTPN11101.20.960.9LEOPARD syndrome 1151100
PTPN11101.20.960.9Leukemia, juvenile myelomonocytic, somatic,607785
PTPN11101.20.960.9Metachondromatosis,156250
PTPN11101.20.960.9Noonan syndrome 1163950
PTPN14199.60.990.98Choanal atresia and lymphedema,613611
PTPRF194.811?Breasts and/or nipples, aplasia or hypoplasia of, 2616001
PTRF142.90.990.98Lipodystrophy, congenital generalized, type 4613327
PVRL116310.99Cleft lip/palate-ectodermal dysplasia syndrome,225060
PVRL116310.99Orofacial cleft 7225060
PVRL4146.810.99Ectodermal dysplasia-syndactyly syndrome 1613573
PYCR1105.40.990.94Cutis laxa, autosomal recessive, type IIB,612940
PYCR1105.40.990.94Cutis laxa, autosomal recessive, type IIIB,614438
RAB23121.60.990.98Carpenter syndrome,201000
RAB27A17810.98Griscelli syndrome, type 2607624
RAD2197.70.990.96Cornelia de Lange syndrome 4614701
RAD50106.10.920.85Nijmegen breakage syndrome-like disorder,613078
RAF113810.99Cardiomyopathy, dilated, 1NN,615916
RAF113810.99LEOPARD syndrome 2611554
RAF113810.99Noonan syndrome 5611553
RAG1230.711Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection,611553
RAG1230.711and autoimmunity,609889
RAG1230.711Combined cellular and humoral immune defects with granulomas,233650
RAG1230.711Omenn syndrome,603554
RAG1230.711Severe combined immunodeficiency, B cell-negative,601457
RAG2258.810.99Combined cellular and humoral immune defects with granulomas,233650
RAG2258.810.99Omenn syndrome,603554
RAG2258.810.99Severe combined immunodeficiency, B cell-negative,601457
RAI1142.210.99Smith-Magenis syndrome,182290
RBBP8112.70.990.95Jawad syndrome,251255
RBBP8112.70.990.95Pancreatic carcinoma, somatic251255
RBBP8112.70.990.95Seckel syndrome 2606744
RBM28160.711?Alopecia, neurologic defects, and endocrinopathy syndrome,612079
RBP4120.70.980.96Microphthalmia, isolated, with coloboma 10616428
RBP4120.70.980.96Retinal dystrophy, iris coloboma, and comedogenic acne syndrome,615147
RBPJ86.40.930.85Adams-Oliver syndrome 3614814
RECQL41500.980.97Baller-Gerold syndrome,218600
RECQL41500.980.97RAPADILINO syndrome,266280
RECQL41500.980.97Rothmund-Thomson syndrome,268400
RHBDF2113.10.990.98Tylosis with esophageal cancer,148500
RIN2122.20.990.99Macrocephaly, alopecia, cutis laxa, and scoliosis,613075
RIPK4157.60.990.99Popliteal pterygium syndrome, Bartsocas-Papas type,263650
RIPK4157.60.990.99RMRP NC NC NC Anauxetic dysplasia,607095
RIPK4157.60.990.99Cartilage-hair hypoplasia,250250
RIPK4157.60.990.99Metaphyseal dysplasia without hypotrichosis,250460
RNASEH2A149.310.99Aicardi-Goutieres syndrome 4610333
RNASEH2B125.10.940.84Aicardi-Goutieres syndrome 2610181
RNASEH2C207.60.990.97Aicardi-Goutieres syndrome 3610329
RNASEH2C207.60.990.97RNU4ATAC NC NC NC Microcephalic osteodysplastic primordial dwarfism, type I,210710
RNASEH2C207.60.990.97Roifman syndrome,616651
ROGDI1340.970.95Kohlschutter-Tonz syndrome,226750
RPL21750.720.57Hypotrichosis 12615885
RSPO1123.910.99Palmoplantar hyperkeratosis and true hermaphroditism,610644
RSPO1123.910.99Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal,610644
RSPO4118.510.98Anonychia congenita,206800
RTEL1127.40.990.96Dyskeratosis congenita, autosomal dominant 4615190
RTEL1127.40.990.96Dyskeratosis congenita, autosomal recessive 5615190
RTEL1127.40.990.96Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3616373
RUNX2106.20.740.74Cleidocranial dysplasia,119600
RUNX2106.20.740.74Cleidocranial dysplasia, forme fruste, dental anomalies only,119600
RUNX2106.20.740.74Cleidocranial dysplasia, forme fruste, with brachydactyly,119600
RUNX2106.20.740.74Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly,156510
SAMD9183.80.990.98MIRAGE syndrome,617053
SAMD9183.80.990.98Tumoral calcinosis, familial, normophosphatemic,610455
SAMHD1149.90.990.98Aicardi-Goutieres syndrome 5612952
SAMHD1149.90.990.98?Chilblain lupus 2614415
SART3142.70.990.98No OMIM phenotype614415
SART3142.70.990.98Disseminated superficial actinic porokeratosis (Zhang -2005 Br J Dermatol 152,658)614415
SASH1151.80.980.96No OMIM phenotype614415
SASH1151.80.980.96Lentiginosis, autosomal dominant (Shellman -2015 J Invest Dermatol 135,3192)614415
SASH1151.80.980.96Pigmentation defects, palmoplantar keratoderma and skin carcinoma (Courcet -2015 Eur J Hum Genet614415
SASH1151.80.980.9623,957)614415
SAT1162.60.990.98No OMIM phenotype614415
SAT1162.60.990.98Keratosis follicularis spinulosa decalvans (Gimelli -2002 Hum Genet 111,235)614415
SATB2120.10.980.93Glass syndrome,612313
SCN10A194.20.990.99Episodic pain syndrome, familial, 2615551
SCN11A1550.990.97Episodic pain syndrome, familial, 3615552
SCN11A1550.990.97Neuropathy, hereditary sensory and autonomic, type VII,615548
SCN9A160.50.980.96Epilepsy, generalized, with febrile seizures plus, type 7613863
SCN9A160.50.980.96Erythermalgia, primary,133020
SCN9A160.50.980.96Febrile seizures, familial, 3B,613863
SCN9A160.50.980.96HSAN2D, autosomal recessive,243000
SCN9A160.50.980.96Insensitivity to pain, congenital,243000
SCN9A160.50.980.96Paroxysmal extreme pain disorder,167400
SCN9A160.50.980.96Small fiber neuropathy,133020
SCN9A160.50.980.96{Dravet syndrome, modifier of},607208
