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TCG ampliato, studio di piú di 3000 malattie genetiche

TCG ampliato, studio di piú di 3000 malattie genetiche

Disponiamo delle ultime tecnologie per studiare ed evitare le principali malattie ereditarie                                                                                                                      

Gli studi genetici preconfezionali (chiamati anche dei portatori) hanno come obiettivo di evitare in una coppia la nascita di un bambino affetto da malattie recessive. Le malattie genetiche recessive si comportano in un modo tale per cui c gli individui possono essere totalmente sani, portatori o malati. Gli individui affetti sono malati e manifestano la malattia, mentre gli individui portatori non manifestano nessun sintomo però hanno un rischio elevato di trasmettere la malattia se l’altro progenitore é anch’esso portatore. Il fatto che i portatori non hanno sintomi impedisce che possano essere identificati. Analizzando unicamente i geni responsabili di queste malattie possiamo riconoscerli e stabilire il rischio di avere una discendenza malata. Lo stesso avviene con le malattie legate al sesso, dato che le donne portatrici non manifesteranno sintomi, però avrebbero un rischio elevato di discendenza di uomini malati.

Da anni si stanno realizzando, in determinate popolazioni, studi di portatori di malattie recessive come, per esempio, fibrosi cistica, talassemia, Tay-sachs, etc. Nonostante ciò, questi studi includevano una sola malattia. Negli ultimi anni si è sviluppata una tecnica di genetica e biologia molecolare (chiamata sequenza massina o NGS) che permette di analizzare centinaia di geni in un’unica prova con relazione costo-efficacia. Per questo lo studio dei portatori ha iniziato ad includere un maggior numero di geni. I progressi in questo campo si stanno producendo in maniera esponenziale in modo che recentemente sono stati sviluppati nuovi studi che permettono di analizzare migliaia di geni, inclusi tutti i geni del genoma (genoma o esoma).

L’Instituto Bernabeu guida la più recente tecnologia genetica. Test di Compatibilità Genetica (TCG)

In linea con questi progressi, l’Instituto Bernabeu ha incorporato nei suoi laboratori di biologia molecolare la tecnologia necessaria per portare a termine questi studi di centinaia o migliaia di geni. Nel 2016 sviluppo il test dei portatori più amplio che includeva 600 malattie recessive e legate ai cromosomi sessuali (TCG: test di compatibilità genetica) evitando che migliaia di coppie si esponessero al rischio di avere bambini affettati da tale malattie. Nell’attualità e grazie ai nuovi avanzi si è sviluppato un nuovo test che permette analizzare più di 3000 malattie essendo in questo momento lo studio disponibile più completo. In questo modo, si minimizza al massimo le malattie recessive e legate al sesso che possono essere trasmesse alla discendenza e mette a disposizione dei pazienti tutta la conoscenza scientifica e tecnologica disponibile.

Incluso nello studio di tutti i nostri donatori di gameti                                           

Dovuta all’importanza dell’informazione ottenuta in questi test per evitare la trasmissione di malattie genetiche, nell’Instituto Bernabeu si realizza in maniera rutinaria in tutti i nostri donatori di gameti e si consiglia in tutte quelle coppie con desiderio riproduttivo indipendentemente da se richiedono o no tecniche di riproduzione assistita.

Più di 3000 malattie recessive individuate mediante il Test di Compatibilità Genetica (TCG)

GENECHROMOSOMELOCUSDISEASEOMIM
AAASchr1212q13Achalasia-addisonianism-alacrimia syndrome231550
AARS2chr66p21.1Combined oxidative phosphorylation deficiency 8614096
AARS2chr66p21.1Leukoencephalopathy progressive with ovarian failure615889
AASSchr77q31.3Hyperlysinemia238700
ABATchr1616p13.3GABA-transaminase deficiency613163
ABCA1chr99q22-q31Tangier disease205400
ABCA12chr22q34Ichthyosis congenital autosomal recessive 4B (harlequin)242500
ABCA12chr22q34Ichthyosis congenital autosomal recessive 4A601277
ABCA2chr99q34Intellectual developmental disorder with poor growth
and with or without seizures or ataxia
618808
ABCA3chr1616p13.3Surfactant metabolism dysfunction pulmonary 3610921
ABCA4chr11p22.1Retinal dystrophy early-onset severe248200
ABCA4chr11p22.1Stargardt disease 1248200
ABCA4chr11p22.1Fundus flavimaculatus248200
ABCA4chr11p22.1Retinitis pigmentosa 19601718
ABCA5chr1717q24.2Hypertrichosis congenital generalized with gingival
hyperplasia
135400
ABCB11chr22q24Cholestasis progressive familial intrahepatic 2601847
ABCB11chr22q24Cholestasis benign recurrent intrahepatic 2605479
ABCB4chr77q21.1Gallbladder disease 1600803
ABCB4chr77q21.1Cholestasis intrahepatic of pregnancy 3614972
ABCB4chr77q21.1Cholestasis progressive familial intrahepatic 3602347
ABCB7chrXXq13.1-q13.3Anemia sideroblastic with ataxia301310
ABCC2chr1010q24Dubin-Johnson syndrome237500
ABCC6chr1616p13.1Pseudoxanthoma elasticum264800
ABCC6chr1616p13.1Arterial calcification generalized of infancy 2614473
ABCC8chr1111p15.1Diabetes mellitus permanent neonatal 3 with or
without neurologic features
618857
ABCC8chr1111p15.1Hyperinsulinemic hypoglycemia familial 1256450
ABCD1chrXXq28Adrenomyeloneuropathy adult300100
ABCD1chrXXq28Adrenoleukodystrophy300100
ABCD3chr11p22-p21Bile acid synthesis defect congenital 5616278
ABCD4chr1414q24.3Methylmalonic aciduria and homocystinuria cblJ type614857
ABCG8chr22p21Sitosterolemia 1210250
ABHD12chr2020p11.21Polyneuropathy hearing loss ataxia retinitis pigmentosa and cataract612674
ABHD5chr33p21Chanarin-Dorfman syndrome275630
ACACAchr1717q21Acetyl-CoA carboxylase deficiency613933
ACAD8chr1111q25Isobutyryl-CoA dehydrogenase deficiency611283
ACAD9chr33q26Mitochondrial complex I deficiency nuclear type 20611126
ACADMchr11p31Acyl-CoA dehydrogenase medium chain deficiency of201450
ACADSchr1212q22-qterAcyl-CoA dehydrogenase short-chain deficiency of201470
ACADSBchr1010q25-q262-methylbutyrylglycinuria610006
ACADVLchr1717p13VLCAD deficiency201475
ACANchr1515q26.1Spondyloepimetaphyseal dysplasia aggrecan type612813
ACAT1chr1111q22.3-q23.1Alpha-methylacetoacetic aciduria203750
ACBD5chr1010p12.1Retinal dystrophy with leukodystrophy618863
ACEchr1717q23Renal tubular dysgenesis267430
ACKR1chr11q23.2Blood group Duffy system110700
ACKR1chr11q23.2White blood cell count QTL611862
ACO2chr2222q13.2Infantile cerebellar-retinal degeneration614559
ACO2chr2222q13.2Optic atrophy 9616289
ACOX1chr1717q25.1Peroxisomal acyl-CoA oxidase deficiency264470
ACP2chr1111p11.2Lysosomal acid phosphatase deficiency200950
ACP5chr1919p13.3-p13.1Spondyloenchondrodysplasia with immune dysregulation607944
ACTA1chr11q42.1Myopathy actin congenital with cores161800
ACTA1chr11q42.1Nemaline myopathy 3 autosomal dominant or recessive161800
ACTA1chr11q42.1Myopathy congenital with fiber-type disproportion 1255310
ACTA1chr11q42.1Myopathy actin congenital with excess of thin myofilaments161800
ACY1chr33p21.1Aminoacylase 1 deficiency609924
ADAchr2020q13.11Adenosine deaminase deficiency partial102700
ADAchr2020q13.11Severe combined immunodeficiency due to ADA deficiency102700
ADA2chr2222q11.2Vasculitis autoinflammation immunodeficiency and hematologic defects syndrome615688
ADA2chr2222q11.2Sneddon syndrome182410
ADAM17chr22p25Inflammatory skin and bowel disease neonatal 1614328
ADAM22chr77q21Epileptic encephalopathy early infantile 61617933
ADAM9chr88p11.23Cone-rod dystrophy 9612775
ADAMTS10chr1919p13.3-p13.2Weill-Marchesani syndrome 1 recessive277600
ADAMTS13chr99q34Thrombotic thrombocytopenic purpura hereditary274150
ADAMTS17chr1515q24Weill-Marchesani 4 syndrome recessive613195
ADAMTS18chr1616q23Microcornea myopic chorioretinal atrophy and telecanthus615458
ADAMTS2chr55q23Ehlers-Danlos syndrome dermatosparaxis type225410
ADAMTSL2chr99q34.2Geleophysic dysplasia 1231050
ADAMTSL4chr11q21Ectopia lentis et pupillae225200
ADAMTSL4chr11q21Ectopia lentis isolated autosomal recessive225100
ADARchr11q21.3Dyschromatosis symmetrica hereditaria127400
ADARchr11q21.3Aicardi-Goutieres syndrome 6615010
ADARB1chr2121q22.3Neurodevelopmental disorder with hypotonia microcephaly and seizures618862
ADCY1chr77p13-p12Deafness autosomal recessive 44610154
ADCY3chr22p24-p22Obesity susceptibility to BMIQ19617885
ADCY6chr1212q12-q13Lethal congenital contracture syndrome 8616287
ADGRG1chr1616q13Polymicrogyria bilateral frontoparietal606854
ADGRV1chr55q14.3Usher syndrome type 2C605472
ADGRV1chr55q14.3Usher syndrome type 2C GPR98/PDZD7 digenic605472
ADKchr1010q11-q24Hypermethioninemia due to adenosine kinase
deficiency
614300
ADRB2chr55q32-q34Obesity susceptibility to601665
ADRB3chr88p12-p11.2Obesity susceptibility to601665
ADSLchr2222q13.1Adenylosuccinase deficiency103050
AEBP1chr77p13Ehlers-Danlos syndrome classic-like 2618000
AFF2chrXXq28Mental retardation X-linked FRAXE type309548
AFG3L2chr1818p11Spastic ataxia 5 autosomal recessive614487
AFPchr44q11-q13Alpha-fetoprotein deficiency615969
AGAchr44q32-q33Aspartylglucosaminuria208400
AGKchr77q34Sengers syndrome212350
AGKchr77q34Cataract 38 autosomal recessive614691
AGLchr11p21Glycogen storage disease IIIb232400
AGLchr11p21Glycogen storage disease IIIa232400
AGPAT2chr99q34.3Lipodystrophy congenital generalized type 1608594
AGPSchr22q31Rhizomelic chondrodysplasia punctata type 3600121
AGRNchr11pter-p32Myasthenic syndrome congenital 8 with pre- and
postsynaptic defects
615120
AGRPchr1616q22Obesity late-onset601665
AGRPchr1616q22Leanness inherited601665
AGTchr11q42-q43Renal tubular dysgenesis267430
AGTPBP1chr99q21.33Neurodegeneration childhood-onset with cerebellar atrophy618276
AGTR1chr33q21-q25Renal tubular dysgenesis267430
AGXTchr22q36-q37Hyperoxaluria primary type 1259900
AGXT2chr55p13Beta-aminoisobutyric acid urinary excretion of210100
AHCYchr2020cen-q13.1Hypermethioninemia with deficiency of S- adenosylhomocysteine hydrolase613752
AHI1chr66q23.3Joubert syndrome 3608629
AHRchr77p15Retinitis pigmentosa 85618345
AHSGchr33q27Alopecia-mental retardation syndrome 1203650
AICDAchr1212p13Immunodeficiency with hyper-IgM type 2605258
AIFM1chrXXq26.1Cowchock syndrome310490
AIFM1chrXXq26.1Spondyloepimetaphyseal dysplasia X-linked with hypomyelinating leukodystrophy300232
AIFM1chrXXq26.1Combined oxidative phosphorylation deficiency 6300816
AIFM1chrXXq26.1Deafness X-linked 5300614
AIMP1chr44q24Leukodystrophy hypomyelinating 3260600
AIPL1chr1717p13.1Leber congenital amaurosis 4604393
AIPL1chr1717p13.1Retinitis pigmentosa juvenile604393
AIPL1chr1717p13.1Cone-rod dystrophy604393
AIREchr2121q22.3Autoimmune polyendocrinopathy syndrome  type I with or without reversible metaphyseal dysplasia240300
AK1chr99q34.1Hemolytic anemia due to adenylate kinase deficiency612631
AK2chr11p34Reticular dysgenesis267500
AK7chr1414q32.2Spermatogenic failure 27617965
AKR1C2chr1010p15-p1446XY sex reversal 8614279
AKR1C4chr1010p15-p1446XY sex reversal 8 modifier of614279
AKR1D1chr77q32-q33Bile acid synthesis defect congenital 2235555
ALADchr99q34Porphyria acute hepatic612740
ALADchr99q34Lead poisoning susceptibility to612740
ALAS2chrXXp11.21Protoporphyria erythropoietic X-linked300752
ALAS2chrXXp11.21Anemia sideroblastic 1300751
ALDH18A1chr1010q24.3Cutis laxa autosomal recessive type IIIA219150
ALDH18A1chr1010q24.3Spastic paraplegia 9B autosomal recessive616586
ALDH1A3chr1515q26Microphthalmia isolated 8615113
ALDH3A2chr1717p11.2Sjogren-Larsson syndrome270200
ALDH4A1chr11p36Hyperprolinemia type II239510
ALDH5A1chr66p22Succinic semialdehyde dehydrogenase deficiency271980
ALDH6A1chr1414q24.3Methylmalonate semialdehyde dehydrogenase deficiency614105
ALDH7A1chr55q31Epilepsy pyridoxine-dependent266100
ALDOAchr1616p11.2Glycogen storage disease XII611881
ALDOBchr99q22.3Fructose intolerance hereditary229600
ALG1chr1616p13.3Congenital disorder of glycosylation type Ik608540
ALG11chr1313q14.3Congenital disorder of glycosylation type Ip613661
ALG12chr2222q13.33Congenital disorder of glycosylation type Ig607143
ALG14chr11p21.3Myasthenic syndrome congenital 15 without tubular
aggregates
616227
ALG2chr99q22Myasthenic syndrome congenital 14 with tubular
aggregates
616228
ALG2chr99q22Congenital disorder of glycosylation type Ii607906
ALG3chr33q27Congenital disorder of glycosylation type Id601110
ALG6chr11p22.3Congenital disorder of glycosylation type Ic603147
ALG8chr1111pter-p15.5Congenital disorder of glycosylation type Ih608104
ALG8chr1111pter-p15.5Polycystic liver disease 3 with or without kidney cysts617874
ALG9chr1111q23Gillessen-Kaesbach-Nishimura syndrome263210
ALG9chr1111q23Congenital disorder of glycosylation type Il608776
ALMS1chr22p13Alstrom syndrome203800
ALOX12Bchr1717p13.1Ichthyosis congenital autosomal recessive 2242100
ALOXE3chr1717p13.1Ichthyosis congenital autosomal recessive 3606545
ALPLchr11p36.1-p34Hypophosphatasia adult146300
ALPLchr11p36.1-p34Odontohypophosphatasia146300
ALPLchr11p36.1-p34Hypophosphatasia childhood241510
ALPLchr11p36.1-p34Hypophosphatasia infantile241500
ALS2chr22q33Primary lateral sclerosis juvenile606353
ALS2chr22q33Amyotrophic lateral sclerosis 2 juvenile205100
ALS2chr22q33Spastic paralysis infantile onset ascending607225
ALX1chr1212q21.3-q22Frontonasal dysplasia 3613456
ALX3chr11p21-p13Frontonasal dysplasia 1136760
ALX4chr1111p11.2Frontonasal dysplasia 2613451
AMACRchr55p13.2-q11.1Bile acid synthesis defect congenital 4214950
AMACRchr55p13.2-q11.1Alpha-methylacyl-CoA racemase deficiency614307
AMBNchr44q21Amelogenesis imperfecta type IF616270
AMHchr1919p13.3-p13.2Persistent Mullerian duct syndrome type I261550
AMHR2chr1212q13Persistent Mullerian duct syndrome type II261550
AMNchr1414q32Imerslund-Grasbeck syndrome 2618882
AMPD1chr11p21-p13Myopathy due to myoadenylate deaminase deficiency615511
AMPD2chr11p13.3Spastic paraplegia 63615686
AMPD2chr11p13.3Pontocerebellar hypoplasia type 9615809
AMPD3chr1111pter-p13AMP deaminase deficiency erythrocytic612874
AMTchr33p21.2-p21.1Glycine encephalopathy605899
ANAPC1chr22q13Rothmund-Thomson syndrome type 1618625
ANGPTL3chr11p31Hypobetalipoproteinemia familial 2605019
ANK1chr88p11.2Spherocytosis type 1182900
ANK3chr1010q21Mental retardation autosomal recessive 37615493
ANKLE2chr1212q24.33Microcephaly 16 primary autosomal recessive616681
ANKS6chr99q22.33Nephronophthisis 16615382
ANO10chr33p22.1Spinocerebellar ataxia autosomal recessive 10613728
ANO5chr1111p14.3Miyoshi muscular dystrophy 3613319
ANO5chr1111p14.3Muscular dystrophy limb-girdle autosomal recessive 12611307
ANO6chr1212q12Scott syndrome262890
ANOS1chrXXp22.31Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1)308700
ANTXR1chr22p13.1GAPO syndrome230740
ANTXR2chr44q21Hyaline fibromatosis syndrome228600
AP1S1chr77q22.1MEDNIK syndrome609313
AP1S2chrXXp22Mental retardation X-linked syndromic 5304340
AP3B1chr55q14.1Hermansky-Pudlak syndrome 2608233
AP3B2chr1515q25.2Epileptic encephalopathy early infantile 48617276
AP3D1chr1919p13.3Hermansky-Pudlak syndrome 10617050
AP4B1chr11p13.2Spastic paraplegia 47 autosomal recessive614066
AP4E1chr1515q21.2Spastic paraplegia 51 autosomal recessive613744
AP4M1chr77q22.1Spastic paraplegia 50 autosomal recessive612936
AP4S1chr1414q12Spastic paraplegia 52 autosomal recessive614067
AP5Z1chr77p22.1Spastic paraplegia 48 autosomal recessive613647
APC2chr1919p13.3Sotos syndrome 3617169
APC2chr1919p13.3Cortical dysplasia complex with other brain malformations 10618677
APOBchr22p24Hypobetalipoproteinemia615558
APOC2chr1919q13.2Hyperlipoproteinemia type Ib207750
APOEchr1919q13.2Sea-blue histiocyte disease269600
APRTchr1616q24.3Adenine phosphoribosyltransferase deficiency614723
APTXchr99p13.3Ataxia early-onset with oculomotor apraxia and hypoalbuminemia208920
AQP2chr1212q13Diabetes insipidus nephrogenic125800
AQP7chr99p13Glycerol quantitative trait locus614411
ARchrXXq11-q12Hypospadias 1 X-linked300633
ARchrXXq11-q12Androgen insensitivity300068
ARchrXXq11-q12Androgen insensitivity partial with or without breast
cancer
312300
ARchrXXq11-q12Spinal and bulbar muscular atrophy of Kennedy313200
ARFGEF2chr2020q13.13Periventricular heterotopia with microcephaly608097
ARG1chr66q23Argininemia207800
ARHGDIAchr1717q25.3Nephrotic syndrome type 8615244
ARHGEF9chrXXq22.1Epileptic encephalopathy early infantile 8300607
ARL13Bchr33q11.2Joubert syndrome 8612291
ARL2BPchr1616q13Retinitis pigmentosa with or without situs inversus615434
ARL3chr1010q23.3Joubert syndrome 35618161
ARL6chr33p12-q13Bardet-Biedl syndrome 3600151
ARL6chr33p12-q13Bardet-Biedl syndrome 1 modifier of209900
ARL6IP1chr1616p12-p11.2Spastic paraplegia 61 autosomal recessive615685
ARMC4chr1010p12.1Ciliary dyskinesia primary 23615451
ARNT2chr1515q24Webb-Dattani syndrome615926
ARSAchr2222q13.31-qterMetachromatic leukodystrophy250100
ARSBchr55q11-q13Mucopolysaccharidosis type VI (Maroteaux-Lamy)253200
ARV1chr11q42.2Epileptic encephalopathy early infantile 38617020
ARXchrXXp22.13Epileptic encephalopathy early infantile 1308350
ARXchrXXp22.13Lissencephaly X-linked 2300215
ARXchrXXp22.13Proud syndrome300004
ARXchrXXp22.13Mental retardation X-linked 29 and others300419
ARXchrXXp22.13Partington syndrome309510
ARXchrXXp22.13Hydranencephaly with abnormal genitalia300215
ASAH1chr88p22-p21.3Farber lipogranulomatosis228000
ASAH1chr88p22-p21.3Spinal muscular atrophy with progressive myoclonic epilepsy159950
ASCC1chr1010q22.1Spinal muscular atrophy with congenital bone fractures
2
616867
ASLchr77cen-q11.2Argininosuccinic aciduria207900
ASNSchr77q21-q31Asparagine synthetase deficiency615574
ASPAchr1717pter-p13Canavan disease271900
ASPHchr88q12.1Traboulsi syndrome601552
ASPMchr11q31Microcephaly 5 primary autosomal recessive608716
ASS1chr99q34.1Citrullinemia215700
ATAD3Achr11p36.33Harel-Yoon syndrome617183
ATAD3Achr11p36.33Pontocerebellar hypoplasia hypotonia and respiratory
insufficiency syndrome neonatal lethal
618810
ATCAYchr1919p13.3Ataxia cerebellar Cayman type601238
ATF6chr11q22-q23Achromatopsia 7616517
ATICchr22q35AICA-ribosiduria due to ATIC deficiency608688
ATMchr1111q22.3Ataxia-telangiectasia208900
ATOH7chr1010q21.3-q22.1Persistent hyperplastic primary vitreous autosomal
recessive
221900
ATP13A2chr11p36Kufor-Rakeb syndrome606693
ATP13A2chr11p36Spastic paraplegia 78 autosomal recessive617225
ATP2A1chr1616p12Brody myopathy601003
ATP2B2chr33p26-p25Deafness autosomal recessive 12 modifier of601386
ATP2B3chrXXq28Spinocerebellar ataxia X-linked 1302500
ATP6AP2chrXXp11.4Congenital disorder of glycosylation type IIr301045
ATP6AP2chrXXp11.4Mental retardation X-linked syndromic Hedera type300423
ATP6AP2chrXXp11.4Parkinsonism with spasticity X-linked300911
ATP6V0A2chr1212q24.3Wrinkly skin syndrome278250
ATP6V0A2chr1212q24.3Cutis laxa autosomal recessive type IIA219200
ATP6V1B1chr22cen-q13Renal tubular acidosis with deafness267300
ATP7AchrXXq12-q13Occipital horn syndrome304150
ATP7AchrXXq12-q13Menkes disease309400
ATP7AchrXXq12-q13Spinal muscular atrophy distal X-linked 3300489
ATP7Bchr1313q14.3-q21.1Wilson disease277900
ATP8A2chr1313q12Cerebellar ataxia mental retardation and
dysequilibrium syndrome 4
615268
ATP8B1chr1818q21Cholestasis progressive familial intrahepatic 1211600
ATP8B1chr1818q21Cholestasis benign recurrent intrahepatic243300
ATPAF2chr1717p11.2Mitochondrial complex V (ATP synthase) deficiency nuclear type 1604273
ATRchr33q22-q24Seckel syndrome 1210600
ATRXchrXXq13Mental retardation-hypotonic facies syndrome X-linked309580
AUHchr99q22.313-methylglutaconic aciduria type I250950
AURKCchr1919q13.43Spermatogenic failure 5243060
AVPR2chrXXq28Nephrogenic syndrome of inappropriate antidiuresis300539
AVPR2chrXXq28Diabetes insipidus nephrogenic304800
B2Mchr1515q21-q22Immunodeficiency 43241600
B3GALNT2chr11q42.3Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies type A 11615181
B3GALT6chr11p36.3Ehlers-Danlos syndrome spondylodysplastic type 2615349
B3GALT6chr11p36.3Spondyloepimetaphyseal dysplasia with joint laxity type 1 with or without fractures271640
B3GAT3chr1111q12-q13Multiple joint dislocations short stature craniofacial dysmorphism with or without congenital heart defects245600
B3GLCTchr1313q12.3Peters-plus syndrome261540
B4GALNT1chr1212q13.3Spastic paraplegia 26 autosomal recessive609195
B4GALT1chr99p13Congenital disorder of glycosylation type IId607091
B4GALT7chr55q35.2-q35.3Ehlers-Danlos syndrome spondylodysplastic type 1130070
B4GAT1chr1111q13.2Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A 13615287
B9D1chr1717p11.2Meckel syndrome 9614209
B9D1chr1717p11.2Joubert syndrome 27617120
B9D2chr1919q13.2Joubert syndrome 34614175
B9D2chr1919q13.2Meckel syndrome 10614175
BAATchr99q22.3Hypercholanemia familial607748
BANF1chr1111q13.1Nestor-Guillermo progeria syndrome614008
BBIP1chr1010q25.2Bardet-Biedl syndrome 18615995
BBS1chr1111q13Bardet-Biedl syndrome 1209900
BBS10chr1212q21.2Bardet-Biedl syndrome 10615987
BBS12chr44q27Bardet-Biedl syndrome 12615989
BBS2chr1616q21Bardet-Biedl syndrome 2615981
BBS2chr1616q21Retinitis pigmentosa 74616562
BBS4chr1515q22.3-q23Bardet-Biedl syndrome 4615982
BBS5chr22q31Bardet-Biedl syndrome 5615983
BBS7chr44q27Bardet-Biedl syndrome 7615984
BBS9chr77p14Bardet-Biedl syndrome 9615986
BCAMchr1919q13.2Blood group Lutheran null247420
BCAP31chrXXq28Deafness dystonia and cerebral hypomyelination300475
BCAT2chr1919q13Hypervalinemia or hyperleucine-isoleucinemia618850
BCKDHAchr1919q13.1-q13.2Maple syrup urine disease type Ia248600
BCKDHBchr66q14Maple syrup urine disease type Ib248600
BCL10chr11p22Immunodeficiency 37616098
BCORL1chrXXq25-q26.1Shukla-Vernon syndrome301029
BCS1Lchr22q33Leigh syndrome256000
BCS1Lchr22q33GRACILE syndrome603358
BCS1Lchr22q33Bjornstad syndrome262000
BCS1Lchr22q33Mitochondrial complex III deficiency nuclear type 1124000
BDP1chr55q13Deafness autosomal recessive 112618257
BEST1chr1111q13Bestrophinopathy autosomal recessive611809
BFSP1chr2020p12.1-p11.23Cataract 33 multiple types611391
BGNchrXXq28Meester-Loeys syndrome300989
BGNchrXXq28Spondyloepimetaphyseal dysplasia X-linked300106
BHLHA9chr1717p13.3Syndactyly mesoaxial synostotic with phalangeal
reduction
609432
BHLHA9chr1717p13.3Camptosynpolydactyly complex607539
BIN1chr22q14Centronuclear myopathy 2255200
BLMchr1515q26.1Bloom syndrome210900
BLNKchr1010q23.2Agammaglobulinemia 4613502
BLOC1S3chr1919q13Hermansky-Pudlak syndrome 8614077
BLOC1S6chr1515q15Hermansky-pudlak syndrome 9614171
BLVRAchr77p13Hyperbiliverdinemia614156
BMP1chr88p21Osteogenesis imperfecta type XIII614856
BMP2chr2020p12HFE hemochromatosis modifier of235200
BMPERchr77p14.3Diaphanospondylodysostosis608022
BMPR1Bchr44q23-q24Acromesomelic dysplasia Demirhan type609441
BOLA3chr22p13.1Multiple mitochondrial dysfunctions syndrome 2 with
hyperglycinemia
614299
BPGMchr77q31-q34Erythrocytosis familial 8222800
BRAT1chr77p22.3Rigidity and multifocal seizure syndrome lethal
neonatal
614498
BRAT1chr77p22.3Neurodevelopmental disorder with cerebellar atrophy
and with or without seizures
618056
BRF1chr1414q32.33Cerebellofaciodental syndrome616202
