qGenEx® DI. Panell de gens de Discapacitat Intel·lectual

Els panells qGenEx® consisteixen en anàlisis d’exoma dirigides, que permeten restringir l’estudi a un grup de gens concret segons l’especialitat o sospita clínica concreta, al mateix temps que generen dades de la totalitat de l’exoma, per si en primera instància no s’identifica el gen responsable, ja tinguem les dades apunt per a noves anàlisis presents o futures.

Per bé que tot el laboratori de qGenomics opera seguint normativa de la norma ISO15189, els gens inclosos en el panell qGenEx® DI estan específicament sota l’abast de l’acreditació ISO15189 concedida per ENAC a qGenomics. Podeu fer click sobre el logo d’ENAC de la part de dalt per veure l’abast específic de l’acreditació.

El servei qGenEx® DI, analitza 1973 gens associats a discapacitat intel·lectual per mitjà de seqüenciació massiva de l’exoma.

Fes servir el buscador per trobar el gen o grup de gens relacionats amb la patologia que t’interessa i que formen part del panell:
GenDiseaseOMIM ID
AARSCharcot-Marie-Tooth disease, axonal, type 2N; Epileptic encephalopathy, early infantile, 29613287; 616339
ABATGABA-transaminase deficiency613163
ACTBBaraitser-Winter syndrome 1 ; ?Dystonia, juvenile-onset243310; 607371
ACY1Aminoacylase 1 deficiency609924
ADCK3Coenzyme Q10 deficiency, primary, 4612016
ADSLAdenylosuccinase deficiency103050
ALG1Congenital disorder of glycosylation, type Ik608540
ALG11Congenital disorder of glycosylation, type Ip613661
ALG13Epileptic encephalopathy, early infantile, 36300884
ALG3Congenital disorder of glycosylation, type Id601110
ALG6Congenital disorder of glycosylation, type Ic603147
AMTGlycine encephalopathy605899
ARHGEF9Epileptic encephalopathy, early infantile, 8300607
ARXEpileptic encephalopathy, early infantile, 1 ; Hydranencephaly with abnormal genitalia; Lissencephaly, X-linked 2 ; Mental retardation, X-linked 29 and others; Partington syndrome; Proud syndrome308350; 300215; 300419; 309510; 300004
ATP1A2Alternating hemiplegia of childhood; Migraine, familial basilar; Migraine, familial hemiplegic, 2104290; 602481
ATP6AP2?Parkinsonism with spasticity, X-linked; ?Mental retardation, X-linked, syndromic, Hedera type300911; 300423
ATP7AMenkes disease; Occipital horn syndrome; Spinal muscular atrophy, distal, X-linked 3309400; 304150; 300489
ATRXAlpha-thalassemia myelodysplasia syndrome, somatic; Alpha-thalassemia/mental retardation syndrome; Mental retardation-hypotonic facies syndrome, X-linked300448; 301040; 309580
AUTS2Mental retardation, autosomal dominant 26615834
BRAT1Rigidity and multifocal seizure syndrome, lethal neonatal614498
BTDBiotinidase deficiency253260
CASKFG syndrome 4 ; Mental retardation and microcephaly with pontine and cerebellar hypoplasia; Mental retardation, with or without nystagmus300422; 300749
CDKL5Epileptic encephalopathy, early infantile, 2300672
CHD2Epileptic encephalopathy, childhood-onset615369
CLN3Ceroid lipofuscinosis, neuronal, 3204200
CLN5Ceroid lipofuscinosis, neuronal, 5256731
CLN6Ceroid lipofuscinosis, neuronal, 6 ; Ceroid lipofuscinosis, neuronal, Kufs type, adult onset601780; 204300
CLN8Ceroid lipofuscinosis, neuronal, 8 ; Ceroid lipofuscinosis, neuronal, 8 Northern epilepsy variant600143; 610003
CNNM2Hypomagnesemia 6 renal; Hypomagnesemia, seizures, and mental retardation613882; 616418
CNTNAP2Cortical dysplasia-focal epilepsy syndrome; Pitt-Hopkins like syndrome 1 ; {Autism susceptibility 15}610042; 612100
COL4A1Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps; Brain small vessel disease with or without ocular anomalies; Porencephaly 1 ; ?Retinal arteries, tortuosity of; {Hemorrhage, intracerebral, susceptibility to}611773; 607595; 175780; 180000; 614519
COL4A3BPMental retardation, autosomal dominant 34616351
COQ2Coenzyme Q10 deficiency, primary, 1 ; {Multiple system atrophy, susceptibility to}607426; 146500
COQ4Coenzyme Q10 deficiency, primary, 7616276
CPS1Carbamoylphosphate synthetase I deficiency; {Pulmonary hypertension, neonatal, susceptibility to}; {Venoocclusive disease after bone marrow transplantation}237300; 615371; -
CTSDCeroid lipofuscinosis, neuronal, 10610127
CUL4BMental retardation, X-linked, syndromic 15 (Cabezas type)300354
D2HGDHD-2-hydroxyglutaric aciduria600721
DCXLissencephaly, X-linked; Subcortical laminal heteropia, X-linked300067
DNM1Epileptic encephalopathy, early infantile, 31616346
DOCK7Epileptic encephalopathy, early infantile, 23615859
DPAGT1Congenital disorder of glycosylation, type Ij; Myasthenic syndrome, congenital, 13 with tubular aggregates608093; 614750
DPM1Congenital disorder of glycosylation, type Ie608799
DPYD5-fluorouracil toxicity; Dihydropyrimidine dehydrogenase deficiency274270
DYNC1H1Charcot-Marie-Tooth disease, axonal, type 20 ; Mental retardation, autosomal dominant 13 ; Spinal muscular atrophy, lower extremity-predominant 1 AD614228; 614563; 158600
DYRK1AMental retardation, autosomal dominant 7614104
EEF1A2Epileptic encephalopathy, early infantile, 33 ; Mental retardation, autosomal dominant 38616409; 616393
EHMT1Kleefstra syndrome610253
FGD1Aarskog-Scott syndrome; Mental retardation, X-linked syndromic 16305400
FLNACardiac valvular dysplasia, X-linked; Congenital short bowel syndrome; FG syndrome 2 ; Frontometaphyseal dysplasia; Heterotopia, periventricular; Heterotopia, periventricular, ED variant; Intestinal pseudoobstruction, neuronal; Melnick-Needles syndrome; Otopalatodigital syndrome, type I; Otopalatodigital syndrome, type II; Terminal osseous dysplasia314400; 300048; 300321; 305620; 300049; 300537; 309350; 311300; 304120; 300244
FOXG1Rett syndrome, congenital variant613454
GABRA1Epileptic encephalopathy, early infantile, 19 ; {Epilepsy, childhood absence, susceptibility to, 4}; {Epilepsy, juvenile myoclonic, susceptibility to, 5}615744; 611136
GAMTCerebral creatine deficiency syndrome 2612736
GCSHGlycine encephalopathy605899
GLDCGlycine encephalopathy605899
GNAO1Epileptic encephalopathy, early infantile, 17615473
GPC3Simpson-Golabi-Behmel syndrome, type 1 ; Wilms tumor, somatic312870; 194070
GPHNMolybdenum cofactor deficiency C615501
GRIA3Mental retardation, X-linked 94300699
GRIN1Mental retardation, autosomal dominant 8614254
GRIN2AEpilepsy, focal, with speech disorder and with or without mental retardation245570
GRIN2BEpileptic encephalopathy, early infantile, 27 ; Mental retardation, autosomal dominant 6616139; 613970
HCN1Epileptic encephalopathy, early infantile, 24615871
HDAC4No OMIM phenotypeNoOMIMPhenotype
HLCSHolocarboxylase synthetase deficiency253270
HSD17B1017-beta-hydroxysteroid dehydrogenase X deficiency; ?Mental retardation, X-linked syndromic 10300438; 300220
IER3IP1Microcephaly, epilepsy, and diabetes syndrome614231
IFIH1Aicardi-Goutieres syndrome 7 ; Singleton-Merten syndrome 1615846; 182250
IQSEC2Mental retardation, X-linked 1/78309530
JAM3Hemorrhagic destruction of the brain, subependymal calcification, and cataracts613730
KANSL1Koolen-De Vries syndrome610443
KCNA2Epileptic encephalopathy, early infantile, 32616366
KCNB1Epileptic encephalopathy, early infantile, 26616056
KCNH1Temple-Baraitser syndrome; Zimmermann-Laband syndrome 1611816; 135500
KCNJ10Enlarged vestibular aqueduct, digenic; SESAME syndrome600791; 612780
KCNJ11Diabetes mellitus, permanent neonatal, with neurologic features; Diabetes mellitus, transient neonatal, 3 ; Diabetes, permanent neonatal; Hyperinsulinemic hypoglycemia, familial, 2 ; Maturity-onset diabetes of the young, type 13 ; {Diabetes mellitus, type 2 susceptibility to}606176; 610582; 601820; 616329; 125853
KCNQ2Epileptic encephalopathy, early infantile, 7 ; Myokymia; Seizures, benign neonatal, 1613720; 121200
KCNT1Epilepsy, nocturnal frontal lobe, 5 ; Epileptic encephalopathy, early infantile, 14615005; 614959
KCTD7Epilepsy, progressive myoclonic 3 with or without intracellular inclusions611726
KDM5CMental retardation, X-linked, syndromic, Claes-Jensen type300534
KIAA2022Mental retardation, X-linked 98300912
KPTNMental retardation, autosomal recessive 41615637
LIASHyperglycinemia, lactic acidosis, and seizures614462
MBD5Mental retardation, autosomal dominant 1156200
MECP2Encephalopathy, neonatal severe; Mental retardation, X-linked syndromic, Lubs type; Mental retardation, X-linked, syndromic 13 ; Rett syndrome; Rett syndrome, atypical; Rett syndrome, preserved speech variant; {Autism susceptibility, X-linked 3}300673; 300260; 300055; 312750; 300496
MED12Lujan-Fryns syndrome; Ohdo syndrome, X-linked; Opitz-Kaveggia syndrome309520; 300895; 305450
MEF2CChromosome 5q14,3 deletion syndrome; Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations613443
MOCS1Molybdenum cofactor deficiency A252150
MOCS2Molybdenum cofactor deficiency B252160
MPDU1Congenital disorder of glycosylation, type If609180
MTHFRHomocystinuria due to MTHFR deficiency; {Neural tube defects, susceptibility to}; {Schizophrenia, susceptibility to}; {Thromboembolism, susceptibility to}; {Vascular disease, susceptibility to}236250; 601634; 181500; 188050; -
MTORSmith-Kingsmore syndrome616638
NDUFA1Mitochondrial complex I deficiency252010
NDUFA11Mitochondrial complex I deficiency252010
NDUFAF5Mitochondrial complex 1 deficiency252010
NDUFS1Mitochondrial complex I deficiency252010
NDUFS2Mitochondrial complex I deficiency252010
NDUFS3Leigh syndrome due to mitochondrial complex I deficiency; Mitochondrial complex I deficiency256000; 252010
NDUFS4Leigh syndrome; Mitochondrial complex I deficiency256000; 252010
NDUFV1Mitochondrial complex I deficiency252010
NECAP1?Epileptic encephalopathy, early infantile, 21615833
NEDD4L{Essential hypertension, association with} (Russo -2005 Hypertension 46,488) ; Epilepsy,photosensitive generalised (Dibbens (2007),Genes Brain Behav 6,750); Infantile spasms (Allen -2013 Nature 501,217) ; Impaired ENaC regulation (Fouladkou -2004 Am J Physiol Renal Physiol 287,F550)NoOMIMPhenotype
NRXN1Pitt-Hopkins-like syndrome 2 ; {Schizophrenia, susceptibility to, 17}614325; 614332
OFD1Joubert syndrome 10 ; Orofaciodigital syndrome I; Simpson-Golabi-Behmel syndrome, type 2 ; ?Retinitis pigmentosa 23300804; 311200; 300209; 300424
OPHN1Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance300486
PAK3Mental retardation, X-linked 30/47300558
PCPyruvate carboxylase deficiency266150
PCDH19Epileptic encephalopathy, early infantile, 9300088
PDHA1Pyruvate dehydrogenase E1-alpha deficiency312170
PET100Mitochondrial complex IV deficiency220110
PEX1Heimler syndrome 1 ; Peroxisome biogenesis disorder 1A (Zellweger); Peroxisome biogenesis disorder 1B (NALD/IRD)234580; 214100; 601539
PEX10Peroxisome biogenesis disorder 6A (Zellweger); Peroxisome biogenesis disorder 6B614870; 614871
PEX12Peroxisome biogenesis disorder 3A (Zellweger); Peroxisome biogenesis disorder 3B614859; 266510
PEX13Peroxisome biogenesis disorder 11A (Zellweger); Peroxisome biogenesis disorder 11B614883; 614885
PEX16Peroxisome biogenesis disorder 8A, (Zellweger); Peroxisome biogenesis disorder 8B614876; 614877
PEX19Peroxisome biogenesis disorder 12A (Zellweger)614886
PEX26Peroxisome biogenesis disorder 7A (Zellweger); Peroxisome biogenesis disorder 7B614872; 614873
PEX3Peroxisome biogenesis disorder 10A (Zellweger)614882
PEX5Peroxisome biogenesis disorder 2A (Zellweger); Peroxisome biogenesis disorder 2B; Rhizomelic chondrodysplasia punctata, type 5214110; 202370; 616716
PEX6Heimler syndrome 2 ; Peroxisome biogenesis disorder 4A (Zellweger); Peroxisome biogenesis disorder 4B616617; 614862; 614863
PGAP3Hyperphosphatasia with mental retardation syndrome 4615716
PHF6Borjeson-Forssman-Lehmann syndrome301900
PHGDHNeu-Laxova syndrome 1 ; Phosphoglycerate dehydrogenase deficiency256520; 601815
PIGAMultiple congenital anomalies-hypotonia-seizures syndrome 2 ; Paroxysmal nocturnal hemoglobinuria, somatic300868; 300818
PIGNMultiple congenital anomalies-hypotonia-seizures syndrome 1614080
PIGOHyperphosphatasia with mental retardation syndrome 2614749
PIGTMultiple congenital anomalies-hypotonia-seizures syndrome 3 ; ?Paroxysmal nocturnal hemoglobinuria 2615398; 615399
PLA2G6Infantile neuroaxonal dystrophy 1 ; Neurodegeneration with brain iron accumulation 2B; Parkinson disease 14 autosomal recessive256600; 610217; 612953
PLCB1Epileptic encephalopathy, early infantile, 12613722
PLP1Pelizaeus-Merzbacher disease; Spastic paraplegia 2 X-linked312080; 312920
PMM2Congenital disorder of glycosylation, type Ia212065
PNKPAtaxia-oculomotor apraxia 4 ; Microcephaly, seizures, and developmental delay616267; 613402
POLGMitochondrial DNA depletion syndrome 4A (Alpers type); Mitochondrial DNA depletion syndrome 4B (MNGIE type); Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE); Progressive external ophthalmoplegia, autosomal dominant 1 ; Progressive external ophthalmoplegia, autosomal recessive 1203700; 613662; 607459; 157640; 258450
PPP2R1AMental retardation, autosomal dominant 36616362
PPT1Ceroid lipofuscinosis, neuronal, 1256730
PQBP1Renpenning syndrome309500
PURAMental retardation, autosomal dominant 31616158
PYCR2Leukodystrophy, hypomyelinating, 10616420
QARSMicrocephaly, progressive, seizures, and cerebral and cerebellar atrophy615760
RAB39BMental retardation, X-linked 72 ; ?Waisman syndrome300271; 311510
RARS2Pontocerebellar hypoplasia, type 6611523
RNASEH2AAicardi-Goutieres syndrome 4610333
RNASEH2BAicardi-Goutieres syndrome 2610181
RNASEH2CAicardi-Goutieres syndrome 3610329
ROGDIKohlschutter-Tonz syndrome226750
RPS6KA3Coffin-Lowry syndrome; Mental retardation, X-linked 19303600; 300844
SCN1ADravet syndrome; Epilepsy, generalized, with febrile seizures plus, type 2 ; Febrile seizures, familial, 3A; Migraine, familial hemiplegic, 3607208; 604403; 609634
SCN2AEpileptic encephalopathy, early infantile, 11 ; Seizures, benign familial infantile, 3613721; 607745
SCN8AEpileptic encephalopathy, early infantile, 13 ; ?Cognitive impairment with or without cerebellar ataxia614558; 614306
SIK1Epileptic encephalopathy, early infantile, 30616341
SLC13A5Epileptic encephalopathy, early infantile, 25615905
SLC19A3Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2),607483
SLC25A15Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome238970
SLC25A22Epileptic encephalopathy, early infantile, 3609304
SLC2A1Dystonia 9 ; GLUT1 deficiency syndrome 1 infantile onset, severe; GLUT1 deficiency syndrome 2 childhood onset; Stomatin-deficient cryohydrocytosis with neurologic defects; {Epilepsy, idiopathic generalized, susceptibility to, 12}601042; 606777; 612126; 608885; 614847
SLC35A2Congenital disorder of glycosylation, type IIm300896
SLC6A8Cerebral creatine deficiency syndrome 1300352
SLC9A6Mental retardation, X-linked syndromic, Christianson type300243
SMARCA2Nicolaides-Baraitser syndrome601358
SMC1ACornelia de Lange syndrome 230059
SMSMental retardation, X-linked, Snyder-Robinson type309583
SPTAN1Epileptic encephalopathy, early infantile, 5613477
ST3GAL3Epileptic encephalopathy, early infantile, 15 ; Mental retardation, autosomal recessive 12615006; 611090
ST3GAL5Amish infantile epilepsy syndrome609056
STXBP1Epileptic encephalopathy, early infantile, 4612164
SUOXSulfite oxidase deficiency272300
SYN1Epilepsy, X-linked, with variable learning disabilities and behavior disorders300491
SYNGAP1Mental retardation, autosomal dominant 5612621
SYPMental retardation, X-linked 96300802
SZT2Epileptic encephalopathy, early infantile, 18615476
TBC1D24Deafness , autosomal recessive 86 ; Deafness, autosomal dominant 65 ; DOOR syndrome; Epileptic encephalopathy, early infantile, 16 ; Myoclonic epilepsy, infantile, familial614617; 616044; 220500; 615338; 605021
TBCEHypoparathyroidism-retardation-dysmorphism syndrome; Kenny-Caffey syndrome, type 1241410; 244460
TCF4Corneal dystrophy, Fuchs endothelial, 3 ; Pitt-Hopkins syndrome613267; 610954
TPP1Ceroid lipofuscinosis, neuronal, 2 ; Spinocerebellar ataxia, autosomal recessive 7204500; 609270
TREX1Aicardi-Goutieres syndrome 1 dominant and recessive; Chilblain lupus; Vasculopathy, retinal, with cerebral leukodystrophy; {Systemic lupus erythematosus, susceptibility to}225750; 610448; 192315; 152700
TSC1Lymphangioleiomyomatosis; Tuberous sclerosis-1606690; 191100
TSC2Lymphangioleiomyomatosis, somatic; Tuberous sclerosis-2606690; 613254
TUBG1Cortical dysplasia, complex, with other brain malformations 4615412
UBE3AAngelman syndrome105830
WWOXEpileptic encephalopathy, early infantile, 28 ; Esophageal squamous cell carcinoma, somatic; Spinocrebellar ataxia, autosomal recessive 12616211; 133239; 614322
ZEB2Mowat-Wilson syndrome235730
A2MAlpha-2-macroglobulin deficiency, 614036 (1);{Alzheimer disease, susceptibility to}, 104300 (3);614036;104300;
AAASAchalasia-addisonianism-alacrimia syndrome, 231550 (3);231550;
AASSHyperlysinemia, 238700 (3);Saccharopinuria, 268700 (1);238700;268700;
ACADMAcyl-CoA dehydrogenase, medium chain, deficiency of, 201450 (3);201450;
ACADSAcyl-CoA dehydrogenase, short-chain, deficiency of, 201470 (3);201470;
ACADSB2-methylbutyrylglycinuria, 610006 (3);610006;
ACTA2Aortic aneurysm, familial thoracic 6, 611788 (3);Moyamoya disease 5, 614042 (3);Multisystemic smooth muscle dysfunction syndrome, 613834 (3);611788;614042;613834;
ADAM22?Epileptic encephalopathy, early infantile, 61, 617933 (3);617933;
ADAMTSL2Geleophysic dysplasia 1, 231050 (3);231050;
ADD3Cerebral palsy, spastic quadriplegic, 3, 617008 (3);617008;
ADRA2BEpilepsy, myoclonic, familial adult, 2, 607876 (3);607876;
AFG3L2Spastic ataxia 5, autosomal recessive, 614487 (3);Spinocerebellar ataxia 28, 610246 (3);614487;610246;
AGLGlycogen storage disease IIIa, 232400 (3);Glycogen storage disease IIIb, 232400 (3);232400;232400;
AGPSRhizomelic chondrodysplasia punctata, type 3, 600121 (3);600121;
AGRNMyasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120 (3);615120;
AGTR2
AHSG?Alopecia-mental retardation syndrome 1, 203650 (3);203650;
AIPL1Cone-rod dystrophy, 604393 (3);Leber congenital amaurosis 4, 604393 (3);Retinitis pigmentosa, juvenile, 604393 (3);604393;604393;604393;
AKT1Breast cancer, somatic, 114480 (3);Colorectal cancer, somatic, 114500 (3);Cowden syndrome 6, 615109 (3);Ovarian cancer, somatic, 167000 (3);Proteus syndrome, somatic, 176920 (3);{Schizophrenia, susceptibility to}, 181500 (2);114480;114500;615109;167000;176920;181500;
ALDOBFructose intolerance, hereditary, 229600 (3);229600;
AMER1Osteopathia striata with cranial sclerosis, 300373 (3);300373;
ANK1Spherocytosis, type 1, 182900 (3);182900;
ANKLE2?Microcephaly 16, primary, autosomal recessive, 616681 (3);616681;
AP3B2Epileptic encephalopathy, early infantile, 48, 617276 (3);617276;
APC2?Sotos syndrome 3, 617169 (3);617169;
APOL2{Schizophrenia}, 181500 (1);181500;
APOL4{Schizophrenia}, 181500 (1);181500;
APPAlzheimer disease 1, familial, 104300 (3);Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants, 605714 (3);104300;605714;
AQP2Diabetes insipidus, nephrogenic, 125800 (3);125800;
ARCN1Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay, 617164 (3);617164;
ARHGDIANephrotic syndrome, type 8, 615244 (3);615244;
ARID2Coffin-Siris syndrome 6, 617808 (3);617808;
ARMC9Joubert syndrome 30, 617622 (3);617622;
ARNT2?Webb-Dattani syndrome, 615926 (3);615926;
ARSAMetachromatic leukodystrophy, 250100 (3);250100;
ARV1Epileptic encephalopathy, early infantile, 38, 617020 (3);617020;
ASCL1Central hypoventilation syndrome, congenital, 209880 (3);Haddad syndrome, 209880 (3);209880;209880;
ASS1Citrullinemia, 215700 (3);215700;
ASXL2Shashi-Pena syndrome, 617190 (3);617190;
ATAD1Hyperekplexia 4, 618011 (3);618011;
ATAD3AHarel-Yoon syndrome, 617183 (3);617183;
ATMAtaxia-telangiectasia, 208900 (3);Lymphoma, B-cell non-Hodgkin, somatic (3);Lymphoma, mantle cell, somatic (3);T-cell prolymphocytic leukemia, somatic (3);{Breast cancer, susceptibility to}, 114480 (3);208900;114480;
ATN1Dentatorubro-pallidoluysian atrophy, 125370 (3);125370;
ATP13A2Kufor-Rakeb syndrome, 606693 (3);Spastic paraplegia 78, autosomal recessive, 617225 (3);606693;617225;
ATP6AP1Immunodeficiency 47, 300972 (3);300972;
ATP6V1ACutis laxa, autosomal recessive, type IID; Epileptic encephalopathy, infantile or early childhood, 3617403; 618012
ATP6V1E1Cutis laxa, autosomal recessive, type IIC, 617402 (3);617402;
AVPR2Diabetes insipidus, nephrogenic, 304800 (3);Nephrogenic syndrome of inappropriate antidiuresis, 300539 (3);304800;300539;
B3GAT3Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, 245600 (3);245600;
B9D1?Meckel syndrome 9, 614209 (3);Joubert syndrome 27, 617120 (3);614209;617120;
BCKDKBranched-chain ketoacid dehydrogenase kinase deficiency, 614923 (3);614923;
BCL11B?Immunodeficiency 49, 617237 (3);617237;
BCRLeukemia, acute lymphocytic, somatic, 613065 (3);Leukemia, chronic myeloid, somatic, 608232 (3);613065;608232;
BDNF
BIN1Centronuclear myopathy 2, 255200 (3);255200;
BMP2Brachydactyly, type A2, 112600 (3);Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, 617877 (3);{HFE hemochromatosis, modifier of}, 235200 (3);112600;617877;235200;
BMP4Microphthalmia, syndromic 6, 607932 (3);Orofacial cleft 11, 600625 (3);607932;600625;
BRCA2Fanconi anemia, complementation group D1, 605724 (3);Wilms tumor, 194070 (3);{Breast cancer, male, susceptibility to}, 114480 (3);{Breast-ovarian cancer, familial, 2}, 612555 (3);{Glioblastoma 3}, 613029 (3);{Medulloblastoma}, 155255 (3);{Pancreatic cancer 2}, 613347 (3);{Prostate cancer}, 176807 (3);605724;194070;114480;612555;613029;155255;613347;176807;
C19orf12?Spastic paraplegia 43, autosomal recessive, 615043 (3);Neurodegeneration with brain iron accumulation 4, 614298 (3);615043;614298;
CACNA1CBrugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3);611875;601005;
CACNA1DPrimary aldosteronism, seizures, and neurologic abnormalities, 615474 (3);Sinoatrial node dysfunction and deafness, 614896 (3);615474;614896;
CACNA2D1Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disability.PMID: 25074461
CACNB4Episodic ataxia, type 5, 613855 (3);{Epilepsy, idiopathic generalized, susceptibility to, 9}, 607682 (3);{Epilepsy, juvenile myoclonic, susceptibility to, 6}, 607682 (3);613855;607682;607682;
CADEpileptic encephalopathy, early infantile, 50, 616457 (3);616457;
CARS2Combined oxidative phosphorylation deficiency 27, 616672 (3);616672;
CCDC115Congenital disorder of glycosylation, type IIo, 616828 (3);616828;
CCDC88A?PEHO syndrome-like, 617507 (3);617507;
CCDC88C?Spinocerebellar ataxia 40, 616053 (3);Hydrocephalus, nonsyndromic, autosomal recessive, 236600 (3);616053;236600;
CD96C syndrome, 211750 (3);211750;
CDC42Takenouchi-Kosaki syndrome, 616737 (3);616737;
CDH11Elsahy-Waters syndrome, 211380 (3);211380;
CDH23Deafness, autosomal recessive 12, 601386 (3);Usher syndrome, type 1D, 601067 (3);Usher syndrome, type 1D/F digenic, 601067 (3);{Pituitary adenoma 5, multiple types}, 617540 (3);601386;601067;601067;617540;
CDK5?Lissencephaly 7 with cerebellar hypoplasia, 616342 (3);616342;
CDK6?Microcephaly 12, primary, autosomal recessive, 616080 (3);616080;
CENPE?Microcephaly 13, primary, autosomal recessive, 616051 (3);616051;
CEP104Joubert syndrome 25, 616781 (3);616781;
CEP120Joubert syndrome 31, 617761 (3);Short-rib thoracic dysplasia 13 with or without polydactyly, 616300 (3);617761;616300;
CEP164Nephronophthisis 15, 614845 (3);614845;
CEP57Mosaic variegated aneuploidy syndrome 2, 614114 (3);614114;
CEP63?Seckel syndrome 6, 614728 (3);614728;
CERS1?Epilepsy, progressive myoclonic, 8, 616230 (3);616230;
CHATMyasthenic syndrome, congenital, 6, presynaptic, 254210 (3);254210;
CHI3L1{Asthma-related traits, susceptibility to, 7}, 611960 (3);{Schizophrenia, susceptibility to}, 181500 (3);611960;181500;
CHN1Duane retraction syndrome 2, 604356 (3);604356;
CHRDL1Megalocornea 1, X-linked 309300 (3);309300;
CHRNA715q13.3 recurrent region loss612001;
CISD2Wolfram syndrome 2, 604928 (3);604928;
CITMicrocephaly 17, primary, autosomal recessive, 617090 (3);617090;
CLCN2Leukoencephalopathy with ataxia, 615651 (3);{Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628 (3);{Epilepsy, juvenile absence, susceptibility to, 2}, 607628 (3);{Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628 (3);615651;607628;607628;607628;
CLP1Pontocerebellar hypoplasia, type 10, 615803 (3);615803;
CLTCMental retardation, autosomal dominant 56, 617854 (3);617854;
CLTCL1
CNKSR2Mental retardation, X-linked, syndromic, Houge type, 301008 (3);301008;
CNPY3Epileptic encephalopathy, early infantile, 60, 617929 (3);617929;
COA5?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3, 616500 (3);616500;
COA7?Mitochondrial complex IV deficiency, 220110 (3);220110;
COG2?Congenital disorder of glycosylation, type IIq, 617395 (3);617395;
COL13A1Myasthenic syndrome, congenital, 19, 616720 (3);616720;
COL18A1Knobloch syndrome, type 1, 267750 (3);267750;
COL25A1Fibrosis of extraocular muscles, congenital, 5, 616219 (3);616219;
COL3A1Ehlers-Danlos syndrome, vascular type, 130050 (3);130050;
COMT{Panic disorder, susceptibility to}, 167870 (3);{Schizophrenia, susceptibility to}, 181500 (3);167870;181500;
CORO1AImmunodeficiency 8, 615401 (3);615401;
COX14?Mitochondrial complex IV deficiency, 220110 (3);220110;
COX20Mitochondrial complex IV deficiency, 220110 (3);220110;
COX7BLinear skin defects with multiple congenital anomalies 2, 300887 (3);300887;
COX8A?Mitochondrial complex IV deficiency, 220110 (3);220110;