SEC23B185.20.970.96Cowden syndrome 7616858
SEC23B185.20.970.96Dyserythropoietic anemia, congenital, type II,224100
SERPINB7147.90.990.99Palmoplantar keratoderma, Nagashima type,615598
SERPINB8167.210.99Peeling skin syndrome 5,617115
SERPINH117111?Osteogenesis imperfecta, type X,613848
SERPINH117111{Preterm premature rupture of the membranes, susceptibility to},610504
SHOC2148.90.990.98Noonan-like syndrome with loose anagen hair,607721
SKI90.10.980.95Shprintzen-Goldberg syndrome,182212
SKIV2L26.90.80.57Trichohepatoenteric syndrome 2614602
SLC17A9130.30.950.95Porokeratosis 8 disseminated superficial actinic type,616063
SLC24A41430.990.98Amelogenesis imperfecta, type IIA5,615887
SLC24A41430.990.98[Skin/hair/eye pigmentation 6 blond/brown hair],210750
SLC24A41430.990.98[Skin/hair/eye pigmentation 6 blue/green eyes],210750
SLC24A51230.980.94Albinism, oculocutaneous, type VI,113750
SLC24A51230.980.94[Skin/hair/eye pigmentation 4 fair/dark skin],113750
SLC26A226611Achondrogenesis Ib,600972
SLC26A226611Atelosteogenesis II,256050
SLC26A226611De la Chapelle dysplasia,256050
SLC26A226611Diastrophic dysplasia,222600
SLC26A226611Diastrophic dysplasia, broad bone-platyspondylic variant,222600
SLC26A226611Epiphyseal dysplasia, multiple, 4226900
SLC27A4166.20.990.99Ichthyosis prematurity syndrome,608649
SLC29A3226.40.990.99Histiocytosis-lymphadenopathy plus syndrome,602782
SLC2A10171.210.99Arterial tortuosity syndrome,208050
SLC39A13124.20.990.97Spondylocheirodysplasia, Ehlers-Danlos syndrome-like,612350
SLC39A488.40.990.96Acrodermatitis enteropathica,201100
SLC45A2146.20.990.99Albinism, oculocutaneous, type IV,606574
SLC45A2146.20.990.99[Skin/hair/eye pigmentation 5 black/nonblack hair],227240
SLC45A2146.20.990.99[Skin/hair/eye pigmentation 5 dark/fair skin],227240
SLC45A2146.20.990.99[Skin/hair/eye pigmentation 5 dark/light eyes],227240
SLC4A4150.30.990.98Renal tubular acidosis, proximal, with ocular abnormalities,604278
SLC6A19173.80.990.99Hartnup disorder,234500
SLC6A19173.80.990.99Hyperglycinuria,138500
SLC6A19173.80.990.99Iminoglycinuria, digenic,242600
SLC7A7127.211Lysinuric protein intolerance,222700
SLCO2A1114.90.990.99Hypertrophic osteoarthropathy, primary, autosomal recessive 2614441
SLURP1112.50.990.94Meleda disease,248300
SLX4127.410.99Fanconi anemia, complementation group P,613951
SMAD3142.20.990.98Loeys-Dietz syndrome 3613795
SMARCA2131.10.960.94Nicolaides-Baraitser syndrome,601358
SMARCA4156.70.990.98Coffin-Siris syndrome 4614609
SMARCA4156.70.990.98{Rhabdoid tumor predisposition syndrome 2},613325
SMARCAD188.20.980.92Adermatoglyphia,136000
SMARCAL1148.210.99Schimke immunoosseous dysplasia,242900
SMARCB1248.911Coffin-Siris syndrome 3614608
SMARCB1248.911Rhabdoid tumors, somatic,609322
SMARCB1248.911{Rhabdoid predisposition syndrome 1},609322
SMARCB1248.911{Schwannomatosis-1, susceptibility to},162091
SMO169.50.970.92Basal cell carcinoma, somatic,605462
SMO169.50.970.92Curry-Jones syndrome,somatic mosaic,601707
SMOC2119.40.970.92Dentin dysplasia, type I, with microdontia and misshapen teeth,125400
SNAI2151.210.99Piebaldism,172800
SNAI2151.210.99Waardenburg syndrome, type 2D,608890
SNAP29160.111Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome,609528
SNRPE100.50.990.94Hypotrichosis 11615059
SNX10117.910.99Osteopetrosis, autosomal recessive 8615085
SOS1106.90.960.9Noonan syndrome 4610733
SOS1106.90.960.9?Fibromatosis, gingival, 1135300
SOX1080.40.970.93PCWH syndrome,609136
SOX1080.40.970.93Waardenburg syndrome, type 2E, with or without neurologic involvement,611584
SOX1080.40.970.93Waardenburg syndrome, type 4C,613266
SOX1827.10.830.59Hypotrichosis-lymphedema-telangiectasia syndrome,607823
SOX1827.10.830.59Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome,137940
SOX2111.40.990.97Microphthalmia, syndromic 3206900
SOX2111.40.990.97Optic nerve hypoplasia and abnormalities of the central nervous system,206900
SP7182.311?Osteogenesis imperfecta, type XII,613849
SPINK5170.10.990.96Atopy,147050
SPINK5170.10.990.96Netherton syndrome,256500
SPINT268.30.980.9Diarrhea 3 secretory sodium, congenital, syndromic,270420
SPRED1187.20.980.96Legius syndrome,611431
SPRY41530.990.99Hypogonadotropic hypogonadism 17 with or without anosmia,615266
SRD5A3166.90.990.99Congenital disorder of glycosylation, type Iq,612379
SRD5A3166.90.990.99Kahrizi syndrome,612713
ST14171.80.990.98Ichthyosis, congenital, autosomal recessive 11602400
ST3GAL5138.40.950.94Amish infantile epilepsy syndrome,609056
STAMBP130.10.990.96Microcephaly-capillary malformation syndrome,614261
STAT31410.990.98Autoimmune disease, multisystem, infantile-onset,615952
STAT31410.990.98Hyper-IgE recurrent infection syndrome,147060
STAT5B141.70.990.96Growth hormone insensitivity with immunodeficiency,245590
STAT5B141.70.990.96Leukemia, acute promyelocytic, somatic,102578
STIM1143.10.990.96Immunodeficiency 10612783
STIM1143.10.990.96Myopathy, tubular aggregate, 1160565
STIM1143.10.990.96Stormorken syndrome,185070
STK11130.10.990.94Melanoma, malignant, somatic185070
STK11130.10.990.94Pancreatic cancer,260350
STK11130.10.990.94Peutz-Jeghers syndrome,175200