BRWD3chrXXq13Mental retardation X-linked 93300659
BSCL2chr1111q13Lipodystrophy congenital generalized type 2269700
BSCL2chr1111q13Encephalopathy progressive with or without
lipodystrophy
615924
BSNDchr11p31Sensorineural deafness with mild renal dysfunction602522
BSNDchr11p31Bartter syndrome type 4a602522
BTDchr33p25Biotinidase deficiency253260
BTKchrXXq21.3-q22Isolated growth hormone deficiency type III with
agammaglobulinemia
307200
BTKchrXXq21.3-q22Agammaglobulinemia X-linked 1300755
BUB1Bchr1515q15Mosaic variegated aneuploidy syndrome 1257300
BVESchr66q21Muscular dystrophy limb-girdle autosomal recessive 25616812
C12orf4chr1212p13.3Mental retardation autosomal recessive 66618221
C12orf57chr1212p13Temtamy syndrome218340
C12orf65chr1212q24.31Spastic paraplegia 55 autosomal recessive615035
C12orf65chr1212q24.31Combined oxidative phosphorylation deficiency 7613559
C19orf12chr1919q12Neurodegeneration with brain iron accumulation 4614298
C19orf12chr1919q12Spastic paraplegia 43 autosomal recessive615043
C1QAchr11p36.3-p34.1C1q deficiency613652
C1QBchr11p36.3-p34.1C1q deficiency613652
C1QCchr11p36.3-p34.1C1q deficiency613652
C2chr66p21.3C2 deficiency217000
C2CD3chr1111q13.4Orofaciodigital syndrome XIV615948
C3chr1919p13.3-p13.2Hemolytic uremic syndrome atypical susceptibility to 5612925
C3chr1919p13.3-p13.2C3 deficiency613779
C4Achr66p21.3C4a deficiency614380
C8Achr11p32C8 deficiency type I613790
C8Bchr11p32C8 deficiency type II613789
C8orf37chr88q22.1Retinitis pigmentosa 64614500
C8orf37chr88q22.1Bardet-Biedl syndrome 21617406
C8orf37chr88q22.1Cone-rod dystrophy 16614500
CA12chr1515q22Hyperchlorhidrosis isolated143860
CA2chr88q22Osteopetrosis autosomal recessive 3 with renal tubular
acidosis
259730
CA5Achr1616q24.3Hyperammonemia due to carbonic anhydrase VA
deficiency
615751
CA8chr88q11-q12Cerebellar ataxia and mental retardation with or
without quadrupedal locomotion 3
613227
CABP2chr1111q13.1Deafness autosomal recessive 93614899
CABP4chr1111q13.1Cone-rod synaptic disorder congenital nonprogressive610427
CACNA1Bchr99q34Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements618497
CACNA1Dchr33p21.1Sinoatrial node dysfunction and deafness614896
CACNA1FchrXXp11.23Cone-rod dystrophy X-linked 3300476
CACNA1FchrXXp11.23Night blindness congenital stationary (incomplete) 2A
X-linked
300071
CACNA1FchrXXp11.23Aland Island eye disease300600
CACNA2D2chr33p21.3Cerebellar atrophy with seizures and variable
developmental delay
618501
CACNA2D4chr1212p13.3Retinal cone dystrophy 4610478
CALCRLchr22q31-q32Lymphatic malformation 8618773
CANT1chr1717q25.3Desbuquois dysplasia 1251450
CANT1chr1717q25.3Epiphyseal dysplasia multiple 7617719
CAPN1chr1111q13Spastic paraplegia 76 autosomal recessive616907
CAPN3chr1515q15.1-q21.1Muscular dystrophy limb-girdle autosomal recessive 1253600
CARD11chr77p22Immunodeficiency 11A615206
CARD9chr99q34.3Candidiasis familial 2 autosomal recessive212050
CARS2chr1313q34Combined oxidative phosphorylation deficiency 27616672
CARTPTchr55q13.2Obesity susceptibility to601665
CASP8chr22q33Autoimmune lymphoproliferative syndrome type IIB607271
CASQ2chr11p13.3-p11Ventricular tachycardia catecholaminergic polymorphic 2611938
CASRchr33q21.1Hyperparathyroidism neonatal239200
CASTchr55q15-q21Peeling skin with leukonychia acral punctate keratoses cheilitis and knuckle pads616295
CATSPER1chr1111q13.1Spermatogenic failure 7612997
CAV1chr77q31.1Lipodystrophy congenital generalized type 3612526
CAVIN1chr1717q21Lipodystrophy congenital generalized type 4613327
CBSchr2121q22.3Homocystinuria B6-responsive and nonresponsive types236200
CBSchr2121q22.3Thrombosis hyperhomocysteinemic236200
CBX2chr1717q2546XY sex reversal 5613080
CC2D1Achr1919p13.12Mental retardation autosomal recessive 3608443
CC2D2Achr44p15.3Meckel syndrome 6612284
CC2D2Achr44p15.3Joubert syndrome 9612285
CC2D2Achr44p15.3COACH syndrome216360
CCBE1chr1818q21.32Hennekam lymphangiectasia-lymphedema syndrome 1235510
CCDC103chr1717q21.31Ciliary dyskinesia primary 17614679
CCDC114chr1919q13.3Ciliary dyskinesia primary 20615067
CCDC151chr1919p13.2Ciliary dyskinesia primary 30616037
CCDC22chrXXp11.23Ritscher-Schinzel syndrome 2300963
CCDC28Bchr11p35.1Bardet-Biedl syndrome 1 modifier of209900
CCDC65chr1212q13.12Ciliary dyskinesia primary 27615504
CCDC8chr1919q13.2-q13.323-M syndrome 3614205
CCDC88Cchr1414q32.11Hydrocephalus congenital 1236600
CCNOchr55q11.2Ciliary dyskinesia primary 29615872
CCT5chr55p15.2Neuropathy hereditary sensory with spastic paraplegia256840
CD19chr1616p11.2Immunodeficiency common variable 3613493
CD247chr11q22-q23Immunodeficiency 25610163
CD27chr1212p13Lymphoproliferative syndrome 2615122
CD36chr77q21.11Platelet glycoprotein IV deficiency608404
CD3Dchr1111q23Immunodeficiency 19615617
CD3Echr1111q23Immunodeficiency 18 SCID variant615615
CD3Echr1111q23Immunodeficiency 18615615
CD3Gchr1111q23Immunodeficiency 17 CD3 gamma deficient615607
CD40chr2020q12-q13.2Immunodeficiency with hyper-IgM type 3606843
CD40LGchrXXq26Immunodeficiency X-linked with hyper-IgM308230
CD46chr11q32Hemolytic uremic syndrome atypical susceptibility to 2612922
CD55chr11q32Blood group Cromer613793
CD55chr11q32Complement hyperactivation angiopathic thrombosis and protein-losing enteropathy226300
CD59chr1111p13Hemolytic anemia CD59-mediated with or without
immune-mediated polyneuropathy
612300
CD79Achr1919q13.2Agammaglobulinemia 3613501
CD79Bchr1717q23Agammaglobulinemia 6612692
CD81chr1111pImmunodeficiency common variable 6613496
CD8Achr22p12CD8 deficiency familial608957
CDAN1chr1515q15Dyserythropoietic anemia congenital type Ia224120
CDC6chr1717q21.2Meier-Gorlin syndrome 5613805
CDH23chr1010q21-q22Pituitary adenoma 5 multiple types617540
CDH23chr1010q21-q22Deafness autosomal recessive 12601386
CDH23chr1010q21-q22Usher syndrome type 1D/F digenic601067
CDH23chr1010q21-q22Usher syndrome type 1D601067
CDH3chr1616q22.1Ectodermal dysplasia ectrodactyly and macular
dystrophy
225280
CDH3chr1616q22.1Hypotrichosis congenital with juvenile macular dystrophy601553
CDHR1chr1010q23.1Cone-rod dystrophy 15613660
CDHR1chr1010q23.1Retinitis pigmentosa 65613660
CDK5chr77q36Lissencephaly 7 with cerebellar hypoplasia616342
CDK5RAP2chr99q33.3Microcephaly 3 primary autosomal recessive604804
CDK6chr77q21-q22Microcephaly 12 primary autosomal recessive616080
CDSNchr66p21.3Peeling skin syndrome 1270300
CDT1chr1616q24.3Meier-Gorlin syndrome 4613804
CEACAM16chr1919q13.31Deafness autosomal recessive 113618410
CEBPEchr1414q11.2Specific granule deficiency245480
CENPEchr44q24-q25Microcephaly 13 primary autosomal recessive616051
CENPJchr1313q12.2Microcephaly 6 primary autosomal recessive608393
CENPJchr1313q12.2Seckel syndrome 4613676
CEP120chr55q23.2Joubert syndrome 31617761
CEP120chr55q23.2Short-rib thoracic dysplasia 13 with or without
polydactyly
616300
CEP135chr44q12Microcephaly 8 primary autosomal recessive614673
CEP152chr1515q21.1Microcephaly 9 primary autosomal recessive614852
CEP152chr1515q21.1Seckel syndrome 5613823
CEP164chr1111q23.3Nephronophthisis 15614845
CEP19chr33q29Morbid obesity and spermatogenic failure615703
CEP250chr2020q11.2Cone-rod dystrophy and hearing loss 2618358
CEP290chr1212q21.3Bardet-Biedl syndrome 14615991
CEP290chr1212q21.3Senior-Loken syndrome 6610189
CEP290chr1212q21.3Meckel syndrome 4611134
CEP290chr1212q21.3Joubert syndrome 5610188
CEP41chr77q32Joubert syndrome 15614464
CEP57chr1111q21Mosaic variegated aneuploidy syndrome 2614114
CEP63chr33q22.2Seckel syndrome 6614728
CEP83chr1212q22Nephronophthisis 18615862
CERS3chr1515q26.3Ichthyosis congenital autosomal recessive 9615023
CFAP53chr1818q21.1Heterotaxy visceral 6 autosomal recessive614779
CFBchr66p21.3Complement factor B deficiency615561
CFDchr1919p13.3Complement factor D deficiency613912
CFHchr11q32Complement factor H deficiency609814
CFHchr11q32Hemolytic uremic syndrome atypical susceptibility to 1235400
CFHR1chr11q31-q32.1Hemolytic uremic syndrome atypical susceptibility to235400
CFHR3chr11q31-q32.1Hemolytic uremic syndrome atypical susceptibility to235400
CFIchr44q25Complement factor I deficiency610984
CFL2chr1414q12Nemaline myopathy 7 autosomal recessive610687
CFPchrXXp11.4-p11.23Properdin deficiency X-linked312060
CFTRchr77q31.2Cystic fibrosis219700
CFTRchr77q31.2Congenital bilateral absence of vas deferens277180
CHATchr1010q11.2Myasthenic syndrome congenital 6 presynaptic254210
CHIT1chr11q31-q32Chitotriosidase deficiency614122
CHKBchr2222q13Muscular dystrophy congenital megaconial type602541
CHMP1Achr1616q24.3Pontocerebellar hypoplasia type 8614961
CHRDL1chrXXq22.1-q23Megalocornea 1 X-linked309300
CHRM3chr11q43Prune belly syndrome100100
CHRNA1chr22q24-q32Myasthenic syndrome congenital 1B fast-channel608930
CHRNA1chr22q24-q32Multiple pterygium syndrome lethal type253290
CHRNA3chr1515q25.1Bladder dysfunction autonomic with impaired pupillary
reflex and secondary CAKUT
191800
CHRNB1chr1717p12-p11Myasthenic syndrome congenital 2C associated with
acetylcholine receptor deficiency
616314
CHRNDchr22q33-q34Myasthenic syndrome congenital 3C associated with
acetylcholine receptor deficiency
616323
CHRNDchr22q33-q34Myasthenic syndrome congenital 3B fast-channel616322
CHRNDchr22q33-q34Multiple pterygium syndrome lethal type253290
CHRNEchr1717p13-p12Myasthenic syndrome congenital 4A slow-channel605809
CHRNEchr1717p13-p12Myasthenic syndrome congenital 4C associated with
acetylcholine receptor deficiency
608931
CHRNEchr1717p13-p12Myasthenic syndrome congenital 4B fast-channel616324
CHRNGchr22q33-q34Escobar syndrome265000
CHRNGchr22q33-q34Multiple pterygium syndrome lethal type253290
CHST14chr1515q14Ehlers-Danlos syndrome musculocontractural type 1601776
CHST3chr1010q22.1Spondyloepiphyseal dysplasia with congenital joint dislocations143095
CHST6chr1616q22Macular corneal dystrophy217800
CHST8chr1919q13.1Peeling skin syndrome 3616265
CHSY1chr1515q26.3Temtamy preaxial brachydactyly syndrome605282
CIB2chr1515q24Deafness autosomal recessive 48609439
CIB2chr1515q24Usher syndrome type IJ614869
CIDECchr33p25Lipodystrophy familial partial type 5615238
CIITAchr1616p13Bare lymphocyte syndrome type II complementation
group A
209920
CISD2chr44q22-q24Wolfram syndrome 2604928
CKAP2Lchr22q13Filippi syndrome272440
CLCF1chr1111q13.3Cold-induced sweating syndrome 2610313
CLCN1chr77q35Myotonia congenita recessive255700
CLCN2chr33q26Leukoencephalopathy with ataxia615651
CLCN5chrXXp11.22Proteinuria low molecular weight with hypercalciuric
nephrocalcinosis
308990
CLCN5chrXXp11.22Dent disease300009
CLCN5chrXXp11.22Hypophosphatemic rickets300554
CLCN5chrXXp11.22Nephrolithiasis type I310468
CLCN7chr1616p13Osteopetrosis autosomal recessive 4611490
CLCNKAchr11p36Bartter syndrome type 4b digenic613090
CLCNKBchr11p36Bartter syndrome type 3607364
CLCNKBchr11p36Bartter syndrome type 4b digenic613090
CLDN1chr33q28-q29Ichthyosis leukocyte vacuoles alopecia and sclerosing cholangitis607626
CLDN14chr2121q22.3Deafness autosomal recessive 29614035
CLDN16chr33q27Hypomagnesemia 3 renal248250
CLDN19chr11p34.2Hypomagnesemia 5 renal with ocular involvement248190
CLEC7Achr1212p13.2-p12.3Candidiasis familial 4 autosomal recessive613108
CLIC2chrXXq28Mental retardation X-linked syndromic 32300886
CLIC5chr66p21.1-p12.1Deafness autosomal recessive 103616042
CLMPchr1111q24.1Congenital short bowel syndrome615237
CLN3chr1616p12.1Ceroid lipofuscinosis neuronal 3204200
CLN5chr1313q22.3Ceroid lipofuscinosis neuronal 5256731
CLN6chr1515q21-q23Ceroid lipofuscinosis neuronal Kufs type adult onset204300
CLN6chr1515q21-q23Ceroid lipofuscinosis neuronal 6601780
CLN8chr88p23Ceroid lipofuscinosis neuronal 8600143
CLN8chr88p23Ceroid lipofuscinosis neuronal 8 Northern epilepsy
variant
610003
CLP1chr1111q12.1Pontocerebellar hypoplasia type 10615803
CLPBchr1111q13.43-methylglutaconic aciduria type VII with cataracts
neurologic involvement and neutropenia
616271
CLPPchr1919p13.3Perrault syndrome 3614129
CLRN1chr33q21-q25Usher syndrome type 3A276902
CNGA3chr22q11Achromatopsia 2216900
CNGB1chr1616q21Retinitis pigmentosa 45613767
CNGB3chr88q21-q22Achromatopsia 3262300
CNNM2chr1010q24.33Hypomagnesemia seizures and mental retardation616418
CNNM4chr22q11.2Jalili syndrome217080
CNPY3chr66pter-p12Epileptic encephalopathy early infantile 60617929
CNTN1chr1212q11-q12Myopathy congenital Compton-North612540
CNTN2chr11q32.1Epilepsy myoclonic familial adult 5615400
CNTNAP1chr1717q21Lethal congenital contracture syndrome 7616286
CNTNAP1chr1717q21Hypomyelinating neuropathy congenital 3618186
CNTNAP2chr77q35-q36Pitt-Hopkins like syndrome 1610042
CNTNAP2chr77q35-q36Cortical dysplasia-focal epilepsy syndrome610042
COA5chr22q11.2Cardioencephalomyopathy fatal infantile due to cytochrome c oxidase deficiency 3616500
COA6chr11q42.2Cardioencephalomyopathy fatal infantile due to cytochrome c oxidase deficiency 4616501
COASYchr1717q12-q21Neurodegeneration with brain iron accumulation 6615643
COASYchr1717q12-q21Pontocerebellar hypoplasia type 12618266
COCHchr1414q12-q13Deafness autosomal recessive 110618094
COG1chr1717q25.1Congenital disorder of glycosylation type IIg611209
COG2chr11q42.2Congenital disorder of glycosylation type IIq617395
COG4chr1616q22.1Congenital disorder of glycosylation type IIj613489
COG5chr77q31Congenital disorder of glycosylation type IIi613612
COG6chr1313q13.3Congenital disorder of glycosylation type IIl614576
COG6chr1313q13.3Shaheen syndrome615328
COG7chr1616pCongenital disorder of glycosylation type IIe608779
COL11A1chr11p21Fibrochondrogenesis 1228520
COL11A2chr66p21.3Otospondylomegaepiphyseal dysplasia autosomal
recessive
215150
COL11A2chr66p21.3Fibrochondrogenesis 2614524
COL11A2chr66p21.3Deafness autosomal recessive 53609706
COL17A1chr1010q24.3Epidermolysis bullosa junctional non-Herlitz type226650
COL17A1chr1010q24.3Epidermolysis bullosa junctional localisata variant226650
COL18A1chr2121q22.3Knobloch syndrome type 1267750
COL1A2chr77q22.1Ehlers-Danlos syndrome cardiac valvular type225320
COL25A1chr44q25Fibrosis of extraocular muscles congenital 5616219
COL27A1chr99q32Steel syndrome615155
COL3A1chr22q32.2Ehlers-Danlos syndrome vascular type130050
COL3A1chr22q32.2Polymicrogyria with or without vascular-type EDS618343
COL4A3chr22q36-q37Alport syndrome 2 autosomal recessive203780
COL4A4chr22q36-q37Alport syndrome 2 autosomal recessive203780
COL4A6chrXXq22.3Deafness X-linked 6300914
COL6A1chr2121q22.3Ullrich congenital muscular dystrophy 1254090
COL6A1chr2121q22.3Bethlem myopathy 1158810
COL6A2chr2121q22.3Bethlem myopathy 1158810
COL6A2chr2121q22.3Ullrich congenital muscular dystrophy 1254090
COL6A2chr2121q22.3Myosclerosis congenital255600
COL6A3chr22q37Bethlem myopathy 1158810
COL6A3chr22q37Dystonia 27616411
COL6A3chr22q37Ullrich congenital muscular dystrophy 1254090
COL7A1chr33p21.3EBD inversa226600
COL7A1chr33p21.3Epidermolysis bullosa dystrophica AR226600
COL7A1chr33p21.3Transient bullous of the newborn131705
COL7A1chr33p21.3Epidermolysis bullosa pruriginosa604129
COL7A1chr33p21.3Epidermolysis bullosa pretibial131850
COL9A2chr11p34.2Stickler syndrome type V614284
COLEC11chr22p25.33MC syndrome 2265050
COLQchr33p25Myasthenic syndrome congenital 5603034
COQ2chr44q21-q22Multiple system atrophy susceptibility to146500
COQ2chr44q21-q22Coenzyme Q10 deficiency primary 1607426
COQ4chr99q34.13Coenzyme Q10 deficiency primary 7616276
COQ6chr1414q24.3Coenzyme Q10 deficiency primary 6614650
COQ8Achr11q42.2Coenzyme Q10 deficiency primary 4612016
COQ8Bchr1919q13.1Nephrotic syndrome type 9615573
COQ9chr1616q13Coenzyme Q10 deficiency primary 5614654
CORO1Achr1616p11.2Immunodeficiency 8615401
COX10chr1717p12-p11.2Mitochondrial complex IV deficiency220110
COX10chr1717p12-p11.2Leigh syndrome due to mitochondrial COX4 deficiency256000
COX14chr1212q13.12Mitochondrial complex IV deficiency220110
COX15chr1010q24Cardioencephalomyopathy fatal infantile due to
cytochrome c oxidase deficiency 2
615119
COX15chr1010q24Leigh syndrome due to cytochrome c oxidase
deficiency
256000
COX20chr11q44Mitochondrial complex IV deficiency220110
COX4I2chr2020q11.21Exocrine pancreatic insufficiency dyserythropoietic anemia and calvarial hyperostosis612714
COX6A1chr1212q24.2Charcot-Marie-Tooth disease recessive intermediate D616039
COX6B1chr1919q13.1Mitochondrial complex IV deficiency220110
CPchr33q23-q24Hypoceruloplasminemia hereditary604290
CPchr33q23-q24Hemosiderosis systemic due to aceruloplasminemia604290
CPchr33q23-q24Cerebellar ataxia604290
CPA6chr88q13Febrile seizures familial 11614418
CPA6chr88q13Epilepsy familial temporal lobe 5614417
CPN1chr1010q24.2Carboxypeptidase N deficiency212070
CPOXchr33q12Harderoporphyria618892
CPOXchr33q12Coproporphyria121300
CPS1chr22q35Carbamoylphosphate synthetase I deficiency237300
CPT1Achr1111q13CPT deficiency hepatic type IA255120
CPT2chr11p32CPT II deficiency myopathic stress-induced255110
CPT2chr11p32CPT II deficiency infantile600649
CPT2chr11p32CPT II deficiency lethal neonatal608836
CPT2chr11p32Encephalopathy acute infection-induced 4
susceptibility to
614212
CR2chr11q32Immunodeficiency common variable 7614699
CRADDchr1212q21.33-q23.1Mental retardation autosomal recessive 34 with variant lissencephaly614499
CRATchr99q34.1Neurodegeneration with brain iron accumulation 8617917
CRB1chr11q31-q32.1Retinitis pigmentosa-12600105
CRB1chr11q31-q32.1Leber congenital amaurosis 8613835
CRB2chr99q33.3Ventriculomegaly with cystic kidney disease219730
CRB2chr99q33.3Focal segmental glomerulosclerosis 9616220
CRBNchr33p26.2Mental retardation autosomal recessive 2607417
CREB3L1chr1111p11.2Osteogenesis imperfecta type XVI616229
CRIPTchr22p21Short stature with microcephaly and distinctive facies615789
CRLF1chr1919p12Cold-induced sweating syndrome 1272430
CRTAPchr33p22Osteogenesis imperfecta type VII610682
CRYAAchr2121q22.3Cataract 9 multiple types604219
CRYABchr1111q22.3-q23.1Myopathy myofibrillar 2608810
CRYABchr1111q22.3-q23.1Cardiomyopathy dilated 1II615184
CRYABchr1111q22.3-q23.1Myopathy myofibrillar fatal infantile hypertonic alpha-B
crystallin-related
613869
CRYABchr1111q22.3-q23.1Cataract 16 multiple types613763
CRYBB1chr2222q11.2-q12.1Cataract 17 multiple types611544
CRYBB3chr2222q11.2-q12.2Cataract 22609741
CSF1Rchr55q32Brain abnormalities neurodegeneration and dysosteosclerosis618476
CSF2RBchr2222q12.2-q13.1Surfactant metabolism dysfunction pulmonary 5614370
CSF3Rchr11p35-p34.3Neutropenia severe congenital 7 autosomal recessive617014
CSGALNAC T1chr88p21.3Skeletal dysplasia mild with joint laxity and advanced bone age618870
CSPP1chr88q13.2Joubert syndrome 21615636
CST6chr1111q13Ectodermal dysplasia 15 hypohidrotic/hair type618535
CSTAchr33q21Peeling skin syndrome 4607936
CSTBchr2121q22.3Epilepsy progressive myoclonic 1A (Unverricht and
Lundborg)
254800
CTC1chr1717p13.1Cerebroretinal microangiopathy with calcifications and
cysts
612199
CTDP1chr1818q23Congenital cataracts facial dysmorphism and
neuropathy
604168
CTHchr11p31.1Cystathioninuria219500
CTNNA2chr22p12-p11.1Cortical dysplasia complex with other brain
malformations 9
618174
CTNSchr1717p13Cystinosis nephropathic219800
CTNSchr1717p13Cystinosis ocular nonnephropathic219750
CTNSchr1717p13Cystinosis late-onset juvenile or adolescent
nephropathic
219900
CTNSchr1717p13Cystinosis atypical nephropathic219800
CTPS1chr11p34.1Immunodeficiency 24615897
CTSAchr2020q13.1Galactosialidosis256540
CTSCchr1111q14.1-q14.3Periodontitis 1 juvenile170650
CTSCchr1111q14.1-q14.3Papillon-Lefevre syndrome245000
CTSCchr1111q14.1-q14.3Haim-Munk syndrome245010
CTSDchr1111p15.5Ceroid lipofuscinosis neuronal 10610127
CTSFchr1111q13.1Ceroid lipofuscinosis neuronal 13 Kufs type615362
CTSKchr11q21Pycnodysostosis265800
CUBNchr1010p12.1Proteinuria chronic benign618884
CUBNchr1010p12.1Imerslund-Grasbeck syndrome 1261100
CUL4BchrXXq23Mental retardation X-linked syndromic 15 (Cabezas
type)
300354
CUL7chr66p21.13-M syndrome 1273750
CWF19L1chr1010q24.31Spinocerebellar ataxia autosomal recessive 17616127
CYB5Achr1818q23Methemoglobinemia and ambiguous genitalia250790
CYB5R3chr2222q13.31-qterMethemoglobinemia type I250800
CYB5R3chr2222q13.31-qterMethemoglobinemia type II250800
CYBAchr1616q24Chronic granulomatous disease 4 autosomal recessive233690
CYBBchrXXp21.1Immunodeficiency 34 mycobacteriosis X-linked300645
CYBBchrXXp21.1Chronic granulomatous disease X-linked306400
CYC1chr88q24.3Mitochondrial complex III deficiency nuclear type 6615453
CYP11B1chr88q21Adrenal hyperplasia congenital due to 11-beta-
hydroxylase deficiency
202010
CYP11B2chr88q21Hypoaldosteronism congenital due to CMO II
deficiency
610600
CYP11B2chr88q21Hypoaldosteronism congenital due to CMO I
deficiency
203400
CYP17A1chr1010q24.317-alpha-hydroxylase/1720-lyase deficiency202110
CYP17A1chr1010q24.31720-lyase deficiency isolated202110
CYP1B1chr22p22-p21Glaucoma 3A primary open angle congenital juvenile
or adult onset
231300
CYP21A2chr66p21.3Adrenal hyperplasia congenital due to 21-hydroxylase
deficiency
201910
CYP21A2chr66p21.3Hyperandrogenism nonclassic type due to 21-
hydroxylase deficiency
201910
CYP24A1chr2020q13.2-q13.3Hypercalcemia infantile 1143880
CYP26C1chr1010q23.3Focal facial dermal dysplasia 4614974
CYP27A1chr22q33-qterCerebrotendinous xanthomatosis213700
CYP27B1chr1212q13.1-q13.3Vitamin D-dependent rickets type I264700
CYP2C19chr1010q24.1-q24.3Clopidogrel impaired responsiveness to609535
CYP2C19chr1010q24.1-q24.3Mephenytoin poor metabolizer609535
CYP2C19chr1010q24.1-q24.3Proguanil poor metabolizer609535
CYP2C19chr1010q24.1-q24.3Omeprazole poor metabolizer609535
CYP2D6chr2222q13.1Debrisoquine sensitivity608902
CYP2D6chr2222q13.1Codeine sensitivity608902
CYP2R1chr1111p15.2Rickets due to defect in vitamin D 25-hydroxylation600081
CYP2U1chr44q25Spastic paraplegia 56 autosomal recessive615030
CYP4F22chr1919p13.12Ichthyosis congenital autosomal recessive 5604777
CYP4V2chr44q35.1Bietti crystalline corneoretinal dystrophy210370
CYP7B1chr88q21.3Spastic paraplegia 5A autosomal recessive270800
CYP7B1chr88q21.3Bile acid synthesis defect congenital 3613812
D2HGDHchr22q37.3D-2-hydroxyglutaric aciduria600721
DAG1chr33p21Muscular dystrophy-dystroglycanopathy (limb-girdle) type C 9613818
DAG1chr33p21Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A 9616538
DARS2chr11q25.1Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation611105
DBHchr99q34Orthostatic hypotension 1 due to DBH deficiency223360
DBTchr11p31Maple syrup urine disease type II248600
DCAF17chr22q22.3-q35Woodhouse-Sakati syndrome241080
DCCchr1818q21.3Gaze palsy familial horizontal with progressive scoliosis
2
617542
DCDC2chr66p22.1Sclerosing cholangitis neonatal617394
DCDC2chr66p22.1Nephronophthisis 19616217
DCDC2chr66p22.1Deafness autosomal recessive 66610212
DCHS1chr1111p15.4Van Maldergem syndrome 1601390
DCLRE1Cchr1010pOmenn syndrome603554
DCLRE1Cchr1010pSevere combined immunodeficiency Athabascan type602450
DCPSchr1111q24.2Al-Raqad syndrome616459
DCTN1chr22p13Amyotrophic lateral sclerosis susceptibility to105400
DCXRchr1717q25.3Pentosuria260800
DDB2chr1111p12-p11Xeroderma pigmentosum group E DDB-negative