CPLANE1Joubert syndrome 17, 614615 (3);Orofaciodigital syndrome VI, 277170 (3);614615;277170;
CPLX1Epileptic encephalopathy, early infantile, 63, 617976 (3);617976;
CRB1Leber congenital amaurosis 8, 613835 (3);Pigmented paravenous chorioretinal atrophy, 172870 (3);Retinitis pigmentosa-12, autosomal recessive, 600105 (3);613835;172870;600105;
CRLF1Cold-induced sweating syndrome 1, 272430 (3);272430;
CRXCone-rod retinal dystrophy-2, 120970 (3);Leber congenital amaurosis 7, 613829 (3);120970;613829;
CTBP1Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome, 617915 (3);617915;
CTC1Cerebroretinal microangiopathy with calcifications and cysts, 612199 (3);612199;
CTHCystathioninuria, 219500 (3);Homocysteine, total plasma, elevated (3);219500;
CTNND2
CYP27A1Cerebrotendinous xanthomatosis, 213700 (3);213700;
DAO
DAOA{Schizophrenia}, 181500 (2);181500;
DCCColorectal cancer, somatic, 114500 (3);Esophageal carcinoma, somatic, 133239 (3);Gaze palsy, familial horizontal, with progressive scoliosis, 2, 617542 (3);Mirror movements 1 and/or agenesis of the corpus callosum, 157600 (3);114500;133239;617542;157600;
DDB2Xeroderma pigmentosum, group E, DDB-negative subtype, 278740 (3);278740;
DDOST?Congenital disorder of glycosylation, type Ir, 614507 (3);614507;
DENND5AEpileptic encephalopathy, early infantile, 49, 617281 (3);617281;
DHDDS?Congenital disorder of glycosylation, type 1bb, 613861 (3);Developmental delay and seizures with or without movement abnormalities, 617836 (3);Retinitis pigmentosa 59, 613861 (3);613861;617836;613861;
DIS3L2Perlman syndrome, 267000 (3);267000;
DISC1{Schizophrenia 9, susceptibility to}, 604906 (3);604906;
DLGAP2
DLL4Adams-Oliver syndrome 6, 616589 (3);616589;
DNAJC6Parkinson disease 19a, juvenile-onset, 615528 (3);Parkinson disease 19b, early-onset, 615528 (3);615528;615528;
DNM1LEncephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388 (3);Optic atrophy 5, 610708 (3);614388;610708;
DOCK8Hyper-IgE recurrent infection syndrome, autosomal recessive, 243700 (3);243700;
DOLKCongenital disorder of glycosylation, type Im, 610768 (3);610768;
DPYSDihydropyrimidinuria, 222748 (3);222748;
DRD3{Essential tremor, hereditary, 1}, 190300 (3);{Schizophrenia, susceptibility to}, 181500 (3);190300;181500;
DSTYKCongenital anomalies of kidney and urinary tract 1, 610805 (3);Spastic paraplegia 23, 270750 (3);610805;270750;
EARS2Combined oxidative phosphorylation deficiency 12, 614924 (3);614924;
ECE1?Hirschsprung disease, cardiac defects, and autonomic dysfunction, 613870 (3);{Hypertension, essential, susceptibility to}, 145500 (3);613870;145500;
ECHS1Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, 616277 (3);616277;
ECM1Urbach-Wiethe disease, 247100 (3);247100;
EDN3Central hypoventilation syndrome, congenital, 209880 (3);Waardenburg syndrome, type 4B, 613265 (3);{Hirschsprung disease, susceptibility to, 4}, 613712 (3);209880;613265;613712;
EFHC1{Epilepsy, juvenile absence, susceptibility to, 1}, 607631 (3);{Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770 (3);607631;254770;
EIF2B1Leukoencephalopathy with vanishing white matter, 603896 (3);603896;
EIF2B2Leukoencephalopathy with vanishing white matter, 603896 (3);Ovarioleukodystrophy, 603896 (3);603896;603896;
EIF2B3Leukoencephalopathy with vanishing white matter, 603896 (3);603896;
EIF2B4Leukoencephalopathy with vanishing white matter, 603896 (3);Ovarioleukodystrophy, 603896 (3);603896;603896;
EIF2B5Leukoencephalopathy with vanishing white matter, 603896 (3);Ovarioleukodystrophy, 603896 (3);603896;603896;
EIF2S3MEHMO syndrome, 300148 (3);300148;
ELMO2Vascular malformation, primary intraosseous, 606893 (3);606893;
ELNCutis laxa, autosomal dominant, 123700 (3);Supravalvar aortic stenosis, 185500 (3);123700;185500;
ELP4?Aniridia 2, 617141 (3);617141;
EMG1Bowen-Conradi syndrome, 211180 (3);211180;
EML1Band heterotopia, 600348 (3);600348;
EOGTAdams-Oliver syndrome 4, 615297 (3);615297;
EPG5Vici syndrome, 242840 (3);242840;
ERCC1Cerebrooculofacioskeletal syndrome 4, 610758 (3);610758;
ERCC4?XFE progeroid syndrome, 610965 (3);Fanconi anemia, complementation group Q, 615272 (3);Xeroderma pigmentosum, group F, 278760 (3);Xeroderma pigmentosum, type F/Cockayne syndrome, 278760 (3);610965;615272;278760;278760;
ERMARD?Periventricular nodular heterotopia 6, 615544 (3);615544;
EVC?Weyers acrofacial dysostosis, 193530 (3);Ellis-van Creveld syndrome, 225500 (3);193530;225500;
EVC2Ellis-van Creveld syndrome, 225500 (3);Weyers acrofacial dysostosis, 193530 (3);225500;193530;
EXT2?Seizures, scoliosis, and macrocephaly syndrome, 616682 (3);Exostoses, multiple, type 2, 133701 (3);616682;133701;
EXTL3Immunoskeletal dysplasia with neurodevelopmental abnormalities, 617425 (3);617425;
FAAH2
FAM111AGracile bone dysplasia, 602361 (3);Kenny-Caffey syndrome, type 2, 127000 (3);602361;127000;
FAM20AAmelogenesis imperfecta, type IG (enamel-renal syndrome), 204690 (3);204690;
FASTKD2?Mitochondrial complex IV deficiency, 220110 (3);220110;
FGF12Epileptic encephalopathy, early infantile, 47, 617166 (3);617166;
FGF8Hypogonadotropic hypogonadism 6 with or without anosmia, 612702 (3);612702;
FIG4?Polymicrogyria, bilateral temporooccipital, 612691 (3);Amyotrophic lateral sclerosis 11, 612577 (3);Charcot-Marie-Tooth disease, type 4J, 611228 (3);Yunis-Varon syndrome, 216340 (3);612691;612577;611228;216340;
FLCNBirt-Hogg-Dube syndrome, 135150 (3);Colorectal cancer, somatic, 114500 (3);Pneumothorax, primary spontaneous, 173600 (3);Renal carcinoma, chromophobe, somatic, 144700 (3);135150;114500;173600;144700;
FLI1Bleeding disorder, platelet-type, 21, 617443 (3);617443;
FRG1
FRMPD4Mental retardation, X-linked 104, 300983 (3);300983;
FTLHyperferritinemia-cataract syndrome, 600886 (3);L-ferritin deficiency, dominant and recessive, 615604 (3);Neurodegeneration with brain iron accumulation 3, 606159 (3);600886;615604;606159;
G6PDHemolytic anemia, G6PD deficient (favism), 300908 (3);{Resistance to malaria due to G6PD deficiency}, 611162 (3);300908;611162;
GABBR2Epileptic encephalopathy, early infantile, 59, 617904 (3);Neurodevelopmental disorder with poor language and loss of hand skills, 617903 (3);{Nicotine dependence, protection against}, 188890 (3);{Nicotine dependence, susceptibility to}, 188890 (3);617904;617903;188890;188890;
GABRB1Epileptic encephalopathy, early infantile, 45, 617153 (3);617153;
GABRB2Epileptic encephalopathy, infantile or early childhood, 2, 617829 (3);617829;
GABRD{Epilepsy, generalized, with febrile seizures plus, type 5, susceptibility to}, 613060 (3);{Epilepsy, idiopathic generalized, 10}, 613060 (3);{Epilepsy, juvenile myoclonic, susceptibility to}, 613060 (3);613060;613060;613060;
GATA3Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255 (3);146255;
GATA4?Testicular anomalies with or without congenital heart disease, 615542 (3);Atrial septal defect 2, 607941 (3);Atrioventricular septal defect 4, 614430 (3);Tetralogy of Fallot, 187500 (3);Ventricular septal defect 1, 614429 (3);615542;607941;614430;187500;614429;
GATA6Atrial septal defect 9, 614475 (3);Atrioventricular septal defect 5, 614474 (3);Pancreatic agenesis and congenital heart defects, 600001 (3);Persistent truncus arteriosus, 217095 (3);Tetralogy of Fallot, 187500 (3);614475;614474;600001;217095;187500;
GBAGaucher disease, perinatal lethal, 608013 (3);Gaucher disease, type I, 230800 (3);Gaucher disease, type II, 230900 (3);Gaucher disease, type III, 231000 (3);Gaucher disease, type IIIC, 231005 (3);{Lewy body dementia, susceptibility to}, 127750 (3);{Parkinson disease, late-onset, susceptibility to}, 168600 (3);608013;230800;230900;231000;231005;127750;168600;
GCDHGlutaricaciduria, type I, 231670 (3);231670;
GCM2Hyperparathyroidism 4, 617343 (3);Hypoparathyroidism, familial isolated, 146200 (3);617343;146200;
GDF6Klippel-Feil syndrome 1, autosomal dominant, 118100 (3);Leber congenital amaurosis 17, 615360 (3);Microphthalmia with coloboma 6, digenic, 613703 (3);Microphthalmia, isolated 4, 613094 (3);Multiple synostoses syndrome 4, 617898 (3);118100;615360;613703;613094;617898;
GDNFCentral hypoventilation syndrome, 209880 (3);{Hirschsprung disease, susceptibility to, 3}, 613711 (3);{Pheochromocytoma, modifier of}, 171300 (3);209880;613711;171300;
GFM1Combined oxidative phosphorylation deficiency 1, 609060 (3);609060;
GJA1Atrioventricular septal defect 3, 600309 (3);Craniometaphyseal dysplasia, autosomal recessive, 218400 (3);Erythrokeratodermia variabilis et progressiva 3, 617525 (3);Hypoplastic left heart syndrome 1, 241550 (3);Oculodentodigital dysplasia, 164200 (3);Oculodentodigital dysplasia, autosomal recessive, 257850 (3);Palmoplantar keratoderma with congenital alopecia, 104100 (3);Syndactyly, type III, 186100 (3);600309;218400;617525;241550;164200;257850;104100;186100;
GLULGlutamine deficiency, congenital, 610015 (3);610015;
GNAQCapillary malformations, congenital, 1, somatic, mosaic, 163000 (3);Sturge-Weber syndrome, somatic, mosaic, 185300 (3);163000;185300;
GNB5Intellectual developmental disorder with cardiac arrhythmia, 617173 (3);Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, 617182 (3);617173;617182;
GNENonaka myopathy, 605820 (3);Sialuria, 269921 (3);605820;269921;
GP1BBBernard-Soulier syndrome, type B, 231200 (3);Giant platelet disorder, isolated, 231200 (3);231200;231200;
GPAA1Glycosylphosphatidylinositol biosynthesis defect 15, 617810 (3);617810;
GPC4
GPSM2Chudley-McCullough syndrome, 604213 (3);604213;
GRIA4Neurodevelopmental disorder with or without seizures and gait abnormalities, 617864 (3);617864;
GRIN2DEpileptic encephalopathy, early infantile, 46, 617162 (3);617162;
GRPR
GUCY2D?Central areolar choroidal dystrophy 1, 215500 (3);Cone-rod dystrophy 6, 601777 (3);Leber congenital amaurosis 1, 204000 (3);215500;601777;204000;
GUF1?Epileptic encephalopathy, early infantile, 40, 617065 (3);617065;
GYS2Glycogen storage disease 0, liver, 240600 (3);240600;
HADHAFatty liver, acute, of pregnancy, 609016 (3);HELLP syndrome, maternal, of pregnancy, 609016 (3);LCHAD deficiency, 609016 (3);Trifunctional protein deficiency, 609015 (3);609016;609016;609016;609015;
HADHBTrifunctional protein deficiency, 609015 (3);609015;
HECW2Neurodevelopmental disorder with hypotonia, seizures, and absent language, 617268 (3);617268;
HFE{HFE hemochromatosis, modifier of}, 235200 (3);Hemochromatosis, 235200 (3);[Transferrin serum level QTL2], 614193 (3);{Alzheimer disease, susceptibility to}, 104300 (3);{HFE hemochromatosis, modifier of}, 235200 (3);{Microvascular complications of diabetes 7}, 612635 (3);{Porphyria cutanea tarda, susceptibility to}, 176100 (3);{Porphyria variegata, susceptibility to}, 176200 (3);235200;235200;614193;104300;235200;612635;176100;176200;
HGSNATMucopolysaccharidosis type IIIC (Sanfilippo C), 252930 (3);Retinitis pigmentosa 73, 616544 (3);252930;616544;
HIBCH3-hydroxyisobutryl-CoA hydrolase deficiency, 250620 (3);250620;
HMBSPorphyria, acute intermittent, 176000 (3);Porphyria, acute intermittent, nonerythroid variant, 176000 (3);176000;176000;
HMGCLHMG-CoA lyase deficiency, 246450 (3);246450;
HNF1ADiabetes mellitus, insulin-dependent, 20, 612520 (3);Hepatic adenoma, somatic, 142330 (3);MODY, type III, 600496 (3);Renal cell carcinoma, 144700 (3);{Diabetes mellitus, insulin-dependent}, 222100 (3);{Diabetes mellitus, noninsulin-dependent, 2}, 125853 (3);612520;142330;600496;144700;222100;125853;
HNF1BDiabetes mellitus, noninsulin-dependent, 125853 (3);Renal cysts and diabetes syndrome, 137920 (3);{Renal cell carcinoma}, 144700 (3);125853;137920;144700;
HNF4AFanconi renotubular syndrome 4, with maturity-onset diabetes of the young, 616026 (3);MODY, type I, 125850 (3);{Diabetes mellitus, noninsulin-dependent}, 125853 (3);616026;125850;125853;
HNRNPH2Mental retardation, X-linked, syndromic, Bain type, 300986 (3);300986;
HTR2A{Alcohol dependence, susceptibility to}, 103780 (3);{Anorexia nervosa, susceptibility to}, 606788 (3);{Major depressive disorder, response to citalopram therapy in}, 608516 (3);{Obsessive-compulsive disorder, susceptibility to}, 164230 (3);{Schizophrenia, susceptibility to}, 181500 (3);{Seasonal affective disorder, susceptibility to}, 608516 (3);103780;606788;608516;164230;181500;608516;
HTTHuntington disease, 143100 (3);Lopes-Maciel-Rodan syndrome, 617435 (3);{Anxiety-related personality traits}, 607834 (3);{Obsessive-compulsive disorder}, 164230 (3);143100;617435;607834;164230;
HYLS1Hydrolethalus syndrome, 236680 (3);236680;
ICKEndocrine-cerebroosteodysplasia, 612651 (3);{Epilepsy, juvenile myoclonic, susceptibility to, 10}, 617924 (3);612651;617924;
IFNG{AIDS, rapid progression to}, 609423 (3);{Aplastic anemia}, 609135 (3);{Hepatitis C virus, response to therapy of}, 609532 (3);{TSC2 angiomyolipomas, renal, modifier of}, 613254 (3);{Tuberculosis, protection against}, 607948 (3);609423;609135;609532;613254;607948;
IFT140Retinitis pigmentosa 80, 617781 (3);Short-rib thoracic dysplasia 9 with or without polydactyly, 266920 (3);617781;266920;
IMPA1Mental retardation, autosomal recessive 59, 617323 (3);617323;
IMPDH1Leber congenital amaurosis 11, 613837 (3);Retinitis pigmentosa 10, 180105 (3);613837;180105;
INPP5KMuscular dystrophy, congenital, with cataracts and intellectual disability, 617404 (3);617404;
INSDiabetes mellitus, insulin-dependent, 2, 125852 (3);Diabetes mellitus, permanent neonatal, 606176 (3);Hyperproinsulinemia, 616214 (3);Maturity-onset diabetes of the young, type 10, 613370 (3);125852;606176;616214;613370;
INSRDiabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549 (3);Hyperinsulinemic hypoglycemia, familial, 5, 609968 (3);Leprechaunism, 246200 (3);Rabson-Mendenhall syndrome, 262190 (3);610549;609968;246200;262190;
IPW
IQCB1Senior-Loken syndrome 5, 609254 (3);609254;
ITGB6Amelogenesis imperfecta, type IH, 616221 (3);616221;
ITPAEpileptic encephalopathy, early infantile, 35, 616647 (3);[Inosine triphosphatase deficiency], 613850 (3);616647;613850;
KARS?Charcot-Marie-Tooth disease, recessive intermediate, B, 613641 (3);Deafness, autosomal recessive 89, 613916 (3);613641;613916;
KCNJ1Bartter syndrome, type 2, 241200 (3);241200;
KCNJ13Leber congenital amaurosis 16, 614186 (3);Snowflake vitreoretinal degeneration, 193230 (3);614186;193230;
KCNQ1Atrial fibrillation, familial, 3, 607554 (3);Jervell and Lange-Nielsen syndrome, 220400 (3);Long QT syndrome 1, 192500 (3);Short QT syndrome 2, 609621 (3);{Long QT syndrome 1, acquired, susceptibility to}, 192500 (3);607554;220400;192500;609621;192500;
KIAA0556Joubert syndrome 26, 616784 (3);616784;
KIAA0586Joubert syndrome 23, 616490 (3);Short-rib thoracic dysplasia 14 with polydactyly, 616546 (3);616490;616546;
KIAA1109Alkuraya-Kucinskas syndrome, 617822 (3);617822;
KIF5AMyoclonus, intractable, neonatal, 617235 (3);Spastic paraplegia 10, autosomal dominant, 604187 (3);{Amyotrophic lateral sclerosis, susceptibility to, 25}, 617921 (3);617235;604187;617921;
KLHL15Mental retardation, X-linked 103, 300982 (3);300982;
KLHL7Cold-induced sweating syndrome 3, 617055 (3);Retinitis pigmentosa 42, 612943 (3);617055;612943;
KLLNCowden syndrome 4, 615107 (3);615107;
LAGE3Galloway-Mowat syndrome 2, X-linked, 301006 (3);301006;
LAMB1Lissencephaly 5, 615191 (3);615191;
LARS?Infantile liver failure syndrome 1, 615438 (3);615438;
LAS1LWilson-Turner syndrome, 309585 (3);309585;
LBR?Reynolds syndrome, 613471 (3);Greenberg skeletal dysplasia, 215140 (3);Pelger-Huet anomaly with mild skeletal anomalies, 618019 (3);Pelger-Huet anomaly, 169400 (3);613471;215140;618019;169400;
LCA5Leber congenital amaurosis 5, 604537 (3);604537;
LETM1
LHX4Pituitary hormone deficiency, combined, 4, 262700 (3);262700;
LMBRD1Methylmalonic aciduria and homocystinuria, cblF type, 277380 (3);277380;
LMNACardiomyopathy, dilated, 1A, 115200 (3);Charcot-Marie-Tooth disease, type 2B1, 605588 (3);Emery-Dreifuss muscular dystrophy 2, AD, 181350 (3);Emery-Dreifuss muscular dystrophy 3, AR, 616516 (3);Heart-hand syndrome, Slovenian type, 610140 (3);Hutchinson-Gilford progeria, 176670 (3);Lipodystrophy, familial partial, type 2, 151660 (3);Malouf syndrome, 212112 (3);Mandibuloacral dysplasia, 248370 (3);Muscular dystrophy, congenital, 613205 (3);Muscular dystrophy, limb-girdle, type 1B, 159001 (3);Restrictive dermopathy, lethal, 275210 (3);115200;605588;181350;616516;610140;176670;151660;212112;248370;613205;159001;275210;
LMNB2?Epilepsy, progressive myoclonic, 9, 616540 (3);{Lipodystrophy, partial, acquired, susceptibility to}, 608709 (3);616540;608709;
LRATLeber congenital amaurosis 14, 613341 (3);Retinal dystrophy, early-onset severe, 613341 (3);Retinitis pigmentosa, juvenile, 613341 (3);613341;613341;613341;
LRP1?Keratosis pilaris atrophicans, 604093 (3);604093;
LYSTChediak-Higashi syndrome, 214500 (3);214500;
MAFAyme-Gripp syndrome, 601088 (3);Cataract 21, multiple types, 610202 (3);601088;610202;
MAFBDuane retraction syndrome 3, 617041 (3);Multicentric carpotarsal osteolysis syndrome, 166300 (3);617041;166300;
MAGI2Nephrotic syndrome 15, 617609 (3);617609;
MAOB
MAPK10
MAPTDementia, frontotemporal, with or without parkinsonism, 600274 (3);Pick disease, 172700 (3);Supranuclear palsy, progressive atypical, 260540 (3);Supranuclear palsy, progressive, 601104 (3);{Parkinson disease, susceptibility to}, 168600 (3);600274;172700;260540;601104;168600;
MBOAT7Mental retardation, autosomal recessive 57, 617188 (3);617188;
MCM8?Premature ovarian failure 10, 612885 (3);612885;
MDH2Epileptic encephalopathy, early infantile, 51, 617339 (3);617339;
MED25?Charcot-Marie-Tooth disease, type 2B2, 605589 (3);Basel-Vanagait-Smirin-Yosef syndrome, 616449 (3);605589;616449;
MEIS2Cleft palate, cardiac defects, and mental retardation, 600987 (3);600987;
MFFEncephalopathy due to defective mitochondrial and peroxisomal fission 2, 617086 (3);617086;
MFSD2AMicrocephaly 15, primary, autosomal recessive, 616486 (3);616486;
MGPKeutel syndrome, 245150 (3);245150;
MIPEPCombined oxidative phosphorylation deficiency 31, 617228 (3);617228;
MKRN3Precocious puberty, central, 2, 615346 (3);615346;
MKS1Bardet-Biedl syndrome 13, 615990 (3);Joubert syndrome 28, 617121 (3);Meckel syndrome 1, 249000 (3);615990;617121;249000;
MLH1Colorectal cancer, hereditary nonpolyposis, type 2, 609310 (3);Mismatch repair cancer syndrome, 276300 (3);Muir-Torre syndrome, 158320 (3);609310;276300;158320;
MPC1Mitochondrial pyruvate carrier deficiency, 614741 (3);614741;
MPOMyeloperoxidase deficiency, 254600 (3);{Alzheimer disease, susceptibility to}, 104300 (3);{Lung cancer, protection against, in smokers} (3);254600;104300;
MSH2Colorectal cancer, hereditary nonpolyposis, type 1, 120435 (3);Mismatch repair cancer syndrome, 276300 (3);Muir-Torre syndrome, 158320 (3);120435;276300;158320;
MSH6Colorectal cancer, hereditary nonpolyposis, type 5, 614350 (3);Endometrial cancer, familial, 608089 (3);Mismatch repair cancer syndrome, 276300 (3);614350;608089;276300;
MSX2Craniosynostosis 2, 604757 (3);Parietal foramina 1, 168500 (3);Parietal foramina with cleidocranial dysplasia, 168550 (3);604757;168500;168550;
MTFMTCombined oxidative phosphorylation deficiency 15, 614947 (3);614947;
MTM1Myotubular myopathy, X-linked, 310400 (3);310400;
MTO1Combined oxidative phosphorylation deficiency 10, 614702 (3);614702;
MYH10
MYH11Aortic aneurysm, familial thoracic 4, 132900 (3);132900;
MYH3Arthrogryposis, distal, type 2A, 193700 (3);Arthrogryposis, distal, type 2B, 601680 (3);Arthrogryposis, distal, type 8, 178110 (3);193700;601680;178110;
NACC1Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination, 617393 (3);617393;
NADK2?2,4-dienoyl-CoA reductase deficiency, 616034 (3);616034;
NARS2Combined oxidative phosphorylation deficiency 24, 616239 (3);616239;
NAT8L?N-acetylaspartate deficiency, 614063 (3);614063;
NDNPrader-Willi syndrome, 176270 (3);176270;
NDUFA10Leigh syndrome, 256000 (3);256000;
NDUFA2Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3);256000;
NDUFA9Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3);256000;
NDUFAF6Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3);256000;
NDUFB11?Mitochondrial complex I deficiency, 252010 (3);Linear skin defects with multiple congenital anomalies 3, 300952 (3);252010;300952;
NECTIN1Cleft lip/palate-ectodermal dysplasia syndrome, 225060 (3);Orofacial cleft 7, 225060 (3);225060;225060;
NF2Meningioma, NF2-related, somatic, 607174 (3);Neurofibromatosis, type 2, 101000 (3);Schwannomatosis, somatic, 162091 (3);607174;101000;162091;
NFKB2Immunodeficiency, common variable, 10, 615577 (3);615577;
NIN?Seckel syndrome 7, 614851 (3);614851;
NMNAT1Leber congenital amaurosis 9, 608553 (3);608553;
NOS3{Alzheimer disease, late-onset, susceptibility to}, 104300 (3);{Coronary artery spasm 1, susceptibility to} (3);{Hypertension, pregnancy-induced}, 189800 (3);{Hypertension, susceptibility to}, 145500 (3);{Ischemic stroke, susceptibility to}, 601367 (3);{Placental abruption} (3);104300;to};189800;145500;601367;
NOTCH1Adams-Oliver syndrome 5, 616028 (3);Aortic valve disease 1, 109730 (3);616028;109730;
NOTCH2Alagille syndrome 2, 610205 (3);Hajdu-Cheney syndrome, 102500 (3);610205;102500;
NOTCH3?Myofibromatosis, infantile 2, 615293 (3);Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, 125310 (3);Lateral meningocele syndrome, 130720 (3);615293;125310;130720;
NPAP1
NPC1Niemann-Pick disease, type C1, 257220 (3);Niemann-Pick disease, type D, 257220 (3);{Nasopharyngeal carcinoma 1} (2);257220;257220;
NPC2Niemann-pick disease, type C2, 607625 (3);607625;
NPRL2Epilepsy, familial focal, with variable foci 2, 617116 (3);617116;
NPRL3Epilepsy, familial focal, with variable foci 3, 617118 (3);617118;
NTRK2Epileptic encephalopathy, early infantile, 58, 617830 (3);Obesity, hyperphagia, and developmental delay, 613886 (3);617830;613886;
NUP107Nephrotic syndrome, type 11, 616730 (3);616730;
NUS1?Congenital disorder of glycosylation, type 1aa, 617082 (3);Mental retardation, autosomal dominant 55, with seizures, 617831 (3);617082;617831;
ORAI1Immunodeficiency 9, 612782 (3);Myopathy, tubular aggregate, 2, 615883 (3);612782;615883;
OSGEPGalloway-Mowat syndrome 3, 617729 (3);617729;
OTUD6BIntellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, 617452 (3);617452;
OTX2Microphthalmia, syndromic 5, 610125 (3);Pituitary hormone deficiency, combined, 6, 613986 (3);Retinal dystrophy, early-onset, with or without pituitary dysfunction, 610125 (3);610125;613986;610125;
PARNDyskeratosis congenita, autosomal recessive 6, 616353 (3);Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, 616371 (3);616353;616371;
PARS2
PAX2Glomerulosclerosis, focal segmental, 7, 616002 (3);Papillorenal syndrome, 120330 (3);616002;120330;
PCCAPropionicacidemia, 606054 (3);606054;
PCCBPropionicacidemia, 606054 (3);606054;
PCDH12Microcephaly, seizures, spasticity, and brain calcification, 251280 (3);251280;
PCK1?Phosphoenolpyruvate carboxykinase deficiency, cytosolic, 261680 (3);261680;
PCLO?Pontocerebellar hypoplasia, type 3, 608027 (3);608027;
PCYT1ASpondylometaphyseal dysplasia with cone-rod dystrophy, 608940 (3);608940;
PDE10ADyskinesia, limb and orofacial, infantile-onset, 616921 (3);Striatal degeneration, autosomal dominant, 616922 (3);616921;616922;
PDGFRBBasal ganglia calcification, idiopathic, 4, 615007 (3);Kosaki overgrowth syndrome, 616592 (3);Myeloproliferative disorder with eosinophilia, 131440 (4);Myofibromatosis, infantile, 1, 228550 (3);Premature aging syndrome, Penttinen type, 601812 (3);615007;616592;131440;228550;601812;
PDHXLacticacidemia due to PDX1 deficiency, 245349 (3);245349;
PGM3Immunodeficiency 23, 615816 (3);615816;
PHKG2Cirrhosis due to liver phosphorylase kinase deficiency (3);Glycogen storage disease IXc, 613027 (3);deficiency;613027;
PHOX2BCentral hypoventilation syndrome, congenital, with or without Hirschsprung disease, 209880 (3);Neuroblastoma with Hirschsprung disease, 613013 (3);{Neuroblastoma, susceptibility to, 2}, 613013 (3);209880;613013;613013;
PIBF1Joubert syndrome 33, 617767 (3);617767;
PIEZO1Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380 (3);Lymphedema, hereditary, III, 616843 (3);194380;616843;
PIEZO2?Marden-Walker syndrome, 248700 (3);Arthrogryposis, distal, type 3, 114300 (3);Arthrogryposis, distal, type 5, 108145 (3);Arthrogryposis, distal, with impaired proprioception and touch, 617146 (3);248700;114300;108145;617146;
PIGCGlycosylphosphatidylinositol biosynthesis defect 16, 617816 (3);617816;
PIGMGlycosylphosphatidylinositol deficiency, 610293 (3);610293;
PIGWGlycosylphosphatidylinositol biosynthesis defect 11, 616025 (3);616025;
PIK3CABreast cancer, somatic, 114480 (3);CLOVE syndrome, somatic, 612918 (3);Colorectal cancer, somatic, 114500 (3);Cowden syndrome 5, 615108 (3);Gastric cancer, somatic, 613659 (3);Hepatocellular carcinoma, somatic, 114550 (3);Keratosis, seborrheic, somatic, 182000 (3);Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, 602501 (3);Nevus, epidermal, somatic, 162900 (3);Nonsmall cell lung cancer, somatic, 211980 (3);Ovarian cancer, somatic, 167000 (3);114480;612918;114500;615108;613659;114550;182000;602501;162900;211980;167000;
PLAGL1{Diabetes mellitus, transient neonatal}, 601410 (1);601410;
PLAUQuebec platelet disorder, 601709 (3);{Alzheimer disease, late-onset, susceptibility to}, 104300 (3);601709;104300;
PLEKHG2Leukodystrophy and acquired microcephaly with or without dystonia, 616763 (3);616763;