STK11130.10.990.94Testicular tumor, somatic,273300
STS111.80.990.96Ichthyosis, X-linked,308100
SUFU149.50.990.97Basal cell nevus syndrome,109400
SUFU149.50.990.97Medulloblastoma, desmoplastic,155255
SUFU149.50.990.97{Meningioma, familial, susceptibility to},607174
SUMF1138.40.970.92Multiple sulfatase deficiency,272200
TALDO1143.210.99Transaldolase deficiency,606003
TAT141.911Tyrosinemia, type II,276600
TBC1D24178.810.99Deafness , autosomal recessive 86614617
TBC1D24178.810.99Deafness, autosomal dominant 65616044
TBC1D24178.810.99DOOR syndrome,220500
TBC1D24178.810.99Epileptic encephalopathy, early infantile, 16615338
TBC1D24178.810.99Myoclonic epilepsy, infantile, familial,605021
TBX397.90.990.96Ulnar-mammary syndrome,181450
TCIRG1125.60.950.88Osteopetrosis, autosomal recessive 1259700
TEK214.710.99Venous malformations, multiple cutaneous and mucosal,600195
TEK214.710.99TERC NC NC NC Dyskeratosis congenita, autosomal dominant 1127550
TEK214.710.99{Aplastic anemia},614743
TEK214.710.99{Pulmonary fibrosis, idiopathic, susceptibility to},614743
TERT148.30.960.91{Dyskeratosis congenita, autosomal dominant 2},613989
TERT148.30.960.91{Dyskeratosis congenita, autosomal recessive 4},613989
TERT148.30.960.91{Leukemia, acute myeloid},601626
TERT148.30.960.91{Melanoma, cutaneous malignant, 9},615134
TERT148.30.960.91{Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1},614742
TFAP2A13810.99Branchiooculofacial syndrome,113620
TGFB2182.210.99Loeys-Dietz syndrome 4614816
TGFBR1213.80.950.93Loeys-Dietz syndrome 1609192
TGFBR1213.80.950.93{Multiple self-healing squamous epithelioma, susceptibility to},132800
TGFBR2215.311Colorectal cancer, hereditary nonpolyposis, type 6614331
TGFBR2215.311Esophageal cancer, somatic,133239
TGFBR2215.311Loeys-Dietz syndrome 2610168
TGM1187.811Ichthyosis, congenital, autosomal recessive 1242300
TGM5187.810.99Peeling skin syndrome 2609796
TINF2196.810.99Dyskeratosis congenita, autosomal dominant 3613990
TINF2196.810.99Revesz syndrome,268130
TMC6880.990.96Epidermodysplasia verruciformis,226400
TMC81190.970.92Epidermodysplasia verruciformis,226400
TMEM165122.20.980.96Congenital disorder of glycosylation, type IIk,614727
TMEM173102.70.990.96STING-associated vasculopathy, infantile-onset,615934
TNFRSF11A144.80.930.91Osteolysis, familial expansile,174810
TNFRSF11A144.80.930.91Osteopetrosis, autosomal recessive 7612301
TNFRSF11A144.80.930.91{Paget disease of bone 2 early-onset},602080
TNFRSF11B274.111Paget disease of bone 5 juvenile-onset,239000
TNFRSF1A104.10.910.88Periodic fever, familial,142680
TNFRSF1A104.10.910.88{Multiple sclerosis, susceptibility to, 5},614810
TNFSF11184.10.990.94Osteopetrosis, autosomal recessive 2259710
TNXB17.80.590.32Ehlers-Danlos syndrome due to tenascin X deficiency,606408
TNXB17.80.590.32Vesicoureteral reflux 8615963
TP63217.611ADULT syndrome,103285
TP63217.611Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3604292
TP63217.611Hay-Wells syndrome,106260
TP63217.611Limb-mammary syndrome,603543
TP63217.611Orofacial cleft 8129400
TP63217.611Rapp-Hodgkin syndrome,129400
TP63217.611Split-hand/foot malformation 4605289
TPCN2178.60.990.97[Skin/hair/eye pigmentation 10 blond/brown hair],612267
TREX1272.211Aicardi-Goutieres syndrome 1 dominant and recessive,225750
TREX1272.211Chilblain lupus,610448
TREX1272.211Vasculopathy, retinal, with cerebral leukodystrophy,192315
TREX1272.211{Systemic lupus erythematosus, susceptibility to},152700
TRIM32152.911Muscular dystrophy, limb-girdle, type 2H,254110
TRIM32152.911?Bardet-Biedl syndrome 11615988
TRIM37131.20.990.98Mulibrey nanism,253250
TRPV3184.210.99Olmsted syndrome,614594
TRPV3184.210.99?Palmoplantar keratoderma, nonepidermolytic, focal 2616400
TSC1149.60.990.98Lymphangioleiomyomatosis,606690
TSC1149.60.990.98Tuberous sclerosis-1,191100
TSC2144.50.990.98Lymphangioleiomyomatosis, somatic,606690
TSC2144.50.990.98Tuberous sclerosis-2,613254
TSPEAR154.410.99Deafness, autosomal recessive 98614861
TSPEAR154.410.99Ectodermal dysplasia (Peled et al, -2016 PLOS Genetics online)614861
TTC371390.990.97Trichohepatoenteric syndrome 1222470
TTI2114.20.990.98Mental retardation, autosomal recessive 39615541
TWIST21340.990.96Ablepharon-macrostomia syndrome,200110
TWIST21340.990.96Barber-Say syndrome,209885
TWIST21340.990.96Focal facial dermal dysplasia 3 Setleis type,227260
TYR205.610.99Albinism, oculocutaneous, type IA,203100
TYR205.610.99Albinism, oculocutaneous, type IB,606952
TYR205.610.99Waardenburg syndrome/albinism, digenic,103470
TYR205.610.99[Skin/hair/eye pigmentation 3 blue/green eyes],601800
TYR205.610.99[Skin/hair/eye pigmentation 3 light/dark/freckling skin],601800
TYR205.610.99{Melanoma, cutaneous malignant, susceptibility to, 8},601800
TYRP1209.711Albinism, oculocutaneous, type III,203290
TYRP1209.711[Skin/hair/eye pigmentation, variation in, 11 (Melanesian blond hair)],612271
UBE2A115.30.990.95Mental retardation, X-linked syndromic, Nascimento-type,300860
UBR1144.40.980.95Johanson-Blizzard syndrome,243800
UROD178.210.99Porphyria cutanea tarda,176100
UROD178.210.99Porphyria, hepatoerythropoietic,176100