subtype
278740
DDCchr77p11Aromatic L-amino acid decarboxylase deficiency608643
DDHD1chr1414q22.1Spastic paraplegia 28 autosomal recessive609340
DDHD2chr88p11.23Spastic paraplegia 54 autosomal recessive615033
DDOSTchr11p36.1Congenital disorder of glycosylation type Ir614507
DDR2chr11q12-qterSpondylometaepiphyseal dysplasia short limb-hand type271665
DDRGK1chr2020p13Spondyloepimetaphyseal dysplasia Shohat type602557
DDX11chr1212p11Warsaw breakage syndrome613398
DDX3XchrXXp11.3-p11.23Intellectual developmental disorder X-linked syndrome
Snijders Blok type
300958
DDX59chr11q32.1Orofaciodigital syndrome V174300
DEAF1chr1111p15.5Neurodevelopmental disorder with hypotonia impaired expressive language and with or without
seizures
617171
DENND5Achr1111p15.4Epileptic encephalopathy early infantile 49617281
DESchr22q35Myopathy myofibrillar 1601419
DGAT1chr88q24.3Diarrhea 7 protein-losing enteropathy type615863
DGKEchr1717q22Hemolytic uremic syndrome atypical susceptibility to 7615008
DGKEchr1717q22Nephrotic syndrome type 7615008
DGUOKchr22p13Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive 4617070
DGUOKchr22p13Portal hypertension noncirrhotic617068
DGUOKchr22p13Mitochondrial DNA depletion syndrome 3
(hepatocerebral type)
251880
DHCR24chr11p33-p31.1Desmosterolosis602398
DHCR7chr1111q12-q13Smith-Lemli-Opitz syndrome270400
DHDDSchr11p36.11Retinitis pigmentosa 59613861
DHDDSchr11p36.11Congenital disorder of glycosylation type 1bb613861
DHFRchr55q11.2-q13.2Megaloblastic anemia due to dihydrofolate reductase deficiency613839
DHHchr1212q13.146XY sex reversal 7233420
DHODHchr1616q22Miller syndrome263750
DHTKD1chr1010p142-aminoadipic 2-oxoadipic aciduria204750
DHX37chr1212q24.31Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies618731
DHX38chr1616q21-q22Retinitis pigmentosa 84618220
DIAPH1chr55q31Seizures cortical blindness microcephaly syndrome616632
DIS3L2chr22q37.2Perlman syndrome267000
DKC1chrXXq28Dyskeratosis congenita X-linked305000
DLATchr1111q23.1Pyruvate dehydrogenase E2 deficiency245348
DLDchr77q31-q32Dihydrolipoamide dehydrogenase deficiency246900
DLG3chrXXq13.1Mental retardation X-linked 90300850
DLL3chr1919q13Spondylocostal dysostosis 1 autosomal recessive277300
DLX5chr77q22Split-hand/foot malformation 1 with sensorineural hearing loss220600
DMDchrXXp21.2Cardiomyopathy dilated 3B302045
DMDchrXXp21.2Becker muscular dystrophy300376
DMDchrXXp21.2Duchenne muscular dystrophy310200
DMGDHchr55q12.2-q12.3Dimethylglycine dehydrogenase deficiency605850
DMP1chr44q21Hypophosphatemic rickets AR241520
DMXL2chr1515q21.2Polyendocrine-polyneuropathy syndrome616113
DMXL2chr1515q21.2Epileptic encephalopathy early infantile 81618663
DNA2chr1010q21.3-q22.1Seckel syndrome 8615807
DNAAF1chr1616q24.1Ciliary dyskinesia primary 13613193
DNAAF3chr1919q13.4Ciliary dyskinesia primary 2606763
DNAAF4chr1515q21Ciliary dyskinesia primary 25615482
DNAAF5chr77p22.3Ciliary dyskinesia primary 18614874
DNAH1chr33p21.3Ciliary dyskinesia primary 37617577
DNAH1chr33p21.3Spermatogenic failure 18617576
DNAH11chr77p21Ciliary dyskinesia primary 7 with or without situs inversus611884
DNAH9chr1717p12Ciliary dyskinesia primary 40618300
DNAI1chr99p13.3Ciliary dyskinesia primary 1 with or without situs inversus244400
DNAJB2chr22q35Spinal muscular atrophy distal autosomal recessive 5614881
DNAJC19chr33q26.33-methylglutaconic aciduria type V610198
DNAJC3chr1313q32Ataxia combined cerebellar and peripheral with
hearing loss and diabetes mellitus
616192
DNAJC6chr11p32.1-p31.3Parkinson disease 19b early-onset615528
DNAJC6chr11p32.1-p31.3Parkinson disease 19a juvenile-onset615528
DNAL1chr1414q24.3Ciliary dyskinesia primary 16614017
DNAL4chr2222q13.1Mirror movements 3616059
DNASE1L3chr33p21.1-p14.3Systemic lupus erythematosus 16614420
DNM1Lchr1212p11.21Encephalopathy lethal due to defective mitochondrial
peroxisomal fission 1
614388
DNM2chr1919p13.2Lethal congenital contracture syndrome 5615368
DNMT3Bchr2020q11.2Immunodeficiency-centromeric instability-facial
anomalies syndrome 1
242860
DOCK3chr33p14Neurodevelopmental disorder with impaired
intellectual development hypotonia and ataxia
618292
DOCK6chr1919p13.2Adams-Oliver syndrome 2614219
DOCK7chr11p31.3Epileptic encephalopathy early infantile 23615859
DOCK8chr99p24Hyper-IgE recurrent infection syndrome autosomal
recessive
243700
DOK7chr44p16.2Fetal akinesia deformation sequence 3618389
DOK7chr44p16.2Myasthenic syndrome congenital 10254300
DOLKchr99q34.11Congenital disorder of glycosylation type Im610768
DPAGT1chr1111q23.3Congenital disorder of glycosylation type Ij608093
DPAGT1chr1111q23.3Myasthenic syndrome congenital 13 with tubular
aggregates
614750
DPH1chr1717p13.3Developmental delay with short stature dysmorphic
facial features and sparse hair
616901
DPM1chr2020q13.13Congenital disorder of glycosylation type Ie608799
DPM2chr99q34.11Congenital disorder of glycosylation type Iu615042
DPM3chr11q12-q21Muscular dystrophy-dystroglycanopathy (limb-girdle)
type C 15
612937
DPY19L2chr1212q14.2Spermatogenic failure 9613958
DPYDchr11p22Dihydropyrimidine dehydrogenase deficiency274270
DPYDchr11p225-fluorouracil toxicity274270
DPYSchr88q22Dihydropyrimidinuria222748
DRC1chr22p23.3Ciliary dyskinesia primary 21615294
DSC2chr1818q12.1Arrhythmogenic right ventricular dysplasia 11 with mild
palmoplantar keratoderma and woolly hair
610476
DSC2chr1818q12.1Arrhythmogenic right ventricular dysplasia 11610476
DSC3chr1818q12.1Hypotrichosis and recurrent skin vesicles613102
DSEchr66q22Ehlers-Danlos syndrome musculocontractural type 2615539
DSG1chr1818q12.1-q12.2Erythroderma congenital with palmoplantar keratoderma hypotrichosis and hyper IgE615508
DSG4chr1818q12Hypotrichosis 6607903
DSPchr66p24Epidermolysis bullosa lethal acantholytic609638
DSPchr66p24Cardiomyopathy dilated with woolly hair and keratoderma605676
DSPchr66p24Skin fragility-woolly hair syndrome607655
DSTchr66p12-p11Neuropathy hereditary sensory and autonomic type VI614653
DSTchr66p12-p11Epidermolysis bullosa simplex autosomal recessive 2615425
DSTYKchr11q32.1Spastic paraplegia 23270750
DTNBP1chr66p22.3Hermansky-Pudlak syndrome 7614076
DUOX2chr1515q15.3Thyroid dyshormonogenesis 6607200
DUOXA2chr1515q15Thyroid dyshormonogenesis 5274900
DYMchr1818q12-q21.1Smith-McCort dysplasia607326
DYMchr1818q12-q21.1Dyggve-Melchior-Clausen disease223800
DYNC2H1chr1111q22.3Short-rib thoracic dysplasia 3 with or without polydactyly613091
DYSFchr22p13.3-p13.1Miyoshi muscular dystrophy 1254130
DYSFchr22p13.3-p13.1Muscular dystrophy limb-girdle autosomal recessive 2253601
DYSFchr22p13.3-p13.1Myopathy distal with anterior tibial onset606768
EARS2chr1616p13.1-p11.2Combined oxidative phosphorylation deficiency 12614924
EBPchrXXp11.23-p11.22MEND syndrome300960
ECEL1chr22q36-q37Arthrogryposis distal type 5D615065
ECHS1chr1010q26.2-q26.3Mitochondrial short-chain enoyl-CoA hydratase 1
deficiency
616277
ECM1chr11q21Urbach-Wiethe disease247100
EDAchrXXq12-q13.1Ectodermal dysplasia 1 hypohidrotic X-linked305100
EDARchr22q11-q13Ectodermal dysplasia 10B hypohidrotic/hair/tooth type
autosomal recessive
224900
EDARADDchr11q42.2-q43Ectodermal dysplasia 11B hypohidrotic/hair/tooth type
autosomal recessive
614941
EDN1chr66p24-p23Auriculocondylar syndrome 3615706
EDN3chr2020q13.2-q13.3Waardenburg syndrome type 4B613265
EDNRBchr1313q22Waardenburg syndrome type 4A277580
EDNRBchr1313q22ABCD syndrome600501
EFEMP2chr1111q13Cutis laxa autosomal recessive type IB614437
EGFRchr77p12.3-p12.1Inflammatory skin and bowel disease neonatal 2616069
EGR2chr1010q21.1-q22.1Dejerine-Sottas disease145900
EGR2chr1010q21.1-q22.1Hypomyelinating neuropathy congenital 1605253
EIF2AK3chr22p12Wolcott-Rallison syndrome226980
EIF2AK4chr1515q15.1Pulmonary venoocclusive disease 2234810
EIF2B1chr1212q24.31Leukoencephalopathy with vanishing white matter603896
EIF2B2chr1414q24Ovarioleukodystrophy603896
EIF2B2chr1414q24Leukoencephalopathy with vanishing white matter603896
EIF2B3chr11p34.1Leukoencephalopathy with vanishing white matter603896
EIF2B4chr22p23.3Leukoencephalopathy with vanishing white matter603896
EIF2B4chr22p23.3Ovarioleukodystrophy603896
EIF2B5chr33q27Leukoencephalopathy with vanishing white matter603896
EIF2B5chr33q27Ovarioleukodystrophy603896
EIF2S3chrXXp22.2-p22.1MEHMO syndrome300148
EIF4A3chr1717q25.3Robin sequence with cleft mandible and limb
anomalies
268305
ELAC2chr1717p11Combined oxidative phosphorylation deficiency 17615440
ELMOD3chr22p11.3Deafness autosomal recessive 88615429
ELOVL4chr66q14Ichthyosis spastic quadriplegia and mental retardation614457
ELP1chr99q31Dysautonomia familial223900
ELP2chr1818q12.2Mental retardation autosomal recessive 58617270
EMC1chr11p36.13Cerebellar atrophy visual impairment and psychomotor retardation616875
EMDchrXXq28Emery-Dreifuss muscular dystrophy 1 X-linked310300
EMG1chr1212p13Bowen-Conradi syndrome211180
EML1chr1414q32Band heterotopia600348
EMP2chr1616p13.2Nephrotic syndrome type 10615861
ENAMchr44q21Amelogenesis imperfecta type IC204650
ENO3chr1717pter-p12Glycogen storage disease XIII612932
ENPP1chr66q22-q23Hypophosphatemic rickets autosomal recessive 2613312
ENPP1chr66q22-q23Obesity susceptibility to601665
ENPP1chr66q22-q23Arterial calcification generalized of infancy 1208000
ENTPD1chr1010q24Spastic paraplegia 64 autosomal recessive615683
EOGTchr33p14.1Adams-Oliver syndrome 4615297
EPB41chr11p36.2-p34Elliptocytosis-1611804
EPCAMchr22p21Diarrhea 5 with tufting enteropathy congenital613217
EPG5chr1818q12.3-q21.1Vici syndrome242840
EPHB2chr11p36.1-p35Bleeding disorder platelet-type 22618462
EPHX1chr11q42.1Hypercholanemia familial607748
EPM2Achr66q24Epilepsy progressive myoclonic 2A (Lafora)254780
EPOchr77q21Diamond-Blackfan anemia-like617911
EPS8chr1212p12.3Deafness autosomal recessive 102615974
EPXchr1717q23.1Eosinophil peroxidase deficiency261500
ERBB3chr1212q13Lethal congenital contractural syndrome 2607598
ERCC1chr1919q13.2-q13.3Cerebrooculofacioskeletal syndrome 4610758
ERCC2chr1919q13.2-q13.3Trichothiodystrophy 1 photosensitive601675
ERCC2chr1919q13.2-q13.3Cerebrooculofacioskeletal syndrome 2610756
ERCC2chr1919q13.2-q13.3Xeroderma pigmentosum group D278730
ERCC3chr22q21Xeroderma pigmentosum group B610651
ERCC3chr22q21Trichothiodystrophy 2 photosensitive616390
ERCC4chr1616p13.3-p13.13Xeroderma pigmentosum type F/Cockayne syndrome278760
ERCC4chr1616p13.3-p13.13Fanconi anemia complementation group Q615272
ERCC4chr1616p13.3-p13.13XFE progeroid syndrome610965
ERCC4chr1616p13.3-p13.13Xeroderma pigmentosum group F278760
ERCC5chr1313q33Xeroderma pigmentosum group G/Cockayne
syndrome
278780
ERCC5chr1313q33Xeroderma pigmentosum group G278780
ERCC5chr1313q33Cerebrooculofacioskeletal syndrome 3616570
ERCC6chr1010q11Cerebrooculofacioskeletal syndrome 1214150
ERCC6chr1010q11Cockayne syndrome type B133540
ERCC6chr1010q11UV-sensitive syndrome 1600630
ERCC6chr1010q11De Sanctis-Cacchione syndrome278800
ERCC6L2chr99q22.32Bone marrow failure syndrome 2615715
ERCC8chr55q12Cockayne syndrome type A216400
ERCC8chr55q12UV-sensitive syndrome 2614621
ERLIN1chr1010q24.31Spastic paraplegia 62615681
ERLIN2chr88p11.2Spastic paraplegia 18 autosomal recessive611225
ESCO2chr88p21.1Roberts syndrome268300
ESCO2chr88p21.1SC phocomelia syndrome269000
ESPNchr11p36.3-p36.1Usher syndrome type 1M618632
ESPNchr11p36.3-p36.1Deafness autosomal recessive 36609006
ESPNchr11p36.3-p36.1Deafness neurosensory without vestibular involvement
autosomal dominant
609006
ESR1chr66q25.1Estrogen resistance615363
ESRRBchr1414q24.3Deafness autosomal recessive 35608565
ETFAchr1515q23-q25Glutaric acidemia IIA231680
ETFBchr1919q13.3Glutaric acidemia IIB231680
ETFDHchr44q32-qterGlutaric acidemia IIC231680
ETHE1chr1919q13.32Ethylmalonic encephalopathy602473
EVCchr44p16Ellis-van Creveld syndrome225500
EVC2chr44p16Ellis-van Creveld syndrome225500
EXOC6Bchr22p13.2Spondyloepimetaphyseal dysplasia with joint laxity
type 3
618395
EXOSC3chr99p13.2Pontocerebellar hypoplasia type 1B614678
EXOSC8chr1313q13.1Pontocerebellar hypoplasia type 1C616081
EXPH5chr1111q22.3Epidermolysis bullosa nonspecific autosomal recessive615028
EXT2chr1111p12-p11Seizures scoliosis and macrocephaly syndrome616682
EXTL3chr88p21Immunoskeletal dysplasia with neurodevelopmental abnormalities617425
EYSchr66q12Retinitis pigmentosa 25602772
F10chr1313q34Factor X deficiency227600
F11chr44q35Factor XI deficiency autosomal recessive612416
F12chr55q33-qterFactor XII deficiency234000
F13A1chr66p25-p24Factor XIIIA deficiency613225
F13Bchr11q31-q32.1Factor XIIIB deficiency613235
F2chr1111p11-q12Hypoprothrombinemia613679
F2chr1111p11-q12Dysprothrombinemia613679
F5chr11q23Factor V deficiency227400
F5chr11q23Budd-Chiari syndrome600880
F7chr1313q34Factor VII deficiency227500
F8chrXXq28Hemophilia A306700
F9chrXXq27.1-q27.2Hemophilia B306900
F9chrXXq27.1-q27.2Warfarin sensitivity301052
FA2Hchr1616q23Spastic paraplegia 35 autosomal recessive612319
FADDchr1111q13.3Infections recurrent with encephalopathy hepatic
dysfunction and cardiovascular malformations
613759
FAHchr1515q23-q25Tyrosinemia type I276700
FAM126Achr77p15.3Leukodystrophy hypomyelinating 5610532
FAM20Achr1717q24.2Amelogenesis imperfecta type IG (enamel-renal syndrome)204690
FAM20Cchr77p22Raine syndrome259775
FAN1chr1515q13.2-q13.3Interstitial nephritis karyomegalic614817
FANCAchr1616q24.3Fanconi anemia complementation group A227650
FANCBchrXXp22.31Fanconi anemia complementation group B300514
FANCCchr99q22.3Fanconi anemia complementation group C227645
FANCD2chr33p25.3Fanconi anemia complementation group D2227646
FANCEchr66p22-p21Fanconi anemia complementation group E600901
FANCIchr1515q25-q26Fanconi anemia complementation group I609053
FANCLchr22p16.1Fanconi anemia complementation group L614083
FANCMchr1414q21.3Spermatogenic failure 28618086
FANCMchr1414q21.3Premature ovarian failure 15618096
FAR1chr1111p15.2Peroxisomal fatty acyl-CoA reductase 1 disorder616154
FARS2chr66p25.1Spastic paraplegia 77 autosomal recessive617046
FARS2chr66p25.1Combined oxidative phosphorylation deficiency 14614946
FASTKD2chr22q33.3Combined oxidative phosphorylation deficiency 44618855
FAT4chr44q28.1Van Maldergem syndrome 2615546
FAT4chr44q28.1Hennekam lymphangiectasia-lymphedema syndrome 2616006
FBLN5chr1414q32.1Macular degeneration age-related 3608895
FBLN5chr1414q32.1Cutis laxa autosomal dominant 2614434
FBLN5chr1414q32.1Neuropathy hereditary with or without age-related
macular degeneration
608895
FBLN5chr1414q32.1Cutis laxa autosomal recessive type IA219100
FBP1chr99q22.2-q22.3Fructose-16-bisphosphatase deficiency229700
FBXL4chr66q16.1-q16.3Mitochondrial DNA depletion syndrome 13
(encephalomyopathic type)
615471
FBXO31chr1616q24.3Mental retardation autosomal recessive 45615979
FBXO7chr2222q12-q13Parkinson disease 15 autosomal recessive260300
FCGR2Achr11q21-q23Pseudomonas aeruginosa susceptibility to chronic infection by in cystic fibrosis219700
FCGR3Achr11q23Immunodeficiency 20615707
FCN3chr11p36.11Immunodeficiency due to ficolin 3 deficiency613860
FDFT1chr88p23.1-p22Squalene synthase deficiency618156
FECHchr1818q21.3Protoporphyria erythropoietic 1177000
FERMT1chr2020p13Kindler syndrome173650
FERMT3chr1111q12Leukocyte adhesion deficiency type III612840
FEZF1chr77q31.32Hypogonadotropic hypogonadism 22 with or without
anosmia
616030
FGAchr44q28Afibrinogenemia congenital202400
FGBchr44q28Afibrinogenemia congenital202400
FGBchr44q28Hypofibrinogenemia congenital202400
FGD1chrXXp11.21Mental retardation X-linked syndromic 16305400
FGD1chrXXp11.21Aarskog-Scott syndrome305400
FGD4chr1212p11.2Charcot-Marie-Tooth disease type 4H609311
FGF16chrXXq21.1Metacarpal 4-5 fusion309630
FGF20chr88p22-p21.3Renal hypodysplasia/aplasia 2615721
FGF23chr1212p13.3Tumoral calcinosis hyperphosphatemic familial 2617993
FGF3chr1111q13Deafness congenital with inner ear agenesis microtia and microdontia610706
FGF5chr44q21Trichomegaly190330
FGFR3chr44p16.3CATSHL syndrome610474
FGGchr44q28Hypofibrinogenemia congenital202400
FHchr11q42.1Fumarase deficiency606812
FHL1chrXXq27.2Reducing body myopathy X-linked 1b with late
childhood or adult onset
300718
FHL1chrXXq27.2Uruguay faciocardiomusculoskeletal syndrome300280
FHL1chrXXq27.2Emery-Dreifuss muscular dystrophy 6 X-linked300696
FHL1chrXXq27.2Myopathy X-linked with postural muscle atrophy300696
FIG4chr66q21Yunis-Varon syndrome216340
FIG4chr66q21Polymicrogyria bilateral temporooccipital612691
FIG4chr66q21Charcot-Marie-Tooth disease type 4J611228
FKBP10chr1717q21.2Bruck syndrome 1259450
FKBP10chr1717q21.2Osteogenesis imperfecta type XI610968
FKBP14chr77p15.1Ehlers-Danlos syndrome kyphoscoliotic type 2614557
FKRPchr1919q13.3Muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5607155
FKRPchr1919q13.3Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation) type B 5606612
FKRPchr1919q13.3Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A 5613153
FKTNchr99q31Muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4611588
FKTNchr99q31Cardiomyopathy dilated 1X611615
FKTNchr99q31Muscular dystrophy-dystroglycanopathy (congenital without mental retardation) type B 4613152
FKTNchr99q31Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A 4253800
FLGchr11q21Ichthyosis vulgaris146700
FLI1chr1111q24Bleeding disorder platelet-type 21617443
FLNAchrXXq28Congenital short bowel syndrome300048
FLNAchrXXq28Intestinal pseudoobstruction neuronal300048
FLNAchrXXq28Cardiac valvular dysplasia X-linked314400
FLNAchrXXq28FG syndrome 2300321
FLNAchrXXq28Frontometaphyseal dysplasia 1305620
FLNBchr33p14.3Spondylocarpotarsal synostosis syndrome272460
FLVCR1chr11q31.3Ataxia posterior column with retinitis pigmentosa609033
FLVCR2chr1414q24.3Proliferative vasculopathy and hydranencephaly-
hydrocephaly syndrome
225790
FMN2chr11q43Mental retardation autosomal recessive 47616193
FMO3chr11q23-q25Trimethylaminuria602079
FOLR1chr1111q13.3-q13.5Neurodegeneration due to cerebral folate transport
deficiency
613068
FOXE1chr99q22Bamforth-Lazarus syndrome241850
FOXE3chr11p32Anterior segment dysgenesis 2 multiple subtypes610256
FOXI1chr55q34Enlarged vestibular aqueduct600791
FOXL2chr33q23Blepharophimosis epicanthus inversus and ptosis type
2
110100
FOXL2chr33q23Blepharophimosis epicanthus inversus and ptosis type
1
110100
FOXN1chr1717q11-q12T-cell immunodeficiency congenital alopecia and nail
dystrophy
601705
FOXP3chrXXp11.23-q13.3Immunodysregulation polyendocrinopathy and enteropathy X-linked304790
FOXRED1chr1111q24.2Mitochondrial complex I deficiency nuclear type 19618241
FRAS1chr44q21Fraser syndrome 1219000
FREM1chr99p22.3Manitoba oculotrichoanal syndrome248450
FREM2chr1313q13.3Fraser syndrome 2617666
FREM2chr1313q13.3Cryptophthalmos unilateral or bilateral isolated123570
FRRS1Lchr99q31.3Epileptic encephalopathy early infantile 37616981
FSHBchr1111p13Hypogonadotropic hypogonadism 24 without anosmia229070
FSHRchr22p21-p16Ovarian dysgenesis 1233300
FSHRchr22p21-p16Ovarian response to FSH stimulation276400
FTCDchr2121q22.3Glutamate formiminotransferase deficiency229100
FTLchr1919q13.3-q13.4Hyperferritinemia-cataract syndrome600886
FTLchr1919q13.3-q13.4Neurodegeneration with brain iron accumulation 3606159
FTLchr1919q13.3-q13.4L-ferritin deficiency dominant and recessive615604
FTOchr1616q12.2Growth retardation developmental delay facial dysmorphism612938
FTOchr1616q12.2Obesity susceptibility to BMIQ14612460
FTSJ1chrXXp11.23Mental retardation X-linked 9/44309549
FUCA1chr11p34Fucosidosis230000
FUT1chr1919q13.3Bombay phenotype616754
FUT2chr1919q13.3Bombay phenotype digenic616754
FUT8chr1414q23Congenital disorder of glycosylation with defective
fucosylation 1
618005
FXNchr99q13Friedreich ataxia with retained reflexes229300
FXNchr99q13Friedreich ataxia229300
FYCO1chr33p21.3Cataract 18 autosomal recessive610019
FZD6chr88q22.3-q23.1Nail disorder nonsyndromic congenital 1161050
G6PCchr1717q21Glycogen storage disease Ia232200
G6PC3chr1717q21Dursun syndrome612541
G6PC3chr1717q21Neutropenia severe congenital 4 autosomal recessive612541
GAAchr1717q25.2-q25.3Glycogen storage disease II232300
GAD1chr22q31Cerebral palsy spastic quadriplegic 1603513
GALCchr1414q31Krabbe disease245200
GALEchr11p36-p35Galactose epimerase deficiency230350
GALK1chr1717q24Galactokinase deficiency with cataracts230200
GALNSchr1616q24.3Mucopolysaccharidosis IVA253000
GALNT2chr11q41-q42Congenital disorder of glycosylation type IIt618885
GALNT3chr22q24-q31Tumoral calcinosis hyperphosphatemic familial 1211900
GALTchr99p13Galactosemia230400
GAMTchr1919p13.3Cerebral creatine deficiency syndrome 2612736
GANchr1616q24.1Giant axonal neuropathy-1256850
GAS2L2chr1717q12Ciliary dyskinesia primary 41618449
GATA1chrXXp11.23Anemia X-linked with/without neutropenia and/or
platelet abnormalities
300835
GATA1chrXXp11.23Thrombocytopenia X-linked with or without dyserythropoietic anemia300367
GATA1chrXXp11.23Thrombocytopenia with beta-thalassemia X-linked314050
GATA5chr2020q13.2-q13.3Congenital heart defects multiple types 5617912
GATAD1chr77q21.2Cardiomyopathy dilated 2B614672
GATMchr1515q21.1Cerebral creatine deficiency syndrome 3612718
GBAchr11q21Gaucher disease type III231000
GBAchr11q21Gaucher disease type IIIC231005
GBAchr11q21Gaucher disease type I230800
GBAchr11q21Gaucher disease perinatal lethal608013
GBAchr11q21Gaucher disease type II230900
GBA2chr99p13.3Spastic paraplegia 46 autosomal recessive614409
GBE1chr33p12Polyglucosan body disease adult form263570
GBE1chr33p12Glycogen storage disease IV232500
GCDHchr1919p13.2Glutaricaciduria type I231670
GCH1chr1414q22.1-q22.2Hyperphenylalaninemia BH4-deficient B233910
GCH1chr1414q22.1-q22.2Dystonia DOPA-responsive with or without hyperphenylalaninemia128230
GCKchr77p15-p13Diabetes mellitus permanent neonatal 1606176
GCLCchr66p12Hemolytic anemia due to gamma-glutamylcysteine
synthetase deficiency
230450
GCNT2chr66p24-p23Cataract 13 with adult i phenotype116700
GCSHchr1616q24Glycine encephalopathy605899
GDAP1chr88q21.11Charcot-Marie-Tooth disease recessive intermediate A608340
GDAP1chr88q21.11Charcot-Marie-Tooth disease type 4A214400
GDAP1chr88q21.11Charcot-Marie-Tooth disease axonal type 2K607831
GDAP1chr88q21.11Charcot-Marie-Tooth disease axonal with vocal cord paresis607706
GDF1chr1919p12Right atrial isomerism (Ivemark)208530
GDF5chr2020q11.2Acromesomelic dysplasia Hunter-Thompson type201250
GDF5chr2020q11.2Brachydactyly type A1 C615072
GDF5chr2020q11.2Chondrodysplasia Grebe type200700
GDF5chr2020q11.2Du Pan syndrome228900
GDF6chr88q22.1Leber congenital amaurosis 17615360
GDF9chr55q31.1Premature ovarian failure 14618014
GEMIN4chr1717p13.3Neurodevelopmental disorder with microcephaly
cataracts and renal abnormalities
617913
GFI1Bchr99q34.13Bleeding disorder platelet-type 17187900
GFM1chr33q25.32Combined oxidative phosphorylation deficiency 1609060
GFM2chr55q13Combined oxidative phosphorylation deficiency 39618397
GFPT1chr22p13Myasthenia congenital 12 with tubular aggregates610542
GGCXchr22p12Vitamin K-dependent clotting factors combined
deficiency of 1
277450