PLGDysplasminogenemia, 217090 (3);Plasminogen deficiency, type I, 217090 (3);217090;217090;
PLK4Microcephaly and chorioretinopathy, autosomal recessive, 2, 616171 (3);616171;
PMS2Colorectal cancer, hereditary nonpolyposis, type 4, 614337 (3);Mismatch repair cancer syndrome, 276300 (3);614337;276300;
POLA1Pigmentary disorder, reticulate, with systemic manifestations, X-linked, 301220 (3);301220;
POLG2Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, 610131 (3);610131;
PPP1R15BMicrocephaly, short stature, and impaired glucose metabolism 2, 616817 (3);616817;
PPP3CAEpileptic encephalopathy, infantile or early childhood, 1, 617711 (3);617711;
PRDM16Cardiomyopathy, dilated, 1LL, 615373 (3);Left ventricular noncompaction 8, 615373 (3);615373;615373;
PRDX1Methylmalonic aciduria and homocystinuria, cblC type, digenic, 277400 (3);277400;
PREPL?Myasthenic syndrome, congenital, 22, 616224 (3);616224;
PRF1Aplastic anemia, 609135 (3);Hemophagocytic lymphohistiocytosis, familial, 2, 603553 (3);Lymphoma, non-Hodgkin, 605027 (3);609135;603553;605027;
PRKDCImmunodeficiency 26, with or without neurologic abnormalities, 615966 (3);615966;
PRMT7Short stature, brachydactyly, intellectual developmental disability, and seizures, 617157 (3);617157;
PRNPCerebral amyloid angiopathy, PRNP-related, 137440 (3);Creutzfeldt-Jakob disease, 123400 (3);Gerstmann-Straussler disease, 137440 (3);Huntington disease-like 1, 603218 (3);Insomnia, fatal familial, 600072 (3);Prion disease with protracted course, 606688 (3);{Kuru, susceptibility to}, 245300 (3);137440;123400;137440;603218;600072;606688;245300;
PROCThrombophilia due to protein C deficiency, autosomal dominant, 176860 (3);Thrombophilia due to protein C deficiency, autosomal recessive, 612304 (3);176860;612304;
PROKR2Hypogonadotropic hypogonadism 3 with or without anosmia, 244200 (3);244200;
PROP1Pituitary hormone deficiency, combined, 2, 262600 (3);262600;
PROSCEpilepsy, early-onset, vitamin B6-dependent, 617290 (3);617290;
PSAT1?Phosphoserine aminotransferase deficiency, 610992 (3);Neu-Laxova syndrome 2, 616038 (3);610992;616038;
PSMB8Autoinflammation, lipodystrophy, and dermatosis syndrome, 256040 (3);256040;
PSPHPhosphoserine phosphatase deficiency, 614023 (3);614023;
PTHHypoparathyroidism, autosomal dominant, 146200 (3);Hypoparathyroidism, autosomal recessive, 146200 (3);146200;146200;
PWAR1
RAC1Mental retardation, autosomal dominant 48, 617751 (3);617751;
RANBP2{Encephalopathy, acute, infection-induced, 3, susceptibility to}, 608033 (3);608033;
RBFOX1
RBM8AThrombocytopenia-absent radius syndrome, 274000 (3);274000;
RD3Leber congenital amaurosis 12, 610612 (3);610612;
RDH12Leber congenital amaurosis 13, 612712 (3);612712;
RECQL4Baller-Gerold syndrome, 218600 (3);RAPADILINO syndrome, 266280 (3);Rothmund-Thomson syndrome, 268400 (3);218600;266280;268400;
RESTFibromatosis, gingival, 5, 617626 (3);{Wilms tumor 6, susceptibility to}, 616806 (3);617626;616806;
RETCentral hypoventilation syndrome, congenital, 209880 (3);Medullary thyroid carcinoma, 155240 (3);Multiple endocrine neoplasia IIA, 171400 (3);Multiple endocrine neoplasia IIB, 162300 (3);Pheochromocytoma, 171300 (3);{Hirschsprung disease, protection against}, 142623 (3);{Hirschsprung disease, susceptibility to, 1}, 142623 (3);209880;155240;171400;162300;171300;142623;142623;
RNF125Tenorio syndrome, 616260 (3);616260;
RNF213{Moyamoya disease 2, susceptibility to}, 607151 (3);607151;
RPE65Leber congenital amaurosis 2, 204100 (3);Retinitis pigmentosa 20, 613794 (3);204100;613794;
RPGRIP1Cone-rod dystrophy 13, 608194 (3);Leber congenital amaurosis 6, 613826 (3);608194;613826;
RPIA?Ribose 5-phosphate isomerase deficiency, 608611 (3);608611;
RTN4IP1Optic atrophy 10 with or without ataxia, mental retardation, and seizures, 616732 (3);616732;
RTN4R{Schizophrenia, susceptibility to}, 181500 (3);181500;
RXYLT1Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, 615041 (3);615041;
RYR1Central core disease, 117000 (3);King-Denborough syndrome, 145600 (3);Minicore myopathy with external ophthalmoplegia, 255320 (3);Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 (3);{Malignant hyperthermia susceptibility 1}, 145600 (3);117000;145600;255320;117000;145600;
SACSSpastic ataxia, Charlevoix-Saguenay type, 270550 (3);270550;
SAMD9MIRAGE syndrome, 617053 (3);Tumoral calcinosis, familial, normophosphatemic, 610455 (3);617053;610455;
SARDH[Sarcosinemia], 268900 (3);268900;
SARS{SARS, progression of} (3);?Neurodevelopmental disorder with microcephaly, ataxia, and seizures, 617709 (3);SARS infection, protection against (2);{SARS, progression of} (3);617709;
SASS6?Microcephaly 14, primary, autosomal recessive, 616402 (3);616402;
SCN3AEpilepsy, familial focal, with variable foci 4, 617935 (3);Epileptic encephalopathy, early infantile, 62, 617938 (3);617935;617938;
SCN4AHyperkalemic periodic paralysis, type 2, 170500 (3);Hypokalemic periodic paralysis, type 2, 613345 (3);Myasthenic syndrome, congenital, 16, 614198 (3);Myotonia congenita, atypical, acetazolamide-responsive, 608390 (3);Paramyotonia congenita, 168300 (3);170500;613345;614198;608390;168300;
SCN9AEpilepsy, generalized, with febrile seizures plus, type 7, 613863 (3);Erythermalgia, primary, 133020 (3);Febrile seizures, familial, 3B, 613863 (3);HSAN2D, autosomal recessive, 243000 (3);Insensitivity to pain, congenital, 243000 (3);Paroxysmal extreme pain disorder, 167400, (3);Small fiber neuropathy, 133020 (3);{Dravet syndrome, modifier of}, 607208 (3);613863;133020;613863;243000;243000;167400,;133020;607208;
SCO1Mitochondrial complex IV deficiency, 220110 (3);220110;
SDHBCowden syndrome 2, 612359 (3);Gastrointestinal stromal tumor, 606764 (3);Paraganglioma and gastric stromal sarcoma, 606864 (3);Paragangliomas 4, 115310 (3);Pheochromocytoma, 171300 (3);612359;606764;606864;115310;171300;
SDHCGastrointestinal stromal tumor, 606764 (3);Paraganglioma and gastric stromal sarcoma, 606864 (3);Paragangliomas 3, 605373 (3);606764;606864;605373;
SDHDCarcinoid tumors, intestinal, 114900 (3);Cowden syndrome 3, 615106 (3);Merkel cell carcinoma, somatic (3);Mitochondrial complex II deficiency, 252011 (3);Paraganglioma and gastric stromal sarcoma, 606864 (3);Paragangliomas 1, with or without deafness, 168000 (3);Pheochromocytoma, 171300 (3);114900;615106;252011;606864;168000;171300;
SEC23BCowden syndrome 7, 616858 (3);Dyserythropoietic anemia, congenital, type II, 224100 (3);616858;224100;
SLC12A1Bartter syndrome, type 1, 601678 (3);601678;
SLC12A5Epileptic encephalopathy, early infantile, 34, 616645 (3);{Epilepsy, idiopathic generalized, susceptibility to, 14}, 616685 (3);616645;616685;
SLC18A3Myasthenic syndrome, congenital, 21, presynaptic, 617239 (3);617239;
SLC19A2Thiamine-responsive megaloblastic anemia syndrome, 249270 (3);249270;
SLC1A2Epileptic encephalopathy, early infantile, 41, 617105 (3);617105;
SLC1A3Episodic ataxia, type 6, 612656 (3);612656;
SLC20A2Basal ganglia calcification, idiopathic, 1, 213600 (3);213600;
SLC25A19Microcephaly, Amish type, 607196 (3);Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 (3);607196;613710;
SLC25A20Carnitine-acylcarnitine translocase deficiency, 212138 (3);212138;
SLC25A46Neuropathy, hereditary motor and sensory, type VIB, 616505 (3);616505;
SLC26A4Deafness, autosomal recessive 4, with enlarged vestibular aqueduct, 600791 (3);Pendred syndrome, 274600 (3);600791;274600;
SLC35A1Congenital disorder of glycosylation, type IIf, 603585 (3);603585;
SLC35A3?Arthrogryposis, mental retardation, and seizures, 615553 (3);615553;
SLC36A2Hyperglycinuria, 138500 (3);Iminoglycinuria, digenic, 242600 (3);138500;242600;
SLC3A1Cystinuria, 220100 (3);220100;
SLC45A1Intellectual developmental disorder with neuropsychiatric features, 617532 (3);617532;
SLC46A1Folate malabsorption, hereditary, 229050 (3);229050;
SLC4A10
SLC52A2Brown-Vialetto-Van Laere syndrome 2, 614707 (3);614707;
SLC52A3?Fazio-Londe disease, 211500 (3);Brown-Vialetto-Van Laere syndrome 1, 211530 (3);211500;211530;
SLC5A7Myasthenic syndrome, congenital, 20, presynaptic, 617143 (3);Neuronopathy, distal hereditary motor, type VIIA, 158580 (3);617143;158580;
SLC6A19Hartnup disorder, 234500 (3);Hyperglycinuria, 138500 (3);Iminoglycinuria, digenic, 242600 (3);234500;138500;242600;
SLC6A20Hyperglycinuria, 138500 (3);Iminoglycinuria, digenic, 242600 (3);138500;242600;
SLC6A5Hyperekplexia 3, 614618 (3);614618;
SLC6A9Glycine encephalopathy with normal serum glycine, 617301 (3);617301;
SLC9A1?Lichtenstein-Knorr syndrome, 616291 (3);616291;
SLC9A9{?Autism susceptibility 16}, 613410 (3);613410;
SMARCAL1Schimke immunoosseous dysplasia, 242900 (3);242900;
SMG9Heart and brain malformation syndrome, 616920 (3);616920;
SNAP25?Myasthenic syndrome, congenital, 18, 616330 (3);616330;
SPASTSpastic paraplegia 4, autosomal dominant, 182601 (3);182601;
SPATA7Leber congenital amaurosis 3, 604232 (3);Retinitis pigmentosa, juvenile, autosomal recessive, 604232 (3);604232;604232;
SPINK5Netherton syndrome, 256500 (3);256500;
SPRDystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716 (3);612716;
SRGAP2
SSR4Congenital disorder of glycosylation, type Iy, 300934 (3);300934;
STAT3Autoimmune disease, multisystem, infantile-onset, 1, 615952 (3);Hyper-IgE recurrent infection syndrome, 147060 (3);615952;147060;
STRADAPolyhydramnios, megalencephaly, and symptomatic epilepsy, 611087 (3);611087;
STSIchthyosis, X-linked, 308100 (3);308100;
STUB1Spinocerebellar ataxia, autosomal recessive 16, 615768 (3);615768;
STX11Hemophagocytic lymphohistiocytosis, familial, 4, 603552 (3);603552;
SUMF1Multiple sulfatase deficiency, 272200 (3);272200;
SYN2{Schizophrenia, susceptibility to}, 181500 (3);181500;
SYNJ1Epileptic encephalopathy, early infantile, 53, 617389 (3);Parkinson disease 20, early-onset, 615530 (3);617389;615530;
SYT2Myasthenic syndrome, congenital, 7, presynaptic, 616040 (3);616040;
TACO1Mitochondrial complex IV deficiency, 220110 (3);220110;
TANGO2Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, 616878 (3);616878;
TBCDEncephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, 617193 (3);617193;
TBPSpinocerebellar ataxia 17, 607136 (3);{Parkinson disease, susceptibility to}, 168600 (3);607136;168600;
TBX1Conotruncal anomaly face syndrome, 217095 (3);DiGeorge syndrome, 188400 (3);Tetralogy of Fallot, 187500 (3);Velocardiofacial syndrome, 192430 (3);217095;188400;187500;192430;
TCTN1
TCTN2?Meckel syndrome 8, 613885 (3);Joubert syndrome 24, 616654 (3);613885;616654;
TECPR2Spastic paraplegia 49, autosomal recessive, 615031 (3);615031;
TGDSCatel-Manzke syndrome, 616145 (3);616145;
TIMMDC1Mitochondrial complex I deficiency, 252010 (3);252010;
TK2?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, 617069 (3);Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560 (3);617069;609560;
TLR3{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 2}, 613002 (3);{HIV1 infection, resistance to}, 609423 (3);613002;609423;
TMEM106BLeukodystrophy, hypomyelinating, 16, 617964 (3);617964;
TMEM126BMitochondrial complex I deficiency, 252010 (3);252010;
TMEM138Joubert syndrome 16, 614465 (3);614465;
TMEM216Joubert syndrome 2, 608091 (3);Meckel syndrome 2, 603194 (3);608091;603194;
TMTC3Lissencephaly 8, 617255 (3);617255;
TNK2
TOE1Pontocerebellar hypoplasia, type 7, 614969 (3);614969;
TP53RKGalloway-Mowat syndrome 4, 617730 (3);617730;
TPK1Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458 (3);614458;
TPRKBGalloway-Mowat syndrome 5, 617731 (3);617731;
TRAPPC6BNeurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, 617862 (3);617862;
TRIP13Mosaic variegated aneuploidy syndrome 3, 617598 (3);617598;
TRNT1Retinitis pigmentosa and erythrocytic microcytosis, 616959 (3);Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, 616084 (3);616959;616084;
TRPV3?Palmoplantar keratoderma, nonepidermolytic, focal 2, 616400 (3);Olmsted syndrome, 614594 (3);616400;614594;
TSEN15Pontocerebellar hypoplasia, type 2F, 617026 (3);617026;
TSFMCombined oxidative phosphorylation deficiency 3, 610505 (3);610505;
TULP1Leber congenital amaurosis 15, 613843 (3);Retinitis pigmentosa 14, 600132 (3);613843;600132;
TXN2?Combined oxidative phosphorylation deficiency 29, 616811 (3);616811;
UBA1Spinal muscular atrophy, X-linked 2, infantile, 301830 (3);301830;
UBA5?Spinocerebellar ataxia, autosomal recessive 24, 617133 (3);Epileptic encephalopathy, early infantile, 44, 617132 (3);617133;617132;
UBBCleft palate, isolated, 119540 (2);119540;
UCP2{Obesity, susceptibility to, BMIQ4}, 607447 (3);607447;
UGT1A1Crigler-Najjar syndrome, type I, 218800 (3);Crigler-Najjar syndrome, type II, 606785 (3);Hyperbilirubinemia, familial transient neonatal, 237900 (3);[Bilirubin, serum level of, QTL1], 601816 (3);[Gilbert syndrome], 143500 (3);218800;606785;237900;601816;143500;
UQCC2?Mitochondrial complex III deficiency, nuclear type 7, 615824 (3);615824;
UQCC3?Mitochondrial complex III deficiency, nuclear type 9, 616111 (3);616111;
VAMP1Spastic ataxia 1, autosomal dominant, 108600 (3);108600;
VARSNeurodevelopmental disorder with microcephaly, seizures, and cortical atrophy, 617802 (3);617802;
VARS2Combined oxidative phosphorylation deficiency 20, 615917 (3);Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy, 617802 (3);615917;617802;
VCPAmyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954 (3);Charcot-Marie-Tooth disease, type 2Y, 616687 (3);Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, 167320 (3);613954;616687;167320;
VPS11Leukodystrophy, hypomyelinating, 12, 616683 (3);616683;
WARS2Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, 617710 (3);617710;
WDR11Hypogonadotropic hypogonadism 14 with or without anosmia, 614858 (3);614858;
WFS1?Cataract 41, 116400 (3);Deafness, autosomal dominant 6/14/38, 600965 (3);Wolfram syndrome 1, 222300 (3);Wolfram-like syndrome, autosomal dominant, 614296 (3);{Diabetes mellitus, noninsulin-dependent, association with}, 125853 (3);116400;600965;222300;614296;125853;
XPCXeroderma pigmentosum, group C, 278720 (3);278720;
YWHAGEpileptic encephalopathy, early infantile, 56, 617665 (3);617665;
ZC4H2Wieacker-Wolff syndrome, 314580 (3);314580;
ZFP57Diabetes mellitus, transient neonatal, 1, 601410 (3);601410;
ZNF423Joubert syndrome 19, 614844 (3);Nephronophthisis 14, 614844 (3);614844;614844;
ZNHIT3PEHO syndrome, 260565 (3);260565;
A2ML1Noonan-like syndrome (Vissers et al, 2015) ; Noonan syndrome (van Trier -2015 Int J Pediatr Otorhinolaryngol, epub); Otitis media, susceptibility to (Santos-Cortez -2015 Nat Genet 47,917)NoOMIMPhenotype
ABCC9Atrial fibrillation, familial, 12 ; Cardiomyopathy, dilated, 1O; Hypertrichotic osteochondrodysplasia614050; 608569; 239850
ABCD1Adrenoleukodystrophy; Adrenomyeloneuropathy, adult300100
ABCD4Methylmalonic aciduria and homocystinuria, cblJ type614857
ABHD5Chanarin-Dorfman syndrome275630
ACAD9Mitochondrial complex I deficiency due to ACAD9 deficiency611126
ACO2Infantile cerebellar-retinal degeneration; ?Optic atrophy 9614559; 616289
ACOX1Peroxisomal acyl-CoA oxidase deficiency264470
ACSF3Combined malonic and methylmalonic aciduria614265
ACSL4Mental retardation, X-linked 63300387
ACTG1Baraitser-Winter syndrome 2 ; Deafness, autosomal dominant 20/26614583; 604717
ACVR1Fibrodysplasia ossificans progressiva135100
ADARAicardi-Goutieres syndrome 6 ; Dyschromatosis symmetrica hereditaria615010; 127400
ADAT3Mental retardation, autosomal recessive 36615286
ADKHypermethioninemia due to adenosine kinase deficiency614300
ADNPHelsmoortel-van der Aa syndrome615873
AFF2Mental retardation, X-linked, FRAXE type309548
AFF4CHOPS syndrome616368
AGAAspartylglucosaminuria208400
AGPAT2Lipodystrophy, congenital generalized, type 1608594
AHCYHypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase613752
AHDC1Xia-Gibbs syndrome615829
AHI1Joubert syndrome-3608629
AIFM1Combined oxidative phosphorylation deficiency 6 ; Cowchock syndrome; Deafness, X-linked 5300816; 310490; 300614
AIMP1Leukodystrophy, hypomyelinating, 3260600
AK1Hemolytic anemia due to adenylate kinase deficiency612631
AKT3Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2615937
ALDH18A1Cutis laxa, autosomal dominant 3 ; Cutis laxa, autosomal recessive, type IIIA; Spastic paraplegia 9A, autosomal dominant; Spastic paraplegia 9B, autosomal recessive616603; 219150; 601162; 616586
ALDH3A2Sjogren-Larsson syndrome270200
ALDH4A1Hyperprolinemia, type II239510
ALDH5A1Succinic semialdehyde dehydrogenase deficiency271980
ALG12Congenital disorder of glycosylation, type Ig607143
ALG2Myasthenic syndrome, congenital, 14 with tubular aggregates; ?Congenital disorder of glycosylation, type Ii616228; 607906
ALG9Congenital disorder of glycosylation, type Il; Gillessen-Kaesbach-Nishimura syndrome608776; 263210
ALMS1Alstrom syndrome203800
ALX1?Frontonasal dysplasia 3613456
ALX4Frontonasal dysplasia 2 ; Parietal foramina 2 ; {Craniosynostosis 5 susceptibility to}613451; 609597; 615529
AMPD2Pontocerebellar hypoplasia, type 9 ; ?Spastic paraplegia 63615809; 615686
ANK3?Mental retardation, autosomal recessive, 37615493
ANKHChondrocalcinosis 2 ; Craniometaphyseal dysplasia118600; 123000
ANKRD11KBG syndrome148050
ANO10Spinocerebellar ataxia, autosomal recessive 10613728
ANTXR1GAPO syndrome; {Hemangioma, capillary infantile, susceptibility to}230740; 602089
AP1S2Mental retardation, X-linked syndromic 5304340
AP3B1Hermansky-Pudlak syndrome 2608233
AP4B1Spastic paraplegia 47 autosomal recessive614066
AP4E1Spastic paraplegia 51 autosomal recessive; Stuttering, familial persistent, 1613744; 184450
AP4M1Spastic paraplegia 50 autosomal recessive612936
AP4S1Spastic paraplegia 52 autosomal recessive614067
APTXAtaxia, early-onset, with oculomotor apraxia and hypoalbuminemia208920
ARFGEF2Periventricular heterotopia with microcephaly608097
ARG1Argininemia207800
ARHGAP31Adams-Oliver syndrome 1100300
ARHGEF6Mental retardation, X-linked 46300436
ARID1ACoffin-Siris syndrome 2614607
ARID1BCoffin-Siris syndrome 1135900
ARL13BJoubert syndrome 8612291
ARL6Bardet-Biedl syndrome 3 ; ?Retinitis pigmentosa 55 ; {Bardet-Biedl syndrome 1 modifier of}600151; 613575; 209900
ARSEChondrodysplasia punctata, X-linked recessive302950
ASLArgininosuccinic aciduria207900
ASNSAsparagine synthetase deficiency615574
ASPACanavan disease271900
ASPMMicrocephaly 5 primary, autosomal recessive608716
ASXL1Bohring-Opitz syndrome; Myelodysplastic syndrome, somatic605039; 614286
ASXL3Bainbridge-Ropers syndrome615485
ATCAYAtaxia, cerebellar, Cayman type601238
ATICAICA-ribosiduria due to ATIC deficiency608688
ATP2A2Acrokeratosis verruciformis; Darier disease101900; 124200
ATP6V0A2Cutis laxa, autosomal recessive, type IIA; Wrinkly skin syndrome219200; 278250
ATP8A2?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4615268
ATPAF2Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1604273
ATRSeckel syndrome 1 ; ?Cutaneous telangiectasia and cancer syndrome, familial210600; 614564
AUH3-methylglutaconic aciduria, type I250950
B3GALNT2Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11615181
B3GALTLPeters-plus syndrome (B3GALTL alias B3GLCT)261540
B3GNT1Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 (B3GNT1 alias B3GNT6)615287
B4GALT1Congenital disorder of glycosylation, type IId607091
B4GALT7Ehlers-Danlos syndrome with short stature and limb anomalies130070
BBS1Bardet-Biedl syndrome 1209900
BBS10Bardet-Biedl syndrome 10615987
BBS12Bardet-Biedl syndrome 12615989
BBS2Bardet-Biedl syndrome 2 ; Retinitis pigmentosa 74615981; 616562
BBS4Bardet-Biedl syndrome 4615982
BBS5Bardet-Biedl syndrome 5615983
BBS7Bardet-Biedl syndrome 7615984
BBS9Bardet-Biedl syndrome 9615986
BCAP31Deafness, dystonia, and cerebral hypomyelination300475
BCKDHAMaple syrup urine disease, type Ia248600
BCKDHBMaple syrup urine disease, type Ib248600
BCL11AIntellectual development disorder with persistence of fetal hemoglobin617101
BCORMicrophthalmia, syndromic 2300166
BCS1LBjornstad syndrome; GRACILE syndrome; Leigh syndrome; Mitochondrial complex III deficiency, nuclear type 1262000; 603358; 256000; 124000
BLMBloom syndrome210900
BRAFAdenocarcinoma of lung, somatic; Cardiofaciocutaneous syndrome; Colorectal cancer, somatic ; LEOPARD syndrome 3 ; Melanoma, malignant, somatic ; Nonsmall cell lung cancer, somatic ; Noonan syndrome 7211980; 115150; -; 613707; 613706
BRF1Cerebellofaciodental syndrome616202
BRWD3Mental retardation, X-linked 93300659
BSCL2Encephalopathy, progressive, with or without lipodystrophy; Lipodystrophy, congenital generalized, type 2 ; Neuropathy, distal hereditary motor, type VA; Silver spastic paraplegia syndrome615924; 269700; 600794; 270685
BUB1BColorectal cancer, somatic; Mosaic variegated aneuploidy syndrome 1 ; [Premature chromatid separation trait]114500; 257300; 176430
C10orf2Mitochondrial DNA depletion syndrome 7 (hepatocerebral type); Perrault syndrome 5 ; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3271245; 616138; 609286
C12orf57Temtamy syndrome218340
C12orf65Combined oxidative phosphorylation deficiency 7 ; Spastic paraplegia 55 autosomal recessive613559; 615035
C2CD3?Orofaciodigital syndrome XIV615948
C5orf42Joubert syndrome 17 ; Orofaciodigital syndrome VI614615; 277170
CA2Osteopetrosis, autosomal recessive 3 with renal tubular acidosis259730
CA5AHyperammonemia due to carbonic anhydrase VA deficiency615751
CA8Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3613227
CACNG2Mental retardation, autosomal dominant 10614256
CAMTA1Cerebellar ataxia, nonprogressive, with mental retardation614756
CASC5Microcephaly 4 primary, autosomal recessive604321
CBLNoonan syndrome-like disorder with or without juvenile myelomonocytic leukemia; ?Juvenile myelomonocytic leukemia613563; 607785
CBSHomocystinuria, B6-responsive and nonresponsive types; Thrombosis, hyperhomocysteinemic236200
CC2D1AMental retardation, autosomal recessive 3608443
CC2D2ACOACH syndrome; Joubert syndrome 9 ; Meckel syndrome 6216360; 612285; 612284
CCBE1Hennekam lymphangiectasia-lymphedema syndrome 1235510
CCDC174Hypotonia, infantile, with psychomotor retardation616816
CCDC22Ritscher-Schinzel syndrome 2300963
CCDC78Myopathy, centronuclear, 4614807
CCND2Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3615938
CDH15Mental retardation, autosomal dominant 3612580
CDK5RAP2Microcephaly 3 primary, autosomal recessive604804
CDKN1CBeckwith-Wiedemann syndrome; IMAGE syndrome130650; 614732
CDONHoloprosencephaly 11614226
CENPJ?Seckel syndrome 4 ; Microcephaly 6 primary, autosomal recessive613676; 608393
CEP135?Microcephaly 8 primary, autosomal recessive614673
CEP152Microcephaly 9 primary, autosomal recessive; Seckel syndrome 5614852; 613823
CEP290Joubert syndrome 5 ; Leber congenital amaurosis 10 ; Meckel syndrome 4 ; Senior-Loken syndrome 6 ; ?Bardet-Biedl syndrome 14610188; 611755; 611134; 610189; 615991
CEP41Joubert syndrome 15614464
CHAMP1Mental retardation, autosomal dominant 40616579
CHD3?Autism (O'Roak -2012 Nature 485,246)NoOMIMPhenotype
CHD4No OMIM phenotype; ?Epileptic encephalopathy (Li -2016 Mol Psychiatry 21 290) ; {Cancer, increased risk, association with} (Yamada -2015 Genes Chromosomes Cancer 54 122)NoOMIMPhenotype
CHD7CHARGE syndrome; Hypogonadotropic hypogonadism 5 with or without anosmia214800; 612370
CHD8{Autism, susceptibility to, 18}615032
CHKBMuscular dystrophy, congenital, megaconial type602541
CKAP2LFilippi syndrome272440
CLCN4Mental retardation, X-linked 49/15300114
CLCNKBBartter syndrome, type 3 ; Bartter syndrome, type 4b, digenic607364; 613090
CLIC2?Mental retardation, X-linked, syndromic 32300886
CLPB3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia616271
COASYNeurodegeneration with brain iron accumulation 6615643
COG1Congenital disorder of glycosylation, type IIg611209
COG4Congenital disorder of glycosylation, type IIj613489
COG5Congenital disorder of glycosylation, type IIi613612
COG6Congenital disorder of glycosylation, type IIl; Shaheen syndrome614576; 615328
COG7Congenital disorder of glycosylation, type IIe608779
COG8Congenital disorder of glycosylation, type IIh611182
COL4A2Porencephaly 2 ; {Hemorrhage, intracerebral, susceptibility to}614483; 614519
COLEC113MC syndrome 2265050
COQ9Coenzyme Q10 deficiency, primary, 5614654
COX10Leigh syndrome due to mitochondrial COX4 deficiency; Mitochondrial complex IV deficiency256000; 220110
COX15Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 ; Leigh syndrome due to cytochrome c oxidase deficiency615119; 256000
COX6B1Mitochondrial complex IV deficiency220110
CRADDMental retardation, autosomal recessive 34614499
CRBNMental retardation, autosomal recessive 2607417
CREBBPRubinstein-Taybi syndrome180849
CSNK2A1Okur-Chung neurodevelopmental syndrome; Glaucoma, primary congenital (Lee -2011 Mol Vis 17,3583)617062; -
CSPP1Joubert syndrome 21615636
CTCFMental retardation, autosomal dominant 21615502
CTDP1Congenital cataracts, facial dysmorphism, and neuropathy604168
CTNNB1Colorectal cancer, somatic; Hepatocellular carcinoma, somatic; Mental retardation, autosomal dominant 19 ; Ovarian cancer, somatic; Pilomatricoma, somatic114500; 114550; 615075; 167000; 132600
CTSAGalactosialidosis256540
CUBNMegaloblastic anemia-1, Finnish type261100
CYB5R3Methemoglobinemia, type I; Methemoglobinemia, type II250800
DAG1Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 ; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9616538; 613818