UROS119.911Porphyria, congenital erythropoietic,263700
USB1144.50.990.97Poikiloderma with neutropenia,604173
UVSSA134.40.990.99UV-sensitive syndrome 3614640
VDR134.40.990.96Rickets, vitamin D-resistant, type IIA,277440
VDR134.40.990.96?Osteoporosis, involutional,166710
VEGFC1810.990.99Lymphedema, hereditary, ID,615907
VHL120.50.950.88Erythrocytosis, familial, 2263400
VHL120.50.950.88Hemangioblastoma, cerebellar, somatic263400
VHL120.50.950.88Pheochromocytoma,171300
VHL120.50.950.88Renal cell carcinoma, somatic,144700
VHL120.50.950.88von Hippel-Lindau syndrome,193300
VPS13B156.80.980.96Cohen syndrome,216550
WAS68.70.870.78Neutropenia, severe congenital, X-linked,300299
WAS68.70.870.78Thrombocytopenia, X-linked,313900
WAS68.70.870.78Thrombocytopenia, X-linked, intermittent,313900
WAS68.70.870.78Wiskott-Aldrich syndrome,301000
WDR19153.50.990.97Nephronophthisis 13614377
WDR19153.50.990.97Senior-Loken syndrome 8616307
WDR19153.50.990.97?Cranioectodermal dysplasia 4614378
WDR19153.50.990.97?Short-rib thoracic dysplasia 5 with or without polydactyly,614376
WDR35167.20.980.96Cranioectodermal dysplasia 2613610
WDR35167.20.980.96Short-rib thoracic dysplasia 7 with or without polydactyly,614091
WDR72161.70.990.97Amelogenesis imperfecta, type IIA3,613211
WIPF1940.990.98?Wiskott-Aldrich syndrome 2614493
WNT10A114.70.990.98Odontoonychodermal dysplasia,257980
WNT10A114.70.990.98Schopf-Schulz-Passarge syndrome,224750
WNT10A114.70.990.98Tooth agenesis, selective, 4150400
WNT10B142.710.99Split-hand/foot malformation 6225300
WNT5A175.211Robinow syndrome, autosomal dominant 1180700
WNT7A226.411Fuhrmann syndrome,228930
WNT7A226.411Ulna and fibula, absence of, with severe limb deficiency,276820
WRAP53164.311Dyskeratosis congenita, autosomal recessive 3613988
WRN143.30.970.93Werner syndrome,277700
XPA58.30.950.84Xeroderma pigmentosum, group A,278700
XPC163.910.99Xeroderma pigmentosum, group C,278720
XYLT1148.30.930.88Desbuquois dysplasia 2615777
XYLT1148.30.930.88{Pseudoxanthoma elasticum, modifier of severity of},264800
XYLT2152.30.980.95Spondyloocular syndrome,605822
XYLT2152.30.980.95{Pseudoxanthoma elasticum, modifier of severity of},264800
ZBTB20248.611Primrose syndrome,259050
ZMPSTE24134.40.990.98Mandibuloacral dysplasia with type B lipodystrophy,608612
ZMPSTE24134.40.990.98Restrictive dermopathy, lethal,275210
ZNF46991.30.990.96Brittle cornea syndrome 1229200
ZNF592140.610.99Spinocerebellar ataxia, autosomal recessive 5251300
ZNF750161.711Seborrhea-like dermatitis with psoriasiform elements,610227
HSD17B1017-beta-hydroxysteroid dehydrogenase X deficiency300438
ACADSB2-methylbutyrylglycinuria610006
MCCC13-Methylcrotonyl-CoA carboxylase 1 deficiency210200
MCCC23-Methylcrotonyl-CoA carboxylase 2 deficiency210210
FGD1Aarskog-Scott syndrome; Mental retardation, X-linked 16305400
SLC26A2Achondrogenesis Ib600972
CNGB3Achromatopsia-3262300
ACADMAcyl-CoA dehydrogenase, medium chain, deficiency of201450
ACADSAcyl-CoA dehydrogenase, short-chain, deficiency of201470
CYP17A1Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency202110
CYP21A2Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency201910
ABCD1Adrenoleukodystrophy300100
HGDAlkaptonuria203500
SLC16A2Allan-Herndon-Dudley syndrome300523
ACAT1Alpha-methylacetoacetic aciduria203750
ATRXAlpha-thalassemia/mental retardation syndrome301040
COL4A4Alport syndrome, autosomal recessive203780
RMRPAnauxetic dysplasia607095
ARAndrogen insensitivity300068
ARG1Argininemia207800
ASLArgininosuccinic aciduria207900
PRPS1Arts syndrome301835
AGAAspartylglucosaminuria208400
TTPAAtaxia with isolated vitamin E deficiency277460
ATMAtaxia-telangiectasia208900
OTOFAuditory neuropathy, autosomal recessive, 1601071
AIREAutoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia240300
BBS1Bardet-Biedl syndrome 1209900
BBS10Bardet-Biedl syndrome 10615987
CEP290Bardet-Biedl syndrome 14; Joubert syndrome 5; Meckel syndrome 4; Senior-Loken syndrome 6615991; 610188; 611134; 610189
BBS2Bardet-Biedl syndrome 2615981
BSNDBartter syndrome, type 4a602522
DMDDuchenne muscular dystrophy; Becker muscular dystrophy310200; 300376
BTDBiotinidase deficiency253260
BCS1LBjornstad syndrome262000
ASPACanavan disease271900
CPS1Carbamoylphosphate synthetase I deficiency237300
SLC22A5Carnitine deficiency, systemic primary212140
SLC25A20Carnitine-acylcarnitine translocase deficiency212138
CYP27A1Cerebrotendinous xanthomatosis213700
PPT1Ceroid lipofuscinosis, neuronal, 1256730
CTSDCeroid lipofuscinosis, neuronal, 10610127
TPP1Ceroid lipofuscinosis, neuronal, 2204500
CLN3Ceroid lipofuscinosis, neuronal, 3204200
CLN5Ceroid lipofuscinosis, neuronal, 5256731
CLN6Ceroid lipofuscinosis, neuronal, 6601780
MFSD8Ceroid lipofuscinosis, neuronal, 7610951
CLN8Ceroid lipofuscinosis, neuronal, 8600143
MTMR2Charcot-Marie-Tooth disease, type 4B1601382
SH3TC2Charcot-Marie-Tooth disease, type 4C601596
NDRG1Charcot-Marie-Tooth disease, type 4D601455
GDAP1Charcot-Marie-Tooth Neuropathy Type 4A214400
ABCB11Cholestasis, benign recurrent intrahepatic, 2601847
ARSFChondrodysplasia punctata, X-linked recessive302950