GH1chr1717q22-q24Kowarski syndrome262650
GH1chr1717q22-q24Growth hormone deficiency isolated type IA262400
GHRchr55p13-p12Laron dwarfism262500
GHRHRchr77p15-p14Growth hormone deficiency isolated type IV618157
GHRLchr33p26-p25Obesity susceptibility to601665
GHSRchr33q26.3Growth hormone deficiency isolated partial615925
GIPC3chr1919p13.3Deafness autosomal recessive 15601869
GJA1chr65q22.31Craniometaphyseal dysplasia autosomal recessive218400
GJA1chr65q22.31Oculodentodigital dysplasia autosomal recessive257850
GJA1chr65q22.31Hypoplastic left heart syndrome 1241550
GJB2chr1313q11-q12Deafness autosomal recessive 1A220290
GJB3chr11p35.1Deafness autosomal recessive
GJB3chr11p35.1Deafness digenic GJB2/GJB3220290
GJB3chr11p35.1Erythrokeratodermia variabilis et progressiva 1133200
GJB6chr1313q12Deafness autosomal recessive 1B612645
GJB6chr1313q12Deafness digenic GJB2/GJB6220290
GJC2chr11q42.13Spastic paraplegia 44 autosomal recessive613206
GJC2chr11q42.13Leukodystrophy hypomyelinating 2608804
GKchrXXp21.3-p21.2Glycerol kinase deficiency307030
GLB1chr33p21.33GM1-gangliosidosis type III230650
GLB1chr33p21.33GM1-gangliosidosis type I230500
GLB1chr33p21.33Mucopolysaccharidosis type IVB (Morquio)253010
GLB1chr33p21.33GM1-gangliosidosis type II230600
GLDCchr99p22Glycine encephalopathy605899
GLE1chr99q34Congenital arthrogryposis with anterior horn cell
disease
611890
GLE1chr99q34Lethal congenital contracture syndrome 1253310
GLI1chr1212q13.2-q13.3Polydactyly postaxial type A8618123
GLI1chr1212q13.2-q13.3Polydactyly preaxial I174400
GLIS3chr99p24.3-p23Diabetes mellitus neonatal with congenital hypothyroidism610199
GLRA1chr55q32Hyperekplexia 1149400
GLRBchr44q31.3Hyperekplexia 2614619
GLRX5chr1414q32Anemia sideroblastic 3 pyridoxine-refractory616860
GLRX5chr1414q32Spasticity childhood-onset with hyperglycinemia616859
GLSchr22q32-q34Global developmental delay progressive ataxia and
elevated glutamine
618412
GLSchr22q32-q34Epileptic encephalopathy early infantile 71618328
GLULchr11q31Glutamine deficiency congenital610015
GLYCTKchr33p21D-glyceric aciduria220120
GM2Achr55q31.3-q33.1GM2-gangliosidosis AB variant272750
GMPPAchr22q35Alacrima achalasia and mental retardation syndrome615510
GMPPBchr33p21.31Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A 14615350
GMPPBchr33p21.31Muscular dystrophy-dystroglycanopathy (congenital with mental retardation) type B 14615351
GMPPBchr33p21.31Muscular dystrophy-dystroglycanopathy (limb-girdle)
type C 14
615352
GNAT1chr33p21Night blindness congenital stationary type 1G616389
GNB3chr1212p13Night blindness congenital stationary type 1H617024
GNB5chr1515q21.2Intellectual developmental disorder with cardiac arrhythmia617173
GNB5chr1515q21.2Language delay and ADHD/cognitive impairment with
or without cardiac arrhythmia
617182
GNEchr99p13.3Nonaka myopathy605820
GNMTchr66p12Glycine N-methyltransferase deficiency606664
GNPATchr11q42Rhizomelic chondrodysplasia punctata type 2222765
GNPTABchr1212q23.3Mucolipidosis II alpha/beta252500
GNPTABchr1212q23.3Mucolipidosis III alpha/beta252600
GNPTGchr1616pMucolipidosis III gamma252605
GNRH1chr88p21-p11.2Hypogonadotropic hypogonadism 12 with or without anosmia614841
GNRHRchr44q21.2Hypogonadotropic hypogonadism 7 without anosmia146110
GNSchr1212q14Mucopolysaccharidosis type IIID252940
GORABchr11q24.2Geroderma osteodysplasticum231070
GOSR2chr1717q21Epilepsy progressive myoclonic 6614018
GP1BAchr1717pter-p12Bernard-Soulier syndrome type A1 (recessive)231200
GP1BAchr1717pter-p12Nonarteritic anterior ischemic optic neuropathy
susceptibility to
258660
GP1BBchr2222q11.2Giant platelet disorder isolated231200
GP1BBchr2222q11.2Bernard-Soulier syndrome type B231200
GP6chr1919q13.4Bleeding disorder platelet-type 11614201
GP9chr33q21Bernard-Soulier syndrome type C231200
GPC3chrXXq26Simpson-Golabi-Behmel syndrome type 1312870
GPC4chrXXq26Keipert syndrome301026
GPC6chr1313q32Omodysplasia 1258315
GPD1chr1212q12-q13Hypertriglyceridemia transient infantile614480
GPHNchr1414q24Molybdenum cofactor deficiency C615501
GPIchr1919q13.1Hemolytic anemia nonspherocytic due to glucose
phosphate isomerase deficiency
613470
GPIHBP1chr88q24.3Hyperlipoproteinemia type 1D615947
GPNMBchr77p15.3Amyloidosis primary localized cutaneous 3617920
GPR143chrXXp22.3Ocular albinism type I Nettleship-Falls type300500
GPR143chrXXp22.3Nystagmus 6 congenital X-linked300814
GPR179chr1717q12Night blindness congenital stationary (complete) 1E autosomal recessive614565
GPR68chr1414q31Amelogenesis imperfecta hypomaturation type IIA6617217
GPSM2chr11p13.1Chudley-McCullough syndrome604213
GPT2chr1616q12.1Mental retardation autosomal recessive 49616281
GPX1chr33p21.3Hemolytic anemia due to glutathione peroxidase
deficiency
614164
GPX4chr1919p13.3Spondylometaphyseal dysplasia Sedaghatian type250220
GRHL2chr88q22Ectodermal dysplasia/short stature syndrome616029
GRHPRchr99cenHyperoxaluria primary type II260000
GRIA3chrXXq25-q26Mental retardation X-linked 94300699
GRID2chr44q22Spinocerebellar ataxia autosomal recessive 18616204
GRIK2chr66q21Mental retardation autosomal recessive 6611092
GRIN1chr99q34.3Neurodevelopmental disorder with or without hyperkinetic movements and seizures autosomal
recessive
617820
GRIP1chr1212q14.3Fraser syndrome 3617667
GRM1chr66q24Spinocerebellar ataxia autosomal recessive 13614831
GRM6chr55q35Night blindness congenital stationary (complete) 1B autosomal recessive257270
GRM7chr33p26.1Neurodevelopmental disorder with seizures hypotonia
and brain imaging abnormalities
618922
GRNchr1717q21.32Ceroid lipofuscinosis neuronal 11614706
GRXCR1chr44p13Deafness autosomal recessive 25613285
GRXCR2chr55q32Deafness autosomal recessive 101615837
GSCchr1414q32.1Short stature auditory canal atresia mandibular
hypoplasia skeletal abnormalities
602471
GSRchr88p21.1Hemolytic anemia due to glutathione reductase
deficiency
618660
GSSchr2020q11.2Glutathione synthetase deficiency266130
GSSchr2020q11.2Hemolytic anemia due to glutathione synthetase
deficiency
231900
GSTZ1chr1414q24.3Maleylacetoacetate isomerase deficiency617596
GTPBP3chr1919p13.11Combined oxidative phosphorylation deficiency 23616198
GUCY2Cchr1212p12Meconium ileus614665
GUCY2Dchr1717p13.1Cone-rod dystrophy 6601777
GUCY2Dchr1717p13.1Leber congenital amaurosis 1204000
GUCY2Dchr1717p13.1Night blindness congenital stationary type 1I618555
GUSBchr77q21.11Mucopolysaccharidosis VII253220
GYG1chr33q24-q25.1Glycogen storage disease XV613507
GYG1chr33q24-q25.1Polyglucosan body myopathy 2616199
GYS1chr1919q13.3Glycogen storage disease 0 muscle611556
GYS2chr1212p12.2Glycogen storage disease 0 liver240600
H6PDchr11p36Cortisone reductase deficiency 1604931
HACE1chr66q21Spastic paraplegia and psychomotor retardation with or without seizures616756
HADHchr44q22-q263-hydroxyacyl-CoA dehydrogenase deficiency231530
HADHchr44q22-q26Hyperinsulinemic hypoglycemia familial 4609975
HADHAchr22p23LCHAD deficiency609016
HADHAchr22p23HELLP syndrome maternal of pregnancy609016
HADHAchr22p23Mitochondrial trifunctional protein deficiency609015
HADHAchr22p23Fatty liver acute of pregnancy609016
HADHBchr22p23Trifunctional protein deficiency609015
HALchr1212q22-q23Histidinemia235800
HAMPchr1919q13Hemochromatosis type 2B613313
HARS2chr55q31.3Perrault syndrome 2614926
HAX1chr11q21.3Neutropenia severe congenital 3 autosomal recessive610738
HBBchr1111p15.5Thalassemia beta613985
HBBchr1111p15.5Sickle cell anemia603903
HCFC1chrXXq28Mental retardation X-linked 3 (methylmalonic acidemia
and homocysteinemia cblX type )
309541
HEPACAMchr1111q24Megalencephalic leukoencephalopathy with
subcortical cysts 2A
613925
HERC1chr1515q22.31Macrocephaly dysmorphic facies and psychomotor
retardation
617011
HERC2chr1515q13.1Skin/hair/eye pigmentation 1 blue/nonblue eyes227220
HERC2chr1515q13.1Mental retardation autosomal recessive 38615516
HERC2chr1515q13.1Skin/hair/eye pigmentation 1 blond/brown hair227220
HES7chr1717p13.2Spondylocostal dysostosis 4 autosomal recessive613686
HESX1chr33p21.2-p21.1Pituitary hormone deficiency combined 5182230
HESX1chr33p21.2-p21.1Septooptic dysplasia182230
HESX1chr33p21.2-p21.1Growth hormone deficiency with pituitary anomalies182230
HEXAchr1515q23-q24GM2-gangliosidosis several forms272800
HEXAchr1515q23-q24Tay-Sachs disease272800
HEXAchr1515q23-q24Hex A pseudodeficiency272800
HEXBchr55q13Sandhoff disease infantile juvenile and adult forms268800
HFEchr66p21.3Porphyria cutanea tarda susceptibility to176100
HFEchr66p21.3Hemochromatosis235200
HFM1chr11p22.2Premature ovarian failure 9615724
HGDchr33q13.33Alkaptonuria203500
HGFchr77q21.1Deafness autosomal recessive 39608265
HGSNATchr88p11.1Retinitis pigmentosa 73616544
HGSNATchr88p11.1Mucopolysaccharidosis type IIIC (Sanfilippo C)252930
HIBCHchr22q32.23-hydroxyisobutryl-CoA hydrolase deficiency250620
HINT1chr55q31.2Neuromyotonia and axonal neuropathy autosomal
recessive
137200
HK1chr1010q22Hemolytic anemia due to hexokinase deficiency235700
HK1chr1010q22Neuropathy hereditary motor and sensory Russe type605285
HK1chr1010q22Neurodevelopmental disorder with visual defects and brain anomalies618547
HK1chr1010q22Retinitis pigmentosa 79617460
HLA-DQA1chr66p21.3Celiac disease susceptibility to212750
HLA-DQB1chr66p21.3Celiac disease susceptibility to212750
HLCSchr2121q22.1Holocarboxylase synthetase deficiency253270
HMGCLchr11pter-p33HMG-CoA lyase deficiency246450
HMGCS2chr11p13-p12HMG-CoA synthase-2 deficiency605911
HMX1chr44p16.1Oculoauricular syndrome612109
HNF1Achr1212q24.2Diabetes mellitus insulin-dependent222100
HNMTchr22q22Mental retardation autosomal recessive 51616739
HOGA1chr1010q24.2Hyperoxaluria primary type III613616
HOXA2chr77p15-p14Microtia with or without hearing impairment (AD)612290
HOXA2chr77p15-p14Microtia hearing impairment and cleft palate (AR)612290
HOXB1chr1717q21-q22Facial paresis hereditary congenital 3614744
HOXC13chr1212q13Ectodermal dysplasia 9 hair/nail type614931
HPCAchr11p35-p34.2Dystonia 2 torsion autosomal recessive224500
HPDchr1212q24-qterTyrosinemia type III276710
HPGDchr44q34-q35Hypertrophic osteoarthropathy primary autosomal
recessive 1
259100
HPGDchr44q34-q35Digital clubbing isolated congenital119900
HPGDchr44q34-q35Cranioosteoarthropathy259100
HPRT1chrXXq26.2HPRT-related gout300323
HPRT1chrXXq26.2Lesch-Nyhan syndrome300322
HPS1chr1010q23.1Hermansky-Pudlak syndrome 1203300
HPS3chr33q24Hermansky-Pudlak syndrome 3614072
HPS4chr2222q11.2-q12.2Hermansky-Pudlak syndrome 4614073
HPS5chr1111p15-p13Hermansky-Pudlak syndrome 5614074
HPS6chr1010q24.32Hermansky-Pudlak syndrome 6614075
HPSE2chr1010q23-q24Urofacial syndrome 1236730
HRchr88p21.2Alopecia universalis203655
HRchr88p21.2Atrichia with papular lesions209500
HSD11B2chr1616q22Apparent mineralocorticoid excess218030
HSD17B3chr99q22Pseudohermaphroditism male with gynecomastia264300
HSD17B4chr55q23.1D-bifunctional protein deficiency261515
HSD17B4chr55q23.1Perrault syndrome 1233400
HSD3B2chr11p13.1Adrenal hyperplasia congenital due to 3-beta-
hydroxysteroid dehydrogenase 2 deficiency
201810
HSD3B7chr1616p12-p11.2Bile acid synthesis defect congenital 1607765
HSPA9chr55q31.2Even-plus syndrome616854
HSPD1chr22q33.1Leukodystrophy hypomyelinating 4612233
HSPG2chr11p36.1Dyssegmental dysplasia Silverman-Handmaker type224410
HTRA1chr1010q25.3-q26.2CARASIL syndrome600142
HTRA2chr22p123-methylglutaconic aciduria type VIII617248
HTTchr44p16.3Lopes-Maciel-Rodan syndrome617435
HYAL1chr33p21.3-p21.2Mucopolysaccharidosis type IX601492
HYDINchr1616q22.2Ciliary dyskinesia primary 5608647
HYLS1chr1111q24.2Hydrolethalus syndrome236680
IARS2chr11q41Cataracts growth hormone deficiency sensory neuropathy sensorineural hearing loss and skeletal
dysplasia
616007
IBA57chr11q42.13Spastic paraplegia 74 autosomal recessive616451
IBA57chr11q42.13Multiple mitochondrial dysfunctions syndrome 3615330
ICOSchr22q33Immunodeficiency common variable 1607594
IDSchrXXq28Mucopolysaccharidosis II309900
IDUAchr44p16.3Mucopolysaccharidosis Ih/s607015
IDUAchr44p16.3Mucopolysaccharidosis Ih607014
IDUAchr44p16.3Mucopolysaccharidosis Is607016
IER3IP1chr1818q21.1Microcephaly epilepsy and diabetes syndrome614231
IFNAR2chr2121q22.1Immunodeficiency 45616669
IFNGchr1212q14Immunodeficiency 69 mycobacteriosis618963
IFNGR1chr66q23.3Immunodeficiency 27A mycobacteriosis AR209950
IFNGR2chr2121q22.1-q22.2Immunodeficiency 28 mycobacteriosis614889
IFT122chr33q21Cranioectodermal dysplasia 1218330
IFT140chr1616p13.3Retinitis pigmentosa 80617781
IFT140chr1616p13.3Short-rib thoracic dysplasia 9 with or without polydactyly266920
IFT172chr22p23.3Retinitis pigmentosa 71616394
IFT172chr22p23.3Short-rib thoracic dysplasia 10 with or without
polydactyly
615630
IFT27chr2222q12.3Bardet-Biedl syndrome 19615996
IFT43chr1414q24.3Cranioectodermal dysplasia 3614099
IFT43chr1414q24.3Short-rib thoracic dysplasia 18 with polydactyly617866
IFT43chr1414q24.3Retinitis pigmentosa 81617871
IFT80chr33q25.33Short-rib thoracic dysplasia 2 with or without polydactyly611263
IGBP1chrXXq13.1-q13.3Corpus callosum agenesis of with mental retardation
ocular coloboma and micrognathia
300472
IGF1chr1212q22-q24.1Growth retardation with deafness and mental
retardation due to IGF1 deficiency
608747
IGF1Rchr1515q25-q26Insulin-like growth factor I resistance to270450
IGFBP7chr44q12Retinal arterial macroaneurysm with supravalvular
pulmonic stenosis
614224
IGHMchr1414q32.33Agammaglobulinemia 1601495
IGHMBP2chr1111q13.2-q13.4Neuronopathy distal hereditary motor type VI604320
IGHMBP2chr1111q13.2-q13.4Charcot-Marie-Tooth disease axonal type 2S616155
IGLL1chr2222q11.21Agammaglobulinemia 2613500
IGSF1chrXXq25Hypothyroidism central and testicular enlargement300888
IGSF3chr11p13Lacrimal duct defect149700
IHHchr22q33-q35Acrocapitofemoral dysplasia607778
IKBKBchr88p11.2Immunodeficiency 15B615592
IKBKGchrXXq28Immunodeficiency 33300636
IKBKGchrXXq28Ectodermal dysplasia and immunodeficiency 1300291
IL10RAchr1111q23.3Inflammatory bowel disease 28 early onset autosomal
recessive
613148
IL10RBchr2121q22.1Inflammatory bowel disease 25 early onset autosomal
recessive
612567
IL11RAchr99p13Craniosynostosis and dental anomalies614188
IL12Bchr55q33.3Immunodeficiency 29 mycobacteriosis614890
IL12RB1chr1919p13.1Immunodeficiency 30614891
IL17RAchr2222q11.22-
q11.23
Immunodeficiency 51613953
IL17RDchr33p14.3-p14.2Hypogonadotropic hypogonadism 18 with or without
anosmia
615267
IL1RAPL1chrXXp22.1-p21.3Mental retardation X-linked 21/34300143
IL1RNchr22q14.2Interleukin 1 receptor antagonist deficiency612852
IL21chr44q26-q27Immunodeficiency common variable 11615767
IL21Rchr1616p11Immunodeficiency 56615207
IL2RAchr1010p15.1Immunodeficiency 41 with lymphoproliferation and
autoimmunity
606367
IL2RGchrXXq13Severe combined immunodeficiency X-linked300400
IL2RGchrXXq13Combined immunodeficiency X-linked moderate312863
IL36RNchr22q13Psoriasis 14 pustular614204
IL6chr77p21Diabetes susceptibility to222100
IL6Rchr11q21.3Hyper-IgE recurrent infection syndrome 5 autosomal recessive618944
IL6STchr55q11Hyper-IgE recurrent infection syndrome 4 autosomal recessive618523
IL7chr88q21.13Epidermodysplasia verruciformis susceptibility to 5618309
IL7Rchr55p13Severe combined immunodeficiency T-cell negative B- cell/natural killer cell-positive type608971
ILDR1chr33q21.1Deafness autosomal recessive 42609646
IMPG2chr33q11.2Retinitis pigmentosa 56613581
INPP5Kchr1717p13.3Muscular dystrophy congenital with cataracts and
intellectual disability
617404
INPPL1chr1111q23Opsismodysplasia258480
INSchr1111p15.5Maturity-onset diabetes of the young type 10613370
INSchr1111p15.5Hyperproinsulinemia616214
INSchr1111p15.5Diabetes mellitus insulin-dependent 2125852
INSchr1111p15.5Diabetes mellitus permanent neonatal618858
INSRchr1919p13.2Rabson-Mendenhall syndrome262190
INSRchr1919p13.2Leprechaunism246200
INTUchr44q28Short-rib thoracic dysplasia 20 with polydactyly617925
INTUchr44q28Orofaciodigital syndrome XVII617926
INVSchr99q31Nephronophthisis 2 infantile602088
IQCB1chr33q13.33Senior-Loken syndrome 5609254
IQCEchr77p22.3Polydactyly postaxial type A7617642
IRAK4chr1212q12Immunodeficiency 67607676
IRF7chr1111p15.5Immunodeficiency 39616345
IRF8chr1616q24.1Immunodeficiency 32B monocyte and dendritic cell deficiency autosomal recessive226990
IRF9chr1414q11.2Immunodeficiency 65 susceptibility to viral infections618648
IRS4chrXXq22.3Hypothyroidism congenital nongoitrous 9301035
IRX5chr1616q11.2-q13Hamamy syndrome611174
ISCA2chr1414q24.3Multiple mitochondrial dysfunctions syndrome 4616370
ISCUchr1212q24.1Myopathy with lactic acidosis hereditary255125
ISG15chr11p36.33Immunodeficiency 38616126
ITCHchr2020q11.22-
q11.23
Autoimmune disease multisystem with facial
dysmorphism
613385
ITGA2Bchr1717q21.32Glanzmann thrombasthenia273800
ITGA3chr1717q21.33Interstitial lung disease nephrotic syndrome and epidermolysis bullosa congenital614748
ITGA6chr22q31.1Epidermolysis bullosa junctional with pyloric stenosis226730
ITGA7chr1212q13Muscular dystrophy congenital due to ITGA7 deficiency613204
ITGA8chr1010p13Renal hypodysplasia/aplasia 1191830
ITGB2chr2121q22.3Leukocyte adhesion deficiency116920
ITGB3chr1717q21.32Glanzmann thrombasthenia273800
ITGB4chr1717q11-qterEpidermolysis bullosa junctional with pyloric atresia226730
ITGB4chr1717q11-qterEpidermolysis bullosa junctional non-Herlitz type226650
ITGB6chr22q24.2Amelogenesis imperfecta type IH616221
ITKchr55q32Lymphoproliferative syndrome 1613011
ITPAchr2020pEpileptic encephalopathy early infantile 35616647
ITPR1chr33p26.1Gillespie syndrome206700
ITPR2chr1212p11Anhidrosis isolated with normal sweat glands106190
ITPR3chr66pter-p21Diabetes type 1 susceptibility to222100
IVDchr1515q14-q15Isovaleric acidemia243500
IYDchr66q24-q25Thyroid dyshormonogenesis 4274800
JAGN1chr33p25.3Neutropenia severe congenital 6 autosomal recessive616022
JAK3chr1919p13.1SCID autosomal recessive T-negative/B-positive type600802
JAM3chr1111q25Hemorrhagic destruction of the brain subependymal calcification and cataracts613730
JUPchr1717q21Naxos disease601214
KANK2chr1919p13.2Palmoplantar keratoderma and woolly hair616099
KANK2chr1919p13.2Nephrotic syndrome type 16617783
KATNB1chr1616q21Lissencephaly 6 with microcephaly616212
KCNA4chr1111q13.4-q14.1Microcephaly cataracts impaired intellectual development and dystonia with abnormal striatum618284
KCNE1chr2121q22.1-q22.2Jervell and Lange-Nielsen syndrome 2612347
KCNJ1chr1111q24Bartter syndrome type 2241200
KCNJ10chr11q23.2Enlarged vestibular aqueduct digenic600791
KCNJ10chr11q23.2SESAME syndrome612780
KCNJ11chr1111p15.1Hyperinsulinemic hypoglycemia familial 2601820
KCNJ13chr22q37Leber congenital amaurosis 16614186
KCNMA1chr1010q22.3Cerebellar atrophy developmental delay and seizures617643
KCNQ1chr1111p15.5Jervell and Lange-Nielsen syndrome220400
KCNV2chr99p24.2Retinal cone dystrophy 3B610356
KCTD7chr77q11.21Epilepsy progressive myoclonic 3 with or without
intracellular inclusions
611726
KDM5Bchr11q32Mental retardation autosomal recessive 65618109
KDM5CchrXXp11.22-
p11.21
Mental retardation X-linked syndromic Claes-Jensen
type
300534
KDSRchr1818q21.3Erythrokeratodermia variabilis et progressiva 4617526
KERAchr1212q22Cornea plana 2 autosomal recessive217300
KHDC3Lchr66q13Hydatidiform mole recurrent 2614293
KHKchr22p23.3-p23.2Fructosuria229800
KIAA1109chr44q27Alkuraya-Kucinskas syndrome617822
KIAA1549chr77q34Retinitis pigmentosa 86618613
KIF14chr11q31Microcephaly 20 primary autosomal recessive617914
KIF14chr11q31Meckel syndrome 12616258
KIF1Achr22q37Spastic paraplegia 30 autosomal dominant610357
KIF1Achr22q37Neuropathy hereditary sensory type IIC614213
KIF1Achr22q37Spastic paraplegia 30 autosomal recessive610357
KIF1Cchr1717p13.2Spastic ataxia 2 autosomal recessive611302
KIF4AchrXXq13.1Mental retardation X-linked 100300923
KIF7chr1515q26.1Hydrolethalus syndrome 2614120
KIF7chr1515q26.1Acrocallosal syndrome200990
KIF7chr1515q26.1Joubert syndrome 12200990
KIF7chr1515q26.1Al-Gazali-Bakalinova syndrome607131
KISS1chr11q32Hypogonadotropic hypogonadism 13 with or without anosmia614842
KISS1Rchr1919p13.3Hypogonadotropic hypogonadism 8 with or without
anosmia
614837
KIZchr2020p11.23Retinitis pigmentosa 69615780
KLchr1313q12Tumoral calcinosis hyperphosphatemic familial 3617994
KLHDC8Bchr33p21.31Hodgkin lymphoma susceptibility to236000
KLHL15chrXXp22.1Mental retardation X-linked 103300982
KLHL3chr55q31Pseudohypoaldosteronism type IID614495
KLHL40chr33p22.1Nemaline myopathy 8 autosomal recessive615348
KLHL41chr22q31.1Nemaline myopathy 9615731
KLHL7chr77p15.3PERCHING syndrome617055
KLK4chr1919q13.4Amelogenesis imperfecta type IIA1204700
KLKB1chr44q35Fletcher factor (prekallikrein) deficiency612423
KNG1chr33q27Kininogen deficiency228960
KNG1chr33q27High molecular weight kininogen deficiency228960
KNL1chr1515q15.1Microcephaly 4 primary autosomal recessive604321
KPTNchr1919q13.4Mental retardation autosomal recessive 41615637
KRT1chr1212q13Epidermolytic hyperkeratosis113800
KRT10chr1717q21-q22Epidermolytic hyperkeratosis113800
KRT14chr1717q12-q21Epidermolysis bullosa simplex recessive 1601001
KRT18chr1212q13Cirrhosis noncryptogenic susceptibility to215600
KRT18chr1212q13Cirrhosis cryptogenic215600
KRT5chr1212q13Epidermolysis bullosa simplex recessive 1601001
KRT74chr1212q13Ectodermal dysplasia 7 hair/nail type614929
KRT8chr1212q13Cirrhosis noncryptogenic susceptibility to215600
KRT8chr1212q13Cirrhosis cryptogenic215600
KRT83chr1212q13Erythrokeratodermia variabilis et progressiva 5617756
KRT85chr1212q13Ectodermal dysplasia 4 hair/nail type602032
KYNUchr22q22.2Vertebral cardiac renal and limb defects syndrome 2617661
KYNUchr22q22.2Hydroxykynureninuria236800
L1CAMchrXXq28MASA syndrome303350
L1CAMchrXXq28Hydrocephalus with Hirschsprung disease307000
L1CAMchrXXq28Hydrocephalus with congenital idiopathic intestinal
pseudoobstruction
307000
L1CAMchrXXq28Corpus callosum partial agenesis of304100
L1CAMchrXXq28CRASH syndrome303350
L1CAMchrXXq28Hydrocephalus due to aqueductal stenosis307000
L2HGDHchr1414q22.1L-2-hydroxyglutaric aciduria236792
LAMA1chr1818p11.31Poretti-Boltshauser syndrome615960
LAMA2chr66q22-q23Muscular dystrophy limb-girdle autosomal recessive 23618138
LAMA2chr66q22-q23Muscular dystrophy congenital merosin deficient or partially deficient607855
LAMA3chr1818q11.2Epidermolysis bullosa junctional Herlitz type226700
LAMA3chr1818q11.2Laryngoonychocutaneous syndrome245660
LAMA3chr1818q11.2Epidermolysis bullosa generalized atrophic benign226650
LAMB1chr77q31.1-q31.3Lissencephaly 5615191
LAMB2chr33p21Pierson syndrome609049
LAMB3chr11q32Epidermolysis bullosa junctional Herlitz type226700
LAMB3chr11q32Epidermolysis bullosa junctional non-Herlitz type226650
LAMC2chr11q25-q31Epidermolysis bullosa junctional non-Herlitz type226650
LAMC2chr11q25-q31Epidermolysis bullosa junctional Herlitz type226700
LAMC3chr99q33-q34Cortical malformations occipital614115
LAMTOR2chr11q22Immunodeficiency due to defect in MAPBP-interacting
protein
610798
LARGE1chr2222q12.3-q13.1Muscular dystrophy-dystroglycanopathy (congenital with mental retardation) type B 6608840