DARS2Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation611105
DBTMaple syrup urine disease, type II248600
DCAF17Woodhouse-Sakati syndrome241080
DCHS1Mitral valve prolapse 2 ; Van Maldergem syndrome 1607829; 601390
DCPSAl-Raqad syndrome616459
DDCAromatic L-amino acid decarboxylase deficiency608643
DDHD2Spastic paraplegia 54 autosomal recessive615033
DDX11Warsaw breakage syndrome613398
DDX3XMental retardation, X-linked 102300958
DEAF1Mental retardation, autosomal dominant 24615828
DHCR24Desmosterolosis602398
DHCR7Smith-Lemli-Opitz syndrome270400
DHFRMegaloblastic anemia due to dihydrofolate reductase deficiency613839
DHTKD12-aminoadipic 2-oxoadipic aciduria; ?Charcot-Marie-Tooth disease, axonal, type 2Q204750; 615025
DIAPH1Deafness, autosomal dominant 1 ; Seizures, cortical blindness, microcephaly syndrome124900; 616632
DIP2BMental retardation, FRA12A type136630
DKC1Dyskeratosis congenita, X-linked305000
DLDDihydrolipoamide dehydrogenase deficiency246900
DLG3Mental retardation, X-linked 90300850
DMDBecker muscular dystrophy; Cardiomyopathy, dilated, 3B; Duchenne muscular dystrophy300376; 302045; 310200
DMPKMyotonic dystrophy 1160900
DNAJC193-methylglutaconic aciduria, type V610198
DNMT3ATatton-Brown-Rahman syndrome615879
DNMT3BImmunodeficiency-centromeric instability-facial anomalies syndrome 1242860
DOCK6Adams-Oliver syndrome 2614219
DPH1Developmental delay with short stature,dysmorphic features and sparse hair616901
DPP6Mental retardation, autosomal dominant 33 ; {Ventricular fibrillation, paroxysmal familial, 2}616311; 612956
DSTEpidermolysis bullosa simplex, autosomal recessive 2 ; ?Neuropathy, hereditary sensory and autonomic, type VI615425; 614653
DYMDyggve-Melchior-Clausen disease; Smith-McCort dysplasia223800; 607326
EBPChondrodysplasia punctata, X-linked dominant; MEND syndrome302960; 300960
EDC3?Mental retardation, autosomal recessive 50616460
EFTUD2Mandibulofacial dysostosis, Guion-Almeida type610536
EIF2AK3Wolcott-Rallison syndrome226980
EIF4A3Robin sequence with cleft mandible and limb abnormalities268305
EIF4G1{Parkinson disease 18}614251
ELOVL4Ichthyosis, spastic quadriplegia, and mental retardation; Stargardt disease 3 ; ?Spinocerebellar ataxia 34614457; 600110; 133190
EMC1Cerebellar atrophy, visual impairment, and psychomotor retardation616875
EMX2Schizencephaly269160
EP300Colorectal cancer, somatic; Rubinstein-Taybi syndrome 2114500; 613684
EPB41L1?Mental retardation, autosomal dominant 11614257
ERCC2Cerebrooculofacioskeletal syndrome 2 ; Trichothiodystrophy 1 photosensitive; Xeroderma pigmentosum, group D610756; 601675; 278730
ERCC3Trichothiodystrophy 2 photosensitive; Xeroderma pigmentosum, group B616390; 610651
ERCC5Cerebrooculofacioskeletal syndrome 3 ; Xeroderma pigmentosum, group G; Xeroderma pigmentosum, group G/Cockayne syndrome616570; 278780
ERCC6Cerebrooculofacioskeletal syndrome 1 ; Cockayne syndrome, type B; De Sanctis-Cacchione syndrome; Premature ovarian failure 11; UV-sensitive syndrome 1 ; {Lung cancer, susceptibility to}; {Macular degeneration, age-related, susceptibility to 5}214150; 133540; 278800; 616946; 600630; 211980; 613761
ERCC8Cockayne syndrome, type A; UV-sensitive syndrome 2216400; 614621
ERLIN2Spastic paraplegia 18 autosomal recessive611225
ESCO2Roberts syndrome; SC phocomelia syndrome268300; 269000
ETFBGlutaric acidemia IIB231680
ETHE1Ethylmalonic encephalopathy602473
EXOSC3Pontocerebellar hypoplasia, type 1B614678
EZH2Weaver syndrome277590
FAM126ALeukodystrophy, hypomyelinating, 5610532
FAR1Peroxisomal fatty acyl-CoA reductase 1 disorder616154
FAT4Hennekam lymphangiectasia-lymphedema syndrome 2 ; Van Maldergem syndrome 2616006; 615546
FBN1Acromicric dysplasia; Aortic aneurysm, ascending, and dissection ; Ectopia lentis, familial; Geleophysic dysplasia 2 ; Marfan lipodystrophy syndrome; Marfan syndrome; MASS syndrome; Stiff skin syndrome; Weill-Marchesani syndrome 2 dominant102370; -; 129600; 614185; 616914; 154700; 604308; 184900; 608328
FBXL4Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471
FBXO31?Mental retardation, autosomal recessive 45615979
FGFR1Encephalocraniocutaneous lipomatosis; Hartsfield syndrome; Hypogonadotropic hypogonadism 2 with or without anosmia; Jackson-Weiss syndrome; Osteoglophonic dysplasia; Pfeiffer syndrome; Trigonocephaly 1613001; 615465; 147950; 123150; 166250; 101600; 190440
FGFR2Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis; Apert syndrome; Beare-Stevenson cutis gyrata syndrome; Bent bone dysplasia syndrome; Craniofacial-skeletal-dermatologic dysplasia; Craniosynostosis, nonspecific ; Crouzon syndrome; Gastric cancer, somatic; Jackson-Weiss syndrome; LADD syndrome; Pfeiffer syndrome; Saethre-Chotzen syndrome; Scaphocephaly and Axenfeld-Rieger anomaly ; Scaphocephaly, maxillary retrusion, and mental retardation207410; 101200; 123790; 614592; 101600; -; 123500; 613659; 123150; 149730; 101400; 609579
FGFR3Achondroplasia; Bladder cancer, somatic; CATSHL syndrome; Cervical cancer, somatic; Colorectal cancer, somatic; Crouzon syndrome with acanthosis nigricans; Hypochondroplasia; LADD syndrome; Muenke syndrome; Nevus, epidermal, somatic; SADDAN; Spermatocytic seminoma, somatic; Thanatophoric dysplasia, type I; Thanatophoric dysplasia, type II100800; 109800; 610474; 603956; 114500; 612247; 146000; 149730; 602849; 162900; 616482; 273300; 187600; 187601
FHFumarase deficiency; Leiomyomatosis and renal cell cancer606812; 150800
FKRPMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 ; Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 ; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5613153; 606612; 607155
FKTNCardiomyopathy, dilated, 1X; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 ; Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 ; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4611615; 253800; 613152; 611588
FLVCR1Ataxia, posterior column, with retinitis pigmentosa609033
FMN2Mental retardation, autosomal recessive 47616193
FMR1Fragile X syndrome; Fragile X tremor/ataxia syndrome; Premature ovarian failure 1300624; 300623; 311360
FOXP1Mental retardation with language impairment and with or without autistic features613670
FOXP2Speech-language disorder-1602081
FRAS1Fraser syndrome219000
FREM2Fraser syndrome219000
FRRS1LEpileptic encephalopathy, early infantile, 37616981
FTCDGlutamate formiminotransferase deficiency229100
FTOGrowth retardation, developmental delay, facial dysmorphism; {Obesity, susceptibility to, BMIQ14}612938; 612460
FTSJ1Mental retardation, X-linked 9309549
FUCA1Fucosidosis230000
GAD1?Cerebral palsy, spastic quadriplegic, 1603513
GALEGalactose epimerase deficiency230350
GALTGalactosemia230400
GATAD2BMental retardation, autosomal dominant 18615074
GATMCerebral creatine deficiency syndrome 3612718
GCH1Dystonia, DOPA-responsive, with or without hyperphenylalaninemia; Hyperphenylalaninemia, BH4-deficient, B128230; 233910
GDI1Mental retardation, X-linked 41300849
GFAPAlexander disease203450
GJB1Charcot-Marie-Tooth neuropathy, X-linked dominant, 1302800
GJC2Leukodystrophy, hypomyelinating, 2 ; Lymphedema, hereditary, IC; Spastic paraplegia 44 autosomal recessive608804; 613480; 613206
GKGlycerol kinase deficiency307030
GLB1GM1-gangliosidosis, type I; GM1-gangliosidosis, type II; GM1-gangliosidosis, type III; Mucopolysaccharidosis type IVB (Morquio)230500; 230600; 230650; 253010
GLI2Culler-Jones syndrome; Holoprosencephaly-9615849; 610829
GLI3Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome; Polydactyly, postaxial, types A1 and B; Polydactyly, preaxial, type IV; {Hypothalamic hamartomas, somatic}175700; 146510; 174200; 174700; 241800
GLYCTKD-glyceric aciduria220120
GM2AGM2-gangliosidosis, AB variant272750
GMPPAAlacrima, achalasia, and mental retardation syndrome615510
GMPPBMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 ; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 ; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14615350; 615351; 615352
GNASAcromegaly, somatic; ACTH-independent macronodular adrenal hyperplasia; McCune-Albright syndrome, somatic, mosaic ; Osseous heteroplasia, progressive; Pseudohypoparathyroidism Ia; Pseudohypoparathyroidism Ib; Pseudohypoparathyroidism Ic; Pseudopseudohypoparathyroidism102200; 219080; 174800; 166350; 103580; 603233; 612462; 612463
GNB1Leukemia,acute lymphoblastic,somatic; Mental retardation, autosomal dominant 42613065; 616973
GNPATRhizomelic chondrodysplasia punctata, type 2222765
GNPTABMucolipidosis II alpha/beta; Mucolipidosis III alpha/beta252500; 252600
GNSMucopolysaccharidosis type IIID252940
GPR56Polymicrogyria, bilateral frontoparietal; Polymicrogyria, bilateral perisylvian606854; 615752
GPT2?Mental retardation, autosomal recessive 49616281
GRID2Spinocerebellar ataxia, autosomal recessive 18616204
GRIK2Mental retardation, autosomal recessive, 6611092
GRIP1Fraser syndrome219000
GRM1Spinocerebellar ataxia, autosomal recessive 13614831
GSSGlutathione synthetase deficiency; Hemolytic anemia due to glutathione synthetase deficiency266130; 231900
GTF2H5Trichothiodystrophy 3 photosensitive616395
GTPBP3Combined oxidative phosphorylation deficiency 23616198
GUSBMucopolysaccharidosis VII253220
HACE1Spastic paraplegia and psychomotor retardation with or without seizures616756
HAX1Neutropenia, severe congenital 3 autosomal recessive610738
HCCSLinear skin defects with multiple congenital anomalies 1309801
HCFC1Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type )309541
HDAC6?Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia,300863
HDAC8Cornelia de Lange syndrome 5300882
HEPACAMMegalencephalic leukoencephalopathy with subcortical cysts 2A; Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation613925; 613926
HERC1Macrocephaly, dysmorphic facies, and psychomotor retardation617011
HERC2Mental retardation, autosomal recessive 38 ; [Skin/hair/eye pigmentation 1 blond/brown hair]; [Skin/hair/eye pigmentation 1 blue/nonblue eyes]615516; 227220
HESX1Growth hormone deficiency with pituitary anomalies; Pituitary hormone deficiency, combined, 5 ; Septooptic dysplasia182230
HEXAGM2-gangliosidosis, several forms; Tay-Sachs disease; [Hex A pseudodeficiency]272800
HEXBSandhoff disease, infantile, juvenile, and adult forms268800
HIVEP2Mental retardation, autosomal dominant 43616977
HNMTMental retardation, autosomal recessive 51 ; {Asthma, susceptibility to}616739; 600807
HOXA1Athabaskan brainstem dysgenesis syndrome; Bosley-Salih-Alorainy syndrome601536
HPDHawkinsinuria; Tyrosinemia, type III140350; 276710
HPRT1HPRT-related gout; Lesch-Nyhan syndrome300323; 300322
HRASCongenital myopathy with excess of muscle spindles; Costello syndrome; Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic; {Bladder cancer, somatic}; {Nevus sebaceous or woolly hair nevus, somatic}; {Spitz nevus or nevus spilus, somatic}; {Thyroid carcinoma, follicular, somatic}218040; 163200; 109800; 162900; 137550; 188470
HSPD1Leukodystrophy, hypomyelinating, 4 ; Spastic paraplegia 13 autosomal dominant612233; 605280
HUWE1Mental retardation, X-linked syndromic, Turner type300706
IARSNo OMIM phenotypeNoOMIMPhenotype
IDSMucopolysaccharidosis II309900
IDUAMucopolysaccharidosis Ih; Mucopolysaccharidosis Ih/s; Mucopolysaccharidosis Is607014; 607015; 607016
IFT172Retinitis pigmentosa 71 ; Short-rib thoracic dysplasia 10 with or without polydactyly616394; 615630
IGBP1Corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia300472
IGF1Growth retardation with deafness and mental retardation due to IGF1 deficiency608747
IKBKGEctodermal dysplasia, hypohidrotic, with immune deficiency; Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency; Immunodeficiency 33 ; Immunodeficiency, isolated; Incontinentia pigmenti; Invasive pneumococcal disease, recurrent isolated, 2300291; 300301; 300636; 300584; 308300; 300640
IL1RAPL1Mental retardation, X-linked 21/34300143
INPP5EJoubert syndrome 1 ; Mental retardation, truncal obesity, retinal dystrophy, and micropenis213300; 610156
ISPDMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7614643; 616052
ITPR1Gillespie syndrome; Spinocerebellar ataxia 15 ; Spinocerebellar ataxia 29 congenital nonprogressive206700; 606658; 117360
IVDIsovaleric acidemia243500
JAG1Alagille syndrome; Tetralogy of Fallot; ?Deafness, congenital heart defects, and posterior embryotoxon118450; 187500; -
KANK1Cerebral palsy, spastic quadriplegic, 2612900
KAT6AMental retardation, autosomal dominant 32616268
KAT6BGenitopatellar syndrome; SBBYSS syndrome606170; 603736
KATNB1Lissencephaly 6 with microcephaly616212
KCNC3Spinocerebellar ataxia 13605259
KCNJ6Keppen-Lubinsky syndrome614098
KCNK9Birk-Barel mental retardation dysmorphism syndrome612292
KDM1ACleft palate, psychomotor retardation, and distinctive facial features616728
KDM6AKabuki syndrome 2300867
KIAA0226?Spinocerebellar ataxia, autosomal recessive 15 (KIAA0226 alias RUBCN)615705
KIAA1033?Mental retardation, autosomal recessive 43615817
KIAA1279Goldberg-Shprintzen megacolon syndrome609460
KIF11Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation152950
KIF1AMental retardation, autosomal dominant 9 ; Neuropathy, hereditary sensory, type IIC; Spastic paraplegia 30 autosomal recessive614255; 614213; 610357
KIF2ACortical dysplasia, complex, with other brain malformations 3615411
KIF4A?Mental retardation, X-linked 100300923
KIF5CCortical dysplasia, complex, with other brain malformations 2615282
KIF7Acrocallosal syndrome; Joubert syndrome 12 ; ?Al-Gazali-Bakalinova syndrome; ?Hydrolethalus syndrome 2200990; 607131; 614120
KIRREL3Mental retardation, autosomal dominant 4612581
KMT2ALeukemia, myeloid/lymphoid or mixed-lineage ; Wiedemann-Steiner syndrome-; 605130
KMT2DKabuki syndrome 1147920
KRASBladder cancer, somatic; Breast cancer, somatic; Cardiofaciocutaneous syndrome 2 ; Gastric cancer, somatic; Leukemia, acute myeloid; Lung cancer, somatic; Noonan syndrome 3 ; Pancreatic carcinoma, somatic; RAS-associated autoimmune leukoproliferative disorder; Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic109800; 114480; 615278; 137215; 601626; 211980; 609942; 260350; 614470; 163200
KRBOX4nonsyndromic X-linked mental retardation (Lugtenberg et al, 2006)NoOMIMPhenotype
L1CAMCorpus callosum, partial agenesis of; CRASH syndrome; Hydrocephalus due to aqueductal stenosis; Hydrocephalus with congenital idiopathic intestinal pseudoobstruction; Hydrocephalus with Hirschsprung disease; MASA syndrome304100; 303350; 307000
L2HGDHL-2-hydroxyglutaric aciduria236792
LAMA1Poretti-Boltshauser syndrome615960
LAMA2Muscular dystrophy, congenital merosin-deficient; Muscular dystrophy, congenital, due to partial LAMA2 deficiency607855
LAMC3Cortical malformations, occipital614115
LAMP2Danon disease300257
LARGEMuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 ; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6613154; 608840
LARP7Alazami syndrome615071
LIG4LIG4 syndrome; {Multiple myeloma, resistance to}606593; 254500
LINSMental retardation, autosomal recessive 27 (LINS alias LINS1)614340
LMAN2L?Mental retardation, autosomal recessive, 52616887
LONP1CODAS syndrome600373
LRP2Donnai-Barrow syndrome222448
LRPPRCLeigh syndrome, French-Canadian type220111
LZTFL1Bardet-Biedl syndrome 17615994
MAGEL2Schaaf-Yang syndrome615547
MAGT1Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia300853
MAN1B1Mental retardation, autosomal recessive 15614202
MAN2B1Mannosidosis, alpha-, types I and II248500
MANBAMannosidosis, beta248510
MAOABrunner syndrome; {Antisocial behavior}300615
MAP2K1Cardiofaciocutaneous syndrome 3615279
MAP2K2Cardiofaciocutaneous syndrome 4615280
MAPRE2Symmetric circumferential skin creases, congenital, 2616734
MAT1AHypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III ; deficiency; Methionine adenosyltransferase deficiency, autosomal recessive-; 250850
MBTPS2IFAP syndrome with or without BRESHECK syndrome; Keratosis follicularis spinulosa decalvans, X-linked; ?Olmsted syndrome, X-linked308205; 308800; 300918
MCCC13-Methylcrotonyl-CoA carboxylase 1 deficiency210200
MCCC23-Methylcrotonyl-CoA carboxylase 2 deficiency210210
MCOLN1Mucolipidosis IV252650
MCPH1Microcephaly 1 primary, autosomal recessive251200
MED13LMental retardation and distinctive facial features with or without cardiac defects; Transposition of the great arteries, dextro-looped 1616789; 608808
MED17Microcephaly, postnatal progressive, with seizures and brain atrophy613668
MED23Mental retardation, autosomal recessive 18614249
METTL23Mental retardation, autosomal recessive 44615942
MGAT2Congenital disorder of glycosylation, type IIa212066
MICU1Myopathy with extrapyramidal signs615673
MID1Opitz GBBB syndrome, type I300000
MID2?Mental retardation, X-linked 101300928
MKKSBardet-Biedl syndrome 6 ; McKusick-Kaufman syndrome605231; 236700
MLC1Megalencephalic leukoencephalopathy with subcortical cysts604004
MLYCDMalonyl-CoA decarboxylase deficiency248360
MMAAMethylmalonic aciduria, vitamin B12-responsive251100
MMACHCMethylmalonic aciduria and homocystinuria, cblC type277400
MMADHCHomocystinuria, cblD type, variant 1 ; Methylmalonic aciduria and homocystinuria, cblD type; Methylmalonic aciduria, cblD type, variant 2277410
MOGSCongenital disorder of glycosylation, type IIb606056
MPDZHydrocephalus, nonsyndromic, autosomal recessive 2615219
MPLKIPTrichothiodystrophy 4 nonphotosensitive234050
MRPL3Combined oxidative phosphorylation deficiency 9614582
MRPS22Combined oxidative phosphorylation deficiency 5611719
MTRHomocystinuria-megaloblastic anemia, cblG complementation type; {Neural tube defects, folate-sensitive, susceptibility to}250940; 601634
MTRRHomocystinuria-megaloblastic anemia, cbl E type; {Neural tube defects, folate-sensitive, susceptibility to}236270; 601634
MUTMethylmalonic aciduria, mut(0) type251000
MVKHyper-IgD syndrome; Mevalonic aciduria; Porokeratosis 3 multiple types260920; 610377; 175900
MYCNFeingold syndrome164280
MYH9Deafness, autosomal dominant 17 ; Epstein syndrome; Fechtner syndrome; Macrothrombocytopenia and progressive sensorineural deafness; May-Hegglin anomaly; Sebastian syndrome603622; 153650; 153640; 600208; 155100; 605249
MYO5AGriscelli syndrome, type 1214450
MYT1LMental retardation, autosomal dominant 39616521
NAA10Ogden syndrome; ?Microphthalmia, syndromic 1300855; 309800
NAGAKanzaki disease; Schindler disease, type I; Schindler disease, type III609242; 609241
NAGLUMucopolysaccharidosis type IIIB (Sanfilippo B); ?Charcot-Marie-Tooth disease, axonal, type 2V252920; 616491
NALCNCongenital contractures of the limbs and face, hypotonia, and developmental delay; Hypotonia, infantile, with psychomotor retardation and characteristic facies 1616266; 615419
NANSSponyloepimetaphyseal dysplasia, Genevieve type610442
NBNAplastic anemia; Leukemia, acute lymphoblastic; Nijmegen breakage syndrome609135; 613065; 251260
NDE1Lissencephaly 4 (with microcephaly); ?Microhydranencephaly614019; 605013
NDPExudative vitreoretinopathy 2 X-linked; Norrie disease305390; 310600
NDST1Mental retardation, autosomal recessive 46616116
NDUFA12Leigh syndrome due to mitochondrial complex 1 deficiency256000
NDUFS7Leigh syndrome256000
NDUFS8Leigh syndrome due to mitochondrial complex I deficiency256000
NEU1Sialidosis, type I; Sialidosis, type II256550
NF1Leukemia, juvenile myelomonocytic; Neurofibromatosis, familial spinal; Neurofibromatosis, type 1 ; Neurofibromatosis-Noonan syndrome; Watson syndrome607785; 162210; 162200; 601321; 193520
NFIABrain malformation and urinary tract defect (Negishi -2015 Hum Genome Var 2) ; Bipolar disorder & depression (Mikhail -2011 Am J Med Genet A 155,2386) ; Central nervous system malformations (Koehler -2010 Eur J Pediatr 169,463); Intellectual disability with macrocephaly (Labonne -2016 Mol Cytogenet 9,24)NoOMIMPhenotype
NFIXMarshall-Smith syndrome; Sotos syndrome 2602535; 614753
NHSCataract 40 X-linked; Nance-Horan syndrome302200; 302350
NIPBLCornelia de Lange syndrome 1122470
NKX2-1Chorea, hereditary benign; Choreoathetosis, hypothyroidism, and neonatal respiratory distress; {Thyroid cancer, monmedullary, 1}118700; 610978; 188550
NLGN3{Asperger syndrome susceptibility, X-linked 1}; {Autism susceptibility, X-linked 1}300494; 300425
NLGN4XMental retardation, X-linked; {Asperger syndrome susceptibility, X-linked 2}; {Autism susceptibility, X-linked 2}300495; 300497
NLRP3CINCA syndrome; Familial cold-induced inflammatory syndrome 1 ; Muckle-Wells syndrome607115; 120100; 191900
NONOMental retardation, X-linked, syndromic 34300967
NPHP1Joubert syndrome 4 ; Nephronophthisis 1 juvenile; Senior-Loken syndrome-1609583; 256100; 266900
NR2F1Bosch-Boonstra-Schaaf optic atrophy syndrome615722
NRASColorectal cancer, somatic; Epidermal nevus, somatic; Melanocytic nevus syndrome, congenital, somatic; Neurocutaneous melanosis, somatic; Noonan syndrome 6 ; Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic; Thyroid carcinoma, follicular, somatic; ?RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic114500; 162900; 137550; 249400; 613224; 163200; 188470; 614470
NSD1Beckwith-Wiedemann syndrome; Leukemia, acute myeloid; Sotos syndrome 1130650; 601626; 117550
NSDHLCHILD syndrome; CK syndrome308050; 300831
NSUN2Mental retardation, autosomal recessive 5611091
NTRK1Insensitivity to pain, congenital, with anhidrosis; Medullary thyroid carcinoma, familial256800; 155240
NUP62Striatonigral degeneration, infantile271930
OCLNBand-like calcification with simplified gyration and polymicrogyria251290
OCRLDent disease 2 ; Lowe syndrome300555; 309000
ORC1Meier-Gorlin syndrome 1224690
OTCOrnithine transcarbamylase deficiency311250
PACS1Schuss-Hoeijmakers-syndrome615009
PAFAH1B1Lissencephaly 1 ; Subcortical laminar heterotopia607432
PAHPhenylketonuria; [Hyperphenylalaninemia, non-PKU mild]261600
PANK2HARP syndrome; Neurodegeneration with brain iron accumulation 1607236; 234200
PAX1?Otofaciocervical syndrome 2615560
PAX6Aniridia; Cataract with late-onset corneal dystrophy; Coloboma of optic nerve; Coloboma, ocular; Foveal hypoplasia 1 ; Keratitis; Optic nerve hypoplasia; Peters anomaly; ?Morning glory disc anomaly106210; 120430; 120200; 136520; 148190; 165550; 604229
PAX8Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia218700
PCNTMicrocephalic osteodysplastic primordial dwarfism, type II210720
PDE4DAcrodysostosis 2 with or without hormone resistance; {Stroke, susceptibility to, 1}614613; 606799
PDSS1Coenzyme Q10 deficiency, primary, 2614651
PDSS2Coenzyme Q10 deficiency, primary, 3614652
PEPDProlidase deficiency170100
PEX11BPeroxisome biogenesis disorder 14B614920
PEX2Peroxisome biogenesis disorder 5A (Zellweger); Peroxisome biogenesis disorder 5B614866; 614867
PEX7Peroxisome biogenesis disorder 9B; Rhizomelic chondrodysplasia punctata, type 1614879; 215100
PGAP1Mental retardation, autosomal recessive 42615802
PGAP2Hyperphosphatasia with mental retardation syndrome 3614207
PGK1Phosphoglycerate kinase 1 deficiency300653
PHF8Mental retardation syndrome, X-linked, Siderius type300263
PIGGMental retardation,autosomal recessive 53616917
PIGLCHIME syndrome280000
PIGVHyperphosphatasia with mental retardation syndrome 1239300
PIGYHyperphosphatasia with mental retardation syndrome 6616809
PIK3R2Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1603387
PLXND1Moebius syndrome (Tomas-Roca -2015 Nat Commun 6); Truncus arteriosus (Ta-Shma -2013 Am J Med Genet A 161,3115); {Diabetic nephropathy,association with} (McKnight -2009 Hugo J 3,77)NoOMIMPhenotype
PNPImmunodeficiency due to purine nucleoside phosphorylase deficiency613179
POC1AShort stature, onychodysplasia, facial dysmorphism, and hypotrichosis614813
POGZWhite-Sutton syndrome616364
POLR3ALeukodystrophy, hypomyelinating, 7 with or without oligodontia and/or hypogonadotropic hypogonadism,607694
POLR3BLeukodystrophy, hypomyelinating, 8 with or without oligodontia and/or hypogonadotropic hypogonadism614381
POMGNT1Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 ; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3 ; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3253280; 613151; 613157
GTDC2Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8614830
SGK196Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 ; ?Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12615249; 616094
POMT1Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 ; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 ; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1236670; 613155; 609308
POMT2Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 ; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 ; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2613150; 613156; 613158
PORCNFocal dermal hypoplasia305600
POU1F1Pituitary hormone deficiency, combined, 1613038
POU3F3?Intellectual disability (Dheedene -2014 Mol Syndromol 5,32)NoOMIMPhenotype
PPOXPorphyria variegata176200
PPP2R5DMental retardation, autosomal dominant 35616355
PRODHHyperprolinemia, type I; {Schizophrenia, susceptibility to, 4}239500; 600850
PRPS1Arts syndrome; Charcot-Marie-Tooth disease, X-linked recessive, 5 ; Deafness, X-linked 1 ; Gout, PRPS-related; Phosphoribosylpyrophosphate synthetase superactivity301835; 311070; 304500; 300661
PRSS12Mental retardation, autosomal recessive 1249500