ARSEChondrodysplasia punctata, X-linked recessive302950
ASS1Citrullinemia215700
SLC25A13Citrullinemia, adult-onset type II; type II, neonatal-onset603471; 605814
RPS6KA3Coffin-Lowry syndrome303600
ACSF3Combined malonic and methylmalonic acidemia614265
ABCA4Cone-rod dystrophy 3604116
AIPL1Cone-rod dystrophy, 604393 (Congenital Leber Amaurosis, 4)604393
RPGRCone-rod dystrophy, X-linked, 1304020
PMM2Congenital disorder of glycosylation, type Ia212065
SLC4A11Corneal dystrophy, Fuchs endothelial, 4613268
CPT1ACPT deficiency, hepatic, type IA255120
CPT2CPT II deficiency, lethal neonatal608836
CTHCystathioninuria219500
CFTRCystic Fibrosis; Congenital bilateral absence of vas deferens219700; 277180
CTNSCystinosis, atypical nephropathic219800
SLC3A1Cystinuria220100
SLC7A9Cystinuria220100
CDH23Deafness, autosomal recessive 12601386
USH1CDeafness, autosomal recessive 18A602092
GJB2Deafness, autosoma recessive 1A; DFNB1A220290
PCDH15Deafness, autosomal recessive 23609533
SLC26A4Deafness, autosomal recessive 4, with enlarged vestibular aqueduct600791
GJB3Deafness, digenic, GJB2/GJB3220290
POU3F4Deafness, X-linked 2304400
OCRLDent disease 2300555
DLDDihydrolipoamide dehydrogenase deficiency246900
F2Dysprothrombinemia613679
COL7A1EBD inversa226600
PLOD1Ehlers-Danlos syndrome, type VI225400
EVC2Ellis-van Creveld syndrome225500
SERPINA1Emphysema due to AAT deficiency613490
LAMB3Epidermolysis bullosa, junctional, Herlitz type; non-Herlitz type226700; 226650
LAMC2Epidermolysis bullosa, junctional, Herlitz type; non-Herlitz type226700; 226650
SYN1Epilepsy, X-linked, with variable learning disabilities and behavior disorders300491
ARXEpileptic encephalopathy, early infantile, 1308350
ETHE1Ethylmalonic encephalopathy602473
GLAFabry disease301500
F5Factor V deficiency227400
F11Factor XI deficiency, autosomal dominant & recessive612416
MEFVFamilial Mediterranean fever, AR249100
FANCAFanconi anemia227650
FANCCFanconi anemia, complementation group C227645
G6PDFavism134700
SLC46A1Folate malabsorption, hereditary229050
FMR1Fragile X syndrome300624
FXNFriedreich ataxia with retained reflexes229300
ALDOBFructose intolerance229600
FHFumarase deficiency606812
GALK1Galactokinase deficiency with cataracts230200
GALEGalactose epimerase deficiency230350
GALTGalactosemia230400
GBAGaucher disease, perinatal lethal608013
FTCDGlutamate formiminotransferase deficiency229100
ETFAGlutaric acidemia IIA231680
ETFBGlutaric acidemia IIB231680
ETFDHGlutaric acidemia IIC231680
GCDHGlutaricaciduria, type I231670
GLDCGlycine encephalopathy605899
AMTGlycine encephalopathy605899
GNMTGlycine N-methyltransferase deficiency606664
G6PCGlycogen storage disease Ia232200
SLC37A4Glycogen storage disease Ib232220
GAAGlycogen storage disease II / Pompe Disease232300
AGLGlycogen storage disease IIIa232400
GBE1Glycogen storage disease IV232500
GLB1GM1-gangliosidosis, types I, II and III230500; 230600; 230650
NR2E3Goldmann-Favre syndrome268100
PANK2HARP syndrome607236
SLC6A19Hartnup disorder234500
PEX6Heimler syndrome, type 2616617
TFR2Hemochromatosis, type 3604250
HFE2Hemochromatosis: Type 2A; HFE2 Related602390
F8Hemophilia A306700
F9Hemophilia B306900
HALHistidinemia235800
HMGCLHMG-CoA lyase deficiency246450
HLCSHolocarboxylase synthetase deficiency253270
MTHFRHomocystinuria due to MTHFR deficiency236250
MTRRHomocystinuria-megaloblastic anemia, cbl E type236270
CBSHomocystinuria, B6-responsive and nonresponsive types236200
MMADHCHomocystinuria, cblD type, variant 1 / Methylmalonic aciduria and homocystinuria, cblD type / Methylmalonic aciduria, cblD type, variant 2277410
MVKHyper-IgD syndrome; Mevalonic aciduria260920; 610377
LDLRHypercholesterolemia, familial143890
LDLRAP1Hypercholesterolemia, familial, autosomal recessive603813
KCNJ11Hyperinsulinemic hypoglycemia, familial, Type 2601820
ADKHypermethioninemia due to adenosine kinase deficiency614300
AHCYHypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase613752
MAT1AHypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency250850
AGXTHyperoxaluria, primary, type 1259900
GRHPRHyperoxaluria, primary, type II260000
HOGA1Hyperoxaluria, primary, type III613616
PTSHyperphenylalaninemia, BH4-deficient, A261640
QDPRHyperphenylalaninemia, BH4-deficient, C261630
PCBD1Hyperphenylalaninemia, BH4-deficient, D264070
ALDH4A1Hyperprolinemia, type II239510
TSHRHyperthyroidism, familial gestational; Hypothyroidism, congenital, nongoitrous, 1603373; 275200
GNRHRHypogonadotropic hypogonadism 7 without anosmia146110
TSHBHypothryoidism, congenital, nongoitrous 4275100
PAX8Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia218700
TGM1Ichthyosis, congenital, autosomal recessive 1242300
CD40LGImmunodeficiency, X-linked, with hyper-IgM308230
IVDIsovaleric acidemia243500
TMEM216Joubert syndrome 2608091
AHI1Joubert syndrome 3608629
NPHP1Joubert syndrome 4609583
ARL13BJoubert syndrome 8612291
GALCKrabbe disease245200
HADHALCHAD deficiency609016
GUCY2DLeber congenital amaurosis204000
RDH12Leber congenital amaurosis 13612712
RPE65Leber congenital amaurosis 2204100
CRB1Leber congenital amaurosis 8613835