LARGE1chr2222q12.3-q13.1Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A 6613154
LARP7chr44q25Alazami syndrome615071
LARS2chr33p21.3Perrault syndrome 4615300
LARS2chr33p21.3Hydrops lactic acidosis and sideroblastic anemia617021
LAS1LchrXXq12Wilson-Turner syndrome309585
LBRchr11q42.1Greenberg skeletal dysplasia215140
LCA5chr66q14.1Leber congenital amaurosis 5604537
LCATchr1616q22.1Norum disease245900
LCATchr1616q22.1Fish-eye disease136120
LCKchr11p35-p34.3Immunodeficiency 22615758
LCTchr22q21Lactase deficiency congenital223000
LDHAchr1111p15.4Glycogen storage disease XI612933
LDLRAP1chr11p36-p35Hypercholesterolemia familial 4603813
LEPchr77q31.3Obesity morbid due to leptin deficiency614962
LEPRchr11p31Obesity morbid due to leptin receptor deficiency614963
P3H1chr11p34Osteogenesis imperfecta type VIII610915
LFNGchr77p22Spondylocostal dysostosis 3 autosomal recessive609813
LGI4chr1919q13.11Arthrogryposis multiplex congenita 1 neurogenic with
myelin defect
617468
LHBchr1919q13.32Hypogonadotropic hypogonadism 23 with or without
anosmia
228300
LHCGRchr22p21Luteinizing hormone resistance female238320
LHCGRchr22p21Leydig cell hypoplasia with pseudohermaphroditism238320
LHCGRchr22p21Leydig cell hypoplasia with hypergonadotropic hypogonadism238320
LHFPL5chr66p21.3Deafness autosomal recessive 67610265
LHX3chr99q34.3Pituitary hormone deficiency combined 3221750
LIASchr44p14Hyperglycinemia lactic acidosis and seizures614462
LIFRchr55p13.1Stuve-Wiedemann syndrome/Schwartz-Jampel type 2
syndrome
601559
LIG4chr1313q22-q34LIG4 syndrome606593
LIM2chr1919q13.4Cataract 19 multiple types615277
LIMS2chr22q14.3Muscular dystrophy autosomal recessive with
cardiomyopathy and triangular tongue
616827
LINS1chr1515q26Mental retardation autosomal recessive 27614340
LIPAchr1010q23.31Wolman disease278000
LIPAchr1010q23.31Cholesteryl ester storage disease278000
LIPCchr1515q21.3Hepatic lipase deficiency614025
LIPEchr1919q13.1-q13.2Lipodystrophy familial partial type 6615980
LIPHchr33q27-q28Woolly hair autosomal recessive 2 with or without hypotrichosis604379
LIPHchr33q27-q28Hypotrichosis 7604379
LIPNchr1010q23.31Ichthyosis congenital autosomal recessive 8613943
LIPT1chr22q11.2Lipoyltransferase 1 deficiency616299
LMAN1chr1818q21.3-q22Combined factor V and VIII deficiency227300
LMAN2Lchr22q11.2Mental retardation autosomal recessive 52616887
LMBR1chr77q36Acheiropody200500
LMBRD1chr66q13Methylmalonic aciduria and homocystinuria cblF type277380
LMF1chr1616p13.3Lipase deficiency combined246650
LMNAchr11q21.2Charcot-Marie-Tooth disease type 2B1605588
LMNAchr11q21.2Hutchinson-Gilford progeria176670
LMNAchr11q21.2Restrictive dermopathy lethal275210
LMNAchr11q21.2Mandibuloacral dysplasia248370
LMNAchr11q21.2Emery-Dreifuss muscular dystrophy 3 autosomal
recessive
616516
LMNB2chr1919p13.3Epilepsy progressive myoclonic 9616540
LMOD3chr33p14.1Nemaline myopathy 10616165
LONP1chr1919p13.2CODAS syndrome600373
LOXHD1chr1818q12-q21Deafness autosomal recessive 77613079
LPAR6chr1313q14.12-
q14.2
Hypotrichosis 8278150
LPAR6chr1313q14.12- q14.2Woolly hair autosomal recessive 1 with or without hypotrichosis278150
LPIN1chr22p21Myoglobinuria acute recurrent autosomal recessive268200
LPLchr88p22Lipoprotein lipase deficiency238600
LPLchr88p22High density lipoprotein cholesterol level QTL 11238600
LRATchr44q31Retinal dystrophy early-onset severe613341
LRATchr44q31Leber congenital amaurosis 14613341
LRATchr44q31Retinitis pigmentosa juvenile613341
LRBAchr44q31.3Immunodeficiency common variable 8 with
autoimmunity
614700
LRIG2chr11p13Urofacial syndrome 2615112
LRIT3chr44q25Night blindness congenital stationary (complete) 1F autosomal recessive615058
LRMDAchr1010q22.3Albinism oculocutaneous type VII615179
LRP1chr1212q13.1-q13.3Keratosis pilaris atrophicans604093
LRP2chr22q24-q31Donnai-Barrow syndrome222448
LRP4chr1111p12-p11.2Myasthenic syndrome congenital 17616304
LRP4chr1111p12-p11.2Sclerosteosis 2614305
LRP4chr1111p12-p11.2Cenani-Lenz syndactyly syndrome212780
LRP5chr1111q13.4Exudative vitreoretinopathy 4601813
LRP5chr1111q13.4Osteoporosis-pseudoglioma syndrome259770
LRPAP1chr44p16.3Myopia 23 autosomal recessive615431
LRPPRCchr22p21Leigh syndrome French-Canadian type220111
LRRC6chr88q24.22Ciliary dyskinesia primary 19614935
LRSAM1chr99q33.3-q34.11Charcot-Marie-Tooth disease axonal type 2P614436
LRTOMTchr1111q13.3-q13.4Deafness autosomal recessive 63611451
LTBP2chr1414q24Microspherophakia and/or megalocornea with ectopia lentis and with or without secondary glaucoma251750
LTBP2chr1414q24Weill-Marchesani syndrome 3 recessive614819
LTBP3chr1111q12Dental anomalies and short stature601216
LTBP4chr1919q13.1-q13.2Cutis laxa autosomal recessive type IC613177
LTC4Schr55q35Leukotriene C4 synthase deficiency614037
LYRM4chr66p25.1Combined oxidative phosphorylation deficiency 19615595
LYRM7chr55q23.3Mitochondrial complex III deficiency nuclear type 8615838
LYSTchr11q42.3Chediak-Higashi syndrome214500
LZTFL1chr33p21.3Bardet-Biedl syndrome 17615994
LZTR1chr2222q11.1-q11.2Noonan syndrome 2605275
MAB21L2chr44q31.3Microphthalmia/coloboma and skeletal dysplasia syndrome615877
MAGchr1919q13.1Spastic paraplegia 75 autosomal recessive616680
MAGI2chr77q21Nephrotic syndrome type 15617609
MAGT1chrXXq13.1-q13.2Immunodeficiency X-linked with magnesium defect
Epstein-Barr virus infection and neoplasia
300853
MAGT1chrXXq13.1-q13.2Congenital disorder of glycosylation type Icc301031
MAKchr66p24.2Retinitis pigmentosa 62614181
MALT1chr1818q21Immunodeficiency 12615468
MAMLD1chrXXq28Hypospadias 2 X-linked300758
MAN1B1chr99q34.3Mental retardation autosomal recessive 15614202
MAN2B1chr1919cen-q12Mannosidosis alpha- types I and II248500
MANBAchr44q22-q25Mannosidosis beta248510
MAOAchrXXp11.23Brunner syndrome300615
MAOAchrXXp11.23Antisocial behavior300615
MAPTchr1717q21.1Supranuclear palsy progressive atypical260540
MARS2chr22q33.1Spastic ataxia 3 autosomal recessive611390
MARS2chr22q33.1Combined oxidative phosphorylation deficiency 25616430
MARVELD2chr55q13.1Deafness autosomal recessive 49610153
MASP1chr33q27-q283MC syndrome 1257920
MASP2chr11p36.3-p36.2MASP2 deficiency613791
MAT1Achr1010q22Methionine adenosyltransferase deficiency autosomal recessive250850
MAT1Achr1010q22Hypermethioninemia persistent autosomal dominant due to methionine adenosyltransferase I/III deficiency250850
MATN3chr22p24-p23Spondyloepimetaphyseal dysplasia608728
MBOAT7chr1919q13.4Mental retardation autosomal recessive 57617188
MBTPS2chrXXp22.12- p22.11IFAP syndrome with or without BRESHECK syndrome308205
MBTPS2chrXXp22.12-
p22.11
Keratosis follicularis spinulosa decalvans X-linked308800
MBTPS2chrXXp22.12-
p22.11
Osteogenesis imperfecta type XIX301014
MBTPS2chrXXp22.12-
p22.11
?Olmsted syndrome X-linked300918
MC1Rchr1616q24.3Skin/hair/eye pigmentation 2 blond hair/fair skin266300
MC1Rchr1616q24.3Albinism oculocutaneous type II modifier of203200
MC1Rchr1616q24.3UV-induced skin damage266300
MC1Rchr1616q24.3Skin/hair/eye pigmentation 2 red hair/fair skin266300
MC2Rchr1818p11.2Glucocorticoid deficiency due to ACTH
unresponsiveness
202200
MC4Rchr1818q22Obesity (BMIQ20)618406
MCCC1chr33q25-q273-Methylcrotonyl-CoA carboxylase 1 deficiency210200
MCCC2chr55q12-q133-Methylcrotonyl-CoA carboxylase 2 deficiency210210
MCEEchr22p13.3Methylmalonyl-CoA epimerase deficiency251120
MCM3APchr2121q22.3Peripheral neuropathy autosomal recessive with or
without impaired intellectual development
618124
MCM4chr88q11.2Immunodeficiency 54609981
MCM5chr2222q13.1Meier-Gorlin syndrome 8617564
MCM8chr2020p13-p12.3Premature ovarian failure 10612885
MCM9chr66q22.1-q22.33Ovarian dysgenesis 4616185
MCOLN1chr1919p13.3-p13.2Mucolipidosis IV252650
MCPH1chr88p23Microcephaly 1 primary autosomal recessive251200
MDH2chr77q11.23Epileptic encephalopathy early infantile 51617339
MDM2chr1212q14.3-q15Lessel-Kubisch syndrome618681
MECP2chrXXq28Mental retardation X-linked syndromic Lubs type300260
MECP2chrXXq28Encephalopathy neonatal severe300673
MECP2chrXXq28Mental retardation X-linked syndromic 13300055
MECP2chrXXq28Autism susceptibility X-linked 3300496
MED12chrXXq13Ohdo syndrome X-linked300895
MED12chrXXq13Lujan-Fryns syndrome309520
MED12chrXXq13Opitz-Kaveggia syndrome305450
MED17chr1111q21Microcephaly postnatal progressive with seizures and
brain atrophy
613668
MED23chr66q23.2Mental retardation autosomal recessive 18614249
MED25chr1919q13.3Basel-Vanagait-Smirin-Yosef syndrome616449
MEFVchr1616p13Familial Mediterranean fever AR249100
MEGF10chr55q23.2Myopathy areflexia respiratory distress and dysphagia
early-onset mild variant
614399
MEGF10chr55q23.2Myopathy areflexia respiratory distress and dysphagia
early-onset
614399
MEGF8chr1919q12Carpenter syndrome 2614976
MEOX1chr1717q21Klippel-Feil syndrome 2214300
MERTKchr22q14.1Retinitis pigmentosa 38613862
MESDchr1515q25.1Osteogenesis imperfecta type XX618644
MESP2chr1515q26.1Spondylocostal dysostosis 2 autosomal recessive608681
METchr77q31Deafness autosomal recessive 97616705
METTL23chr1717q25.1Mental retardation autosomal recessive 44615942
MFFchr22q36.3Encephalopathy due to defective mitochondrial and
peroxisomal fission 2
617086
MFN2chr11p36.2Charcot-Marie-Tooth disease axonal type 2A2B617087
MFRPchr1111q23Microphthalmia isolated 5611040
MFSD2Achr11p34.2Neurodevelopmental disorder with progressive
microcephaly spasticity and brain imaging abnormalities
616486
MFSD8chr44q28.1-q28.2Macular dystrophy with central cone involvement616170
MFSD8chr44q28.1-q28.2Ceroid lipofuscinosis neuronal 7610951
MGAT2chr1414q21Congenital disorder of glycosylation type IIa212066
MGME1chr2020p11.23Mitochondrial DNA depletion syndrome 11615084
MGPchr1212p13.1-p12.3Keutel syndrome245150
MICU1chr1010q22.1Myopathy with extrapyramidal signs615673
MID1chrXXp22Opitz GBBB syndrome type I300000
MID2chrXXq22Mental retardation X-linked 101300928
MIR2861chr99q34.11Bone mineral density QTL 15613418
MITFchr33p14.1-p12.3COMMAD syndrome617306
MKKSchr2020p12Bardet-Biedl syndrome 6605231
MKKSchr2020p12McKusick-Kaufman syndrome236700
MKS1chr1717q23Bardet-Biedl syndrome 13615990
MKS1chr1717q23Joubert syndrome 28617121
MKS1chr1717q23Meckel syndrome 1249000
MLC1chr2222q13.33Megalencephalic leukoencephalopathy with
subcortical cysts
604004
MLH1chr33p21.3Mismatch repair cancer syndrome276300
MLPHchr22q37Griscelli syndrome type 3609227
MLYCDchr1616q24Malonyl-CoA decarboxylase deficiency248360
MMAAchr44q31.1-q31.2Methylmalonic aciduria vitamin B12-responsive251100
MMABchr1212q24Methylmalonic aciduria vitamin B12-responsive due to defect in synthesis of adenosylcobalamin cblB complementation type251110
MMACHCchr11p34.1Methylmalonic aciduria and homocystinuria cblC type277400
MMADHCchr22q23.2Homocystinuria cblD type variant 1277410
MMADHCchr22q23.2Methylmalonic aciduria and homocystinuria cblD type277410
MMADHCchr22q23.2Methylmalonic aciduria cblD type variant 2277410
MMEchr33q21-q27Charcot-Marie-Tooth disease axonal type 2T617017
MMP1chr1111q22-q23Epidermolysis bullosa dystrophica autosomal recessive
modifier of
226600
MMP13chr1111q22.3Metaphyseal dysplasia Spahr type250400
MMP2chr1616q13Multicentric osteolysis nodulosis and arthropathy259600
MMP20chr1111q22.3-q23Amelogenesis imperfecta type IIA2612529
MOCOSchr1818q12.2Xanthinuria type II603592
MOCS1chr66p21.3Molybdenum cofactor deficiency A252150
MOCS2chr55q11Molybdenum cofactor deficiency B252160
MOGSchr22p13.1Congenital disorder of glycosylation type IIb606056
MPC1chr66q27Mitochondrial pyruvate carrier deficiency614741
MPDU1chr1717p13.1-p12Congenital disorder of glycosylation type If609180
MPDZchr99p23Hydrocephalus congenital 2 with or without brain or
eye anomalies
615219
MPIchr1515q22-qterCongenital disorder of glycosylation type Ib602579
MPLchr11p34Thrombocytopenia congenital amegakaryocytic604498
MPLKIPchr77p14Trichothiodystrophy 4 nonphotosensitive234050
MPOchr1717q23.1Myeloperoxidase deficiency254600
MPV17chr22p23-p21Charcot-Marie-Tooth disease axonal type 2EE618400
MPV17chr22p23-p21Mitochondrial DNA depletion syndrome 6
(hepatocerebral type)
256810
MPZchr11q22Dejerine-Sottas disease145900
MRAPchr2121q22.1Glucocorticoid deficiency 2607398
MRPL12chr1717q25-qterCombined oxidative phosphorylation deficiency 45618951
MRPL3chr33q22.1Combined oxidative phosphorylation deficiency 9614582
MRPL44chr22q36Combined oxidative phosphorylation deficiency 16615395
MRPS16chr1010q22.1Combined oxidative phosphorylation deficiency 2610498
MRPS2chr99q34Combined oxidative phosphorylation deficiency 36617950
MRPS22chr33q23Combined oxidative phosphorylation deficiency 5611719
MRPS22chr33q23Ovarian dysgenesis 7618117
MS4A1chr1111q13Immunodeficiency common variable 5613495
MSH2chr22p22-p21Mismatch repair cancer syndrome276300
MSH3chr55q11-q12Familial adenomatous polyposis 4617100
MSH5chr66p21.33Premature ovarian failure 13617442
MSH6chr22p16Mismatch repair cancer syndrome276300
MSMO1chr44q32-q34Microcephaly congenital cataract and psoriasiform dermatitis616834
MSRB3chr1212q14.3Deafness autosomal recessive 74613718
MTFMTchr1515q22.31Combined oxidative phosphorylation deficiency 15614947
MTFMTchr1515q22.31Mitochondrial complex I deficiency nuclear type 27618248
MTHFD1chr1414q24Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia617780
MTHFD1chr1414q24Neural tube defects folate-sensitive susceptibility to601634
MTHFRchr11p36.3Homocystinuria due to MTHFR deficiency236250
MTHFRchr11p36.3Neural tube defects susceptibility to601634
MTHFSchr1515q25.1Neurodevelopmental disorder with microcephaly epilepsy and hypomyelination618367
MTM1chrXXq28Myotubular myopathy X-linked310400
MTMR2chr1111q22Charcot-Marie-Tooth disease type 4B1601382
MTO1chr66q13Combined oxidative phosphorylation deficiency 10614702
MTPAPchr1010p11.23Spastic ataxia 4 autosomal recessive613672
MTRchr11q43Neural tube defects folate-sensitive susceptibility to601634
MTRchr11q43Homocystinuria-megaloblastic anemia cblG complementation type250940
MTRRchr55p15.3-p15.2Neural tube defects folate-sensitive susceptibility to601634
MTRRchr55p15.3-p15.2Homocystinuria-megaloblastic anemia cbl E type236270
MTTPchr44q22-q24Abetalipoproteinemia200100
MUSKchr99q31.3-q32Fetal akinesia deformation sequence 1208150
MUSKchr99q31.3-q32Myasthenic syndrome congenital 9 associated with acetylcholine receptor deficiency616325
MUTYHchr11p34.3-p32.1Adenomas multiple colorectal608456
MVKchr1212q24Hyper-IgD syndrome260920
MVKchr1212q24Mevalonic aciduria610377
MYBPC1chr1212q23.2Lethal congenital contracture syndrome 4614915
MYBPC3chr1111p11.2Cardiomyopathy hypertrophic 4115197
MYD88chr33p22-p21.3Immunodeficiency 68612260
MYF5chr1212q21Ophthalmoplegia external with rib and vertebral
anomalies
618155
MYH2chr1717p13.1Proximal myopathy and ophthalmoplegia605637
MYH3chr1717p13.1Contractures pterygia and spondylocarpotarsal fusion
syndrome 1B
618469
MYH7chr1414q12Myopathy myosin storage autosomal recessive255160
MYL1chr22q32.1-qterMyopathy congenital with fast-twitch (type II) fiber atrophy618414
MYL3chr33pCardiomyopathy hypertrophic 8608751
MYLKchr33q21Megacystis-microcolon-intestinal hypoperistalsis syndrome249210
MYO15Achr1717p11.2Deafness autosomal recessive 3600316
MYO18Bchr2222q12.1Klippel-Feil syndrome 4 autosomal recessive with
myopathy and facial dysmorphism
616549
MYO1Echr1515q21-q22Glomerulosclerosis focal segmental 6614131
MYO3Achr1010p11.1Deafness autosomal recessive 30607101
MYO5Achr1515q21Griscelli syndrome type 1214450
MYO5Bchr1818q21Microvillus inclusion disease251850
MYO6chr66q13Deafness autosomal recessive 37607821
MYO7Achr1111q13.5Deafness autosomal recessive 2600060
MYO7Achr1111q13.5Usher syndrome type 1B276900
MYPNchr1010q21.1Nemaline myopathy 11 autosomal recessive617336
NAA10chrXXq28Ogden syndrome300855
NAA10chrXXq28Microphthalmia syndromic 1309800
NADK2chr55p13.224-dienoyl-CoA reductase deficiency616034
NAGAchr2222q11Kanzaki disease609242
NAGAchr2222q11Schindler disease type I609241
NAGAchr2222q11Schindler disease type III609241
NAGLUchr1717q21Mucopolysaccharidosis type IIIB (Sanfilippo B)252920
NAGSchr1717q21.31N-acetylglutamate synthase deficiency237310
NALCNchr1313q33.11Hypotonia infantile with psychomotor retardation and
characteristic facies 1
615419
NARS2chr1111q14.1Deafness autosomal recessive 94618434
NARS2chr1111q14.1Combined oxidative phosphorylation deficiency 24616239
NAT2chr88p23.1-p21.3Acetylation slow243400
NAT8Lchr44p16.3N-acetylaspartate deficiency614063
NBASchr22p24-p23Infantile liver failure syndrome 2616483
NBASchr22p24-p23Short stature optic nerve atrophy and Pelger-Huet
anomaly
614800
NBEAL2chr33p22.1-p21.1Gray platelet syndrome139090
NBNchr88q21Nijmegen breakage syndrome251260
NCAPD2chr1212p13.31Microcephaly 21 primary autosomal recessive617983
NCAPG2chr77q36.3Khan-Khan-Katsanis syndrome618460
NCF1chr77q11.23Chronic granulomatous disease 1 autosomal recessive233700
NCF2chr11q25Chronic granulomatous disease due to deficiency of NCF-2233710
NCF4chr2222q13.1Chronic granulomatous disease 3 autosomal recessive613960
NDE1chr1616p13.1Lissencephaly 4 (with microcephaly)614019
NDE1chr1616p13.1Microhydranencephaly605013
NDPchrXXp11.4Exudative vitreoretinopathy 2 X-linked305390
NDPchrXXp11.4Norrie disease310600
NDRG1chr88q24.3Charcot-Marie-Tooth disease type 4D601455
NDST1chr55q32-q33.3Mental retardation autosomal recessive 46616116
NDUFA1chrXXq24Mitochondrial complex I deficiency nuclear type 12301020
NDUFA10chr22q37.3Mitochondrial complex I deficiency nuclear type 22618243
NDUFA11chr1919p13.3Mitochondrial complex I deficiency nuclear type 14618236
NDUFA12chr1212q22Mitochondrial complex I deficiency nuclear type 23618244
NDUFA13chr1919p13.2-p13.1Mitochondrial complex I deficiency nuclear type 28618249
NDUFA2chr55q31.2Mitochondrial complex I deficiency nuclear type 13618235
NDUFA6chr2222q13.1Mitochondrial complex I deficiency nuclear type 33618253
NDUFA9chr1212pMitochondrial complex I deficiency nuclear type 26618247
NDUFAF1chr1515q13.3Mitochondrial complex I deficiency nuclear type 11618234
NDUFAF2chr55q12.1Mitochondrial complex I deficiency nuclear type 10618233
NDUFAF3chr33p21.31Mitochondrial complex I deficiency nuclear type 18618240
NDUFAF4chr66q16.1Mitochondrial complex I deficiency nuclear type 15618237
NDUFAF5chr2020p12.1Mitochondrial complex I deficiency nuclear type 16618238
NDUFAF6chr88q22.1Fanconi renotubular syndrome 5618913
NDUFAF6chr88q22.1Mitochondrial complex I deficiency nuclear type 17618239
NDUFB3chr22q31.3Mitochondrial complex I deficiency nuclear type 25618246
NDUFB8chr1010q23.2- q23.33Mitochondrial complex I deficiency nuclear type 32618252
NDUFB9chr88q13.3Mitochondrial complex I deficiency nuclear type 24618245
NDUFS1chr22q33-q34Mitochondrial complex I deficiency nuclear type 5618226
NDUFS2chr11q23Mitochondrial complex I deficiency nuclear type 6618228
NDUFS3chr1111p11.11Mitochondrial complex I deficiency nuclear type 8618230
NDUFS4chr55q11.1Mitochondrial complex I deficiency nuclear type 1252010
NDUFS6chr55pter-p15.33Mitochondrial complex I deficiency nuclear type 9618232
NDUFS7chr1919p13Mitochondrial complex I deficiency nuclear type 3618224
NDUFS8chr1111q13Mitochondrial complex I deficiency nuclear type 2618222
NDUFV1chr1111q13Mitochondrial complex I deficiency nuclear type 4618225
NDUFV2chr1818p11.31-
p11.2
Mitochondrial complex I deficiency nuclear type 7618229
NEBchr22q22Nemaline myopathy 2 autosomal recessive256030
NECAP1chr1212p13.31Epileptic encephalopathy early infantile 21615833
NECTIN1chr1111q23-q24Orofacial cleft 7225060
NECTIN1chr1111q23-q24Cleft lip/palate-ectodermal dysplasia syndrome225060
NECTIN4chr11q23.3Ectodermal dysplasia-syndactyly syndrome 1613573
NEFHchr2222q12.2Charcot-Marie-Tooth disease axonal type 2CC616924
NEFHchr2222q12.2Amyotrophic lateral sclerosis susceptibility to105400
NEFLchr88p21Charcot-Marie-Tooth disease type 1F607734
NEK1chr44q33Short-rib thoracic dysplasia 6 with or without polydactyly263520
NEK2chr11q32.2-q41Retinitis pigmentosa 67615565
NEK8chr1717q11.1Renal-hepatic-pancreatic dysplasia 2615415
NEU1chr66p21.3Sialidosis type II256550
NEU1chr66p21.3Sialidosis type I256550
NEUROG3chr1010q21.3Diarrhea 4 malabsorptive congenital610370
NFU1chr22p15-p13Multiple mitochondrial dysfunctions syndrome 1605711
NGFchr11p13.1Neuropathy hereditary sensory and autonomic type V608654
NGLY1chr33p24Congenital disorder of deglycosylation615273
NHLRC1chr66p22.3Epilepsy progressive myoclonic 2B (Lafora)254780
NHP2chr55q35.3Dyskeratosis congenita autosomal recessive 2613987
NINchr1414q22.1Seckel syndrome 7614851
NIPAL4chr55q33Ichthyosis congenital autosomal recessive 6612281
NKX3-2chr44p16.1Spondylo-megaepiphyseal-metaphyseal dysplasia613330
NLRP1chr1717p13Autoinflammation with arthritis and dyskeratosis617388
NLRP1chr1717p13Respiratory papillomatosis juvenile recurrent congenital618803
NLRP7chr1919q13.4Hydatidiform mole recurrent 1231090
NME8chr77p14.1Ciliary dyskinesia primary 6610852
NMNAT1chr11p36.22Leber congenital amaurosis 9608553
NNTchr55p12Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency614736
NOP10chr1515q14-q15Dyskeratosis congenita autosomal recessive 1224230
NPC1chr1818q11-q12Niemann-Pick disease type D257220
NPC1chr1818q11-q12Niemann-Pick disease type C1257220
NPC2chr1414q24.3Niemann-pick disease type C2607625
NPHP1chr22q13Nephronophthisis 1 juvenile256100
NPHP1chr22q13Senior-Loken syndrome-1266900
NPHP1chr22q13Joubert syndrome 4609583
NPHP3chr33q22Meckel syndrome 7267010
NPHP3chr33q22Renal-hepatic-pancreatic dysplasia 1208540
NPHP3chr33q22Nephronophthisis 3604387
NPHP4chr11p36Nephronophthisis 4606966
NPHP4chr11p36Senior-Loken syndrome 4606996
NPHS1chr1919q13.1Nephrotic syndrome type 1256300
NPHS2chr11q25-q31Nephrotic syndrome type 2600995
NPPAchr11p36.2Atrial standstill 2615745
NPR2chr99p21-p12Acromesomelic dysplasia Maroteaux type602875
NR0B1chrXXp21.3-p21.2Adrenal hypoplasia congenital300200
NR0B1chrXXp21.3-p21.246XY sex reversal 2 dosage-sensitive300018
NR0B2chr11p36.1Obesity mild early-onset601665
NR1H4chr1212q23.1Cholestasis progressive familial intrahepatic 5617049
NR2E3chr1515q23Enhanced S-cone syndrome268100
NR2E3chr1515q23Retinitis pigmentosa 37611131
NRLchr1414q11.1-q11.2Retinal degeneration autosomal recessive clumped
pigment type
NRXN1chr22p16.3Pitt-Hopkins-like syndrome 2614325
NSDHLchrXXq28CK syndrome300831
NSMCE3chr1515q13.1Lung disease immunodeficiency and chromosome
breakage syndrome
617241
NSUN2chr55p15.31Mental retardation autosomal recessive 5611091
NT5C2chr1010q24.3Spastic paraplegia 45 autosomal recessive613162
NT5C3Achr77p15-p14Anemia hemolytic due to UMPH1 deficiency266120
NT5Echr66q14-q21Calcification of joints and arteries211800
NTHL1chr1616p13.3-p13.2Familial adenomatous polyposis 3616415
NTRK1chr11q21-q22Insensitivity to pain congenital with anhidrosis256800
NUBPLchr1414q12Mitochondrial complex I deficiency nuclear type 21618242
NUP107chr1212q15Galloway-Mowat syndrome 7618348
NUP107chr1212q15Ovarian dysgenesis 6618078
NUP107chr1212q15Nephrotic syndrome type 11616730
NUP155chr55p13Atrial fibrillation 15615770