PSAPCombined SAP deficiency; Gaucher disease, atypical; Krabbe disease, atypical; Metachromatic leukodystrophy due to SAP-b deficiency611721; 610539; 611722; 249900
PSEN1Acne inversa, familial, 3 ; Alzheimer disease, type 3 ; Alzheimer disease, type 3 with spastic paraparesis and apraxia; Alzheimer disease, type 3 with spastic paraparesis and unusual plaques; Cardiomyopathy, dilated, 1U; Dementia, frontotemporal; Pick disease613737; 607822; 613694; 600274; 172700
PTCH1Basal cell carcinoma, somatic; Basal cell nevus syndrome; Holoprosencephaly-7605462; 109400; 610828
PTCHD1{Autism, susceptibility to, X-linked 4}300830
PTDSS1Lenz-Majewski hyperostotic dwarfism151050
PTENBannayan-Riley-Ruvalcaba syndrome; Cowden syndrome 1 ; Endometrial carcinoma, somatic; Lhermitte-Duclos syndrome; Macrocephaly/autism syndrome; Malignant melanoma, somatic; PTEN hamartoma tumor syndrome ; Squamous cell carcinoma, head and neck, somatic; VATER association with macrocephaly and ventriculomegaly; {Glioma susceptibility 2}; {Meningioma}; {Prostate cancer, somatic}153480; 158350; 608089; 605309; 155600; -; 275355; 276950; 613028; 607174; 176807
PTPN11LEOPARD syndrome 1 ; Leukemia, juvenile myelomonocytic, somatic; Metachondromatosis; Noonan syndrome 1151100; 607785; 156250; 163950
PTSHyperphenylalaninemia, BH4-deficient, A261640
PUF60Verheij syndrome615583
PUS1Myopathy, lactic acidosis, and sideroblastic anemia 1600462
PUS3?Mental retardation, autosomal recessive 55617051
PUS7No OMIM phenotypeNoOMIMPhenotype
PYCR1Cutis laxa, autosomal recessive, type IIB; Cutis laxa, autosomal recessive, type IIIB612940; 614438
QDPRHyperphenylalaninemia, BH4-deficient, C261630
RAB18Warburg micro syndrome 3614222
RAB27AGriscelli syndrome, type 2607624
RAB3GAP1Warburg micro syndrome 1600118
RAB3GAP2Martsolf syndrome; Warburg micro syndrome 2212720; 614225
RAB40ALNo OMIM phenotypeNoOMIMPhenotype
RAD21Cornelia de Lange syndrome 4614701
RAF1Cardiomyopathy, dilated, 1NN; LEOPARD syndrome 2 ; Noonan syndrome 5615916; 611554; 611553
RAI1Smith-Magenis syndrome182290
RBM10TARP syndrome311900
RBM28?Alopecia, neurologic defects, and endocrinopathy syndrome612079
RBPJAdams-Oliver syndrome 3614814
RELNLissencephaly 2 (Norman-Roberts type); {Epilepsy, familial temporal lobe, 7}257320; 616436
RERENeurodevelopmental disorder with or without anomalies of the brain,eye or heart616975
REV3LMoebius syndrome (Tomas-Roca -2015 Nat Commun 6); {Psoriasis,association with} (Strange -2010 Nat Genet 42,985); {Colorectal cancer,increased risk,association with} (Webb -2006 Hum Mol Genet 15,3263)NoOMIMPhenotype
RFT1Congenital disorder of glycosylation, type In612015
RIT1Noonan syndrome 8615355
RLIMMental Retardation, X-linked 61300978
RMND1Combined oxidative phosphorylation deficiency 11 ; RMRP NC NC NC Anauxetic dysplasia; Cartilage-hair hypoplasia; Metaphyseal dysplasia without hypotrichosis614922; 607095; 250250; 250460
RNASET2Leukoencephalopathy, cystic, without megalencephaly612951
RPGRIP1LCOACH syndrome; Joubert syndrome 7 ; Meckel syndrome 5216360; 611560; 611561
RPL10{Autism, susceptibility to, X-linked 5}300847
RTEL1Dyskeratosis congenita, autosomal dominant 4 ; Dyskeratosis congenita, autosomal recessive 5 ; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3615190; 616373
RTTNMicrocephaly,short stature,and polymicrogyria with seizures614833
SALL1Townes-Brocks branchiootorenal-like syndrome; Townes-Brocks syndrome107480
SATB2Glass syndrome612313
SBDSShwachman-Diamond syndrome; {Aplastic anemia, susceptibility to}260400; 609135
SC5DLathosterolosis607330
SCO2Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 ; Myopia 6604377; 608908
SDHACardiomyopathy, dilated, 1GG; Leigh syndrome; Mitochondrial respiratory chain complex II deficiency; Paragangliomas 5613642; 256000; 252011; 614165
SEPSECSPontocerebellar hypoplasia type 2D613811
SERAC13-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome614739
SETBP1Mental retardation, autosomal dominant 29 ; Schinzel-Giedion midface retraction syndrome616078; 269150
SETD1ASchizophrenia (Takata -2014 Neuron 82 723)NoOMIMPhenotype
SETD2Luscan-Lumish syndrome616831
SETD5Mental retardation, autosomal dominant 23615761
SGSHMucopolysaccharidisis type IIIA (Sanfilippo A)252900
SHANK2{Autism susceptibility 17}613436
SHANK3Phelan-McDermid syndrome; {Schizophrenia 15}606232; 613950
SHHHoloprosencephaly-3; Microphthalmia with coloboma 5 ; Schizencephaly; Single median maxillary central incisor142945; 611638; 269160; 147250
SHOC2Noonan-like syndrome with loose anagen hair607721
SHROOM4?Stocco dos Santos X-linked mental retardation syndrome300434
SIL1Marinesco-Sjogren syndrome248800
SIN3A?Diaphragmatic hernia,congenital (Yu -2015 Hum Mol Genet 24,4764)NoOMIMPhenotype
SIX3Holoprosencephaly-2; Schizencephaly157170; 269160
SKIShprintzen-Goldberg syndrome182212
SLC12A6Agenesis of the corpus callosum with peripheral neuropathy218000
SLC16A2Allan-Herndon-Dudley syndrome300523
SLC17A5Salla disease; Sialic acid storage disorder, infantile604369; 269920
SLC1A1Dicarboxylic aminoaciduria; {?Schizophrenia susceptibility 18}222730; 615232
SLC1A4Spastic tetraplegia, thin corpus callosum, and progressive microcephaly616657
SLC25A12Epileptic encephalopathy, early infantile, 39612949
SLC33A1Congenital cataracts, hearing loss, and neurodegeneration; Spastic paraplegia 42 autosomal dominant614482; 612539
SLC35C1Congenital disorder of glycosylation, type IIc266265
SLC39A8Congenital disorder of glycosylation, type IIn616721
SLC4A4Renal tubular acidosis, proximal, with ocular abnormalities604278
SLC6A17Mental retardation, autosomal recessive 48616269
SLC6A3Parkinsonism-dystonia, infantile; {Nicotine dependence, protection against}613135; 188890
SLC7A7Lysinuric protein intolerance222700
SMAD4Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome; Myhre syndrome; Pancreatic cancer, somatic; Polyposis, juvenile intestinal175050; 139210; 260350; 174900
SMARCA4Coffin-Siris syndrome 4 ; {Rhabdoid tumor predisposition syndrome 2}614609; 613325
SMARCB1Coffin-Siris syndrome 3 ; Rhabdoid tumors, somatic; {Rhabdoid predisposition syndrome 1}; {Schwannomatosis-1, susceptibility to}614608; 609322; 162091
SMARCE1Coffin-Siris syndrome 5; {Meningioma, familial, susceptibility to}616938; 607174
SMC3Cornelia de Lange syndrome 3610759
SMOC1Microphthalmia with limb anomalies206920
SMPD1Niemann-Pick disease, type A; Niemann-Pick disease, type B257200; 607616
SNAP29Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome609528
SNIP1Psychomotor retardation, epilepsy, and craniofacial dysmorphism614501
SNRPNPrader-Willi syndrome176270
SNX14Spinocerebellar ataxia, autosomal recessive 20616354
SOBPMental retardation, anterior maxillary protrusion, and strabismus613671
SON?Schizophrenia (Fromer -2014 Nature 506,179) ; ?Developmental delay,seizure disorder,macrocephaly and white matter abnormalities (Zhu -2015 Genet Med)NoOMIMPhenotype
SOS1Noonan syndrome 4 ; ?Fibromatosis, gingival, 1610733; 135300
SOX10PCWH syndrome; Waardenburg syndrome, type 2E, with or without neurologic involvement; Waardenburg syndrome, type 4C609136; 611584; 613266
SOX11Mental retardation, autosomal dominant, 27615866
SOX2Microphthalmia, syndromic 3 ; Optic nerve hypoplasia and abnormalities of the central nervous system206900
SOX3Mental retardation, X-linked, with isolated growth hormone deficiency; Panhypopituitarism, X-linked300123; 312000
SOX5Lamb-Shaffer syndrome616803
SPATA5Epilepsy, hearing loss, and mental retardation syndrome616577
SPG11Amyotrophic lateral sclerosis 5 juvenile; Charcot-Marie-Tooth disease, axonal, type 2X; Spastic paraplegia 11 autosomal recessive602099; 616668; 604360
SPRED1Legius syndrome611431
SPTBN2Spinocerebellar ataxia 5 ; Spinocerebellar ataxia, autosomal recessive 14600224; 615386
SRCAPFloating-Harbor syndrome136140
SRD5A3Congenital disorder of glycosylation, type Iq; Kahrizi syndrome612379; 612713
SRPX2?Rolandic epilepsy, mental retardation, and speech dyspraxia300643
STAMBPMicrocephaly-capillary malformation syndrome614261
STILMicrocephaly 7 primary, autosomal recessive612703
STRA6Microphthalmia, isolated, with coloboma 8 ; Microphthalmia, syndromic 9601186
STT3A?Congenital disorder of glycosylation, type Iw615596
STT3B?Congenital disorder of glycosylation, type Ix615597
STX1BGeneralized epilepsy with febrile seizures plus, type 9616172
SUCLA2Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria),612073
SUCLG1Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria),245400
SURF1Charcot-Marie-Tooth disease, type 4K; Leigh syndrome, due to COX IV deficiency616684; 256000
SYNE1Emery-Dreifuss muscular dystrophy 4 autosomal dominant; Spinocerebellar ataxia, autosomal recessive 8612998; 610743
SYT14Spinocerebellar ataxia, autosomal recessive 11614229
TAF1Dystonia-Parkinsonism, X-linked; Mental retardation, X-linked, syndromic 33314250; 300966
TAF2Mental retardation, autosomal recessive 40615599
TATTyrosinemia, type II276600
TBC1D20Warburg micro syndrome 4615663
TBC1D7Macrocephaly/megalencephaly syndrome, autosomal recessive248000
TBCKHypotonia, infantile, with psychomotor retardation and characteristic facies 3616900
TBL1XR1Mental retardation, autosomal dominant 41; Piermont syndrome616944; 602342
TBR1Intellectual disability (Hamdan -2014 PLoS Genet 10); ?Autism (O'Roak -2012 Science 338,1619) ; ?Ventriculomegaly (Traylor -2012 Mol Syndromol 3,102)NoOMIMPhenotype
TCTN3Joubert syndrome 18 ; Orofaciodigital syndrome IV614815; 258860
TECRMental retardation, autosomal recessive 14614020
TELO2You-Hoover-Fong syndrome616954
TFAP2ABranchiooculofacial syndrome113620
TGFBR1Loeys-Dietz syndrome 1 ; {Multiple self-healing squamous epithelioma, susceptibility to}609192; 132800
TGFBR2Colorectal cancer, hereditary nonpolyposis, type 6 ; Esophageal cancer, somatic; Loeys-Dietz syndrome 2614331; 133239; 610168
TGIF1Holoprosencephaly-4142946
THSegawa syndrome, recessive605407
THOC2Mental retardation, X-linked 12/35300957
THOC6Beaulieu-Boycott-Innes syndrome613680
THRBThyroid hormone resistance; Thyroid hormone resistance, autosomal recessive; Thyroid hormone resistance, selective pituitary188570; 274300; 145650
TIMM8AJensen syndrome; Mohr-Tranebjaerg syndrome311150; 304700
TINF2Dyskeratosis congenita, autosomal dominant 3 ; Revesz syndrome613990; 268130
TMCO1Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome213980
TMEM165Congenital disorder of glycosylation, type IIk614727
TMEM231Joubert syndrome 20 ; Meckel syndrome 11614970; 615397
TMEM237Joubert syndrome 14614424
TMEM240Spinocerebellar ataxia 21607454
TMEM67COACH syndrome; Joubert syndrome 6 ; Meckel syndrome 3 ; Nephronophthisis 11 ; {Bardet-Biedl syndrome 14 modifier of}216360; 610688; 607361; 613550; 615991
TMEM70Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2614052
TMLHE{Autism,susceptibility to,X-linked 6}300872
TNIKMental retardation, autosomal recessive 54617028
TRAPPC11Muscular dystrophy, limb-girdle, type 2S615356
TRAPPC9Mental retardation, autosomal recessive 13613192
TRIM32Muscular dystrophy, limb-girdle, type 2H; ?Bardet-Biedl syndrome 11254110; 615988
TRIOMental retardation, autosomal dominant 44617061
TRMT10AMicrocephaly, short stature, and impaired glucose metabolism 1616033
TSEN54Pontocerebellar hypoplasia type 2A; Pontocerebellar hypoplasia type 4 ; ?Pontocerebellar hypoplasia type 5277470; 225753; 610204
TSPAN7Mental retardation, X-linked 58300210
TTC19Mitochondrial complex III deficiency, nuclear type 2615157
TTC37Trichohepatoenteric syndrome 1222470
TTC8Bardet-Biedl syndrome 8 ; ?Retinitis pigmentosa 51615985; 613464
TTI2Mental retardation, autosomal recessive 39615541
TUBA1ALissencephaly 3611603
TUBA8Polymicrogyria with optic nerve hypoplasia613180
TUBBCortical dysplasia, complex, with other brain malformations 6 ; Symmetric circumferential skin creases, congenital, 1615771; 156610
TUBB2BPolymicrogyria, symmetric or asymmetric610031
TUBB3Cortical dysplasia, complex, with other brain malformations 1 ; Fibrosis of extraocular muscles, congenital, 3A614039; 600638
TUBB4ADystonia 4 torsion, autosomal dominant; Leukodystrophy, hypomyelinating, 6128101; 612438
TUBGCP4Microcephaly and chorioretinopathy, autosomal recessive, 3616335
TUBGCP6Microcephaly and chorioretinopathy, autosomal recessive, 1251270
TUSC3Mental retardation, autosomal recessive 7611093
TWIST1Craniosynostosis, type 1 ; Robinow-Sorauf syndrome; Saethre-Chotzen syndrome with eyelid anomalies; Saethre-Chotzen syndrome123100; 180750; 101400
UBE2AMental retardation, X-linked syndromic, Nascimento-type300860
UBE3BKaufman oculocerebrofacial syndrome244450
UBR1Johanson-Blizzard syndrome243800
UNC80Hypotonia, infantile, with psychomotor retardation and characteristic facies 2616801
UPB1Beta-ureidopropionase deficiency613161
UPF3BMental retardation, X-linked, syndromic 14300676
UQCRQMitochondrial complex III deficiency, nuclear type 4615159
UROC1?Urocanase deficiency276880
USP9XMental retardation, X-linked 99 ; Mental retardation, X-linked 99 syndromic, female-restricted300919; 300968
VLDLRCerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1224050
VPS13BCohen syndrome216550
VPS37ASpastic paraplegia 53 autosomal recessive614898
VPS53Pontocerebellar hypoplasia, type 2E615851
VRK1Pontocerebellar hypoplasia type 1A607596
WACDesanto-Shinawi syndrome616708
WDR19Nephronophthisis 13 ; Senior-Loken syndrome 8 ; ?Cranioectodermal dysplasia 4 ; ?Short-rib thoracic dysplasia 5 with or without polydactyly614377; 616307; 614378; 614376
WDR45Neurodegeneration with brain iron accululation 5300894
WDR62Microcephaly 2 primary, autosomal recessive, with or without cortical malformations604317
WDR73Galloway-Mowat syndrome251300
WDR81Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2610185
XPAXeroderma pigmentosum, group A278700
XPNPEP3Nephronophthisis-like nephropathy 1613159
XYLT1Desbuquois dysplasia 2 ; {Pseudoxanthoma elasticum, modifier of severity of}615777; 264800
YAP1Coloboma, ocular; Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation120433
YWHAEDevelomental delay,facial dysmorphology and growth retardation (Enomoto -2012 Am J Med Genet A 158A); Developmental delay and mild brain structural abnormalities (Bi -2009 Nat Genet 41,168)NoOMIMPhenotype
ZBTB16Leukemia, acute promyelocytic, PL2F/RARA type ; Skeletal defects, genital hypoplasia, and mental retardation-; 612447
ZBTB18?Mental retardation, autosomal dominant 22612337
ZBTB20Primrose syndrome259050
ZBTB24Immunodeficiency-centromeric instability-facial anomalies syndrome-2614069
ZC3H14No OMIM phenotypeNoOMIMPhenotype
ZDHHC15?Mental retardation, X-linked 91300577
ZDHHC9Mental retardation, X-linked syndromic, Raymond type300799
ZFYVE26Spastic paraplegia 15 autosomal recessive270700
ZIC1Craniosynostosis 6616602
ZIC2Holoprosencephaly-5609637
ZMYND11Mental retardation, autosomal dominant 30616083
ZNF41Mental retardation, X-linked 89300848
ZNF592Spinocerebellar ataxia, autosomal recessive 5251300
ZNF674Mental retardation, X-linked 92300851
ZNF711Mental retardation, X-linked 97300803
ZNF81Mental retardation, X-linked 45300498
ZSWIM6Acromelic frontonasal dysostosis603671
ABCA4Cone-rod dystrophy 3, 604116 (3);Fundus flavimaculatus, 248200 (3);Retinal dystrophy, early-onset severe, 248200 (3);Retinitis pigmentosa 19, 601718 (3);Stargardt disease 1, 248200 (3);{Macular degeneration, age-related, 2}, 153800 (3);604116;248200;248200;601718;248200;153800;
ABCB7Anemia, sideroblastic, with ataxia, 301310 (3);301310;
ACAT1Alpha-methylacetoacetic aciduria, 203750 (3);203750;
ACAT2?ACAT2 deficiency, 614055 (1);614055;
ACD?Dyskeratosis congenita, autosomal dominant 6, 616553 (3);?Dyskeratosis congenita, autosomal recessive 7, 616553 (3);616553;616553;
ACERenal tubular dysgenesis, 267430 (3);[Angiotensin I-converting enzyme, benign serum increase] (3);{Angioedema induced by ACE inhibitors, susceptibility to}, 300909 (3);{Microvascular complications of diabetes 3}, 612624 (3);{Myocardial infarction, susceptibility to} (3);{SARS, progression of} (3);{Stroke, hemorrhagic}, 614519 (3);267430;300909;612624;614519;
ACER3?Leukodystrophy, progressive, early childhood-onset, 617762 (3);617762;
ACOX2Bile acid synthesis defect, congenital, 6, 617308 (3);617308;
ACP5Spondyloenchondrodysplasia with immune dysregulation, 607944 (3);607944;
ACTA1?Myopathy, scapulohumeroperoneal, 616852 (3);Myopathy, actin, congenital, with cores, 161800 (3);Myopathy, actin, congenital, with excess of thin myofilaments, 161800 (3);Myopathy, congenital, with fiber-type disproportion 1, 255310 (3);Nemaline myopathy 3, autosomal dominant or recessive, 161800 (3);616852;161800;161800;255310;161800;
ADAMTS10Weill-Marchesani syndrome 1, recessive, 277600 (3);277600;
ADIPOR1
AGBL5Retinitis pigmentosa 75, 617023 (3);617023;
AGKCataract 38, autosomal recessive, 614691 (3);Sengers syndrome, 212350 (3);614691;212350;
AGTRenal tubular dysgenesis, 267430 (3);{Hypertension, essential, susceptibility to}, 145500 (3);{Preeclampsia, susceptibility to} (3);267430;145500;
AGTR1Renal tubular dysgenesis, 267430 (3);{Hypertension, essential}, 145500 (3);267430;145500;
AIMP2Leukodystrophy, hypomyelinating, 17, 618006 (3);618006;
ALDH6A1Methylmalonate semialdehyde dehydrogenase deficiency, 614105 (3);614105;
ALDOAGlycogen storage disease XII, 611881 (3);611881;
ALOX12BIchthyosis, congenital, autosomal recessive 2, 242100 (3);242100;
ALOXE3Ichthyosis, congenital, autosomal recessive 3, 606545 (3);606545;
ALX3Frontonasal dysplasia 1, 136760 (3);136760;
AMMECR1Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, 300990 (3);300990;
ANTXR2Hyaline fibromatosis syndrome, 228600 (3);228600;
AP1S1MEDNIK syndrome, 609313 (3);609313;
AP5Z1Spastic paraplegia 48, autosomal recessive, 613647 (3);613647;
APCAdenoma, periampullary, somatic (3);Adenomatous polyposis coli, 175100 (3);Brain tumor-polyposis syndrome 2, 175100 (3);Colorectal cancer, somatic, 114500 (3);Desmoid disease, hereditary, 135290 (3);Gardner syndrome, 175100 (3);Gastric cancer, somatic, 613659 (3);Hepatoblastoma, somatic, 114550 (3);175100;175100;114500;135290;175100;613659;114550;
APOBHypercholesterolemia, due to ligand-defective apo B, 144010 (3);Hypobetalipoproteinemia, 615558 (3);144010;615558;
ARAndrogen insensitivity, 300068 (3);Androgen insensitivity, partial, with or without breast cancer, 312300 (3);Hypospadias 1, X-linked, 300633 (3);Spinal and bulbar muscular atrophy of Kennedy, 313200 (3);{Prostate cancer, susceptibility to}, 176807 (3);612290;300068;312300;616516;226600;249100;241520;300633;209950;615418;611590;313200;176807;241520;616516;249100;615418;
ARHGEF18Retinitis pigmentosa 78, 617433 (3);617433;
ARHGEF2?Neurodevelopmental disorder with midbrain and hindbrain malformations, 617523 (3);617523;
ARL2BPRetinitis pigmentosa with or without situs inversus, 615434 (3);615434;
ARSBMucopolysaccharidosis type VI (Maroteaux-Lamy), 253200 (3);253200;
ASCC1?Spinal muscular atrophy with congenital bone fractures 2, 616867 (3);Barrett esophagus/esophageal adenocarcinoma, 614266 (3);616867;614266;
ASH1LMental retardation, autosomal dominant 52, 617796 (3);617796;
ATG5?Spinocerebellar ataxia, autosomal recessive 25, 617584 (3);617584;
ATL1Neuropathy, hereditary sensory, type ID, 613708 (3);Spastic paraplegia 3A, autosomal dominant, 182600 (3);613708;182600;
ATP2B3?Spinocerebellar ataxia, X-linked 1, 302500 (3);302500;
ATP5E?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, 614053 (3);614053;
ATP6V1B1Renal tubular acidosis with deafness267300;
ATP6V1B2Deafness, congenital, with onychodystrophy, autosomal dominant, 124480 (3);Zimmermann-Laband syndrome 2, 616455 (3);124480;616455;
ATP7BWilson disease, 277900 (3);277900;
ATP8B1Cholestasis, benign recurrent intrahepatic, 243300 (3);Cholestasis, intrahepatic, of pregnancy, 1, 147480 (3);Cholestasis, progressive familial intrahepatic 1, 211600 (3);243300;147480;211600;
ATXN1Spinocerebellar ataxia 1, 164400 (3);164400;
ATXN7Spinocerebellar ataxia 7, 164500 (3);164500;
B3GALT6Ehlers-Danlos syndrome, spondylodysplastic type, 2, 615349 (3);Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, 271640 (3);615349;271640;
B4GALNT1Spastic paraplegia 26, autosomal recessive, 609195 (3);609195;
BBIP1?Bardet-Biedl syndrome 18, 615995 (3);615995;
BEST1Bestrophinopathy, autosomal recessive, 611809 (3);Macular dystrophy, vitelliform, 2, 153700 (3);Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, 193220 (3);Retinitis pigmentosa, concentric, 613194 (3);Retinitis pigmentosa-50, 613194 (3);Vitreoretinochoroidopathy, 193220 (3);611809;153700;193220;613194;613194;193220;
BGNMeester-Loeys syndrome, 300989 (3);Spondyloepimetaphyseal dysplasia, X-linked, 300106 (3);300989;300106;
BMP1Osteogenesis imperfecta, type XIII, 614856 (3);614856;
BMPERDiaphanospondylodysostosis, 608022 (3);608022;
BPTFNeurodevelopmental disorder with dysmorphic facies and distal limb anomalies, 617755 (3);617755;
BRCA1Fanconi anemia, complementation group S, 617883 (3);{Breast-ovarian cancer, familial, 1}, 604370 (3);{Pancreatic cancer, susceptibility to, 4}, 614320 (3);617883;604370;614320;
BRIP1Breast cancer, early-onset, 114480 (3);Fanconi anemia, complementation group J, 609054 (3);114480;609054;
BRPF1Intellectual developmental disorder with dysmorphic facies and ptosis, 617333 (3);617333;
BSNDBartter syndrome, type 4a, 602522 (3);Sensorineural deafness with mild renal dysfunction, 602522 (3);602522;602522;
CA4Retinitis pigmentosa 17, 600852 (3);600852;
CAMK2AMental retardation, autosomal dominant 53, 617798 (3);617798;
CAMK2BMental retardation, autosomal dominant 54, 617799 (3);617799;
CANT1Desbuquois dysplasia 1, 251450 (3);Epiphyseal dysplasia, multiple, 7, 617719 (3);251450;617719;
CATAcatalasemia, 614097 (3)614097;
CAV1?Lipodystrophy, congenital generalized, type 3, 612526 (3);?Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome, 606721 (3);Pulmonary hypertension, primary, 3, 615343 (3);612526;606721;615343;
CAV3Cardiomyopathy, familial hypertrophic, 192600 (3);Creatine phosphokinase, elevated serum, 123320 (3);Long QT syndrome 9, 611818 (3);Muscular dystrophy, limb-girdle, type IC, 607801 (3);Myopathy, distal, Tateyama type, 614321 (3);Rippling muscle disease, 606072 (3);192600;123320;611818;607801;614321;606072;
CAVIN1Lipodystrophy, congenital generalized, type 4, 613327 (3);613327;
CCDC28B{Bardet-Biedl syndrome 1, modifier of}, 209900 (3);209900;
CDC45Meier-Gorlin syndrome 7617063;
CDC6?Meier-Gorlin syndrome 5, 613805 (3);613805;
CDCA7Immunodeficiency-centromeric instability-facial anomalies syndrome 3, 616910 (3);616910;
CDHR1Cone-rod dystrophy 15, 613660 (3);Retinitis pigmentosa 65, 613660 (3);613660;613660;
CDK10Al Kaissi syndrome, 617694 (3);617694;
CDK13Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, 617360 (3);617360;
CDT1Meier-Gorlin syndrome 4, 613804 (3);613804;
CENPFStromme syndrome, 243605 (3);243605;
CEP19Morbid obesity and spermatogenic failure, 615703 (3);615703;
CEP83Nephronophthisis 18, 615862 (3);615862;
CEP89
CERKLRetinitis pigmentosa 26, 608380 (3);608380;
CFC1Heterotaxy, visceral, 2, autosomal, 605376 (3);605376;
CHD1Pilarowski-Bjornsson syndrome, 617682 (3);617682;
CHMCharcot-Marie-Tooth disease, dominant intermediate D, 607791 (3);Charcot-Marie-Tooth disease, type 1B, 118200 (3);Charcot-Marie-Tooth disease, type 2I, 607677 (3);Charcot-Marie-Tooth disease, type 2J, 607736 (3);Choroideremia, 303100 (3);Dejerine-Sottas disease, 145900 (3);Neuropathy, congenital hypomyelinating, 605253 (3);Roussy-Levy syndrome, 180800 (3);607791;118200;607677;607736;303100;145900;605253;180800;
CHMP1APontocerebellar hypoplasia, type 8, 614961 (3);614961;
CHRNGEscobar syndrome, 265000 (3);Multiple pterygium syndrome, lethal type, 253290 (3);265000;253290;
CHST14Ehlers-Danlos syndrome, musculocontractural type 1, 601776 (3);601776;
CHST3Spondyloepiphyseal dysplasia with congenital joint dislocations, 143095 (3);143095;
CHSY1Temtamy preaxial brachydactyly syndrome, 605282 (3);605282;
CIB2Deafness, autosomal recessive 48, 609439 (3);Usher syndrome, type IJ, 614869 (3);609439;614869;
CICMental retardation, autosomal dominant 45, 617600 (3);617600;
CLCNKABartter syndrome, type 4b, digenic, 613090 (3);613090;
CLK2You-Hoover-Fong syndrome, 616954 (3);616954;
CLRN1Retinitis pigmentosa 61, 614180 (3);Usher syndrome, type 3A, 276902 (3);614180;276902;
CNBPMyotonic dystrophy 2602668;
CNGA1Retinitis pigmentosa 49, 613756 (3);613756;
CNGB1Retinitis pigmentosa 45, 613767 (3);613767;
COL2A1Achondrogenesis, type II or hypochondrogenesis, 200610 (3);Avascular necrosis of the femoral head, 608805 (3);Czech dysplasia, 609162 (3);Epiphyseal dysplasia, multiple, with myopia and deafness, 132450 (3);Kniest dysplasia, 156550 (3);Legg-Calve-Perthes disease, 150600 (3);Osteoarthritis with mild chondrodysplasia, 604864 (3);Platyspondylic skeletal dysplasia, Torrance type, 151210 (3);SED congenita, 183900 (3);SMED Strudwick type, 184250 (3);Spondyloepiphyseal dysplasia, Stanescu type, 616583 (3);Spondyloperipheral dysplasia, 271700 (3);Stickler sydrome, type I, nonsyndromic ocular, 609508 (3);Stickler syndrome, type I, 108300 (3);Vitreoretinopathy with phalangeal epiphyseal dysplasia (3);200610;608805;609162;132450;156550;150600;604864;151210;183900;184250;616583;271700;609508;108300;
COL4A5Alport syndrome, 301050 (3);301050;
COL5A1Ehlers-Danlos syndrome, classic type, 1, 130000 (3);130000;