SURF1Leigh syndrome, due to COX deficiency256000
LRPPRCLeigh syndrome, French-Canadian type220111
DYSFlimb-girdle muscular dystrophy type 2B253601
STARLipoid adrenal hyperplasia201710
DCXLissencephaly, X-linked300067
CHST6Macular corneal dystrophy217800
MLYCDMalonyl-CoA decarboxylase deficiency248360
MAN2B1Mannosidosis, alpha-, types I and II248500
BCKDHAMaple syrup urine disease, type Ia248600
BCKDHBMaple syrup urine disease, type Ib248600
DBTMaple syrup urine disease, type II248600
L1CAMMASA syndrome / CRASH syndrome303350
PYGMMcArdle disease232600
MKS1Meckel syndrome 1249000
CASKMental retardation and microcephaly with pontine and cerebellar hypoplasia300749
PHF8Mental retardation syndrome, X-linked, Siderius type300263
OPHN1Mental retardation, X-linked300486
IQSEC2Mental retardation, X-linked 1/78309530
THOC2Mental retardation, X-linked 12/35300957
IL1RAPL1Mental retardation, X-linked 21/34300143
PAK3Mental retardation, X-linked 30/47300558
GDI1Mental retardation, X-linked 41300849
TSPAN7Mental retardation, X-linked 58300210
ACSL4Mental retardation, X-linked 63300387
FTSJ1Mental retardation, X-linked 9309549
DLG3Mental retardation, X-linked 90300850
GRIA3Mental retardation, X-linked 94300699
ZNF711Mental retardation, X-linked 97300803
USP9XMental retardation, X-linked 99300919
AP1S2Mental retardation, X-linked syndromic 5304340
ZDHHC9Mental retardation, X-linked syndromic, Raymond type300799
HUWE1Mental retardation, X-linked syndromic, Turner type300706
NLGN4XMental retardation, X-linked, Asperger syndrome susceptibility, X-linked300427
AFF2Mental retardation, X-linked, FRAXE type309548
MECP2Mental retardation, X-linked, syndromic 13300055
UPF3BMental retardation, X-linked, syndromic 14300676
CUL4BMental retardation, X-linked, syndromic 15300354
KDM5CMental retardation, X-linked, syndromic, Claes-Jensen type300534
ARSAMetachromatic leukodystrophy250100
MMACHCMethylmalonic aciduria and homocystinuria, cblC type277400
LMBRD1Methylmalonic aciduria and homocystinuria, cblF type277380
ABCD4Methylmalonic aciduria and homocystinuria, cblJ type614857
MUTMethylmalonic aciduria, mut(0) type251000
MMAAMethylmalonic aciduria, vitamin B12-responsive251100
MMABMethylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type251110
MCEEMethylmalonyl-CoA epimerase deficiency251120
RAXMicrophthalmia, isolated 3611038
GNPTABMucolipidosis II and III, alpha/beta252500; 252600
MCOLN1Mucolipidosis IV252650
SGSHMucopolysaccharidisis type IIIA (Sanfilippo A)252900
IDUAMucopolysaccharidosis Ih607014
IDSMucopolysaccharidosis II309900
GALNSMucopolysaccharidosis IVA253000
NAGLUMucopolysaccharidosis type IIIB (Sanfilippo B)252920
HGSNATMucopolysaccharidosis type IIIC (Sanfilippo C)252930
GNSMucopolysaccharidosis type IIID252940
ARSBMucopolysaccharidosis type VI (Maroteaux-Lamy)253200
POMT1Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1236670
POMT2Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2613150
POMGNT1Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3253280
FKRPMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5613153
CAPN3Muscular dystrophy, limb-girdle, type 2A253600
SGCAMuscular dystrophy, limb-girdle, type 2D608099
SGCBMuscular dystrophy, limb-girdle, type 2E604286
CLCN1Myotonia congenita, dominant; recessive160800; 255700
NEBNemaline myopathy 2, autosomal recessive256030
NPHS1Nephrotic syndrome, type 1256300
HAX1Neutropenia, severe congenital 3, autosomal recessive610738
SMPD1Niemann-Pick disease, type A257200
NPC1Niemann-Pick disease, type C1257220
NPC2Niemann-pick disease, type C2607625
NBNNijmegen Breakage Syndrome (Ataxia telangectasia, type 1)251260
NDPNorrie disease310600
GPR143Nystagmus 6, congenital, X-linked300814
OTCOrnithine transcarbamylase deficiency311250
P3H1Osteogenesis imperfecta, type VIII610915
PLP1Pelizaeus-Merzbacher disease312080
ACOX1Peroxisomal acyl-CoA oxidase deficiency264470
PEX1Peroxisome biogenesis disorder 1A (Zellweger)214100
PEX10Peroxisome biogenesis disorder 6A (Zellweger)614870
PEX7Peroxisome biogenesis disorder 9B; Rhizomelic chondroplasia punctata, type I614879; 215100
PAHPhenylketonuria261600
PGK1Phosphoglycerate kinase 1 deficiency300653
PROP1Pituitary hormone deficiency, combined, 2262600
PKHD1Polycystic kidney and hepatic disease263200
DNAH5Primary ciliary dyskinesia608644
PCCAPropionic acidemia606054
PCCBPropionic acidemia606054
PCPyruvate carboxylase deficiency266150
PDHBPyruvate dehydrogenase E1-beta deficiency614111
PQBP1Renpenning syndrome309500
RP2Retinitis pigmentosa 2312600
EYSRetinitis pigmentosa 25602772
CERKLRetinitis pigmentosa 26608380
USH2ARetinitis pigmentosa 39613809
PDE6ARetinitis pigmentosa 43613810
CNGB1Retinitis pigmentosa 45613767
IDH3BRetinitis pigmentosa 46612572
CNGA1Retinitis pigmentosa 49613756
DHDDSRetinitis pigmentosa 59613861
RS1Retinoschisis312700
AGPSRhizomelic chondrodysplasia punctata, type 3600121
HEXBSandhoff disease, infantile, juvenile, and adult forms268800
JAK3SCID, autosomal recessive, T-negative/B-positive type600802
THSegawa syndrome, recessive605407
ADASevere combined immunodeficiency due to ADA deficiency102700