NUP214chr99q34.1Encephalopathy acute infection-induced susceptibility
to 9
618426
NUP62chr1919q13.33Striatonigral degeneration infantile271930
NXNchr1717p13.3Robinow syndrome autosomal recessive 2618529
NYXchrXXp11.4Night blindness congenital stationary (complete) 1A X- linked310500
OATchr1010q26Gyrate atrophy of choroid and retina with or without
ornithinemia
258870
OBSL1chr22q353-M syndrome 2612921
OCA2chr1515q11.2-q12Skin/hair/eye pigmentation 1 blue/nonblue eyes227220
OCA2chr1515q11.2-q12Skin/hair/eye pigmentation 1 blond/brown hair227220
OCA2chr1515q11.2-q12Albinism oculocutaneous type II203200
OCA2chr1515q11.2-q12Albinism brown oculocutaneous203200
OCLNchr55q13.1Pseudo-TORCH syndrome 1251290
OCRLchrXXq26.1Lowe syndrome309000
OCRLchrXXq26.1Dent disease 2300555
ODAPHchr44q21.1Amelogenesis imperfecta type IIA4614832
OFD1chrXXp22.3-p22.2Retinitis pigmentosa 23300424
OFD1chrXXp22.3-p22.2Joubert syndrome 10300804
OFD1chrXXp22.3-p22.2Simpson-Golabi-Behmel syndrome type 2300209
OGDHchr77p14-p13Alpha-ketoglutarate dehydrogenase deficiency203740
OGTchrXXq13Mental retardation X-linked 106300997
OPA1chr33q28-q29Behr syndrome210000
OPA1chr33q28-q29Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type)616896
OPA3chr1919q13.2-q13.33-methylglutaconic aciduria type III258501
OPHN1chrXXq12Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance300486
OPLAHchr88q24.35-oxoprolinase deficiency260005
OPN1LWchrXXq28Blue cone monochromacy303700
OPN1LWchrXXq28Colorblindness protan303900
OPN1MWchrXXq28Colorblindness deutan303800
OPN1MWchrXXq28Blue cone monochromacy303700
ORAI1chr1212q24Immunodeficiency 9612782
ORC1chr11p32Meier-Gorlin syndrome 1224690
ORC4chr22q22-q23Meier-Gorlin syndrome 2613800
ORC6chr1616q12Meier-Gorlin syndrome 3613803
OSTM1chr66q21Osteopetrosis autosomal recessive 5259720
OTCchrXXp21.1Ornithine transcarbamylase deficiency311250
OTOAchr1616p12.2Deafness autosomal recessive 22607039
OTOFchr22p23-p22Auditory neuropathy autosomal recessive 1601071
OTOFchr22p23-p22Deafness autosomal recessive 9601071
OTOGchr1111p14.3Deafness autosomal recessive 18B614945
OTOGLchr1212q21.31Deafness autosomal recessive 84B614944
P2RY12chr33q24-q25Bleeding disorder platelet-type 8609821
P3H2chr33q29Myopia high with cataract and vitreoretinal
degeneration
614292
PADI6chr11p36.13Preimplantation embryonic lethality 2617234
PAHchr1212q24.1Hyperphenylalaninemia non-PKU mild261600
PAHchr1212q24.1Phenylketonuria261600
PAK3chrXXq23Mental retardation X-linked 30/47300558
PAM16chr1616p13.3Spondylometaphyseal dysplasia Megarbane-Dagher-
Melike type
613320
PANK2chr2020p13-p12.3HARP syndrome607236
PANK2chr2020p13-p12.3Neurodegeneration with brain iron accumulation 1234200
PAPSS2chr1010q22-q24Brachyolmia 4 with mild epiphyseal and metaphyseal changes612847
PARK7chr11p36Parkinson disease 7 autosomal recessive early-onset606324
PARNchr1616p13.12Dyskeratosis congenita autosomal recessive 6616353
PARS2chr11p32.2Epileptic encephalopathy early infantile 75618437
PAX1chr2020p11.2Otofaciocervical syndrome 2615560
PAX3chr22q36.1Waardenburg syndrome type 3148820
PAX4chr77q32Diabetes mellitus ketosis-prone susceptibility to612227
PAX7chr11p36.2-p36.12Myopathy congenital progressive with scoliosis618578
PCchr1111q13.4-q13.5Pyruvate carboxylase deficiency266150
PCBD1chr1010q22Hyperphenylalaninemia BH4-deficient D264070
PCCAchr1313q32Propionicacidemia606054
PCCBchr33q21-q22Propionicacidemia606054
PCDH15chr1010q21-q22Usher syndrome type 1D/F digenic601067
PCDH15chr1010q21-q22Usher syndrome type 1F602083
PCDH15chr1010q21-q22Deafness autosomal recessive 23609533
PCK1chr2020q13.31Phosphoenolpyruvate carboxykinase deficiency
cytosolic
261680
PCK2chr1414q11.2-q12PEPCK deficiency mitochondrial261650
PCLOchr77q11.23-q21.1Pontocerebellar hypoplasia type 3608027
PCNAchr2020p12Ataxia-telangiectasia-like disorder 2615919
PCNTchr2121q22.3Microcephalic osteodysplastic primordial dwarfism
type II
210720
PCSK1chr55q15-q21Obesity with impaired prohormone processing600955
PCYT1Achr33q29Spondylometaphyseal dysplasia with cone-rod
dystrophy
608940
PDE10Achr66q27Dyskinesia limb and orofacial infantile-onset616921
PDE6Bchr44p16.3Retinitis pigmentosa-40613801
PDE6Cchr1010q24Cone dystrophy 4613093
PDE6Dchr22q36-q37Joubert syndrome 22615665
PDE6Gchr1717q25Retinitis pigmentosa 57613582
PDE6Hchr1212p13Retinal cone dystrophy 3610024
PDE6Hchr1212p13Achromatopsia 6610024
PDHXchr1111p13Lacticacidemia due to PDX1 deficiency245349
PDP1chr88q22.1Pyruvate dehydrogenase phosphatase deficiency608782
PDSS1chr1010p12.1Coenzyme Q10 deficiency primary 2614651
PDSS2chr66q21Coenzyme Q10 deficiency primary 3614652
PDX1chr1313q12.1Pancreatic agenesis 1260370
PDXKchr2121q22.3Neuropathy hereditary motor and sensory type VIC
with optic atrophy
618511
PDZD7chr1010q24.3Usher syndrome type IIC GPR98/PDZD7 digenic605472
PDZD7chr1010q24.3Deafness autosomal recessive 57618003
PDZD7chr1010q24.3Retinal disease in Usher syndrome type IIA modifier of276901
PEPDchr1919cen-q13.11Prolidase deficiency170100
PET100chr1919p13.2Mitochondrial complex IV deficiency220110
PEX1chr77q21-q22Heimler syndrome 1234580
PEX1chr77q21-q22Peroxisome biogenesis disorder 1B (NALD/IRD)601539
PEX1chr77q21-q22Peroxisome biogenesis disorder 1A (Zellweger)214100
PEX10chr11p36.32Peroxisome biogenesis disorder 6B614871
PEX10chr11p36.32Peroxisome biogenesis disorder 6A (Zellweger)614870
PEX11Bchr11q21.1Peroxisome biogenesis disorder 14B614920
PEX12chr1717q12Peroxisome biogenesis disorder 3A (Zellweger)614859
PEX12chr1717q12Peroxisome biogenesis disorder 3B266510
PEX13chr22p15Peroxisome biogenesis disorder 11A (Zellweger)614883
PEX13chr22p15Peroxisome biogenesis disorder 11B614885
PEX14chr11p36.2Peroxisome biogenesis disorder 13A (Zellweger)614887
PEX16chr1111p12-p11.2Peroxisome biogenesis disorder 8A (Zellweger)614876
PEX16chr1111p12-p11.2Peroxisome biogenesis disorder 8B614877
PEX19chr11q22Peroxisome biogenesis disorder 12A (Zellweger)614886
PEX2chr88q21.1Peroxisome biogenesis disorder 5A (Zellweger)614866
PEX2chr88q21.1Peroxisome biogenesis disorder 5B614867
PEX26chr2222q11.21Peroxisome biogenesis disorder 7A (Zellweger)614872
PEX26chr2222q11.21Peroxisome biogenesis disorder 7B614873
PEX3chr66q24.2Peroxisome biogenesis disorder 10A (Zellweger)614882
PEX3chr66q24.2Peroxisome biogenesis disorder 10B617370
PEX5chr1212p13.3Peroxisome biogenesis disorder 2B202370
PEX5chr1212p13.3Rhizomelic chondrodysplasia punctata type 5616716
PEX5chr1212p13.3Peroxisome biogenesis disorder 2A (Zellweger)214110
PEX6chr66p21.1Peroxisome biogenesis disorder 4B614863
PEX6chr66p21.1Heimler syndrome 2616617
PEX6chr66p21.1Peroxisome biogenesis disorder 4A (Zellweger)614862
PEX7chr66q23.3Peroxisome biogenesis disorder 9B614879
PEX7chr66q23.3Rhizomelic chondrodysplasia punctata type 1215100
PFKMchr1212q13.3Glycogen storage disease VII232800
PGAM2chr77p13-p12.3Glycogen storage disease X261670
PGAP1chr22q33.1Mental retardation autosomal recessive 42615802
PGAP2chr1111p15.5Hyperphosphatasia with mental retardation syndrome
3
614207
PGAP3chr1717q12Hyperphosphatasia with mental retardation syndrome
4
615716
PGK1chrXXq13Phosphoglycerate kinase 1 deficiency300653
PGM1chr11p31Congenital disorder of glycosylation type It614921
PGM3chr66q12Immunodeficiency 23615816
PGRchr1111q22Progesterone resistance264080
PHC1chr1212p13.31Microcephaly 11 primary autosomal recessive615414
PHF6chrXXq26.3Borjeson-Forssman-Lehmann syndrome301900
PHF8chrXXp11.2Mental retardation syndrome X-linked Siderius type300263
PHGDHchr11p12Neu-Laxova syndrome 1256520
PHGDHchr11p12Phosphoglycerate dehydrogenase deficiency601815
PHKA1chrXXq13Muscle glycogenosis300559
PHKA2chrXXp22.2-p22.1Glycogen storage disease type IXa2306000
PHKA2chrXXp22.2-p22.1Glycogen storage disease type IXa1306000
PHKBchr1616q12-q13Phosphorylase kinase deficiency of liver and muscle autosomal recessive261750
PHKG2chr1616p12.1-p11.2Glycogen storage disease IXc613027
PHOX2Achr1111q13.3-q13.4Fibrosis of extraocular muscles congenital 2602078
PHYHchr1010pter-p11.2Refsum disease266500
PI4KAchr2222q11.21Polymicrogyria perisylvian with cerebellar hypoplasia
and arthrogryposis
616531
PIBF1chr1313q21-q22Joubert syndrome 33617767
PIEZO1chr1616q24.3Lymphatic malformation 6616843
PIEZO2chr1818p11.22Arthrogryposis distal with impaired proprioception and touch617146
PIGAchrXXp22.1Multiple congenital anomalies-hypotonia-seizures
syndrome 2
300868
PIGLchr1717p12-p11.2CHIME syndrome280000
PIGMchr11q23.2Glycosylphosphatidylinositol deficiency610293
PIGNchr1818q21.33Multiple congenital anomalies-hypotonia-seizures
syndrome 1
614080
PIGOchr99p13Hyperphosphatasia with mental retardation syndrome
2
614749
PIGQchr1616p13.3Epileptic encephalopathy early infantile 77618548
PIGTchr2020q13.12Multiple congenital anomalies-hypotonia-seizures syndrome 3615398
PIGVchr11p36.11Hyperphosphatasia with mental retardation syndrome 1239300
PIGWchr1717q12Glycosylphosphatidylinositol biosynthesis defect 11616025
PIK3R1chr55q13Agammaglobulinemia 7 autosomal recessive615214
PIK3R5chr1717p13.1Ataxia-oculomotor apraxia 3615217
PINK1chr11p36Parkinson disease 6 early onset605909
PIP5K1Cchr1919p13.3Lethal congenital contractural syndrome 3611369
PITX3chr1010q25Cataract 11 syndromic autosomal recessive610623
PITX3chr1010q25Cataract 11 multiple types610623
PJVKchr22q31.2Deafness autosomal recessive 59610220
PKD1L1chr77p13-p12Heterotaxy visceral 8 autosomal617205
PKHD1chr66p12.3-p12.2Polycystic kidney disease 4 with or without hepatic disease263200
PKLRchr11q21Pyruvate kinase deficiency266200
PKP1chr11q32Ectodermal dysplasia/skin fragility syndrome604536
PLA2G4Achr11q25Gastrointestinal ulceration recurrent with dysfunctional
platelets
618372
PLA2G5chr11p36-p34Fleck retina familial benign228980
PLA2G6chr2222q13.1Infantile neuroaxonal dystrophy 1256600
PLA2G6chr2222q13.1Parkinson disease 14 autosomal recessive612953
PLA2G6chr2222q13.1Neurodegeneration with brain iron accumulation 2B610217
PLA2G7chr66p21.2-p12Platelet-activating factor acetylhydrolase deficiency614278
PLCB1chr2020p12Epileptic encephalopathy early infantile 12613722
PLCB4chr2020p12Auriculocondylar syndrome 2614669
PLCD1chr33p22-p21.3Nail disorder nonsyndromic congenital 3 (leukonychia)151600
PLCE1chr1010q23Nephrotic syndrome type 3610725
PLCZ1chr1212p12.3Spermatogenic failure 17617214
PLECchr88q24Muscular dystrophy limb-girdle autosomal recessive 17613723
PLECchr88q24Epidermolysis bullosa simplex with pyloric atresia612138
PLECchr88q24Epidermolysis bullosa simplex with muscular dystrophy226670
PLECchr88q24Epidermolysis bullosa simplex with nail dystrophy616487
PLEKHG5chr11p36Spinal muscular atrophy distal autosomal recessive 4611067
PLEKHG5chr11p36Charcot-Marie-Tooth disease recessive intermediate C615376
PLEKHM1chr1717q21.3Osteopetrosis autosomal recessive 6611497
PLGchr66q26Dysplasminogenemia217090
PLGchr66q26Plasminogen deficiency type I217090
PLK4chr44q27-q28Microcephaly and chorioretinopathy autosomal
recessive 2
616171
PLOD1chr11p36.3-p36.2Ehlers-Danlos syndrome kyphoscoliotic type 1225400
PLOD2chr33q23-q24Bruck syndrome 2609220
PLOD3chr77q22Lysyl hydroxylase 3 deficiency612394
PLP1chrXXq22Pelizaeus-Merzbacher disease312080
PLP1chrXXq22Spastic paraplegia 2 X-linked312920
PMM2chr1616p13.3-p13.2Congenital disorder of glycosylation type Ia212065
PMP22chr1717p11.2Dejerine-Sottas disease145900
PMPCAchr99q34.3Spinocerebellar ataxia autosomal recessive 2213200
PMS2chr77p22Mismatch repair cancer syndrome276300
PNKPchr1919q13.4Microcephaly seizures and developmental delay613402
PNKPchr1919q13.4Ataxia-oculomotor apraxia 4616267
PNKPchr1919q13.4Charcot-Marie-Tooth disease type 2B2605589
PNLIPchr1010q26.1Pancreatic lipase deficiency614338
PNPchr1414q13.1Immunodeficiency due to purine nucleoside
phosphorylase deficiency
613179
PNPLA1chr66p21.31Ichthyosis congenital autosomal recessive 10615024
PNPLA2chr1111p15.5Neutral lipid storage disease with myopathy610717
PNPLA6chr1919p13.3Spastic paraplegia 39 autosomal recessive612020
PNPLA6chr1919p13.3Boucher-Neuhauser syndrome215470
PNPLA6chr1919p13.3Oliver-McFarlane syndrome275400
PNPLA6chr1919p13.3Laurence-Moon syndrome245800
PNPOchr1717q21.32Pyridoxamine 5′-phosphate oxidase deficiency610090
PNPT1chr22p16.1Deafness autosomal recessive 70614934
PNPT1chr22p16.1Combined oxidative phosphorylation deficiency 13614932
POC1Achr33p21.2Short stature onychodysplasia facial dysmorphism and hypotrichosis614813
POC1Bchr1212q21.33Cone-rod dystrophy 20615973
POF1BchrXXq21Premature ovarian failure 2B300604
POGLUT1chr33q13.33Muscular dystrophy limb-girdle autosomal recessive 21617232
POLA1chrXXp22.3-p21.1Pigmentary disorder reticulate with systemic manifestations X-linked301220
POLA1chrXXp22.3-p21.1Van Esch-O’Driscoll syndrome301030
POLEchr1212q24.3FILS syndrome615139
POLEchr1212q24.3IMAGE-I syndrome618336
POLGchr1515q25Mitochondrial DNA depletion syndrome 4B (MNGIE
type)
613662
POLGchr1515q25Mitochondrial recessive ataxia syndrome (includes
SANDO and SCAE)
607459
POLGchr1515q25Mitochondrial DNA depletion syndrome 4A (Alpers
type)
203700
POLGchr1515q25Progressive external ophthalmoplegia autosomal
recessive 1
258450
POLG2chr1717q23-q24Mitochondrial DNA depletion syndrome 16 (hepatic
type)
618528
POLHchr66p21.1-p12Xeroderma pigmentosum variant type278750
POLR1Cchr66p22.3Treacher Collins syndrome 3248390
POLR1Cchr66p22.3Leukodystrophy hypomyelinating 11616494
POLR1Dchr1313q12.2Treacher Collins syndrome 2613717
POLR3Achr1010q22.3Leukodystrophy hypomyelinating 7 with or without oligodontia and/or hypogonadotropic hypogonadism607694
POLR3Achr1010q22.3Wiedemann-Rautenstrauch syndrome264090
POLR3Bchr1212q23.3Leukodystrophy hypomyelinating 8 with or without oligodontia and/or hypogonadotropic hypogonadism614381
POMCchr22p23.3Obesity early-onset susceptibility to601665
POMCchr22p23.3Obesity adrenal insufficiency and red hair due to
POMC deficiency
609734
POMGNT1chr11p34-p33Muscular dystrophy-dystroglycanopathy (congenital
with mental retardation) type B 3
613151
POMGNT1chr11p34-p33Muscular dystrophy-dystroglycanopathy (limb-girdle)
type C 3
613157
POMGNT1chr11p34-p33Retinitis pigmentosa 76617123
POMGNT1chr11p34-p33Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A 3253280
POMGNT2chr33p22.1Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies type A 8614830
POMGNT2chr33p22.1Muscular dystrophy-dystroglycanopathy (limb-girdle)
type C 8
618135
POMKchr88p11?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C 12616094
POMKchr88p11Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A 12615249
POMPchr1313q12.3Keratosis linearis with ichthyosis congenita and sclerosing keratoderma601952
POMT1chr99q34.1Muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1609308
POMT1chr99q34.1Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A 1236670
POMT1chr99q34.1Muscular dystrophy-dystroglycanopathy (congenital with mental retardation) type B 1613155
POMT2chr1414q24.3Muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2613158
POMT2chr1414q24.3Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A 2613150
POMT2chr1414q24.3Muscular dystrophy-dystroglycanopathy (congenital
with mental retardation) type B 2
613156
POP1chr88q22Anauxetic dysplasia 2617396
PORchr77q11.2Antley-Bixler syndrome with genital anomalies and
disordered steroidogenesis
201750
POU1F1chr33p11Pituitary hormone deficiency combined 1613038
POU3F4chrXXq21.1Deafness X-linked 2304400
PPARGchr33p25Obesity severe601665
PPIBchr1515q21-q22Osteogenesis imperfecta type IX259440
PPP1R15Bchr11q32.1Microcephaly short stature and impaired glucose
metabolism 2
616817
PPT1chr11p32Ceroid lipofuscinosis neuronal 1256730
PQBP1chrXXp11.23Renpenning syndrome309500
PRDM5chr44q27Brittle cornea syndrome 2614170
PREPLchr22p21Myasthenic syndrome congenital 22616224
PRF1chr1010q22Hemophagocytic lymphohistiocytosis familial 2603553
PRG4chr11q24-q25Camptodactyly-arthropathy-coxa vara-pericarditis
syndrome
208250
PRICKLE1chr1212q12Epilepsy progressive myoclonic 1B612437
PRKACGchr99q21.11Bleeding disorder platelet-type 19616176
PRKCDchr33pAutoimmune lymphoproliferative syndrome type III615559
PRKDCchr88q11Immunodeficiency 26 with or without neurologic abnormalities615966
PRKNchr66q25.2-q27Parkinson disease juvenile type 2600116
PRKRAchr22q31.3Dystonia 16612067
PRLRchr55p13.2Hyperprolactinemia615555
PRMT7chr1616q22.1Short stature brachydactyly intellectual developmental
disability and seizures
617157
PROCchr22q13-q14Thrombophilia due to protein C deficiency autosomal
recessive
612304
PRODHchr2222q11.2Hyperprolinemia type I239500
PROM1chr44p15.3Retinitis pigmentosa 41612095
PROM1chr44p15.3Cone-rod dystrophy 12612657
PROP1chr55qPituitary hormone deficiency combined 2262600
PROS1chr33q11.2Thrombophilia due to protein S deficiency autosomal
recessive
614514
PRPHchr1212q12-q13Amyotrophic lateral sclerosis susceptibility to105400
PRPH2chr66p21.1-cenRetinitis punctata albescens136880
PRPH2chr66p21.1-cenRetinitis pigmentosa 7 and digenic form608133
PRPH2chr66p21.1-cenLeber congenital amaurosis 18608133
PRPS1chrXXq22-q24Charcot-Marie-Tooth disease X-linked recessive 5311070
PRPS1chrXXq22-q24Phosphoribosylpyrophosphate synthetase superactivity300661
PRPS1chrXXq22-q24Deafness X-linked 1304500
PRPS1chrXXq22-q24Arts syndrome301835
PRPS1chrXXq22-q24Gout PRPS-related300661
PRRX1chr11q24Agnathia-otocephaly complex202650
PRSS12chr44q25-q26Mental retardation autosomal recessive 1249500
PRSS56chr22q37.1Microphthalmia isolated 6613517
PRXchr1919q13.1-q13.2Charcot-Marie-Tooth disease type 4F614895
PRXchr1919q13.1-q13.2Dejerine-Sottas disease145900
PSAPchr1010q22.1Krabbe disease atypical611722
PSAPchr1010q22.1Combined SAP deficiency611721
PSAPchr1010q22.1Metachromatic leukodystrophy due to SAP-b
deficiency
249900
PSAT1chr99q21.31Neu-Laxova syndrome 2616038
PSAT1chr99q21.31Phosphoserine aminotransferase deficiency610992
PSMB8chr66p21.3Proteasome-associated autoinflammatory syndrome 1
and digenic forms
256040
PSMB9chr66p21.3Proteasome-associated autoinflammatory syndrome 3
digenic
617591
PSMC3IPchr1717q21.2Ovarian dysgenesis 3614324
PSPHchr77p11.2Phosphoserine phosphatase deficiency614023
PTCHD1chrXXp22.11Autism susceptibility to X-linked 4300830
PTF1Achr1010p12.3Pancreatic and cerebellar agenesis609069
PTF1Achr1010p12.3Pancreatic agenesis 2615935
PTGER2chr1414q22Asthma aspirin-induced susceptibility to208550
PTHchr1111p15.3-p15.1Hypoparathyroidism familial isolated 1146200
PTH1Rchr33p22-p21.1Eiken syndrome600002
PTH1Rchr33p22-p21.1Chondrodysplasia Blomstrand type215045
PTPN14chr11q32Choanal atresia and lymphedema613611
PTPN22chr11p13Diabetes type 1 susceptibility to222100
PTPN23chr33p21.3Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity618890
PTPRCchr11q31-q32Severe combined immunodeficiency T cell-negative B- cell/natural killer-cell positive608971
PTPRFchr11p32Breasts and/or nipples aplasia or hypoplasia of 2616001
PTPROchr1212p13-p12Nephrotic syndrome type 6614196
PTPRQchr1212q21.2Deafness autosomal recessive 84A613391
PTRH2chr1717q23.1Infantile-onset multisystem neurologic endocrine and pancreatic disease616263
PTSchr1111q22.3-q23.3Hyperphenylalaninemia BH4-deficient A261640
PUS1chr1212q24.33Myopathy lactic acidosis and sideroblastic anemia 1600462
PXDNchr22p25.3Anterior segment dysgenesis 7 with sclerocornea269400
PYCR1chr1717q25.3Cutis laxa autosomal recessive type IIB612940
PYCR2chr11q42.13Leukodystrophy hypomyelinating 10616420
PYGLchr1414q22.1Glycogen storage disease VI232700
PYGMchr1111q13McArdle disease232600
QDPRchr44p15.31Hyperphenylalaninemia BH4-deficient C261630
RAB18chr1010p12.1Warburg micro syndrome 3614222
RAB23chr66p11Carpenter syndrome201000
RAB27Achr1515q21Griscelli syndrome type 2607624
RAB28chr44p15.33Cone-rod dystrophy 18615374
RAB33Bchr44q31.1Smith-McCort dysplasia 2615222
RAB39BchrXXq28Waisman syndrome311510
RAB39BchrXXq28Mental retardation X-linked 72300271
RAB3GAP1chr22q21.3Warburg micro syndrome 1600118
RAB3GAP2chr11q41Warburg micro syndrome 2614225
RAB3GAP2chr11q41Martsolf syndrome212720
RAD21chr88q24Mungan syndrome611376
RAD51Cchr1717q22Fanconi anemia complementation group O613390
RAG1chr1111p13Omenn syndrome603554
RAG1chr1111p13Severe combined immunodeficiency B cell-negative601457
RAG1chr1111p13Combined cellular and humoral immune defects with granulomas233650
RAG2chr1111p13Severe combined immunodeficiency B cell-negative601457
RAG2chr1111p13Combined cellular and humoral immune defects with granulomas233650
RAG2chr1111p13Omenn syndrome603554
RALGAPA1chr1414q13.2Neurodevelopmental disorder with hypotonia neonatal respiratory insufficiency and thermodysregulation618797
RAPSNchr1111p11.2-p11.1Fetal akinesia deformation sequence 2618388
RAPSNchr1111p11.2-p11.1Myasthenic syndrome congenital 11 associated with acetylcholine receptor deficiency616326
RARBchr33p24Microphthalmia syndromic 12615524
RARS2chr66q16.1Pontocerebellar hypoplasia type 6611523
RASGRP1chr1515q15Immunodeficiency 64618534
RASGRP2chr1111q13Bleeding disorder platelet-type 18615888
RAXchr1818q21.3Microphthalmia isolated 3611038
RBBP8chr1818q11.2Jawad syndrome251255
RBBP8chr1818q11.2Seckel syndrome 2606744
RBCK1chr2020p13Polyglucosan body myopathy 1 with or without
immunodeficiency
615895
RBM10chrXXp11.23TARP syndrome311900
RBM28chr77q32.1Alopecia neurologic defects and endocrinopathy syndrome612079
RBM8Achr11q12Thrombocytopenia-absent radius syndrome274000
RBP3chr1010q11.2Retinitis pigmentosa 66615233
RBP4chr1010q24Retinal dystrophy iris coloboma and comedogenic
acne syndrome
615147
RCBTB1chr1313q14Retinal dystrophy with or without extraocular
anomalies
617175
RD3chr11q32.3Leber congenital amaurosis 12610612
RDH11chr1414q23.3Retinal dystrophy juvenile cataracts and short stature
syndrome
616108
RDH12chr1414q23.3Leber congenital amaurosis 13612712
RDH5chr1212q13-q14Fundus albipunctatus136880
RDXchr1111q23Deafness autosomal recessive 24611022
RECQL4chr88q24.3RAPADILINO syndrome266280
RECQL4chr88q24.3Baller-Gerold syndrome218600
RECQL4chr88q24.3Rothmund-Thomson syndrome type 2268400
REEP2chr55q31Spastic paraplegia 72 autosomal dominant615625
REEP2chr55q31Spastic paraplegia 72 autosomal recessive615625
RELNchr77q22Lissencephaly 2 (Norman-Roberts type)257320
RENchr11q32Renal tubular dysgenesis267430
RETREG1chr55p15.1Neuropathy hereditary sensory and autonomic type IIB613115
RFC1chr44p14-p13Cerebellar ataxia neuropathy and vestibular areflexia syndrome614575
RFT1chr33p21.1Congenital disorder of glycosylation type In612015
RFX5chr11q21.1-q21.3Bare lymphocyte syndrome type II complementation
group C
209920
RFX5chr11q21.1-q21.3Bare lymphocyte syndrome type II complementation
group E
209920
RFX6chr66q22.2Mitchell-Riley syndrome615710
RFXANKchr1919p12MHC class II deficiency complementation group B209920
RFXAPchr1313q14Bare lymphocyte syndrome type II complementation
group D
209920
RHOchr33q21-q24Retinitis punctata albescens136880
RHOchr33q21-q24Retinitis pigmentosa 4 autosomal dominant or recessive613731