COL6A1Bethlem myopathy 1, 158810 (3);Ullrich congenital muscular dystrophy 1, 254090 (3);158810;254090;
COL6A2?Myosclerosis, congenital, 255600 (3);Bethlem myopathy 1, 158810 (3);Ullrich congenital muscular dystrophy 1, 254090 (3);255600;158810;254090;
COL6A3Bethlem myopathy 1, 158810 (3);Dystonia 27, 616411 (3);Ullrich congenital muscular dystrophy 1, 254090 (3);158810;616411;254090;
COL9A3Epiphyseal dysplasia, multiple, 3, with or without myopathy, 600969 (3);{Intervertebral disc disease, susceptibility to}, 603932 (3);600969;603932;
COLEC103MC syndrome 3, 248340 (3);248340;
COLQMyasthenic syndrome, congenital, 5, 603034 (3);603034;
COMPEpiphyseal dysplasia, multiple, 1, 132400 (3);Pseudoachondroplasia, 177170 (3);132400;177170;
COPB2?Microcephaly 19, primary, autosomal recessive, 617800 (3);617800;
COQ7?Coenzyme Q10 deficiency, primary, 8, 616733 (3);616733;
COX4I2Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, 612714 (3);612714;
CRELD1Atrioventricular septal defect, partial, with heterotaxy syndrome, 606217 (3);{Atrioventricular septal defect, susceptibility to, 2}, 606217 (3);606217;606217;
CRIPTShort stature with microcephaly and distinctive facies, 615789 (3);615789;
CRTAPOsteogenesis imperfecta, type VII, 610682 (3);610682;
CRYAACataract 9, multiple types, 604219 (3);604219;
CTNSCystinosis, atypical nephropathic, 219800 (3);Cystinosis, late-onset juvenile or adolescent nephropathic, 219900 (3);Cystinosis, nephropathic, 219800 (3);Cystinosis, ocular nonnephropathic, 219750 (3);219800;219900;219800;219750;
CUL73-M syndrome 1, 273750 (3);273750;
CWC27Retinitis pigmentosa with or without skeletal anomalies, 250410 (3);250410;
CWF19L1Spinocerebellar ataxia, autosomal recessive 17, 616127 (3);616127;
CXorf56?Mental retardation, X-linked 107, 301013 (3);301013;
CYFIP2Epileptic encephalopathy, early infantile, 65, 618008 (3);618008;
CYP1B1Anterior segment dysgenesis 6, multiple subtypes, 617315 (3);Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, 231300 (3);617315;231300;
CYP24A1Hypercalcemia, infantile, 1, 143880 (3);143880;
CYP2U1Spastic paraplegia 56, autosomal recessive, 615030 (3);615030;
CYP7B1Bile acid synthesis defect, congenital, 3, 613812 (3);Spastic paraplegia 5A, autosomal recessive, 270800 (3);613812;270800;
DACT1?Townes-Brocks syndrome 2, 617466 (3);617466;
DARSHypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 (3);615281;
DDR2Spondylometaepiphyseal dysplasia, short limb-hand type, 271665 (3);271665;
DDX59Orofaciodigital syndrome V, 174300 (3);174300;
DGCR2DiGeorge syndrome/velocardiofacial syndrome complex-2 (2);
DGCR6DiGeorge critical region
DGCR8DiGeorge critical region
DHX30Neurodevelopmental disorder with severe motor impairment and absent language, 617804 (3);617804;
DLL3Spondylocostal dysostosis 1, autosomal recessive, 277300 (3);277300;
DMXL2?Deafness, autosomal dominant 71, 617605 (3);?Polyendocrine-polyneuropathy syndrome, 616113 (3);Epileptic encephalopathy, early infantile, 81, 618663617605;616113;618663
DNA2?Seckel syndrome 8, 615807 (3);Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6, 615156 (3);615807;615156;
DNAI1Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400 (3);244400;
DNAJC12Hyperphenylalaninemia, mild, non-BH4-deficient, 617384 (3);617384;
DNAJC21Bone marrow failure syndrome 3, 617052 (3);617052;
DNAJC3?Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus, 616192 (3);616192;
DNAL4?Mirror movements 3, 616059 (3);616059;
DONSONMicrocephaly, short stature, and limb abnormalities, 617604 (3);Microcephaly-micromelia syndrome, 251230 (3);617604;251230;
DPM3Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, 612937 (3);612937;
DRD4Autonomic nervous system dysfunction (3);[Novelty seeking personality], 601696 (1);{Attention deficit-hyperactivity disorder}, 143465 (3);601696;143465;
DRD5{Attention deficit-hyperactivity disorder, susceptibility to}, 143465 (3);{Blepharospasm, primary benign}, 606798 (3);143465;606798;
DSG4Hypotrichosis 6, 607903 (3);607903;
DUOX2Thyroid dyshormonogenesis 6, 607200 (3);607200;
DUOXA2Thyroid dyshormonogenesis 5, 274900 (3);274900;
DVL1Robinow syndrome, autosomal dominant 2, 616331 (3);616331;
DVL3Robinow syndrome, autosomal dominant 3, 616894 (3);616894;
DYNC2LI1Short-rib thoracic dysplasia 15 with polydactyly, 617088 (3);617088;
EBF3Hypotonia, ataxia, and delayed development syndrome, 617330 (3);617330;
EDAEctodermal dysplasia 1, hypohidrotic, X-linked, 305100 (3);Tooth agenesis, selective, X-linked 1, 313500 (3);305100;313500;
EDNRBABCD syndrome, 600501 (3);Waardenburg syndrome, type 4A, 277580 (3);{Hirschsprung disease, susceptibility to, 2}, 600155 (3);600501;277580;600155;
EEDCohen-Gibson syndrome, 617561 (3);617561;
EFL1Shwachman-Diamond syndrome 2, 617941 (3);617941;
EFNB1Craniofrontonasal dysplasia, 304110 (3);304110;
ELAC2Combined oxidative phosphorylation deficiency 17, 615440 (3);{Prostate cancer, hereditary, 2, susceptibility to}, 614731 (3);615440;614731;
ELP2Mental retardation, autosomal recessive 58, 617270 (3);617270;
EMDEmery-Dreifuss muscular dystrophy 1, X-linked, 310300 (3);310300;
ENTPD1Spastic paraplegia 64, autosomal recessive, 615683 (3);615683;
EPRSLeukodystrophy, hypomyelinating, 15, 617951 (3);617951;
ERFChitayat syndrome, 617180 (3);Craniosynostosis 4, 600775 (3);617180;600775;
EXOSC2Short stature, hearing loss, retinitis pigmentosa, and distinctive facies, 617763 (3);617763;
EXOSC8Pontocerebellar hypoplasia, type 1C, 616081 (3);616081;
EXT1Chondrosarcoma, 215300 (3);Exostoses, multiple, type 1, 133700 (3);215300;133700;
EYA1?Otofaciocervical syndrome, 166780 (3);Anterior segment anomalies with or without cataract, 602588 (3);Branchiootic syndrome 1, 602588 (3);Branchiootorenal syndrome 1, with or without cataracts, 113650 (3);166780;602588;602588;113650;
EYSRetinitis pigmentosa 25, 602772 (3);602772;
F8Hemophilia A, 306700 (3);306700;
F9Hemophilia B, 306900 (3);Thrombophilia, X-linked, due to factor IX defect, 300807 (3);{Deep venous thrombosis, protection against}, 300807 (3);{Warfarin sensitivity}, 122700 (3);306900;300807;300807;122700;
FAM161ARetinitis pigmentosa 28, 606068 (3);606068;
FAM20CRaine syndrome, 259775 (3);259775;
FANCAFanconi anemia, complementation group A, 227650 (3);227650;
FANCBFanconi anemia, complementation group B, 300514 (3);300514;
FANCCFanconi anemia, complementation group C, 227645 (3);227645;
FANCD2Fanconi anemia, complementation group D2, 227646 (3);227646;
FANCEFanconi anemia, complementation group E, 600901 (3);600901;
FANCFFanconi anemia, complementation group F, 603467 (3);603467;
FANCGFanconi anemia, complementation group G, 614082 (3);614082;
FANCIFanconi anemia, complementation group I, 609053 (3);609053;
FANCLFanconi anemia, complementation group L, 614083 (3);614083;
FANCMSpermatogenic failure 28
FAT1
FBLN1Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses, 608180 (4);608180;
FBLN5Cutis laxa, autosomal dominant 2, 614434 (3);Cutis laxa, autosomal recessive, type IA, 219100 (3);Macular degeneration, age-related, 3, 608895 (3);Neuropathy, hereditary, with or without age-related macular degeneration, 608895 (3);614434;219100;608895;608895;
FBN2Contractural arachnodactyly, congenital, 121050 (3);Macular degeneration, early-onset, 616118 (3);121050;616118;
FCN3Immunodeficiency due to ficolin 3 deficiency, 613860 (3);613860;
FGF14Spinocerebellar ataxia 27, 609307 (3);609307;
FHL1?Uruguay faciocardiomusculoskeletal syndrome, 300280 (3);Emery-Dreifuss muscular dystrophy 6, X-linked, 300696 (3);Hemophagocytic lymphohistiocytosis, familial, 1 (2);Myopathy, X-linked, with postural muscle atrophy, 300696 (3);Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset, 300717 (3);Reducing body myopathy, X-linked 1b, with late childhood or adult onset, 300718 (3);Scapuloperoneal myopathy, X-linked dominant, 300695 (3);300280;300696;1;300696;300717;300718;300695;
FIBPThauvin-Robinet-Faivre syndrome, 617107 (3);617107;
FLNBAtelosteogenesis, type I, 108720 (3);Atelosteogenesis, type III, 108721 (3);Boomerang dysplasia, 112310 (3);Larsen syndrome, 150250 (3);Spondylocarpotarsal synostosis syndrome, 272460 (3);108720;108721;112310;150250;272460;
FLVCR2Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, 225790 (3);225790;
FOXE1Bamforth-Lazarus syndrome, 241850 (3);{Thyroid cancer, nonmedullary, 4}, 616534 (3);241850;616534;
FOXI1Enlarged vestibular aqueduct, 600791 (3);600791;
FOXL2Blepharophimosis, epicanthus inversus, and ptosis, type 1, 110100 (3);Blepharophimosis, epicanthus inversus, and ptosis, type 2, 110100 (3);Premature ovarian failure 3, 608996 (3);110100;110100;608996;
FRMD4A?Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, 616819 (3);616819;
FSCN2Retinitis pigmentosa 30, 607921 (3);607921;
FUT8Congenital disorder of glycosylation with defective fucosylation, 618005 (3);618005;
FZD4Exudative vitreoretinopathy 1, 133780 (3);Retinopathy of prematurity, 133780 (3);133780;133780;
G6PC3Dursun syndrome, 612541 (3);Neutropenia, severe congenital 4, autosomal recessive, 612541 (3);612541;612541;
GALK1Galactokinase deficiency with cataracts, 230200 (3);230200;
GALNSMucopolysaccharidosis IVA, 253000 (3);253000;
GANGiant axonal neuropathy-1, 256850 (3);256850;
GATA1Anemia, X-linked, with/without neutropenia and/or platelet abnormalities, 300835 (3);Leukemia, megakaryoblastic, with or without Down syndrome, somatic, 190685 (3);Thrombocytopenia with beta-thalassemia, X-linked, 314050 (3);Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367 (3);300835;190685;314050;300367;
GBA2Spastic paraplegia 46, autosomal recessive, 614409 (3);614409;
GBE1Glycogen storage disease IV, 232500 (3);Polyglucosan body disease, adult form, 263570 (3);232500;263570;
GDF1Congenital heart defects, multiple types, 6, 613854 (3);Right atrial isomerism (Ivemark), 208530 (3);613854;208530;
GDF5?Acromesomelic dysplasia, Hunter-Thompson type, 201250 (3);Brachydactyly, type A1, C, 615072 (3);Brachydactyly, type A2, 112600 (3);Brachydactyly, type C, 113100 (3);Chondrodysplasia, Grebe type, 200700 (3);Du Pan syndrome, 228900 (3);Multiple synostoses syndrome 2, 610017 (3);Symphalangism, proximal, 1B, 615298 (3);{Osteoarthritis-5}, 612400 (3);201250;615072;112600;113100;200700;228900;610017;615298;612400;
GEMIN4Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, 617913 (3);617913;
GFERMyopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay, 613076 (3);613076;
GGT1?Glutathioninuria, 231950 (3);231950;
GH1Growth hormone deficiency, isolated, type IA, 262400 (3);Growth hormone deficiency, isolated, type IB, 612781 (3);Growth hormone deficiency, isolated, type II, 173100 (3);Kowarski syndrome, 262650 (3);262400;612781;173100;262650;
GHRGrowth hormone insensitivity, partial, 604271 (3);Increased responsiveness to growth hormone, 604271 (3);Laron dwarfism, 262500 (3);{Hypercholesterolemia, familial, modifier of}, 143890 (3);604271;604271;262500;143890;
GIFIntrinsic factor deficiency, 261000 (3);261000;
GJA5Atrial fibrillation, familial, 11, 614049 (3);Atrial standstill, digenic (GJA5/SCN5A), 108770 (3);Atrial standstill, digenic (GJA5/SCN5A), 108770 (3);614049;108770;108770;
GJA8Cataract 1, multiple types, 116200 (3);116200;
GJB2Bart-Pumphrey syndrome, 149200 (3);Deafness, autosomal dominant 3A, 601544 (3);Deafness, autosomal recessive 1A, 220290 (3);Deafness, digenic GJB2/GJB6, 220290 (3);Deafness, digenic, GJB2/GJB3, 220290 (3);Hystrix-like ichthyosis with deafness, 602540 (3);Keratitis-ichthyosis-deafness syndrome, 148210 (3);Keratoderma, palmoplantar, with deafness, 148350 (3);Vohwinkel syndrome, 124500 (3);Deafness, digenic, GJB2/GJB3, 220290 (3);Deafness, digenic GJB2/GJB6, 220290 (3);149200;601544;220290;220290;220290;602540;148210;148350;124500;220290;220290;
GJB3Deafness, digenic, GJB2/GJB3, 220290 (3);Deafness, autosomal dominant 2B, 612644 (3);Deafness, autosomal dominant, with peripheral neuropathy (3);Deafness, autosomal recessive (3);Deafness, digenic, GJB2/GJB3, 220290 (3);Erythrokeratodermia variabilis et progressiva 1, 133200 (3);220290;612644;220290;133200;
GJB4Erythrokeratodermia variabilis et progressiva 2, 617524 (3);617524;
GJB6Deafness, digenic GJB2/GJB6, 220290 (3);Deafness, autosomal dominant 3B, 612643 (3);Deafness, autosomal recessive 1B, 612645 (3);Deafness, digenic GJB2/GJB6, 220290 (3);Ectodermal dysplasia 2, Clouston type, 129500 (3);220290;612643;612645;220290;129500;
GLIS3Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 (3);610199;
GLO1
GMNNMeier-Gorlin syndrome 6, 616835 (3);616835;
GNPTG
GORABGeroderma osteodysplasticum, 231070 (3);231070;
GPC6Omodysplasia 1, 258315 (3);258315;
GPIHemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, 613470 (3);613470;
GPR143Nystagmus 6, congenital, X-linked, 300814 (3);Ocular albinism, type I, Nettleship-Falls type, 300500 (3);300814;300500;
GPR161
GPR88?Chorea, childhood-onset, with psychomotor retardation, 616939 (3);616939;
GSCShort stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities, 602471 (3);602471;
GTF2E2Trichothiodystrophy 6, nonphotosensitive, 616943 (3);616943;
GTPBP2Jaberi-Elahi syndrome, 617988 (3);617988;
GUCA1BRetinitis pigmentosa 48, 613827 (3);613827;
H19Beckwith-Wiedemann syndrome, 130650 (3);Silver-Russell syndrome, 180860 (3);Wilms tumor 2, 194071 (3);130650;180860;194071;
HAAOVertebral, cardiac, renal, and limb defects syndrome 1, 617660 (3);617660;
HAL[Histidinemia], 235800 (3);235800;
HBA1Erythrocytosis, 7, 617981 (3);Heinz body anemias, alpha-, 140700 (3);Hemoglobin H disease, nondeletional, 613978 (3);Methemoglobinemia, alpha type, 617973 (3);Thalassemias, alpha-, 604131 (3);617981;140700;613978;617973;604131;
HBA2Erythrocytosis 7, 617981 (3);Heinz body anemia, 140700 (3);Hemoglobin H disease, deletional and nondeletional, 613978 (3);Thalassemia, alpha-, 604131 (3);617981;140700;613978;604131;
HBBDelta-beta thalassemia, 141749 (3);Erythrocytosis 6, 617980 (3);Heinz body anemia, 140700 (3);Hereditary persistence of fetal hemoglobin, 141749 (3);Methmoglobinemia, beta type, 617971 (3);Sickle cell anemia, 603903 (3);Thalassemia, beta, 613985 (3);Thalassemia-beta, dominant inclusion-body, 603902 (3);{Malaria, resistance to}, 611162 (3);141749;617980;140700;141749;617971;603903;613985;603902;611162;
HCN4Brugada syndrome 8, 613123 (3);Sick sinus syndrome 2, 163800 (3);613123;163800;
HDAC1
HDC{Gilles de la Tourette syndrome, susceptibility to}, 137580 (3);137580;
HELLSImmunodeficiency-centromeric instability-facial anomalies syndrome 4, 616911 (3);616911;
HES7Spondylocostal dysostosis 4, autosomal recessive, 613686 (3);613686;
HIKESHILeukodystrophy, hypomyelinating, 13, 616881 (3);616881;
HIST1H1ERahman syndrome, 617537 (3);617537;
HMGA2Leiomyoma, uterine, somatic, 150699 (1);150699;
HMGB3?Microphthalmia, syndromic 13, 300915 (3);300915;
HNRNPA1?Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3, 615424 (3);Amyotrophic lateral sclerosis 20, 615426 (3);615424;615426;
HNRNPA2B1
HNRNPKAu-Kline syndrome, 616580 (3);616580;
HOXD13?Brachydactyly-syndactyly syndrome, 610713 (3);Brachydactyly, type D, 113200 (3);Brachydactyly, type E, 113300 (3);Syndactyly, type V, 186300 (3);Synpolydactyly 1, 186000 (3);610713;113200;113300;186300;186000;
HSPA9Anemia, sideroblastic, 4, 182170 (3);Even-plus syndrome, 616854 (3);182170;616854;
HSPG2Dyssegmental dysplasia, Silverman-Handmaker type, 224410 (3);Schwartz-Jampel syndrome, type 1, 255800 (3);224410;255800;
HYAL1?Mucopolysaccharidosis type IX, 601492 (3);601492;
IDH3BRetinitis pigmentosa 46, 612572 (3);612572;
IFT122Cranioectodermal dysplasia 1, 218330 (3);218330;
IFT27?Bardet-Biedl syndrome 19, 615996 (3);615996;
IFT74?Bardet-Biedl syndrome 20, 617119 (3);617119;
IFT81Short-rib thoracic dysplasia 19 with or without polydactyly, 617895 (3);617895;
IGF1RInsulin-like growth factor I, resistance to, 270450 (3);270450;
IGF2?Growth restriction, severe, with distinctive facies, 616489 (3);616489;
IHHAcrocapitofemoral dysplasia, 607778 (3);Brachydactyly, type A1, 112500 (3);607778;112500;
IMPG2Macular dystrophy, vitelliform, 5, 616152 (3);Retinitis pigmentosa 56, 613581 (3);616152;613581;
INVSNephronophthisis 2, infantile, 602088 (3);602088;
IRX5Hamamy syndrome, 611174 (3);611174;
ISCA1Multiple mitochondrial dysfunctions syndrome 5, 617613 (3);617613;
ITCHAutoimmune disease, multisystem, with facial dysmorphism, 613385 (3);613385;
ITGA7Muscular dystrophy, congenital, due to ITGA7 deficiency, 613204 (3);613204;
ITGB2Leukocyte adhesion deficiency, 116920 (3);116920;
IYDThyroid dyshormonogenesis 4, 274800 (3);274800;
KCNQ5Mental retardation, autosomal dominant 46, 617601 (3);617601;
KCNT2?Epileptic encephalopathy, early infantile, 57, 617771 (3);617771;
KDSRErythrokeratodermia variabilis et progressiva 4, 617526 (3);617526;
KIDINS220Spastic paraplegia, intellectual disability, nystagmus, and obesity, 617296 (3);617296;
KIF14?Meckel syndrome 12, 616258 (3);Microcephaly 20, primary, autosomal recessive, 617914 (3);616258;617914;
KIF1CSpastic ataxia 2, autosomal recessive, 611302 (3);611302;
KIF21AFibrosis of extraocular muscles, congenital, 1, 135700 (3);Fibrosis of extraocular muscles, congenital, 3B, 135700 (3);135700;135700;
KIF22Spondyloepimetaphyseal dysplasia with joint laxity, type 2, 603546 (3);603546;
KITGastrointestinal stromal tumor, familial, 606764 (3);Germ cell tumors, somatic, 273300 (3);Leukemia, acute myeloid, 601626 (3);Mastocytosis, cutaneous, 154800 (3);Mastocytosis, systemic, somatic, 154800 (3);Piebaldism, 172800 (3);606764;273300;601626;154800;154800;172800;
KIZRetinitis pigmentosa 69, 615780 (3);615780;
KLF8
KMT2BDystonia 28, childhood-onset, 617284 (3);617284;
KMT2CKleefstra syndrome 2, 617768 (3);617768;
KMT5BMental retardation, autosomal dominant 51, 617788 (3);617788;
KRT16Pachyonychia congenita 1, 167200 (3);Palmoplantar keratoderma, nonepidermolytic, focal, 613000 (3);167200;613000;
KRT25Woolly hair, autosomal recessive 3, 616760 (3);616760;
KRT81Monilethrix, 158000 (3);158000;
KRT83Erythrokeratodermia variabilis et progressiva 5, 617756 (3);Monilethrix, 158000 (3);617756;158000;
KRT85Ectodermal dysplasia 4, hair/nail type, 602032 (3);602032;
KRT86Monilethrix, 158000 (3);158000;
KYMyopathy, myofibrillar, 7, 617114 (3);617114;
KYNU?Hydroxykynureninuria, 236800 (3);Vertebral, cardiac, renal, and limb defects syndrome 2, 617661 (3);236800;617661;
LAMB2Nephrotic syndrome, type 5, with or without ocular abnormalities, 614199 (3);Pierson syndrome, 609049 (3);614199;609049;
LEMD3Buschke-Ollendorff syndrome, 166700 (3);Osteopoikilosis with or without melorheostosis, 166700 (3);166700;166700;
LEPRObesity, morbid, due to leptin receptor deficiency, 614963 (3);614963;
LFNG?Spondylocostal dysostosis 3, autosomal recessive, 609813 (3);609813;
LGR4{Bone mineral density, low, susceptibility to}, 615311 (3);615311;
LHX3Pituitary hormone deficiency, combined, 3, 221750 (3);221750;
LIFRStuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, 601559 (3);601559;
LIMK1
LIPACholesteryl ester storage disease, 278000 (3);Wolman disease, 278000 (3);278000;278000;
LIPT1Lipoyltransferase 1 deficiency, 616299 (3);616299;
LIPT2Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, 617668 (3);617668;
LMBR1Acheiropody, 200500 (3);Hypoplastic or aplastic tibia with polydactyly, 188740 (3);Laurin-Sandrow syndrome, 135750 (3);Polydactyly, preaxial type II, 174500 (3);Syndactyly, type IV, 186200 (3);Triphalangeal thumb, type I, 174500 (3);Triphalangeal thumb-polysyndactyly syndrome, 174500 (3);200500;188740;135750;174500;186200;174500;174500;
LMNB1Leukodystrophy, adult-onset, autosomal dominant, 169500 (3);169500;
LRMDA
LRP5Exudative vitreoretinopathy 4, 601813 (3);Hyperostosis, endosteal, 144750 (3);Osteopetrosis, autosomal dominant 1, 607634 (3);Osteoporosis-pseudoglioma syndrome, 259770 (3);Osteosclerosis, 144750 (3);Polycystic liver disease 4 with or without kidney cysts, 617875 (3);[Bone mineral density variability 1], 601884 (3);van Buchem disease, type 2, 607636 (3);{Osteoporosis}, 166710 (3);601813;144750;607634;259770;144750;617875;601884;607636;166710;
LTBP2?Weill-Marchesani syndrome 3, recessive, 614819 (3);Dental anomalies and short stature, 601216 (3);Geleophysic dysplasia 3, 617809 (3);Glaucoma 3, primary congenital, D, 613086 (3);Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, 251750 (3);614819;601216;617809;613086;251750;
LTBP4Cutis laxa, autosomal recessive, type IC, 613177 (3);613177;
LTC4SLeukotriene C4 synthase deficiency, 614037 (1);614037;
LYRM7Mitochondrial complex III deficiency, nuclear type 8, 615838 (3);615838;
MAB21L2Microphthalmia/coloboma and skeletal dysplasia syndrome, 615877 (3);615877;
MAD2L2?Fanconi anemia, complementation group V, 617243 (3);617243;
MAGSpastic paraplegia 75, autosomal recessive, 616680 (3);616680;
MAGED2Bartter syndrome, type 5, antenatal, transient, 300971 (3);300971;
MAKRetinitis pigmentosa 62, 614181 (3);614181;
MAP3K20
MAP3K7Cardiospondylocarpofacial syndrome, 157800 (3);Frontometaphyseal dysplasia 2, 617137 (3);157800;617137;
MARS2?Combined oxidative phosphorylation deficiency 25, 616430 (3);Spastic ataxia 3, autosomal recessive, 611390 (3);616430;611390;
MASP13MC syndrome 1, 257920 (3);257920;
MCM4Immunodeficiency 54, 609981 (3);609981;
MEF2A{Coronary artery disease, autosomal dominant, 1}, 608320 (3);608320;
MEGF8Carpenter syndrome 2, 614976 (3);614976;
MERTKRetinitis pigmentosa 38, 613862 (3);613862;
MESP2Spondylocostal dysostosis 2, autosomal recessive, 608681 (3);608681;
MFRPMicrophthalmia, isolated 5, 611040 (3);Nanophthalmos 2, 609549 (3);611040;609549;
MGME1Mitochondrial DNA depletion syndrome 11, 615084 (3);615084;
MLXIPL
MMABMethylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type, 251110 (3);251110;
MNX1Currarino syndrome, 176450 (3);176450;
MORC2Charcot-Marie-Tooth disease, axonal, type 2Z, 616688 (3);616688;
MPICongenital disorder of glycosylation, type Ib, 602579 (3);602579;
MPV17Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 (3);256810;
MRPS2Combined oxidative phosphorylation deficiency 36, 617950 (3);617950;
MRPS34Combined oxidative phosphorylation deficiency 32, 617664 (3);617664;
MSMO1Microcephaly, congenital cataract, and psoriasiform dermatitis, 616834 (3);616834;
MSTO1Myopathy, mitochondrial, and ataxia, 617675 (3);617675;
MSX1Ectodermal dysplasia 3, Witkop type, 189500 (3);Orofacial cleft 5, 608874 (3);Tooth agenesis, selective, 1, with or without orofacial cleft, 106600 (3);189500;608874;106600;
MTHFD1Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, 617780 (3);{Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3);617780;601634;
MYH7Cardiomyopathy, dilated, 1S, 613426 (3);Cardiomyopathy, hypertrophic, 1, 192600 (3);Laing distal myopathy, 160500 (3);Left ventricular noncompaction 5, 613426 (3);Myopathy, myosin storage, autosomal dominant, 608358 (3);Myopathy, myosin storage, autosomal recessive, 255160 (3);Scapuloperoneal syndrome, myopathic type, 181430 (3);613426;192600;160500;613426;608358;255160;181430;
MYL2Cardiomyopathy, hypertrophic, 10, 608758 (3);608758;
MYL7
MYMKCarey-Fineman-Ziter syndrome, 254940 (3);254940;
MYO15ADeafness, autosomal recessive 3, 600316 (3);600316;
MYO5BMicrovillus inclusion disease, 251850 (3);251850;
MYO7ADeafness, autosomal dominant 11, 601317 (3);Deafness, autosomal recessive 2, 600060 (3);Usher syndrome, type 1B, 276900 (3);601317;600060;276900;
NAA15Mental retardation, autosomal dominant 50, 617787 (3);617787;
NBEA
NCAPD2?Microcephaly 21, primary, autosomal recessive, 617983 (3);617983;
NEFLCharcot-Marie-Tooth disease, dominant intermediate G, 617882 (3);Charcot-Marie-Tooth disease, type 1F, 607734 (3);Charcot-Marie-Tooth disease, type 2E, 607684 (3);617882;607734;607684;
NEK2?Retinitis pigmentosa 67, 615565 (3);615565;
NFE2L2Immunodeficiency, developmental delay, and hypohomocysteinemia, 617744 (3);617744;
NFU1Multiple mitochondrial dysfunctions syndrome 1, 605711 (3);605711;
NGFNeuropathy, hereditary sensory and autonomic, type V, 608654 (3);608654;
NHP2Dyskeratosis congenita, autosomal recessive 2, 613987 (3);613987;
NKX2-5Atrial septal defect 7, with or without AV conduction defects, 108900 (3);Conotruncal heart malformations, variable, 217095 (3);Hypoplastic left heart syndrome 2, 614435 (3);Hypothyroidism, congenital nongoitrous, 5, 225250 (3);Tetralogy of Fallot, 187500 (3);Ventricular septal defect 3, 614432 (3);108900;217095;614435;225250;187500;614432;
NKX2-6Conotruncal heart malformations, 217095 (3);Persistent truncus arteriosus, 217095 (3);217095;217095;
NLRC4?Familial cold autoinflammatory syndrome 4, 616115 (3);Autoinflammation with infantile enterocolitis, 616050 (3);616115;616050;
NODALHeterotaxy, visceral, 5, 270100 (3);270100;
NOGBrachydactyly, type B2, 611377 (3);Multiple synostoses syndrome 1, 186500 (3);Stapes ankylosis with broad thumbs and toes, 184460 (3);Symphalangism, proximal, 1A, 185800 (3);Tarsal-carpal coalition syndrome, 186570 (3);611377;186500;184460;185800;186570;
NOP10Dyskeratosis congenita, autosomal recessive 1, 224230 (3);224230;
NPHP3Meckel syndrome 7, 267010 (3);Nephronophthisis 3, 604387 (3);Renal-hepatic-pancreatic dysplasia 1, 208540 (3);267010;604387;208540;
NPHP4Nephronophthisis 4, 606966 (3);Senior-Loken syndrome 4, 606996 (3);606966;606996;