IL2RGSevere combined immunodeficiency, X-linked300400
DHCR7Smith-Lemli-Opitz syndrome270400
SACSSpastic ataxia, Charlevoix-Saguenay type270550
SPG11Spastic paraplegia 11, autosomal recessive604360
SPG7Spastic paraplegia 7, autosomal recessive607259
SMN1Spinal muscular atrophy, type I253300
HEXATay-Sachs; GM2-gangliosidosis, several forms272800
HBBThalassemia, beta613985
HBA1Thalassemias, alpha-604131
HBA2Thalassemias, alpha-604131
MPLThrombocytopenia, congenital amegakaryocytic604498
DUOX2Thryoid dyshormonogenesis 6607200
SLC5A5Thyroid dyshormonogenesis 1274400
TPOThyroid dyshormonogenesis 2A274500
TGThyroid dyshormonogenesis 3274700
IYDThyroid dyshormonogenesis 4274800
DUOXA2Thyroid dyshormonogenesis 5274900
THRBThyroid hormone resistance274700
POLR1CTreacher Collins syndrome 3248390
HADHBTrifunctional protein deficiency609015
FAHTyrosinemia, type I276700
TATTyrosinemia, type II276600
MYO7AUsher syndrome, type 1B; Deafness, autosomal dominant 11276900; 601317
USH1GUsher syndrome, type 1G606943
WHRNUsher syndrome, type 2D / Deafness, autosomal recessive 31611383
CLRN1Usher syndrome, type 3A276902
CASQ2Ventricular tachycardia, catecholaminergic polymorphic, 2611938
TRDNVentricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness615441
ACADVLVLCAD deficiency201475
FKTNWalker-Warburg syndrome, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4253800
ATP7BWilson disease277900
LIPAWolman disease (lysosomal acid lipase deficiency)278000
BRWD3X-linked mental retardation (XLMR) associated with macrocephaly300659
APCFamilial Poliposis of the colon175100
ATMBreast cancer, susceptibility to114480
BARD1Breast cancer, susceptibility to114480
BMPR1AJuvenile polyposis syndrome, infantile form174900
BRCA1Breast-ovarian familial cancer, suspectibility to, 1604370
BRCA1Pancreatic cancer, susceptibility to, 4614320
BRCA2Breast-ovarian familial cancer, suspectibility to, 2612555
BRIP1Breast cancer, early-onset114480
CDH1Gastric cancer, familial diffuse, with or without cleft lip and/or palate137215
CDH1Breast cancer, lobular, susceptibility to114480
CDH1Prostate cancer, susceptibility to176807
CDK4{Melanoma, cutaneous malignant, 3}609048
CDKN2AMelanoma and neural system tumor syndrome155755
CDKN2APancreatic cancer/melanoma syndrome606719
CDKN2AMelanoma, cutaneous malignant, 2, susceptibility to155601
CHEK2Li-Fraumeni syndrome609265
CHEK2{Breast cancer, susceptibility to}114480
CHEK2{Prostate cancer, familial, susceptibility to}176807
CHEK2{Breast and colorrectal cancer, susceptibility to}
EPCAMColorectal cancer, hereditary nonpolyposis, type 8613244
FHLeiomyomatosis and renal cell cancer150800
FLCNColorectal cancer, somatic114500
FLCNRenal carcinoma, chromophobe, somatic144700
MAX{Pheochromocytoma, susceptibility to}171300
MEN1Multiple endocrine neoplasia 1131100
METRenal cell carcinoma, papillary, 1, familial and somatic605074
MITF{Melanoma, cutaneous malignant, susceptibility to, 8}614456
MLH1Colorectal cancer, hereditary nonpolyposis, type 2609310
MRE11AAtaxia-telangiectasia-like disorder604391
MSH2Colorectal cancer, hereditary nonpolyposis, type 1; Lynch syndrome, 2120435
MSH6Colorectal cancer, hereditary nonpolyposis, type 5614350
MSH6Endometrial cancer, familial608089
MUTYHAdenomas, multiple colorectal608456
NBNNijmegen breakage syndrome251260
NF1Neurofibromatosis, type 1162200
PALB2Breast cancer, susceptibility to}114480
PALB2Pancreatic cancer, susceptibility to, 3613348
PMS2Colorectal cancer, hereditary nonpolyposis, type 4614337
POLD1Colorectal cancer, susceptibility to, 10612591
POLEColorectal cancer, susceptibility to, 12615083
PTENGlioma susceptibility 2613028
PTENMeningioma607174
RAD50Nijmegen breakage syndrome-like disorder613078
RAD51CBreast-ovarian cancer, familial, susceptibility to, 3613399
RAD51DBreast-ovarian cancer, familial, susceptibility to, 4614291
RETMedullary thyroid carcinoma155240
RETMultiple endocrine neoplasia IIA171400
RETMultiple endocrine neoplasia IIB162300
RETPheochromocytoma171300
SDHAF2Paragangliomas 2601650
SDHBCowden syndrome 2612359
SDHBPheochromocytoma171300
SDHBParagangliomas 4115310
SDHCParagangliomas 3605373
SDHDCarcinoid tumors, intestinal114900
SDHDParagangliomas 1, with or without deafness168000
SDHDPheochromocytoma171300
SDHDCowden syndrome 3615106
SMAD4Polyposis, juvenile intestinal174900
SMAD4Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome175050
STK11Peutz-Jeghers syndrome175200
STK11Pancreatic cancer260350
TMEM127Pheochromocytoma, susceptibility to171300
TP53Breast cancer114480
TP53Colorectal cancer114500
TP53Li-Fraumeni syndrome151623
TP53Pancreatic cancer260350
TP53Basal cell carcinoma, 7614740
TP53Glioma susceptibility 1137800
TSC1Tuberous sclerosis, type 1191100
TSC2Tuberous scleroris, type 2613254
VHLPheochromocytoma171300
VHLRenal cell carcinoma144700
VHLvon Hippel-Lindau syndrome193300
APCFamilial Poliposis of the colon175100
ATMBreast cancer, susceptibility to114480
BARD1Breast cancer, susceptibility to114480
BMPR1AJuvenile polyposis syndrome, infantile form
BRCA1Breast-ovarian familial cancer, suspectibility to, 1604370
BRCA1Pancreatic cancer, susceptibility to, 4614320