RHOHchr44p13Epidermodysplasia verruciformis susceptibility to 4618307
RIC1chr99p24.1CATIFA syndrome618761
RIMS2chr88q22.3Cone-rod synaptic disorder syndrome congenital
nonprogressive
618970
RIN2chr2020p11.22Macrocephaly alopecia cutis laxa and scoliosis613075
RINT1chr77q22.3Infantile liver failure syndrome 3618641
RIPK4chr2121q22.3Popliteal pterygium syndrome Bartsocas-Papas type263650
RIPK4chr2121q22.3CHAND syndrome214350
RIPOR2chr66p22.3-p21.32Deafness autosomal recessive 104616515
RLBP1chr1515q26Retinitis punctata albescens136880
RLBP1chr1515q26Bothnia retinal dystrophy607475
RLBP1chr1515q26Fundus albipunctatus136880
RMND1chr66q25Combined oxidative phosphorylation deficiency 11614922
RMRPchr99p21-p12Anauxetic dysplasia 1607095
RMRPchr99p21-p12Cartilage-hair hypoplasia250250
RMRPchr99p21-p12Metaphyseal dysplasia without hypotrichosis250460
RNASEH2Achr1919p13.13Aicardi-Goutieres syndrome 4610333
RNASEH2Bchr1313q14.1Aicardi-Goutieres syndrome 2610181
RNASEH2Cchr1111q13.2Aicardi-Goutieres syndrome 3610329
RNASET2chr66q27Leukoencephalopathy cystic without megalencephaly612951
RNF168chr33q29RIDDLE syndrome611943
RNF216chr77p22Cerebellar ataxia and hypogonadotropic
hypogonadism
212840
RNU4ATACchr22q14.2Microcephalic osteodysplastic primordial dwarfism
type I
210710
RNU4ATACchr22q14.2Roifman syndrome616651
ROBO3chr1111q23-q25Gaze palsy familial horizontal with progressive scoliosis 1607313
ROGDIchr1616p13.3Kohlschutter-Tonz syndrome226750
ROM1chr1111q13Retinitis pigmentosa 7 digenic form608133
ROR2chr99q22Brachydactyly type B1113000
ROR2chr99q22Robinow syndrome autosomal recessive268310
RORCchr11q21Immunodeficiency 42616622
RP1chr88q11-q13Retinitis pigmentosa 1180100
RP1L1chr88p23Retinitis pigmentosa 88618826
RP1L1chr88p23Occult macular dystrophy613587
RPE65chr11p31Leber congenital amaurosis 2204100
RPE65chr11p31Retinitis pigmentosa 87 with choroidal involvement618697
RPE65chr11p31Retinitis pigmentosa 20613794
RPGRchrXXp11.4Cone-rod dystrophy X-linked 1304020
RPGRchrXXp11.4Macular degeneration X-linked atrophic300834
RPGRIP1chr1414q11Leber congenital amaurosis 6613826
RPGRIP1Lchr1616q12.2COACH syndrome216360
RPGRIP1Lchr1616q12.2Meckel syndrome 5611561
RPGRIP1Lchr1616q12.2Joubert syndrome 7611560
RPIAchr22p11.2Ribose 5-phosphate isomerase deficiency608611
RPL10chrXXq28Mental retardation X-linked syndromic 35300998
RRM2Bchr88q23.1Mitochondrial DNA depletion syndrome 8A
(encephalomyopathic type with renal tubulopathy)
612075
RRM2Bchr88q23.1Mitochondrial DNA depletion syndrome 8B (MNGIE
type)
612075
RS1chrXXp22.2-p22.1Retinoschisis312700
RSPH1chr2121q22.3Ciliary dyskinesia primary 24615481
RSPO1chr11p34.3Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal610644
RSPO1chr11p34.3Palmoplantar hyperkeratosis and true hermaphroditism610644
RSPO4chr2020p13Anonychia congenita206800
RSRC1chr33q25.32Intellectual developmental disorder autosomal
recessive 70
618402
RTEL1chr2020q13.3Dyskeratosis congenita autosomal recessive 5615190
RTEL1chr2020q13.3Dyskeratosis congenita autosomal dominant 4615190
RTTNchr1818q22.2Microcephaly short stature and polymicrogyria with seizures614833
RUBCNchr33q29Spinocerebellar ataxia autosomal recessive 15615705
RYR1chr1919q13.1Central core disease117000
RYR1chr1919q13.1Minicore myopathy with external ophthalmoplegia255320
RYR1chr1919q13.1Neuromuscular disease congenital with uniform type 1 fiber117000
SACSchr1313q12Spastic ataxia Charlevoix-Saguenay type270550
SAGchr22q37.1Oguchi disease-1258100
SALL2chr1414q11.1-q12Coloboma ocular autosomal recessive216820
SAMD9chr77q21Tumoral calcinosis familial normophosphatemic610455
SAMHD1chr2020q11.2Aicardi-Goutieres syndrome 5612952
SAR1Bchr55q31.1Chylomicron retention disease246700
SARDHchr99q34.2Sarcosinemia268900
SARS2chr1919q13.2Hyperuricemia pulmonary hypertension renal failure
and alkalosis
613845
SASH1chr66q24.3Cancer alopecia pigment dyscrasia onychodystrophy
and keratoderma
618373
SASS6chr11p21.2Microcephaly 14 primary autosomal recessive616402
SBDSchr77q11Shwachman-Diamond syndrome260400
SBF1chr2222q13.33Charcot-Marie-Tooth disease type 4B3615284
SBF2chr1111p15Charcot-Marie-Tooth disease type 4B2604563
SC5Dchr1111q23.3Lathosterolosis607330
SCAPERchr1515q24Intellectual developmental disorder and retinitis
pigmentosa
618195
SCARB2chr44q13-q21Epilepsy progressive myoclonic 4 with or without renal
failure
254900
SCARF2chr2222q11Van den Ende-Gupta syndrome600920
SCN1Bchr1919q13.1Epileptic encephalopathy early infantile 52617350
SCN4Achr1717q23.1-q25.3Myasthenic syndrome congenital 16614198
SCN5Achr33p21Sick sinus syndrome 1608567
SCN5Achr33p21Sudden infant death syndrome susceptibility to272120
SCN9Achr22q24Neuropathy hereditary sensory and autonomic type IID243000
SCN9Achr22q24Insensitivity to pain congenital243000
SCNN1Achr1212p13Pseudohypoaldosteronism type I264350
SCNN1Bchr1616p13-p12Pseudohypoaldosteronism type I264350
SCNN1Gchr1616p13-p12Pseudohypoaldosteronism type I264350
SCO1chr1717p13-p12Mitochondrial complex IV deficiency220110
SCO2chr2222q13Cardioencephalomyopathy fatal infantile due to
cytochrome c oxidase deficiency 1
604377
SCP2chr11p32Leukoencephalopathy with dystonia and motor
neuropathy
613724
SDC3chr11pter-p22.3Obesity association with601665
SDCCAG8chr11q43-q44Bardet-Biedl syndrome 16615993
SDHAchr55p15Cardiomyopathy dilated 1GG613642
SDHAchr55p15Leigh syndrome256000
SDHAchr55p15Mitochondrial respiratory chain complex II deficiency252011
SDHAF1chr1919q12-q13.2Mitochondrial complex II deficiency252011
SDHDchr1111q23Mitochondrial complex II deficiency252011
SEC23Achr1414q21.1Craniolenticulosutural dysplasia607812
SEC23Bchr2020p11.2Dyserythropoietic anemia congenital type II224100
SEC24Dchr44q26Cole-Carpenter syndrome 2616294
SECISBP2chr99q22.2Thyroid hormone metabolism abnormal609698
SELENONchr11p36-p35Muscular dystrophy rigid spine 1602771
SELENONchr11p36-p35Myopathy congenital with fiber-type disproportion255310
SEMA4Achr11q22Cone-rod dystrophy 10610283
SEMA4Achr11q22Retinitis pigmentosa 35610282
SEPSECSchr44p15.2Pontocerebellar hypoplasia type 2D613811
SERAC1chr66q25.33-methylglutaconic aciduria with deafness encephalopathy and Leigh-like syndrome614739
SERPINA1chr1414q32.1Hemorrhagic diathesis due to antithrombin Pittsburgh613490
SERPINA1chr1414q32.1Emphysema-cirrhosis due to AAT deficiency613490
SERPINA1chr1414q32.1Emphysema due to AAT deficiency613490
SERPINA6chr1414q32.1Corticosteroid-binding globulin deficiency611489
SERPINB6chr66p25Deafness autosomal recessive 91613453
SERPINB7chr1818q21.3Palmoplantar keratoderma Nagashima type615598
SERPINC1chr11q23-q25Thrombophilia due to antithrombin III deficiency613118
SERPINE1chr77q21.3-q22Plasminogen activator inhibitor-1 deficiency613329
SERPINF1chr1717p13.3Osteogenesis imperfecta type VI613982
SERPINF2chr1717pter-p12Alpha-2-plasmin inhibitor deficiency262850
SERPING1chr1111q11-q13.1Angioedema hereditary types I and II106100
SERPINH1chr1111q13.5Osteogenesis imperfecta type X613848
SERPINH1chr1111q13.5Preterm premature rupture of the membranes
susceptibility to
610504
SETXchr99q34Spinocerebellar ataxia autosomal recessive with axonal
neuropathy 2
606002
SFTPBchr22p12-p11.2Surfactant metabolism dysfunction pulmonary 1265120
SFXN4chr1010q26.11Combined oxidative phosphorylation deficiency 18615578
SGCAchr1717q12-q21.33Muscular dystrophy limb-girdle autosomal recessive 3608099
SGCBchr44q12Muscular dystrophy limb-girdle autosomal recessive 4604286
SGCDchr55q33Muscular dystrophy limb-girdle autosomal recessive 6601287
SGCGchr1313q12Muscular dystrophy limb-girdle autosomal recessive 5253700
SGO1chr33p24.3Chronic atrial and intestinal dysrhythmia616201
SGSHchr1717q25.3Mucopolysaccharidosis type IIIA (Sanfilippo A)252900
SH2D1AchrXXq25Lymphoproliferative syndrome X-linked 1308240
SH3PXD2Bchr55q35.1Frank-ter Haar syndrome249420
SH3TC2chr55q32Charcot-Marie-Tooth disease type 4C601596
SHOXchrXXpter-p22.32Langer mesomelic dysplasia249700
SIchr33q25-q26Sucrase-isomaltase deficiency congenital222900
SIGMAR1chr99p13Amyotrophic lateral sclerosis 16 juvenile614373
SIGMAR1chr99p13Spinal muscular atrophy distal autosomal recessive 2605726
SIK3chr1111q23.3Spondyloepimetaphyseal dysplasia Krakow type618162
SIL1chr55q31Marinesco-Sjogren syndrome248800
SIX6chr1414q23Optic disc anomalies with retinal and/or macular
dystrophy
212550
SKIV2Lchr66p21Trichohepatoenteric syndrome 2614602
SLC10A2chr1313q33Bile acid malabsorption primary613291
SLC11A2chr1212q13Anemia hypochromic microcytic with iron overload 1206100
SLC12A1chr1515q15-q21.1Bartter syndrome type 1601678
SLC12A3chr1616q13Gitelman syndrome263800
SLC12A5chr2020q12-q13.1Epileptic encephalopathy early infantile 34616645
SLC12A6chr1515q13-q14Agenesis of the corpus callosum with peripheral neuropathy218000
SLC13A5chr1717p13-p12Epileptic encephalopathy early infantile 25615905
SLC16A1chr11p13.2-p12Monocarboxylate transporter 1 deficiency616095
SLC17A5chr66q14-q15Sialic acid storage disorder infantile269920
SLC17A5chr66q14-q15Salla disease604369
SLC19A2chr11q23.3Thiamine-responsive megaloblastic anemia syndrome249270
SLC19A3chr22q36.3Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)607483
SLC1A1chr99p24Dicarboxylic aminoaciduria222730
SLC22A12chr1111q13Hypouricemia renal220150
SLC22A5chr55q31.1Carnitine deficiency systemic primary212140
SLC24A1chr1515q22Night blindness congenital stationary (complete) 1D
autosomal recessive
613830
SLC24A4chr1414q32Skin/hair/eye pigmentation 6 blue/green eyes210750
SLC24A4chr1414q32Amelogenesis imperfecta type IIA5615887
SLC24A4chr1414q32Skin/hair/eye pigmentation 6 blond/brown hair210750
SLC24A5chr1515q21.1Skin/hair/eye pigmentation 4 fair/dark skin113750
SLC24A5chr1515q21.1Albinism oculocutaneous type VI113750
SLC25A1chr2222q11Myasthenic syndrome congenital 23 presynaptic618197
SLC25A1chr2222q11Combined D-2- and L-2-hydroxyglutaric aciduria615182
SLC25A12chr22q24Epileptic encephalopathy early infantile 39612949
SLC25A13chr77q21.3Citrullinemia adult-onset type II603471
SLC25A13chr77q21.3Citrullinemia type II neonatal-onset605814
SLC25A15chr1313q14Hyperornithinemia-hyperammonemia-
homocitrullinemia syndrome
238970
SLC25A19chr1717q25.3Thiamine metabolism dysfunction syndrome 4
(progressive polyneuropathy type)
613710
SLC25A19chr1717q25.3Microcephaly Amish type607196
SLC25A20chr33p21.31Carnitine-acylcarnitine translocase deficiency212138
SLC25A21chr1414q11.2Mitochondrial DNA depletion syndrome 18618811
SLC25A22chr1111p15.5Epileptic encephalopathy early infantile 3609304
SLC25A38chr33p22.1Anemia sideroblastic 2 pyridoxine-refractory205950
SLC25A4chr44q35Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR615418
SLC25A46chr55q22.1Neuropathy hereditary motor and sensory type VIB616505
SLC26A1chr44p16.3Nephrolithiasis calcium oxalate167030
SLC26A2chr55q32-q33.1De la Chapelle dysplasia256050
SLC26A2chr55q32-q33.1Atelosteogenesis type II256050
SLC26A2chr55q32-q33.1Diastrophic dysplasia broad bone-platyspondylic variant222600
SLC26A2chr55q32-q33.1Diastrophic dysplasia222600
SLC26A2chr55q32-q33.1Achondrogenesis Ib600972
SLC26A2chr55q32-q33.1Epiphyseal dysplasia multiple 4226900
SLC26A3chr77q22-q31.1Diarrhea 1 secretory chloride congenital214700
SLC26A4chr77q31Deafness autosomal recessive 4 with enlarged
vestibular aqueduct
600791
SLC26A4chr77q31Pendred syndrome274600
SLC26A5chr77q22.1Deafness autosomal recessive 61613865
SLC28A1chr1515q25-q26Uridine-cytidineuria618477
SLC29A3chr1010q22.1Histiocytosis-lymphadenopathy plus syndrome602782
SLC2A1chr11p34.2GLUT1 deficiency syndrome 1 infantile onset severe606777
SLC2A10chr2020q13.1Arterial tortuosity syndrome208050
SLC2A2chr33q26.1-q26.3Fanconi-Bickel syndrome227810
SLC2A9chr44p16-p15.3Uric acid concentration serum QTL 2612076
SLC2A9chr44p16-p15.3Hypouricemia renal 2612076
SLC30A10chr11q41Hypermanganesemia with dystonia 1613280
SLC33A1chr33q25.31Congenital cataracts hearing loss and
neurodegeneration
614482
SLC34A1chr55q35Hypercalcemia infantile 2616963
SLC34A1chr55q35Fanconi renotubular syndrome 2613388
SLC34A2chr44p15.31-p15.2Pulmonary alveolar microlithiasis265100
SLC34A3chr99q34Hypophosphatemic rickets with hypercalciuria241530
SLC35A1chr66q15Congenital disorder of glycosylation type IIf603585
SLC35A3chr11p21Arthrogryposis mental retardation and seizures615553
SLC35C1chr1111p11.2Congenital disorder of glycosylation type IIc266265
SLC35D1chr11p32-p31Schneckenbecken dysplasia269250
SLC36A2chr55q33.1Iminoglycinuria digenic242600
SLC36A2chr55q33.1Hyperglycinuria138500
SLC37A4chr1111q23Glycogen storage disease Ib232220
SLC38A8chr1616q23.3Foveal hypoplasia 2 with or without optic nerve misrouting and/or anterior segment dysgenesis609218
SLC39A13chr1111p11.2Ehlers-Danlos syndrome spondylodysplastic type 3612350
SLC39A4chr88q24.3Acrodermatitis enteropathica201100
SLC3A1chr22p16.3Cystinuria220100
SLC45A2chr55p13.3Skin/hair/eye pigmentation 5 dark/fair skin227240
SLC45A2chr55p13.3Skin/hair/eye pigmentation 5 black/nonblack hair227240
SLC45A2chr55p13.3Albinism oculocutaneous type IV606574
SLC45A2chr55p13.3Skin/hair/eye pigmentation 5 dark/light eyes227240
SLC46A1chr1717q11.1Folate malabsorption hereditary229050
SLC4A1chr1717q21-q22Renal tubular acidosis distal AR611590
SLC4A11chr2020p13-p12Corneal endothelial dystrophy autosomal recessive217700
SLC4A11chr2020p13-p12Corneal endothelial dystrophy and perceptive deafness217400
SLC4A4chr44q21Renal tubular acidosis proximal with ocular
abnormalities
604278
SLC52A2chr88q24.3Brown-Vialetto-Van Laere syndrome 2614707
SLC52A3chr2020p13Brown-Vialetto-Van Laere syndrome 1211530
SLC52A3chr2020p13Fazio-Londe disease211500
SLC5A1chr2222q13.1Glucose/galactose malabsorption606824
SLC5A2chr1616p11.2Renal glucosuria233100
SLC5A5chr1919p13.2-p12Thyroid dyshormonogenesis 1274400
SLC5A7chr22q12.3Myasthenic syndrome congenital 20 presynaptic617143
SLC6A17chr11p13.3Mental retardation autosomal recessive 48616269
SLC6A19chr55p15.33Iminoglycinuria digenic242600
SLC6A19chr55p15.33Hartnup disorder234500
SLC6A20chr33p21.3Iminoglycinuria digenic242600
SLC6A3chr55p15.3Parkinsonism-dystonia infantile 1613135
SLC6A5chr1111p15.2-p15.1Hyperekplexia 3614618
SLC6A8chrXXq28Cerebral creatine deficiency syndrome 1300352
SLC6A9chr11p33Glycine encephalopathy with normal serum glycine617301
SLC7A14chr33q26.2Retinitis pigmentosa 68615725
SLC7A7chr1414q11.2Lysinuric protein intolerance222700
SLC7A9chr1919q13.1Cystinuria220100
SLC9A1chr11p36.1-p35Lichtenstein-Knorr syndrome616291
SLC9A3chr55p15.3Diarrhea 8 secretory sodium congenital616868
SLCO1B1chr1212p12Hyperbilirubinemia Rotor type digenic237450
SLCO1B3chr1212p12.2Hyperbilirubinemia Rotor type digenic237450
SLCO2A1chr33q21Hypertrophic osteoarthropathy primary autosomal
recessive 2
614441
SLITRK6chr1313q31Deafness and myopia221200
SLURP1chr88qterMeleda disease248300
SLX4chr1616p13.3Fanconi anemia complementation group P613951
SMARCAL1chr22q34-q36Schimke immunoosseous dysplasia242900
SMIM1chr11p36Blood group Vel system615264
SMN1chr55q12.2-q13.3Spinal muscular atrophy-2253550
SMN1chr55q12.2-q13.3Spinal muscular atrophy-3253400
SMN1chr55q12.2-q13.3Spinal muscular atrophy-1253300
SMN1chr55q12.2-q13.3Spinal muscular atrophy-4271150
SMN2chr55q12.2-q13.3Spinal muscular atrophy type III modifier of253400
SMOchr77q31-q32Pallister-Hall-like syndrome241800
SMOC1chr1414q24.1Microphthalmia with limb anomalies206920
SMOC2chr66q27Dentin dysplasia type I with microdontia and misshapen teeth125400
SMPD1chr1111p15.4-p15.1Niemann-Pick disease type A257200
SMPD1chr1111p15.4-p15.1Niemann-Pick disease type B607616
SMSchrXXp22.1Mental retardation X-linked Snyder-Robinson type309583
SNAI2chr88q11Waardenburg syndrome type 2D608890
SNAP29chr2222q11.2Cerebral dysgenesis neuropathy ichthyosis and
palmoplantar keratoderma syndrome
609528
SNIP1chr11p34.3Psychomotor retardation epilepsy and craniofacial
dysmorphism
614501
SNX10chr77p15.2Osteopetrosis autosomal recessive 8615085
SNX14chr66q14.3Spinocerebellar ataxia autosomal recessive 20616354
SOBPchr66q21Mental retardation anterior maxillary protrusion and strabismus613671
SOD1chr2121q22.1Spastic tetraplegia and axial hypotonia progressive618598
SOD1chr2121q22.1Amyotrophic lateral sclerosis 1105400
SOHLH1chr99q34.3Ovarian dysgenesis 5617690
SORDchr1515q15.3Sorbitol dehydrogenase deficiency with peripheral
neuropathy
618912
SOSTchr1717q12-q21Sclerosteosis 1269500
SOSTchr1717q12-q21Van Buchem disease239100
SOX18chr2020q13.33Hypotrichosis-lymphedema-telangiectasia syndrome607823
SP110chr22q37.1Hepatic venoocclusive disease with immunodeficiency235550
SP7chr1212q13.13Osteogenesis imperfecta type XII613849
SPAG1chr88q22Ciliary dyskinesia primary 28615505
SPARTchr1313q12.3Troyer syndrome275900
SPATA16chr33q26.3Spermatogenic failure 6102530
SPATA7chr1414q31.3Retinitis pigmentosa juvenile autosomal recessive604232
SPEF2chr55p13.2Spermatogenic failure 43618751
SPEGchr22q35Centronuclear myopathy 5615959
SPG11chr1515q21.1Charcot-Marie-Tooth disease axonal type 2X616668
SPG11chr1515q21.1Spastic paraplegia 11 autosomal recessive604360
SPG11chr1515q21.1Amyotrophic lateral sclerosis 5 juvenile602099
SPG21chr1515q21-q22Mast syndrome248900
SPG7chr1616q24.3Spastic paraplegia 7 autosomal recessive607259
SPINK1chr55q32Fibrocalculous pancreatic diabetes susceptibility to608189
SPINK1chr55q32Tropical calcific pancreatitis608189
SPINK5chr55q32Netherton syndrome256500
SPINT2chr1919q13.1Diarrhea 3 secretory sodium congenital syndromic270420
SPRchr22p14-p12Dystonia dopa-responsive due to sepiapterin
reductase deficiency
612716
SPRTNchr11q42.2Ruijs-Aalfs syndrome616200
SPTA1chr11q21Pyropoikilocytosis266140
SPTA1chr11q21Spherocytosis type 3270970
SPTBN2chr1111q13Spinocerebellar ataxia autosomal recessive 14615386
SQSTM1chr55q35Neurodegeneration with ataxia dystonia and gaze
palsy childhood-onset
617145
SRD5A2chr22p23Pseudovaginal perineoscrotal hypospadias264600
SRD5A3chr44q12Kahrizi syndrome612713
SRD5A3chr44q12Congenital disorder of glycosylation type Iq612379
SSR4chrXXq28Congenital disorder of glycosylation type Iy300934
ST14chr1111q24-q25Ichthyosis congenital autosomal recessive 11602400
ST3GAL3chr11p34.1Mental retardation autosomal recessive 12611090
ST3GAL3chr11p34.1Epileptic encephalopathy early infantile 15615006
ST3GAL5chr22p11.2Salt and pepper developmental regression syndrome609056
STAC3chr1212q13.3Myopathy congenital Baily-Bloch255995
STAG2chrXXq25Mullegama-Klein-Martinez syndrome301022
STAG2chrXXq25Holoprosencephaly 13 X-linked301043
STAG3chr77q22Premature ovarian failure 8615723
STAMBPchr22p13.1Microcephaly-capillary malformation syndrome614261
STARchr88p11.2Lipoid adrenal hyperplasia201710
STAT1chr22q32.2-q32.3Immunodeficiency 31B mycobacterial and viral
infections autosomal recessive
613796
STAT2chr1212q13.2Immunodeficiency 44616636
STAT2chr1212q13.2Pseudo-TORCH syndrome 3618886
STILchr11p33Microcephaly 7 primary autosomal recessive612703
STIM1chr1111p15.5Immunodeficiency 10612783
STRA6chr1515q24.1Microphthalmia isolated with coloboma 8601186
STRA6chr1515q24.1Microphthalmia syndromic 9601186
STRADAchr1717q23.3Polyhydramnios megalencephaly and symptomatic
epilepsy
611087
STRCchr1515q15Deafness autosomal recessive 16603720
STSchrXXp22.32Ichthyosis X-linked308100
STT3Achr1111q23.3Congenital disorder of glycosylation type Iw615596
STT3Bchr33p23Congenital disorder of glycosylation type Ix615597
STUB1chr1616p13.3Spinocerebellar ataxia autosomal recessive 16615768
STX11chr66q24Hemophagocytic lymphohistiocytosis familial 4603552
SUCLA2chr1313q14.2Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073
SUCLG1chr22p11.2Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic
aciduria)
245400
SUFUchr1010q24-q25Medulloblastoma desmoplastic155255
SUFUchr1010q24-q25Joubert syndrome 32617757
SUGCTchr77p14Glutaric aciduria III231690
SULT2B1chr1919q13.3Ichthyosis congenital autosomal recessive 14617571
SUMF1chr33p26Multiple sulfatase deficiency272200
SUOXchr12Chr.12Sulfite oxidase deficiency272300
SURF1chr99q34Leigh syndrome due to COX IV deficiency256000
SURF1chr99q34Charcot-Marie-Tooth disease type 4K616684
SYN1chrXXp11.4-p11.2Epilepsy X-linked with variable learning disabilities and behavior disorders300491
SYNE1chr66q25Arthrogryposis multiplex congenita 3 myogenic type618484
SYNE1chr66q25Spinocerebellar ataxia autosomal recessive 8610743
SYNE4chr1919q13.12Deafness autosomal recessive 76615540
SYNJ1chr2121q22.2Epileptic encephalopathy early infantile 53617389
SYNJ1chr2121q22.2Parkinson disease 20 early-onset615530
SYPchrXXp11.23-
p11.22
Mental retardation X-linked 96300802
SYT14chr11q32.2Spinocerebellar ataxia autosomal recessive 11614229
SZT2chr11p34.2Epileptic encephalopathy early infantile 18615476
TAC3chr1212q13-q21Hypogonadotropic hypogonadism 10 with or without
anosmia
614839
TACO1chr1717q22-q24.2Mitochondrial complex IV deficiency220110
TACR3chr44q25Hypogonadotropic hypogonadism 11 with or without
anosmia
614840
TACSTD2chr11p32Corneal dystrophy gelatinous drop-like204870
TAF1chrXXq13Dystonia-Parkinsonism X-linked314250
TAF1chrXXq13Mental retardation X-linked syndromic 33300966
TAF2chr88q24.12Mental retardation autosomal recessive 40615599
TAF4Bchr1818q11.2Spermatogenic failure 13615841
TAF6chr77q22.1Alazami-Yuan syndrome617126
TALDO1chr1111p15.5-p15.4Transaldolase deficiency606003
TAP1chr66p21.3Bare lymphocyte syndrome type I604571
TAP2chr66p21.3Bare lymphocyte syndrome type I due to TAP2 deficiency604571
TAPBPchr66p21.3Bare lymphocyte syndrome type I604571
TARS2chr11q21.2Combined oxidative phosphorylation deficiency 21615918
TATchr1616q22.1-q22.3Tyrosinemia type II276600
TAZchrXXq28Barth syndrome302060
TBC1D20chr2020p13Warburg micro syndrome 4615663
TBC1D23chr33q12.1-q12.2Pontocerebellar hypoplasia type 11617695
TBC1D24chr1616p13.3Epilepsy rolandic with proxysmal exercise-induce dystonia and writer’s cramp608105
TBC1D24chr1616p13.3DOORS syndrome220500
TBC1D24chr1616p13.3Epileptic encephalopathy early infantile 16615338
TBC1D24chr1616p13.3Myoclonic epilepsy infantile familial605021
TBC1D24chr1616p13.3Deafness  autosomal recessive 86614617
TBC1D7chr66p24.1Macrocephaly/megalencephaly syndrome autosomal
recessive
248000
TBCEchr11q42-q43Kenny-Caffey syndrome type 1244460
TBCEchr11q42-q43Hypoparathyroidism-retardation-dysmorphism syndrome241410
TBCEchr11q42-q43Encephalopathy progressive with amyotrophy and
optic atrophy
617207
TBCKchr44q24Hypotonia infantile with psychomotor retardation and
characteristic facies 3
616900
TBX15chr11p13Cousin syndrome260660
TBX19chr11q23-q24Adrenocorticotropic hormone deficiency201400
TBX21chr1717q21.3Asthma aspirin-induced susceptibility to208550
TBX21chr1717q21.3Asthma and nasal polyps208550
TBX4chr1717q21-q22Amelia posterior with pelvic and pulmonary hypoplasia
syndrome
601360
TBX4chr1717q21-q22Ischiocoxopodopatellar syndrome with or without
pulmonary arterial hypertension
147891
TBX6chr1616p11.2Spondylocostal dysostosis 5122600
TBXAS1chr77q34Ghosal hematodiaphyseal syndrome231095