NPR2Acromesomelic dysplasia, Maroteaux type, 602875 (3);Epiphyseal chondrodysplasia, Miura type, 615923 (3);Short stature with nonspecific skeletal abnormalities, 616255 (3);602875;615923;616255;
NR0B146XY sex reversal 2, dosage-sensitive, 300018 (3);Adrenal hypoplasia, congenital, 300200 (3);300018;300200;
NR1I3
NR2E3Enhanced S-cone syndrome, 268100 (3);Retinitis pigmentosa 37, 611131 (3);268100;611131;
NRLRetinal degeneration, autosomal recessive, clumped pigment type (3);Retinitis pigmentosa 27, 613750 (3);type;613750;
NSMCE3Lung disease, immunodeficiency, and chromosome breakage syndrome, 617241 (3);617241;
NT5C2Spastic paraplegia 45, autosomal recessive, 613162 (3);613162;
OATGyrate atrophy of choroid and retina with or without ornithinemia, 258870 (3);258870;
OGDHAlpha-ketoglutarate dehydrogenase deficiency, 203740 (1);203740;
OGTMental retardation, X-linked 106, 300997 (3);300997;
OPA1?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), 616896 (3);Behr syndrome, 210000 (3);Optic atrophy 1, 165500 (3);Optic atrophy plus syndrome, 125250 (3);{Glaucoma, normal tension, susceptibility to}, 606657 (3);616896;210000;165500;125250;606657;
OPA33-methylglutaconic aciduria, type III, 258501 (3);Optic atrophy 3 with cataract, 165300 (3);258501;165300;
ORC4Meier-Gorlin syndrome 2, 613800 (3);613800;
ORC6Meier-Gorlin syndrome 3, 613803 (3);613803;
P3H1Osteogenesis imperfecta, type VIII, 610915 (3);610915;
P4HBCole-Carpenter syndrome 1, 112240 (3);112240;
PALB2Fanconi anemia, complementation group N, 610832 (3);{Breast cancer, susceptibility to}, 114480 (3);{Pancreatic cancer, susceptibility to, 3}, 613348 (3);610832;114480;613348;
PAM16Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, 613320 (3);613320;
PAX3Craniofacial-deafness-hand syndrome, 122880 (3);Rhabdomyosarcoma 2, alveolar, 268220 (3);Waardenburg syndrome, type 1, 193500 (3);Waardenburg syndrome, type 3, 148820 (3);122880;268220;193500;148820;
PBX1Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, 617641 (3);617641;
PCARE
PCDH15Deafness, autosomal recessive 23, 609533 (3);Usher syndrome, type 1D/F digenic, 601067 (3);Usher syndrome, type 1F, 602083 (3);609533;601067;602083;
PCNA?Ataxia-telangiectasia-like disorder 2, 615919 (3);615919;
PDE3AHypertension and brachydactyly syndrome, 112410 (3);112410;
PDE6ARetinitis pigmentosa 43, 613810 (3);613810;
PDE6BNight blindness, congenital stationary, autosomal dominant 2, 163500 (3);Retinitis pigmentosa-40, 613801 (3);163500;613801;
PDE6D?Joubert syndrome 22, 615665 (3);615665;
PDE6GRetinitis pigmentosa 57, 613582 (3);613582;
PHC1?Microcephaly 11, primary, autosomal recessive, 615414 (3);615414;
PHIPDevelopmental delay, intellectual disability, obesity, and dysmorphic features, 617991 (3);617991;
PHKA2Glycogen storage disease, type IXa1, 306000 (3);Glycogen storage disease, type IXa2, 306000 (3);306000;306000;
PHKBPhosphorylase kinase deficiency of liver and muscle, autosomal recessive, 261750 (3);261750;
PHYHRefsum disease, 266500 (3);266500;
PIGHGlycosylphosphatidylinositol biosynthesis defect 17, 618010 (3);618010;
PIGP?Epileptic encephalopathy, early infantile, 55, 617599 (3);617599;
PIK3R1?Agammaglobulinemia 7, autosomal recessive, 615214 (3);Immunodeficiency 36, 616005 (3);SHORT syndrome, 269880 (3);615214;616005;269880;
PITX2Anterior segment dysgenesis 4, 137600 (3);Axenfeld-Rieger syndrome, type 1, 180500 (3);Ring dermoid of cornea, 180550 (3);137600;180500;180550;
PITX3Anterior segment dysgenesis 1, multiple subtypes, 107250 (3);Cataract 11, multiple types, 610623 (3);Cataract 11, syndromic, 610623 (3);107250;610623;610623;
PLAANeurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, 617527 (3);617527;
PLOD1Ehlers-Danlos syndrome, kyphoscoliotic type, 1, 225400 (3);225400;
PLOD3Lysyl hydroxylase 3 deficiency, 612394 (3);612394;
PMPCASpinocerebellar ataxia, autosomal recessive 2, 213200 (3);213200;
PMPCBMultiple mitochondrial dysfunctions syndrome 6, 617954 (3);617954;
PNPLA6?Laurence-Moon syndrome, 245800 (3);Boucher-Neuhauser syndrome, 215470 (3);Oliver-McFarlane syndrome, 275400 (3);Spastic paraplegia 39, autosomal recessive, 612020 (3);245800;215470;275400;612020;
POC1BCone-rod dystrophy 20, 615973 (3);615973;
POLR1CLeukodystrophy, hypomyelinating, 11, 616494 (3);Treacher Collins syndrome 3, 248390 (3);616494;248390;
POLR1DTreacher Collins syndrome 2, 613717 (3);613717;
PORAntley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750 (3);Disordered steroidogenesis due to cytochrome P450 oxidoreductase, 613571 (3);201750;613571;
POU3F4Deafness, X-linked 2, 304400 (3);304400;
PPARGCarotid intimal medial thickness 1, 609338 (3);Insulin resistance, severe, digenic, 604367 (3);Lipodystrophy, familial partial, type 3, 604367 (3);Obesity, severe, 601665 (3);[Obesity, resistance to] (3);{Diabetes, type 2}, 125853 (3);609338;604367;604367;601665;125853;
PPM1DBreast cancer, somatic, 114480 (3);Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold, 617450 (3);114480;617450;
PPP1CBNoonan syndrome-like disorder with loose anagen hair 2, 617506 (3);617506;
PRCDRetinitis pigmentosa 36, 610599 (3);610599;
PRKACACushing syndrome, ACTH-independent adrenal, somatic, 615830 (3);615830;
PRKAR1AAcrodysostosis 1, with or without hormone resistance, 101800 (3);Adrenocortical tumor, somatic, (3);Carney complex, type 1, 160980 (3);Myxoma, intracardiac, 255960 (3);Pigmented nodular adrenocortical disease, primary, 1, 610489 (3);101800;160980;255960;610489;
PRKCGSpinocerebellar ataxia 14, 605361 (3);605361;
PRKD1Congenital heart defects and ectodermal dysplasia, 617364 (3);617364;
PROM1Cone-rod dystrophy 12, 612657 (3);Macular dystrophy, retinal, 2, 608051 (3);Retinitis pigmentosa 41, 612095 (3);Stargardt disease 4, 603786 (3);612657;608051;612095;603786;
PRPF3Retinitis pigmentosa 18, 601414 (3);601414;
PRPF31Retinitis pigmentosa 11, 600138 (3);600138;
PRPF4Retinitis pigmentosa 70, 615922 (3);615922;
PRPF6Retinitis pigmentosa 60, 613983 (3);613983;
PRPF8Retinitis pigmentosa 13, 600059 (3);600059;
PRPH2Choroidal dystrophy, central areolar 2, 613105 (3);Leber congenital amaurosis 18, 608133 (3);Macular dystrophy, patterned, 1, 169150 (3);Macular dystrophy, vitelliform, 3, 608161 (3);Retinitis pigmentosa 7 and digenic, 608133 (3);Retinitis punctata albescens, 136880 (3);613105;608133;169150;608161;608133;136880;
PRUNE1Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies, 617481 (3);617481;
PSMD12Stankiewicz-Isidor syndrome, 617516 (3);617516;
PTCH2Basal cell carcinoma, somatic, 605462 (3);Basal cell nevus syndrome, 109400 (3);Medulloblastoma, somatic, 155255 (3);605462;109400;155255;
PTH1R
PTPRT
PTRH2Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, 616263 (3);616263;
PUM1Spinocerebellar ataxia 47, 617931 (3);617931;
PYGLGlycogen storage disease VI, 232700 (3);232700;
QRICH1Ververi-Brady syndrome, 617982 (3);617982;
RAB11BNeurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, 617807 (3);617807;
RAB23Carpenter syndrome, 201000 (3);201000;
RAB33BSmith-McCort dysplasia 2, 615222 (3);615222;
RAD50Nijmegen breakage syndrome-like disorder, 613078 (3);613078;
RAD51
RAD51CFanconi anemia, complementation group O, 613390 (3);{Breast-ovarian cancer, familial, susceptibility to, 3}, 613399 (3);613390;613399;
RARBMicrophthalmia, syndromic 12, 615524 (3);615524;
RARSLeukodystrophy, hypomyelinating, 9, 616140 (3);616140;
RB1Bladder cancer, somatic, 109800 (3);Osteosarcoma, somatic, 259500 (3);Retinoblastoma, 180200 (3);Retinoblastoma, trilateral, 180200 (3);Small cell cancer of the lung, somatic, 182280 (3);109800;259500;180200;180200;182280;
RBBP8Jawad syndrome, 251255 (3);Pancreatic carcinoma, somatic (3);Seckel syndrome 2, 606744 (3);251255;606744;
RBMX?Mental retardation, X-linked, syndromic 11, Shashi type, 300238 (3);300238;
RBP3?Retinitis pigmentosa 66, 615233 (3);615233;
RCBTB1Retinal dystrophy with or without extraocular anomalies, 617175 (3);617175;
RDH11?Retinal dystrophy, juvenile cataracts, and short stature syndrome, 616108 (3);616108;
REEP6Retinitis pigmentosa 77, 617304 (3);617304;
RENHyperuricemic nephropathy, familial juvenile 2, 613092 (3);Renal tubular dysgenesis, 267430 (3);[Hyperproreninemia] (3);613092;267430;
RFWD3?Fanconi anemia, complementation group W, 617784 (3);617784;
RGRRetinitis pigmentosa 44, 613769 (3);613769;
RHD[Rh-negative blood type] (3);type];
RHONight blindness, congenital stationary, autosomal dominant 1, 610445 (3);Retinitis pigmentosa 4, autosomal dominant or recessive, 613731 (3);Retinitis punctata albescens, 136880 (3);610445;613731;136880;
RHOBTB2Epileptic encephalopathy, early infantile, 64, 618004 (3);618004;
RIN2Macrocephaly, alopecia, cutis laxa, and scoliosis, 613075 (3);613075;
RIPK4Popliteal pterygium syndrome, Bartsocas-Papas type, 263650 (3);263650;
RIPPLY2?Spondylocostal dysostosis 6, 616566 (3);616566;
RLBP1Bothnia retinal dystrophy, 607475 (3);Fundus albipunctatus, 136880 (3);Newfoundland rod-cone dystrophy, 607476 (3);Retinitis punctata albescens, 136880 (3);607475;136880;607476;136880;
RMRPAnauxetic dysplasia 1, 607095 (3);Cartilage-hair hypoplasia, 250250 (3);Metaphyseal dysplasia without hypotrichosis, 250460 (3);607095;250250;250460;
RNF113A?Trichothiodystrophy 5, nonphotosensitive, 300953 (3);300953;
RNF135Macrocephaly, macrosomia, facial dysmorphism syndrome, 614192 (3);614192;
RNF168RIDDLE syndrome, 611943 (3);611943;
ROM1Retinitis pigmentosa 7, digenic, 608133 (3);608133;
ROR2Brachydactyly, type B1, 113000 (3);Robinow syndrome, autosomal recessive, 268310 (3);113000;268310;
RP1Retinitis pigmentosa 1, 180100 (3);Symmetric circumferential skin creases, congenital, 2, 616734 (3);180100;616734;
RP2Retinitis pigmentosa 2, 312600 (3);312600;
RP9?Retinitis pigmentosa 9, 180104 (3);180104;
RPGRCone-rod dystrophy, X-linked, 1, 304020 (3);Macular degeneration, X-linked atrophic, 300834 (3);Retinitis pigmentosa 3, 300029 (3);Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455 (3);304020;300834;300029;300455;
RPL21Hypotrichosis 12, 615885 (3);615885;
RPL35ADiamond-Blackfan anemia 5, 612528 (3);612528;
RPS19Diamond-Blackfan anemia 1, 105650 (3);105650;
RPS23Brachycephaly, trichomegaly, and developmental delay, 617412 (3);617412;
RPS28Diamond Blackfan anemia 15 with mandibulofacial dysostosis, 606164 (3);606164;
RSPRY1Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, 616723 (3);616723;
RUNX2Cleidocranial dysplasia, 119600 (3);Cleidocranial dysplasia, forme fruste, dental anomalies only, 119600 (3);Cleidocranial dysplasia, forme fruste, with brachydactyly, 119600 (3);Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly, 156510 (3);119600;119600;119600;156510;
RUSC2Mental retardation, autosomal recessive 61, 617773 (3);617773;
SAGOguchi disease-1, 258100 (3);Retinitis pigmentosa 47, 613758 (3);258100;613758;
SALL2?Coloboma, ocular, autosomal recessive, 216820 (3);216820;
SAR1BChylomicron retention disease, 246700 (3);246700;
SAT1?Nephrolithiasis, calcium oxalate, 167030 (3);167030;
SBF1Charcot-Marie-Tooth disease, type 4B3, 615284 (3);615284;
SCARF2Van den Ende-Gupta syndrome, 600920 (3);600920;
SCYL1Spinocerebellar ataxia, autosomal recessive 21, 616719 (3);616719;
SDCCAG8Bardet-Biedl syndrome 16, 615993 (3);Senior-Loken syndrome 7, 613615 (3);615993;613615;
SEC24DCole-Carpenter syndrome 2, 616294 (3);616294;
SELENONMuscular dystrophy, rigid spine, 1, 602771 (3);Myopathy, congenital, with fiber-type disproportion, 255310 (3);602771;255310;
SEMA3E?CHARGE syndrome, 214800 (3);214800;
SEMA4ACone-rod dystrophy 10, 610283 (3);Retinitis pigmentosa 35, 610282 (3);610283;610282;
SF3B4Acrofacial dysostosis 1, Nager type, 154400 (3);154400;
SFXN4Combined oxidative phosphorylation deficiency 18, 615578 (3);615578;
SGCAMuscular dystrophy, limb-girdle, type 2D, 608099 (3);608099;
SGCGMuscular dystrophy, limb-girdle, type 2C, 253700 (3);253700;
SGPL1Nephrotic syndrome 14, 617575 (3);617575;
SH3BP2Cherubism, 118400 (3);118400;
SH3PXD2BFrank-ter Haar syndrome, 249420 (3);249420;
SHOXLanger mesomelic dysplasia, 249700 (3);Leri-Weill dyschondrosteosis, 127300 (3);Short stature, idiopathic familial, 300582 (3);249700;127300;300582;
SIM1Obesity, severe, 601665 (3);601665;
SIX6Optic disc anomalies with retinal and/or macular dystrophy, 212550 (3);212550;
SLC18A2
SLC25A24Fontaine progeroid syndrome, 612289 (3);612289;
SLC25A26Combined oxidative phosphorylation deficiency 28, 616794 (3);616794;
SLC26A2Achondrogenesis Ib, 600972 (3);Atelosteogenesis, type II, 256050 (3);De la Chapelle dysplasia, 256050 (3);Diastrophic dysplasia, 222600 (3);Diastrophic dysplasia, broad bone-platyspondylic variant, 222600 (3);Epiphyseal dysplasia, multiple, 4, 226900 (3);600972;256050;256050;222600;222600;226900;
SLC29A3Histiocytosis-lymphadenopathy plus syndrome, 602782 (3);602782;
SLC2A10Arterial tortuosity syndrome, 208050 (3);208050;
SLC2A2Fanconi-Bickel syndrome, 227810 (3);{Diabetes mellitus, noninsulin-dependent}, 125853 (3);227810;125853;
SLC39A14?Hyperostosis cranalis interna, 144755 (3);Hypermanganesemia with dystonia 2, 617013 (3);144755;617013;
SLC5A2Renal glucosuria, 233100 (3);233100;
SLC5A5Thyroid dyshormonogenesis 1, 274400 (3);274400;
SLC7A14Retinitis pigmentosa 68, 615725 (3);615725;
SLITRK1?Trichotillomania, 613229 (3);Tourette syndrome, 137580 (3);613229;137580;
SLITRK6Deafness and myopia, 221200 (3);221200;
SLX4Fanconi anemia, complementation group P, 613951 (3);613951;
SMN1Spinal muscular atrophy-1, 253300 (3);Spinal muscular atrophy-2, 253550 (3);Spinal muscular atrophy-3, 253400 (3);Spinal muscular atrophy-4, 271150 (3);253300;253550;253400;271150;
SMOBasal cell carcinoma, somatic, 605462 (3);Curry-Jones syndrome, somatic mosaic, 601707 (3);605462;601707;
SNAI2Piebaldism, 172800 (3);Waardenburg syndrome, type 2D, 608890 (3);172800;608890;
SNRNP200Retinitis pigmentosa 33, 610359 (3);610359;
SNRPBCerebrocostomandibular syndrome, 117650 (3);117650;
SOS2Noonan syndrome 9, 616559 (3);616559;
SOSTCraniodiaphyseal dysplasia, autosomal dominant, 122860 (3);Sclerosteosis 1, 269500 (3);Van Buchem disease, 239100 (3);122860;269500;239100;
SOX17Vesicoureteral reflux 3, 613674 (3);613674;
SOX18Hypotrichosis-lymphedema-telangiectasia syndrome, 607823 (3);Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, 137940 (3);607823;137940;
SPART
SPECC1L?Facial clefting, oblique, 1, 600251 (3);Opitz GBBB syndrome, type II, 145410 (3);600251;145410;
SPEGCentronuclear myopathy 5, 615959 (3);615959;
SPTBN4?Myopathy, congenital, with neuropathy and deafness, 617519 (3);617519;
SPTLC1Neuropathy, hereditary sensory and autonomic, type IA, 162400 (3);162400;
SRGAP1{Thyroid cancer, nonmedullary, 2}, 188470 (3);188470;
SRY46XX sex reversal 1, 400045 (3);46XY sex reversal 1, 400044 (3);400045;400044;
STAC3Native American myopathy, 255995 (3);255995;
STAG1Mental retardation, autosomal dominant 47, 617635 (3);617635;
SUFUBasal cell nevus syndrome, 109400 (3);Joubert syndrome 32, 617757 (3);Medulloblastoma, desmoplastic, 155255 (3);{Meningioma, familial, susceptibility to}, 607174 (3);109400;617757;155255;607174;
SYNE2Emery-Dreifuss muscular dystrophy 5, autosomal dominant, 612999 (3);612999;
TAB2Congenital heart defects, nonsyndromic, 2, 614980 (3);614980;
TAC3Hypogonadotropic hypogonadism 10 with or without anosmia, 614839 (3);614839;
TAF13Mental retardation, autosomal recessive 60, 617432 (3);617432;
TAF6Alazami-Yuan syndrome, 617126 (3);617126;
TALDO1Transaldolase deficiency, 606003 (3);606003;
TARS2?Combined oxidative phosphorylation deficiency 21, 615918 (3);615918;
TBC1D23Pontocerebellar hypoplasia, type 11, 617695 (3);617695;
TBX22?Abruzzo-Erickson syndrome, 302905 (3);Cleft palate with ankyloglossia, 303400 (3);302905;303400;
TBX3Ulnar-mammary syndrome, 181450 (3);181450;
TBX4Ischiocoxopodopatellar syndrome, 147891 (3);147891;
TBX5Holt-Oram syndrome, 142900 (3);142900;
TCF12Craniosynostosis 3, 615314 (3);615314;
TCN2Transcobalamin II deficiency, 275350 (3);275350;
TCOF1Treacher Collins syndrome 1, 154500 (3);154500;
TDO2[?Hypertryptophanemia], 600627 (3);600627;
TENM3Microphthalmia, isolated, with coloboma 9, 615145 (3);615145;
TERCDyskeratosis congenita, autosomal dominant 1, 127550 (3);{Aplastic anemia}, 614743 (3);{Pulmonary fibrosis, idiopathic, susceptibility to}, 614743 (3);127550;614743;614743;
TERT{Dyskeratosis congenita, autosomal dominant 2}, 613989 (3);{Dyskeratosis congenita, autosomal recessive 4}, 613989 (3);{Leukemia, acute myeloid}, 601626 (3);{Melanoma, cutaneous malignant, 9}, 615134 (3);{Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1}, 614742 (3);613989;613989;601626;615134;614742;
TFAP2BChar syndrome, 169100 (3);Patent ductus arteriosus 2, 617035 (3);169100;617035;
TFG?Spastic paraplegia 57, autosomal recessive, 615658 (3);Hereditary motor and sensory neuropathy, Okinawa type, 604484 (3);615658;604484;
TGThyroid dyshormonogenesis 3, 274700 (3);{Autoimmune thyroid disease, susceptibility to, 3}, 608175 (3);274700;608175;
TGM6Spinocerebellar ataxia 35, 613908 (3);613908;
THRAHypothyroidism, congenital, nongoitrous, 6, 614450 (3);614450;
TIMM503-methylglutaconic aciduria, type IX, 617698 (3);617698;
TKTShort stature, developmental delay, and congenital heart defects, 617044 (3);Spondylometaepiphyseal dysplasia, short limb-hand type, 271665 (3);617044;271665;
TM4SF20{Specific language impairment 5}, 615432 (3);615432;
TMEM107?Joubert syndrome 29, 617562 (3);Meckel syndrome 13, 617562 (3);Orofaciodigital syndrome XVI, 617563 (3);617562;617562;617563;
TMEM199Congenital disorder of glycosylation, type IIp, 616829 (3);616829;
TMEM43Arrhythmogenic right ventricular dysplasia 5, 604400 (3);Emery-Dreifuss muscular dystrophy 7, AD, 614302 (3);604400;614302;
TMEM87B
TNFRSF11AOsteolysis, familial expansile, 174810 (3);Osteopetrosis, autosomal recessive 7, 612301 (3);{Paget disease of bone 2, early-onset}, 602080 (3);174810;612301;602080;
TNFSF11Osteopetrosis, autosomal recessive 2, 259710 (3);259710;
TNNT1Nemaline myopathy 5, Amish type, 605355 (3);605355;
TOPORSRetinitis pigmentosa 31, 609923 (3);609923;
TP63ADULT syndrome, 103285 (3);Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, 604292 (3);Hay-Wells syndrome, 106260 (3);Limb-mammary syndrome, 603543 (3);Orofacial cleft 8, 129400 (3);Rapp-Hodgkin syndrome, 129400 (3);Split-hand/foot malformation 4, 605289 (3);103285;604292;106260;603543;129400;129400;605289;
TPH2[?Hypertryptophanemia], 600627 (3);{Attention deficit-hyperactivity disorder, susceptibility to, 7}, 613003 (3);{Unipolar depression, susceptibility to}, 608516 (3);600627;613003;608516;
TPI1Hemolytic anemia due to triosephosphate isomerase deficiency, 615512 (3);615512;
TPM2Arthrogryposis multiplex congenita, distal, type 1, 108120 (3);Arthrogryposis, distal, type 2B, 601680 (3);CAP myopathy 2, 609285 (3);Nemaline myopathy 4, autosomal dominant, 609285 (3);108120;601680;609285;609285;
TPM3CAP myopathy 1, 609284 (3);Myopathy, congenital, with fiber-type disproportion, 255310 (3);Nemaline myopathy 1, autosomal dominant or recessive, 609284 (3);609284;255310;609284;
TPOThrombocythemia 1, 187950 (3);Thyroid dyshormonogenesis 2A, 274500 (3);187950;274500;
TRAF3IP1Senior-Loken syndrome 9, 616629 (3);616629;
TRAIPSeckel syndrome 9, 616777 (3);616777;
TRAPPC12Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, 617669 (3);617669;
TRHThyrotropin-releasing hormone deficiency, 275120 (1);275120;
TRIM37Mulibrey nanism, 253250 (3);253250;
TRIP12Mental retardation, autosomal dominant 49, 617752 (3);617752;
TRIP4?Muscular dystrophy, congenital, Davignon-Chauveau type, 617066 (3);Spinal muscular atrophy with congenital bone fractures 1, 616866 (3);617066;616866;
TRIT1Combined oxidative phosphorylation deficiency 35, 617873 (3);617873;
TRMT5Combined oxidative phosphorylation deficiency 26, 616539 (3);616539;
TRPS1Trichorhinophalangeal syndrome, type I, 190350 (3);Trichorhinophalangeal syndrome, type III, 190351 (3);190350;190351;
TRPV4?Avascular necrosis of femoral head, primary, 2, 617383 (3);Brachyolmia type 3, 113500 (3);Digital arthropathy-brachydactyly, familial, 606835 (3);Hereditary motor and sensory neuropathy, type IIc, 606071 (3);Metatropic dysplasia, 156530 (3);Parastremmatic dwarfism, 168400 (3);SED, Maroteaux type, 184095 (3);Scapuloperoneal spinal muscular atrophy, 181405 (3);Spinal muscular atrophy, distal, congenital nonprogressive, 600175 (3);Spondylometaphyseal dysplasia, Kozlowski type, 184252 (3);[Sodium serum level QTL 1], 613508 (3);617383;113500;606835;606071;156530;168400;184095;181405;600175;184252;613508;
TSHBHypothyroidism, congenital, nongoitrous 4, 275100 (3);275100;
TSHRHyperthyroidism, familial gestational, 603373 (3);Hyperthyroidism, nonautoimmune, 609152 (3);Hypothyroidism, congenital, nongoitrous, 1 275200 (3);Thyroid adenoma, hyperfunctioning, somatic (3);Thyroid carcinoma with thyrotoxicosis (3);603373;609152;275200;
TTNCardiomyopathy, dilated, 1G, 604145 (3);Cardiomyopathy, familial hypertrophic, 9, 613765 (3);Muscular dystrophy, limb-girdle, type 2J, 608807 (3);Myopathy, proximal, with early respiratory muscle involvement, 603689 (3);Salih myopathy, 611705 (3);Tibial muscular dystrophy, tardive, 600334 (3);604145;613765;608807;603689;611705;600334;
TUB?Retinal dystrophy and obesity, 616188 (3);616188;
TWIST2Ablepharon-macrostomia syndrome, 200110 (3);Barber-Say syndrome, 209885 (3);Focal facial dermal dysplasia 3, Setleis type, 227260 (3);200110;209885;227260;
TXNRD2?Glucocorticoid deficiency 5, 617825 (3);617825;
TYMPMitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 (3);603041;
TYRAlbinism, oculocutaneous, type IA, 203100 (3);Albinism, oculocutaneous, type IB, 606952 (3);Waardenburg syndrome/albinism, digenic, 103470 (3);[Skin/hair/eye pigmentation 3, blue/green eyes], 601800 (3);[Skin/hair/eye pigmentation 3, light/dark/freckling skin], 601800 (3);{Melanoma, cutaneous malignant, susceptibility to, 8}, 601800 (3);203100;606952;103470;601800;601800;601800;
UBE2TFanconi anemia, complementation group T, 616435 (3);616435;
UBIAD1Corneal dystrophy, Schnyder type, 121800 (3);121800;
UBTFNeurodegeneration, childhood-onset, with brain atrophy, 617672 (3);617672;
UFM1Leukodystrophy, hypomyelinating, 14, 617899 (3);617899;
UMPSOrotic aciduria, 258900 (3);258900;
USB1Poikiloderma with neutropenia, 604173 (3);604173;
USH1CDeafness, autosomal recessive 18A, 602092 (3);Usher syndrome, type 1C, 276904 (3);602092;276904;
USH1GUsher syndrome, type 1G, 606943 (3);606943;
USH2ARetinitis pigmentosa 39, 613809 (3);Usher syndrome, type 2A, 276901 (3);613809;276901;
USP27XMental retardation, X-linked 105, 300984 (3);300984;
VAC14Striatonigral degeneration, childhood-onset, 617054 (3);617054;
VAX1?Microphthalmia, syndromic 11, 614402 (3);614402;
VIPAS39Arthrogryposis, renal dysfunction, and cholestasis 2, 613404 (3);613404;
VMA21Myopathy, X-linked, with excessive autophagy, 310440 (3);310440;
VPS33AMucopolysaccharidosis-plus syndrome, 617303 (3);617303;
VPS33BArthrogryposis, renal dysfunction, and cholestasis 1, 208085 (3);208085;
VPS35{Parkinson disease 17}, 614203 (3);614203;
VPS45Neutropenia, severe congenital, 5, autosomal recessive, 615285 (3);615285;
VSIG4
VWA3B?Spinocerebellar ataxia, autosomal recessive 22, 616948 (3);616948;
WASHC5
WDFY3?Microcephaly 18, primary, autosomal dominant, 617520 (3);617520;
WDPCP?Bardet-Biedl syndrome 15, 615992 (3);?Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085 (3);615992;217085;
WDR26Skraban-Deardorff syndrome, 617616 (3);617616;
WDR35Cranioectodermal dysplasia 2, 613610 (3);Short-rib thoracic dysplasia 7 with or without polydactyly, 614091 (3);613610;614091;
WDR45BNeurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977 (3);617977;
WNT1Osteogenesis imperfecta, type XV, 615220 (3);{Osteoporosis, early-onset, susceptibility to, autosomal dominant}, 615221 (3);615220;615221;
WNT10BSplit-hand/foot malformation 6, 225300 (3);Tooth agenesis, selective, 8, 617073 (3);225300;617073;
WNT5ARobinow syndrome, autosomal dominant 1, 180700 (3);180700;
WRAP53Dyskeratosis congenita, autosomal recessive 3, 613988 (3);613988;
WT1Denys-Drash syndrome, 194080 (3);Frasier syndrome, 136680 (3);Meacham syndrome, 608978 (3);Mesothelioma, somatic, 156240 (3);Nephrotic syndrome, type 4, 256370 (3);Wilms tumor, type 1, 194070 (3);194080;136680;608978;156240;256370;194070;
XBP1{Major affective disorder-7, susceptibility to}, 612371 (3);612371;
XISTX-inactivation, familial skewed, 300087 (3);300087;
XRCC2?Fanconi anemia, complementation group U, 617247 (3);617247;
XRCC4Short stature, microcephaly, and endocrine dysfunction, 616541 (3);616541;
XYLT2Spondyloocular syndrome, 605822 (3);{Pseudoxanthoma elasticum, modifier of severity of}, 264800 (3);605822;264800;
YARS2Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 (3);613561;
YME1L1?Optic atrophy 11, 617302 (3);617302;
YY1Gabriele-de Vries syndrome, 617557 (3);617557;
YY1AP1Grange syndrome, 602531 (3);602531;
ZMPSTE24Mandibuloacral dysplasia with type B lipodystrophy, 608612 (3);Restrictive dermopathy, lethal, 275210 (3);608612;275210;
ZMYM3
ZNF148Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies, 617260 (3);617260;
ZNF335?Microcephaly 10, primary, autosomal recessive, 615095 (3);615095;
ZNF407
ZNF408?Exudative vitreoretinopathy 6, 616468 (3);Retinitis pigmentosa 72, 616469 (3);616468;616469;
ZNF513?Retinitis pigmentosa 58, 613617 (3);613617;