BRCA2Breast-ovarian familial cancer, suspectibility to, 2612555
BRIP1Breast cancer, early-onset114480
CDH1Breast cancer, lobular, susceptibility to114480
CDK4{Melanoma, cutaneous malignant, 3}609048
CDKN2AMelanoma and neural system tumor syndrome155755
CDKN2APancreatic cancer/melanoma syndrome606719
CDKN2AMelanoma, cutaneous malignant, 2, susceptibility to155601
CHEK2Li-Fraumeni syndrome609265
CHEK2{Breast cancer, susceptibility to}114480
CHEK2{Prostate cancer, familial, susceptibility to}176807
CHEK2{Breast and colorrectal cancer, susceptibility to}
EPCAMColorectal cancer, hereditary nonpolyposis, type 8613244
MLH1Colorectal cancer, hereditary nonpolyposis, type 2609310
MRE11AAtaxia-telangiectasia-like disorder604391
MSH2Colorectal cancer, hereditary nonpolyposis, type 1; Lynch syndrome, 2120435
MSH6Colorectal cancer, hereditary nonpolyposis, type 5614350
MSH6Endometrial cancer, familial608089
MUTYHAdenomas, multiple colorectal608456
NBNNijmegen breakage syndrome251260
NF1Neurofibromatosis, type 1162200
PALB2Breast cancer, susceptibility to}114480
PALB2Pancreatic cancer, susceptibility to, 3613348
PMS2Colorectal cancer, hereditary nonpolyposis, type 4614337
POLD1Colorectal cancer, susceptibility to, 10612591
POLEColorectal cancer, susceptibility to, 12615083
PTEN
RAD50Nijmegen breakage syndrome-like disorder613078
RAD51CBreast-ovarian cancer, familial, susceptibility to, 3613399
RAD51DBreast-ovarian cancer, familial, susceptibility to, 4614291
SMAD4Polyposis, juvenile intestinal174900
STK11Peutz-Jeghers syndrome175200
TP53Li-Fraumeni syndrome151623
TP53Colorectal cancer114500
TP53Li-Fraumeni syndrome151623
TP53Pancreatic cancer260350
TP53Basal cell carcinoma, 7614740
TP53Glioma susceptibility 1137800
ATMBreast cancer, susceptibility to114480
BRCA1Breast-ovarian familial cancer, suspectibility to, 1604370
BRCA2Breast-ovarian familial cancer, suspectibility to, 2612555
CDH1Breast cancer, lobular, susceptibility to114480
PALB2Breast cancer, susceptibility to}114480
PTEN
STK11Peutz-Jeghers syndrome175200
TP53Li-Fraumeni syndrome151623
BARD1Breast cancer, susceptibility to114480
BRCA1Breast-ovarian familial cancer, suspectibility to, 1604370
BRCA2Breast-ovarian familial cancer, suspectibility to, 2612555
BRIP1Breast cancer, early-onset114480
CDH1Breast cancer, lobular, susceptibility to114480
CHEK2{Breast cancer, susceptibility to}114480
CHEK2{Breast and colorrectal cancer, susceptibility to}
EPCAMBreast-ovarian familial cancer, suspectibility to,167000
MLH1Ovarian cancer167000
MRE11AAtaxia-telangiectasia-like disorder604391
MSH2Endometrial cancer; Lynch syndrome608089
MSH6Endometrial cancer, familial608089
NBNNijmegen breakage syndrome251260
NF1Neurofibromatosis, type 1162200
PALB2Breast cancer, susceptibility to}114480
PMS2Lynch Syndrome120435
PTEN
RAD50Nijmegen breakage syndrome-like disorder613078
RAD51CBreast-ovarian cancer, familial, susceptibility to, 3613399
RAD51DBreast-ovarian cancer, familial, susceptibility to, 4614291
STK11Peutz-Jeghers syndrome175200
TP53Li-Fraumeni syndrome151623
BMPR1AJuvenile polyposis syndrome, infantile form
CDH1Gastric cancer, familial diffuse, with or without cleft lip and/or palate137215
CHEK2{Breast and colorrectal cancer, susceptibility to}
EPCAMColorectal cancer, hereditary nonpolyposis, type 8613244
GREM1Polyposis syndrome, hereditary mixed, 1601228
MLH1Colorectal cancer, hereditary nonpolyposis, type 2609310
MSH2Colorectal cancer, hereditary nonpolyposis, type 1; Lynch syndrome, 2120435
MSH6Colorectal cancer, hereditary nonpolyposis, type 5614350
MUTYHAdenomas, multiple colorectal608456
PMS2Colorectal cancer, hereditary nonpolyposis, type 4614337
POLD1Colorectal cancer, susceptibility to, 10612591
POLEColorectal cancer, susceptibility to, 12615083
PTEN
SMAD4Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome175050
STK11Peutz-Jeghers syndrome175200
TP53Li-Fraumeni syndrome151623
PAHPhenylketonuria261600
HGDAlkaptonuria203500
ARG1Arginase deficiency207800
ASLArgininosuccinate Lyase Deficiency207900
ASS1Citrullinemia215700
CTHCystathioninuria219500
SLC3A1Cystinuria220100
SLC7A9Cystinuria220100
HALHistidinemia235800
CBSHomocystinuria B6-responsive and nonresponsive types236200
AHCYHypermethioninemia613752
GNMTHypermethioninemia606664
MAT1AHypermethioninemia250850
ALDH4A1Hyperprolinemia239510
PRODHHyperprolinemia239500
BCKDHAMaple syrup urine disease type Ia248600
BCKDHBMaple syrup urine disease type Ib248600
DBTMaple syrup urine disease type II248600
DLDMaple syrup urine disease type III248600
FAHTyrosinemia type I276700
BTDBiotinidase deficiency253260
CFTRCystic Fibrosis219700
GJB2Deafness Autosomal Dominant 3A601544
SLC26A4Pendred syndrome274600
ACADMAcyl-CoA dehydrogenase, medium chain deficiency of201450
ETFAGlutaric acidemia IIA231680
ETFBGlutaric acidemia IIB231680
ETFDHGlutaric acidemia IIC231680
HADHALCHAD deficiency609016
CYP21A2Adrenal hyperplasia due to 21-hydroxylase deficiency201910
SLC22A5Carnitine deficiency, systemic primary212140
CPT1ACPT I deficiency, hepatic255120

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