TCAPchr1717q12Muscular dystrophy limb-girdle autosomal recessive 7601954
TCIRG1chr1111q13.4-q13.5Osteopetrosis autosomal recessive 1259700
TCN2chr2222q11.2-qterTranscobalamin II deficiency275350
TCTN1chr1212q24.1Joubert syndrome 13614173
TCTN2chr1212q24.31Joubert syndrome 24616654
TCTN2chr1212q24.31Meckel syndrome 8613885
TCTN3chr1010q24.1Orofaciodigital syndrome IV258860
TCTN3chr1010q24.1Joubert syndrome 18614815
TDO2chr44q31-q32Hypertryptophanemia600627
TDP1chr1414q31-q32Spinocerebellar ataxia autosomal recessive with axonal
neuropathy 1
607250
TDP2chr66p22.3-p22.1Spinocerebellar ataxia autosomal recessive 23616949
TDRD7chr99q22.33Cataract 36613887
TECPR2chr1414q32.31Spastic paraplegia 49 autosomal recessive615031
TECRchr1919p13.12Mental retardation autosomal recessive 14614020
TECTAchr1111q22-q24Deafness autosomal recessive 21603629
TELO2chr1616p13.3You-Hoover-Fong syndrome616954
TENM3chr44q35.1Microphthalmia syndromic 15615145
TENM3chr44q35.1Microphthalmia isolated with coloboma 9615145
TERTchr55p15.33Dyskeratosis congenita autosomal recessive 4613989
TERTchr55p15.33Dyskeratosis congenita autosomal dominant 2613989
TEX14chr1717q22Spermatogenic failure 23617707
TFchr33q21Atransferrinemia209300
TFAMchr1010q21Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)617156
TFGchr33q11-q12Spastic paraplegia 57 autosomal recessive615658
TFR2chr77q22Hemochromatosis type 3604250
TFRCchr33q29Immunodeficiency 46616740
TGchr88q24.2-q24.3Thyroid dyshormonogenesis 3274700
TGDSchr1313q32.1Catel-Manzke syndrome616145
TGFB1chr1919q13.1Cystic fibrosis lung disease modifier of219700
TGFB1chr1919q13.1Inflammatory bowel disease immunodeficiency and
encephalopathy
618213
TGM1chr1414q11.2Ichthyosis congenital autosomal recessive 1242300
TGM5chr1515q15.2Peeling skin syndrome 2609796
THchr1111p15.5Segawa syndrome recessive605407
THOC2chrXXq25Mental retardation X-linked 12/35300957
THOC6chr1616p13.3Beaulieu-Boycott-Innes syndrome613680
THRBchr33p24.3Thyroid hormone resistance autosomal recessive274300
TIA1chr22p13Welander distal myopathy604454
TICAM1chr1919p13.3Encephalopathy acute infection-induced (herpes- specific) susceptibility to 6614850
TIMM8AchrXXq22Mohr-Tranebjaerg syndrome304700
TJP2chr99q12-q13Cholestasis progressive familial intrahepatic 4615878
TJP2chr99q12-q13Hypercholanemia familial607748
TK2chr1616q22Mitochondrial DNA depletion syndrome 2 (myopathic type)609560
TK2chr1616q22Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive 3617069
TLE6chr1919p13.3Preimplantation embryonic lethality616814
TLR3chr44q35Encephalopathy acute infection-induced (herpes-
specific) susceptibility to 2
613002
TMC1chr99q13-q21Deafness autosomal recessive 7600974
TMC6chr1717q25Epidermodysplasia verruciformis226400
TMC8chr1717q25Epidermodysplasia verruciformis 2618231
TMCO1chr11q24.1Craniofacial dysmorphism skeletal anomalies and
mental retardation syndrome
213980
TMEM126Achr1111q14.1-q21Optic atrophy 7612989
TMEM138chr1111q12.2Joubert syndrome 16614465
TMEM165chr44q12Congenital disorder of glycosylation type IIk614727
TMEM216chr1111q12.2Meckel syndrome 2603194
TMEM216chr1111q12.2Joubert syndrome 2608091
TMEM231chr1616q23.1Meckel syndrome 11615397
TMEM231chr1616q23.1Joubert syndrome 20614970
TMEM237chr22q33.2Joubert syndrome 14614424
TMEM67chr88q21.13-q22.1Meckel syndrome 3607361
TMEM67chr88q21.13-q22.1RHYNS syndrome602152
TMEM67chr88q21.13-q22.1Nephronophthisis 11613550
TMEM67chr88q21.13-q22.1Bardet-Biedl syndrome 14 modifier of615991
TMEM67chr88q21.13-q22.1COACH syndrome216360
TMEM67chr88q21.13-q22.1Joubert syndrome 6610688
TMEM70chr88q21.11Mitochondrial complex V (ATP synthase) deficiency nuclear type 2614052
TMIEchr33p21Deafness autosomal recessive 6600971
TMLHEchrXXq28Autism susceptibility to X-linked 6300872
TMPRSS15chr2121q21Enterokinase deficiency226200
TMPRSS3chr2121q22.3Deafness autosomal recessive 8/10601072
TMPRSS6chr2222q12-q13Iron-refractory iron deficiency anemia206200
TMTC3chr1212q21.32Lissencephaly 8617255
TNFRSF10Bchr88p22-p21Squamous cell carcinoma head and neck275355
TNFRSF11Achr1818q22.1Osteopetrosis autosomal recessive 7612301
TNFRSF11Bchr88q24Paget disease of bone 5 juvenile-onset239000
TNFRSF13Bchr1717p11.2Immunodeficiency common variable 2240500
TNFRSF13Cchr2222q13.1-
q13.31
Immunodeficiency common variable 4613494
TNFRSF4chr11p36Immunodeficiency 16615593
TNFSF11chr1313q14Osteopetrosis autosomal recessive 2259710
TNNI3chr1919q13.4Cardiomyopathy dilated 2A611880
TNNT1chr1919q13.4Nemaline myopathy 5 Amish type605355
TNXBchr66p21.3Ehlers-Danlos syndrome classic-like 1606408
TOP3Achr1717p12-p11.2Microcephaly growth restriction and increased sister chromatid exchange 2618097
TOP3Achr1717p12-p11.2Progressive external ophthalmoplegia with mitochondrial DNA deletions autosomal recessive 5618098
TOR1AIP1chr11q24Muscular dystrophy autosomal recessive with rigid spine and distal joint contractures617072
TP53RKchr2020q13.12Galloway-Mowat syndrome 4617730
TPI1chr1212p13Hemolytic anemia due to triosephosphate isomerase
deficiency
615512
TPK1chr77q34Thiamine metabolism dysfunction syndrome 5
(episodic encephalopathy type)
614458
TPM3chr11q22-q23CAP myopathy 1609284
TPM3chr11q22-q23Nemaline myopathy 1 autosomal dominant or recessive609284
TPM3chr11q22-q23Myopathy congenital with fiber-type disproportion255310
TPMTchr66p22.3Thiopurines poor metabolism of 1610460
TPOchr22p25Thyroid dyshormonogenesis 2A274500
TPP1chr1111p15.5Spinocerebellar ataxia autosomal recessive 7609270
TPP1chr1111p15.5Ceroid lipofuscinosis neuronal 2204500
TPRNchr99q34.3Deafness autosomal recessive 79613307
TRACchr1414q11.2Immunodeficiency 7 TCR-alpha/beta deficient615387
TRAF3IP1chr22q37.3Senior-Loken syndrome 9616629
TRAF3IP2chr66q21Candidiasis familial 8615527
TRAK1chr33p25.3-p24.1Epileptic encephalopathy early infantile 68618201
TRAPPC11chr44q35.1Muscular dystrophy limb-girdle autosomal recessive 18615356
TRAPPC2chrXXp22.2-p22.1Spondyloepiphyseal dysplasia tarda313400
TRAPPC9chr88q24.3Mental retardation autosomal recessive 13613192
TRDNchr66q22-q23Ventricular tachycardia catecholaminergic polymorphic
5 with or without muscle weakness
615441
TREHchr1111q23Trehalase deficiency612119
TREX1chr33p21.3-p21.2Systemic lupus erythematosus susceptibility to152700
TREX1chr33p21.3-p21.2Vasculopathy retinal with cerebral leukodystrophy192315
TREX1chr33p21.3-p21.2Aicardi-Goutieres syndrome 1 dominant and recessive225750
TRHchr33q13.3-q21Thyrotropin-releasing hormone deficiency275120
TRHRchr88q23Hypothyroidism congenital nongoitrous 7618573
TRIM2chr44q31.3Charcot-Marie-Tooth disease type 2R615490
TRIM32chr99q31-q34.1Bardet-Biedl syndrome 11615988
TRIM32chr99q31-q34.1Muscular dystrophy limb-girdle autosomal recessive 8254110
TRIM37chr1717q22-q23Mulibrey nanism253250
TRIOBPchr2222q13.1Deafness autosomal recessive 28609823
TRIP11chr1414q31-q32Osteochondrodysplasia184260
TRIP11chr1414q31-q32Achondrogenesis type IA200600
TRIP13chr55p15.33Mosaic variegated aneuploidy syndrome 3617598
TRIT1chr11p34.2Combined oxidative phosphorylation deficiency 35617873
TRMT1chr1919p13.3Mental retardation autosomal recessive 68618302
TRMT10Achr44q23Microcephaly short stature and impaired glucose
metabolism 1
616033
TRMUchr2222q13Liver failure transient infantile613070
TRNT1chr33p25.1Sideroblastic anemia with B-cell immunodeficiency
periodic fevers and developmental delay
616084
TRNT1chr33p25.1Retinitis pigmentosa and erythrocytic microcytosis616959
TRPM1chr1515q13-q14Night blindness congenital stationary (complete) 1C
autosomal recessive
613216
TRPM6chr99q22Hypomagnesemia 1 intestinal602014
TSEN15chr11q25Pontocerebellar hypoplasia type 2F617026
TSEN2chr33p25.1Pontocerebellar hypoplasia type 2B612389
TSEN34chr1919q13.4Pontocerebellar hypoplasia type 2C612390
TSEN54chr1717q25.1Pontocerebellar hypoplasia type 4225753
TSEN54chr1717q25.1Pontocerebellar hypoplasia type 2A277470
TSEN54chr1717q25.1Pontocerebellar hypoplasia type 5610204
TSFMchr1212q13-q14Combined oxidative phosphorylation deficiency 3610505
TSHBchr11p13Hypothyroidism congenital nongoitrous 4275100
TSHRchr1414q31Hypothyroidism congenital nongoitrous 1275200
TSPAN7chrXXq11Mental retardation X-linked 58300210
TSPEARchr2121q22.3Ectodermal dysplasia 14 hair/tooth type with or without hypohidrosis618180
TSPEARchr2121q22.3Deafness autosomal recessive 98614861
TSPYL1chr66q22-q23Sudden infant death with dysgenesis of the testes syndrome608800
TSR2chrXXp11.22Diamond-Blackfan anemia 14 with mandibulofacial
dysostosis
300946
TTC19chr1717p12Mitochondrial complex III deficiency nuclear type 2615157
TTC21Bchr22q24.3Nephronophthisis 12613820
TTC21Bchr22q24.3Short-rib thoracic dysplasia 4 with or without
polydactyly
613819
TTC37chr55q15Trichohepatoenteric syndrome 1222470
TTC7Achr22p21Gastrointestinal defects and immunodeficiency
syndrome
243150
TTC8chr1414q32.1Bardet-Biedl syndrome 8615985
TTC8chr1414q32.1Retinitis pigmentosa 51613464
TTI2chr88p12Mental retardation autosomal recessive 39615541
TTLL5chr1414q24.3Cone-rod dystrophy 19615860
TTNchr22q31Muscular dystrophy limb-girdle autosomal recessive 10608807
TTNchr22q31Salih myopathy611705
TTPAchr88q13.1-q13.3Ataxia with isolated vitamin E deficiency277460
TUBchr1111p15.4Retinal dystrophy and obesity616188
TUBA8chr2222q11Cortical dysplasia complex with other brain
malformations 8
613180
TUBGCP4chr1515q15Microcephaly and chorioretinopathy autosomal
recessive 3
616335
TUBGCP6chr2222q13.33Microcephaly and chorioretinopathy autosomal
recessive 1
251270
TUFMchr1616p11.2Combined oxidative phosphorylation deficiency 4610678
TULP1chr66p21.3Retinitis pigmentosa 14600132
TULP1chr66p21.3Leber congenital amaurosis 15613843
TUSC3chr88p22Mental retardation autosomal recessive 7611093
TWIST2chr22q37.3Focal facial dermal dysplasia 3 Setleis type227260
TWNKchr1010q24Mitochondrial DNA depletion syndrome 7
(hepatocerebral type)
271245
TWNKchr1010q24Perrault syndrome 5616138
TXN2chr2222q12.3Combined oxidative phosphorylation deficiency 29616811
TXNL4Achr1818q23Burn-McKeown syndrome608572
TXNRD2chr2222q11.2Glucocorticoid deficiency 5617825
TYK2chr1919p13.2Immunodeficiency 35611521
TYMPchr2222q13.32-qterMitochondrial DNA depletion syndrome 1 (MNGIE type)603041
TYRchr1111q14-q21Albinism oculocutaneous type IB606952
TYRchr1111q14-q21Albinism oculocutaneous type IA203100
TYROBPchr1919q13.1Polycystic lipomembranous osteodysplasia with
sclerosing leukoencephalopathy 1
221770
TYRP1chr99p23Albinism oculocutaneous type III203290
UBA1chrXXp11.23Spinal muscular atrophy X-linked 2 infantile301830
UBE2AchrXXq24Mental retardation X-linked syndromic Nascimento- type300860
UBE2Tchr11q31Fanconi anemia complementation group T616435
UBE3Bchr1212q24.11Kaufman oculocerebrofacial syndrome244450
UBR1chr1515q15-q21.1Johanson-Blizzard syndrome243800
UCHL1chr44p14Spastic paraplegia 79 autosomal recessive615491
UCHL1chr44p14Parkinson disease 5 susceptibility to613643
UCP3chr1111q13Obesity severe and type II diabetes601665
UGT1A1chr22q37Gilbert syndrome143500
UGT1A1chr22q37Hyperbilirubinemia familial transient neonatal237900
UGT1A1chr22q37Crigler-Najjar syndrome type I218800
UGT1A1chr22q37Crigler-Najjar syndrome type II606785
UMPSchr33q13Orotic aciduria258900
UNC13Dchr1717q25.1Hemophagocytic lymphohistiocytosis familial 3608898
UNC80chr22q35Hypotonia infantile with psychomotor retardation and
characteristic facies 2
616801
UNGchr1212q23-q24.1Immunodeficiency with hyper IgM type 5608106
UPB1chr2222q11.2Beta-ureidopropionase deficiency613161
UPF3BchrXXq25-q26Mental retardation X-linked syndromic 14300676
UQCRBchr88q22Mitochondrial complex III deficiency nuclear type 3615158
UQCRC2chr1616p12Mitochondrial complex III deficiency nuclear type 5615160
UQCRFS1chr1919q12Mitochondrial complex III deficiency nuclear type 10618775
UQCRQchr55q31.1Mitochondrial complex III deficiency nuclear type 4615159
UROC1chr33q21.3Urocanase deficiency276880
URODchr11p34Porphyria hepatoerythropoietic176100
URODchr11p34Porphyria cutanea tarda176100
UROSchr1010q25.2-q26.3Porphyria congenital erythropoietic263700
USB1chr1616q13Poikiloderma with neutropenia604173
USH1Cchr1111p15.1Deafness autosomal recessive 18A602092
USH1Cchr1111p15.1Usher syndrome type 1C276904
USH1Gchr1717q24-q25Usher syndrome type 1G606943
USH2Achr11q41Usher syndrome type 2A276901
USP27XchrXXp11.2Mental retardation X-linked 105300984
USP9XchrXXp11.4Mental retardation X-linked 99300919
USP9XchrXXp11.4Mental retardation X-linked 99 syndromic female- restricted300968
UVSSAchr44p16.3UV-sensitive syndrome 3614640
VAMP1chr1212p13.31Myasthenic syndrome congenital 25618323
VARS2chr66p21.3Combined oxidative phosphorylation deficiency 20615917
VAX1chr1010q26.1Microphthalmia syndromic 11614402
VDRchr1212q12-q14Rickets vitamin D-resistant type IIA277440
VHLchr33p26-p25Erythrocytosis familial 2263400
VIPAS39chr1414q24.3Arthrogryposis renal dysfunction and cholestasis 2613404
VLDLRchr99p24Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1224050
VMA21chrXXq28Myopathy X-linked with excessive autophagy310440
VPS13Achr99q21Choreoacanthocytosis200150
VPS13Bchr88q22-q23Cohen syndrome216550
VPS33Bchr1515q26.1Arthrogryposis renal dysfunction and cholestasis 1208085
VPS37Achr88p23-p21Spastic paraplegia 53 autosomal recessive614898
VPS45chr11q21-q22Neutropenia severe congenital 5 autosomal recessive615285
VPS53chr1717p13.3Pontocerebellar hypoplasia type 2E615851
VRK1chr1414q32Pontocerebellar hypoplasia type 1A607596
VWA3Bchr22q11.2Spinocerebellar ataxia autosomal recessive 22616948
VWFchr1212p13.3von Willebrand disease type 1193400
VWFchr1212p13.3von Willebrand disease types 2A 2B 2M and 2N613554
VWFchr1212p13.3von Willibrand disease type 3277480
WASchrXXp11.23-
p11.22
Thrombocytopenia X-linked intermittent313900
WASchrXXp11.23-
p11.22
Thrombocytopenia X-linked313900
WASchrXXp11.23-
p11.22
Wiskott-Aldrich syndrome301000
WASchrXXp11.23-
p11.22
Neutropenia severe congenital X-linked300299
WASHC4chr1212q23.3Mental retardation autosomal recessive 43615817
WASHC5chr88q24.13Ritscher-Schinzel syndrome 1220210
WDPCPchr22p15Bardet-Biedl syndrome 15615992
WDPCPchr22p15Congenital heart defects hamartomas of tongue and
polysyndactyly
217085
WDR19chr44p14-p11Nephronophthisis 13614377
WDR19chr44p14-p11Senior-Loken syndrome 8616307
WDR19chr44p14-p11Cranioectodermal dysplasia 4614378
WDR19chr44p14-p11Short-rib thoracic dysplasia 5 with or without
polydactyly
614376
WDR35chr22p24.1Short-rib thoracic dysplasia 7 with or without
polydactyly
614091
WDR35chr22p24.1Cranioectodermal dysplasia 2613610
WDR4chr2121q22.3Microcephaly growth deficiency seizures and brain malformations618346
WDR4chr2121q22.3Galloway-Mowat syndrome 6618347
WDR45Bchr1717q25.3Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures617977
WDR62chr1919q13.12Microcephaly 2 primary autosomal recessive with or
without cortical malformations
604317
WDR72chr1515q21.3Amelogenesis imperfecta type IIA3613211
WDR73chr1515q25.2Galloway-Mowat syndrome 1251300
WDR81chr1717p13.3Hydrocephalus congenital 3 with brain anomalies617967
WDR81chr1717p13.3Cerebellar ataxia mental retardation and
dysequilibrium syndrome 2
610185
WFS1chr44p16.1Wolfram syndrome 1222300
WHRNchr99q32-q34Deafness autosomal recessive 31607084
WHRNchr99q32-q34Usher syndrome type 2D611383
WNK1chr1212p13Neuropathy hereditary sensory and autonomic type II201300
WNT1chr1212q12-q13Osteogenesis imperfecta type XV615220
WNT10Achr22q35Schopf-Schulz-Passarge syndrome224750
WNT10Achr22q35Tooth agenesis selective 4150400
WNT10Achr22q35Odontoonychodermal dysplasia257980
WNT10Bchr1212q13Split-hand/foot malformation 6225300
WNT3chr1717q21Tetra-amelia syndrome 1273395
WNT4chr11p35SERKAL syndrome611812
WNT7Achr33p25Fuhrmann syndrome228930
WNT7Achr33p25Ulna and fibula absence of with severe limb deficiency276820
WRAP53chr1717p13Dyskeratosis congenita autosomal recessive 3613988
WRNchr88p12-p11.2Werner syndrome277700
WWOXchr1616q23.3-q24.1Spinocerebellar ataxia autosomal recessive 12614322
WWOXchr1616q23.3-q24.1Epileptic encephalopathy early infantile 28616211
XDHchr22p23-p22Xanthinuria type I278300
XIAPchrXXq25Lymphoproliferative syndrome X-linked 2300635
XPAchr99q22.3Xeroderma pigmentosum group A278700
XPCchr33p25Xeroderma pigmentosum group C278720
XPNPEP3chr2222q13.31-
q13.33
Nephronophthisis-like nephropathy 1613159
XRCC1chr1919q13.2Spinocerebellar ataxia autosomal recessive 26617633
XRCC2chr77q36.1Fanconi anemia complementation group U617247
XRCC4chr55q13-q14Short stature microcephaly and endocrine dysfunction616541
XYLT1chr1616p13.1Pseudoxanthoma elasticum modifier of severity of264800
XYLT1chr1616p13.1Desbuquois dysplasia 2615777
XYLT2chr1717q21.3-q22Pseudoxanthoma elasticum modifier of severity of264800
XYLT2chr1717q21.3-q22Spondyloocular syndrome605822
YARS2chr1212p11.21Myopathy lactic acidosis and sideroblastic anemia 2613561
ZAP70chr22q12Autoimmune disease multisystem infantile-onset 2617006
ZAP70chr22q12Immunodeficiency 48269840
ZBTB11chr33q12.3Intellectual developmental disorder autosomal
recessive 69
618383
ZBTB16chr1111q23.1Skeletal defects genital hypoplasia and mental
retardation
612447
ZBTB24chr66q21Immunodeficiency-centromeric instability-facial
anomalies syndrome 2
614069
ZBTB42chr1414q32.33Lethal congenital contracture syndrome 6616248
ZC3H14chr1414q31.3Mental retardation autosomal recessive 56617125
ZC4H2chrXXq11.2Wieacker-Wolff syndrome314580
ZFYVE26chr1414q24.1Spastic paraplegia 15 autosomal recessive270700
ZIC3chrXXq26.2Congenital heart defects nonsyndromic 1 X-linked306955
ZIC3chrXXq26.2Heterotaxy visceral 1 X-linked306955
ZIC3chrXXq26.2VACTERL association X-linked314390
ZMPSTE24chr11p34Restrictive dermopathy lethal275210
ZMPSTE24chr11p34Mandibuloacral dysplasia with type B lipodystrophy608612
ZMYND10chr33p21.3Ciliary dyskinesia primary 22615444
ZMYND15chr1717p13.2Spermatogenic failure 14615842
ZNF141chr44p16.3Polydactyly postaxial type A6615226
ZNF335chr2020q11.2-q13.1Microcephaly 10 primary autosomal recessive615095
ZNF408chr1111p11.2Exudative vitreoretinopathy 6616468
ZNF408chr1111p11.2Retinitis pigmentosa 72616469
ZNF423chr1616q12Nephronophthisis 14614844
ZNF423chr1616q12Joubert syndrome 19614844
ZNF469chr1616q24Brittle cornea syndrome 1229200
ZNF513chr22p24.1-p22.3Retinitis pigmentosa 58613617
ZP1chr1111q12.2Oocyte maturation defect 1615774
AGTR2chrXXq23Mental retardation, X-linked 88300852
CASP10chr22q33-q34Autoimmune lymphoproliferative syndrome type II603909
ZNF41chrXXp22.1-cenMental retardation, X-linked314995
CDKL5chrXXp22Epileptic encephalopathy early infantile 2300672
PTENchr1010q23.31Lhermitte-Duclos syndrome158350
SFTPCchr88p21Surfactant metabolism dysfunction pulmonary 2610913
ARHGEF6chrXXq26X-linked non-syndromic intellectual disability
UBE3Achr1515q11-q13Angelman syndrome105830
CASKchrXXp11.4Mental retardation with or without nystagmus300422
CASKchrXXp11.4Mental retardation and microcephaly with pontine and
cerebellar hypoplasia
300749
CASKchrXXp11.4FG syndrome 4300422
PDHA1chrXXp22.2-p22.1Leigh syndrome with leukodystrophy312170
TCF4chr1818q21.2Corneal dystrophy Fuchs endothelial 3613267
SHROOM4chrXXp11.2Stocco dos Santos X-linked mental retardation syndrome300434
OXCT1chr55p13Succinyl CoA:3-oxoacid CoA transferase deficiency245050
GLAchrXXq22Fabry disease301500
GLAchrXXq22Fabry disease cardiac variant301500
NHEJ1chr22q35Cernunnos-XLF deficiency611291
ZEB2chr22q22Mowat-Wilson syndrome235730
NSD1chr55q35Sotos syndrome 1117550
NLGN4XchrXXp22.33Mental retardation X-linked300495
NLGN4XchrXXp22.33Asperger syndrome susceptibility X-linked 2300497
NLGN4XchrXXp22.33Autism susceptibility X-linked 2300495
BCORchrXXp11.4Microphthalmia syndromic 2300166
RPS6KA3chrXXp22.2-p22.1Mental retardation X-linked 19300844
RPS6KA3chrXXp22.2-p22.1Coffin-Lowry syndrome303600
STXBP2chr1919p13.3-p13.2Hemophagocytic lymphohistiocytosis familial 5613101
CHMP1Bchr1818p11Spastic paraplegia606486
EFNB1chrXXq12Craniofrontonasal dysplasia304110
HJVchr11q21Hemochromatosis type 2A602390
DCXchrXXq22.3-q23Subcortical laminal heterotopia X-linked300067
DCXchrXXq22.3-q23Lissencephaly X-linked300067
NXF5chrXXq22.1Focal segmental glomerulosclerosis300319
COL1A1chr1717q21.31-q22Osteogenesis imperfecta type I166200
COL1A1chr1717q21.31-q22Osteogenesis imperfecta type IV166220
COL1A1chr1717q21.31-q22Osteogenesis imperfecta type II166210
COL1A1chr1717q21.31-q22Bone mineral density variation QTL osteoporosis166710
COL1A1chr1717q21.31-q22Caffey disease114000
COL1A1chr1717q21.31-q22Ehlers-Danlos syndrome arthrochalasia type 1130060
COL1A1chr1717q21.31-q22Osteogenesis imperfecta type III259420
TUBA1Achr1212q12-q14Lissencephaly 3611603
SLC16A2chrXXq13.2Allan-Herndon-Dudley syndrome300523
SLC9A6chrXXq26.3Mental retardation X-linked syndromic Christianson
type
300243
ZNF674chrXXp11X-linked mental retardation300573
FASLGchr11q23Autoimmune lymphoproliferative syndrome type IB601859
HSD17B10chrXXp11.2HSD10 mitochondrial disease300438
NDUFA7chr1919p13.2Disease associated to NDUFA7602139
ZNF711chrXXq21.1-q21.3Mental retardation X-linked 97300803
FOXG1chr1414q13Rett syndrome congenital variant613454
PCDH19chrXXq22Epileptic encephalopathy early infantile 9300088
ARSLchrXXp22.3Chondrodysplasia punctata X-linked recessive302950
ACADLchr22q34-q35Pulmonary surfactant dysfunction609576
HBA1chr1616pter-p13.3Hemoglobin H disease nondeletional613978
HBA1chr1616pter-p13.3Thalassemias alpha-604131
HBA1chr1616pter-p13.3Erythrocytosis 7617981
HBA1chr1616pter-p13.3Methemoglobinemia alpha type617973
HBA1chr1616pter-p13.3Heinz body anemias alpha-140700
NR5A1chr99q33Adrenocortical insufficiency612964
NR5A1chr99q3346 XX sex reversal 4617480
NR5A1chr99q33Premature ovarian failure 7612964
NR5A1chr99q33Spermatogenic failure 8613957
NR5A1chr99q3346XY sex reversal 3612965
HUWE1chrXXp11.2Mental retardation X-linked syndromic Turner type309590
ZDHHC9chrXXq26.1Mental retardation X-linked syndromic Raymond type300799
G6PDchrXXq28Hemolytic anemia G6PD deficient (favism)300908
G6PDchrXXq28Resistance to malaria due to G6PD deficiency611162
CYP11A1chr1515q24.1Adrenal insufficiency congenital with 46XY sex reversal
partial or complete
613743
NDUFS5chr11p34.2-p33Complex I-deficiency603847
MMUTchr66p21Methylmalonic aciduria mut(0) type251000
GTF2H5chr66q25.3Trichothiodystrophy 3 photosensitive616395
UNC93B1chr1111q13Encephalopathy acute infection-induced (herpes-
specific) susceptibility to 1
610551
NHSchrXXp22.13Nance-Horan syndrome302350
NHSchrXXp22.13Cataract 40 X-linked302200
SOX3chrXXq26.3Mental retardation X-linked with isolated growth hormone deficiency300123
SOX3chrXXq26.3Panhypopituitarism X-linked312000
ACSL4chrXXq22.3Mental retardation X-linked 63300387
GDI1chrXXq28Mental retardation X-linked 41300849
FASchr1010q24.1Autoimmune lymphoproliferative syndrome type IA601859
FASchr1010q24.1Autoimmune lymphoproliferative syndrome601859
COL4A5chrXXq22.3Alport syndrome 1 X-linked301050

La dottoressa Belén Lledódirettrice scientifica di  IBBIOTECH, del gruppo Instituto Bernabeu

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