Una anàlisi per a cada metge especialista i, al mateix temps, per a tots!

Descarrega el consentiment informat AQUÍ

El test pot demanar-se des de la Plataforma de Comandes, o bé descarregant el Full de Sol·licitud.

Accedeix a la plataforma de comandes Comanda sense plataforma
Com demano un test?
1) Emplenar la sol·licitud del test.

Necessitem la informació del metge sol·licitant, les dades del pacient (especialment l’identificador de la mostra, la data de naixement i el sexe), i per descomptat seleccionar el test que se sol·licita.

La resta de camps també són importants, així que si disposes de la informació, ens serà de gran utilitat.

2) Imprimir el full de sol·licitud.

Una vegada emplenat a l’ordinador, s’ha d’imprimir i signar per part del metge sol·licitant.

3) Obtenir la mostra biològica.

És important recordar que les mostres han d’anar identificades amb el mateix identificador o nom indicat al Full de Sol·licitud.

4) Preparar la mostra de manera adequada per al seu enviament.

Embalar la mostra biològica de manera adequada i adjuntar el Full de Sol·licitud.

No oblidi incloure una còpia del document de consentiment informat, signat pel pacient o els seus representants legals.

5) Enviar la mostra al laboratori o demanar-ne la recollida trucant al 932 301 270

L’adreça d’enviament és:

Quantitative Genomic Medicine Laboratories (qGenomics)
c/Joan XXIII, 10
08950 – Esplugues del Llobregat

Requisits de les mostres biològiques
  • DNA: >5ug, a una concentració mínima de 50ng/uL, i de bona qualitat (ratio 260/280 >1.8).
  • Sang en EDTA: 1 tub de 3-5mL (nens, mínim 1mL de sang).
  • Sang en paper: un mínim de 10 spots en targeta Guthrie o paper de filtre.
  • Alternativament es pot demanar a qGenomics un kit de recollida de saliva o de cèl·lules bucals.
Preparació per a l'enviament

Les mostres biològiques com la sang, la saliva o altres fluïds corporals són considerades mostres biològiques de categoria B, mentre que l’ADN es pot considerar un “Especimen humà exent”. Pots llegir aquí com han d’anar acondicionades.

La sang recollida en un tub d’EDTA, l’ADN, la saliva recollida en els contenidors especials que proporcionem, i la sang en paper, són estables a temperatura ambient durant 3 o 4 dies. Les mostres poden enviar-se, convenientment protegides, per correu ordinari o missatger.

Truca’ns al 932 301 270 quan ho tinguis tot preparat i passarem a recollir les teves mostres.