Dentro de los servicios qGenEx, los paneles de exoma dirigido permiten restringir el estudio a un grupo de genes concreto según especialidad.
qGenEx EP analiza 992 genes asociados a epilepsia usando secuenciación de exoma completo mediante NGS.
Utiliza el buscador para encontrar el grupo de genes relacionados con la patología que te interesa incluidos en el panel:
Gen | Disease | OMIM ID |
---|---|---|
ABCC8 | Diabetes mellitus, noninsulin-dependent; Diabetes mellitus, permanent neonatal; Diabetes mellitus, transient neonatal 2 ; Hyperinsulinemic hypoglycemia, familial, 1 ; Hypoglycemia of infancy, leucine-sensitive | 125853; 606176; 610374; 256450; 240800 |
ALDH7A1 | Epilepsy, pyridoxine-dependent | 266100 |
AMACR | Alpha-methylacyl-CoA racemase deficiency; Bile acid synthesis defect, congenital, 4 | 614307; 214950 |
APOPT1 | Mitochondrial complex IV deficiency | 220110 |
ASAH1 | Farber lipogranulomatosis; Spinal muscular atrophy with progressive myoclonic epilepsy | 228000; 159950 |
ATP1A3 | Alternating hemiplegia of childhood 2 ; CAPOS syndrome; Dystonia-12 | 614820; 601338; 128235 |
BOLA3 | Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia | 614299 |
CACNA1A | Episodic ataxia, type 2 ; Migraine, familial hemiplegic, 1 ; Migraine, familial hemiplegic, 1 with progressive cerebellar ataxia; Spinocerebellar ataxia 6 | 108500; 141500; 183086 |
CACNA1E | ?Epileptic encephalopathy with infantile spasms (Helbig -2016 Genet Med Epub,Epub); ?Autism (O'Roak -2012 Nature 485,246) | NoOMIMPhenotype |
CACNA2D2 | Epileptic encephalopathy (Pippucci -2013 PLoS One 8,e82154); ?Schizophrenia (Purcell -2014 Nature 506 185) | NoOMIMPhenotype |
CHRNA2 | Epilepsy, nocturnal frontal lobe, type 4 | 610353 |
CHRNA4 | Epilepsy, nocturnal frontal lobe, 1 ; {Nicotine addiction, susceptibility to} | 600513; 188890 |
CHRNB2 | Epilepsy, nocturnal frontal lobe, 3 | 605375 |
CLDN16 | Hypomagnesemia 3 renal | 248250 |
CLDN19 | Hypomagnesemia 5 renal, with ocular involvement | 248190 |
CNTN2 | ?Epilepsy, myoclonic, familial adult, 5 | 615400 |
CPA6 | Epilepsy, familial temporal lobe, 5 ; Febrile seizures, familial, 11 | 614417; 614418 |
CPT2 | CPT deficiency, hepatic, type II; CPT II deficiency, lethal neonatal; Myopathy due to CPT II deficiency; {Encephalopathy, acute, infection-induced, 4 susceptibility to} | 600649; 608836; 255110; 614212 |
CSTB | Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) | 254800 |
CTSF | Ceroid lipofuscinosis, neuronal, 13 Kufs type | 615362 |
DEPDC5 | Epilepsy, familial focal, with variable foci | 604364 |
DLAT | Pyruvate dehydrogenase E2 deficiency | 245348 |
DNAJC5 | Ceroid lipofuscinosis, neuronal, 4 Parry type | 162350 |
DPM2 | Congenital disorder of glycosylation, type Iu | 615042 |
EGF | Hypomagnesemia 4 renal | 611718 |
EPM2A | Epilepsy, progressive myoclonic 2A (Lafora) | 254780 |
FA2H | Spastic paraplegia 35 autosomal recessive | 612319 |
FARS2 | Combined oxidative phosphorylation deficiency 14 ; ?Spastic paraplegia 77 autosomal recessive | 614946; 617046 |
FASN | Intellectual disability (Najmabadi -2011 Nature 478 57); ?Epileptic encephalopathy (Appenzeller -2014 Am J Hum Genet 95 360); ?Lennox-Gastaut syndrome (Appenzeller -2014 Am J Hum Genet 95,360) | NoOMIMPhenotype |
FOLR1 | Neurodegeneration due to cerebral folate transport deficiency | 613068 |
FOXRED1 | Leigh syndrome due to mitochondrial complex I deficiency; Mitochondrial complex I deficiency | 256000; 252010 |
FXYD2 | Hypomagnesemia 2 renal | 154020 |
GABRB3 | {Epilepsy, childhood absence, susceptibility to, 5} | 612269 |
GABRG2 | Epilepsy, generalized, with febrile seizures plus, type 3 ; Febrile seizures, familial, 8 ; {Epilepsy, childhood absence, susceptibility to, 2} | 611277; 607681 |
GCK | Diabetes mellitus, noninsulin-dependent, late onset; Diabetes mellitus, permanent neonatal; Hyperinsulinemic hypoglycemia, familial, 3 ; MODY, type II | 125853; 606176; 602485; 125851 |
GLRA1 | Hyperekplexia, hereditary 1 autosomal dominant or recessive | 149400 |
GLRB | Hyperekplexia 2 autosomal recessive | 614619 |
GLUD1 | Hyperinsulinism-hyperammonemia syndrome | 606762 |
GOSR2 | Epilepsy, progressive myoclonic 6 | 614018 |
GRN | Aphasia, primary progressive; Ceroid lipofuscinosis, neuronal, 11 ; Frontotemporal lobar degeneration with ubiquitin-positive inclusions | 607485; 614706 |
HADH | 3-hydroxyacyl-CoA dehydrogenase deficiency; Hyperinsulinemic hypoglycemia, familial, 4 | 231530; 609975 |
HNRNPU | Lennox-Gastaut syndrome (Allen -2013 Nature 501,217) ; Fever-associated epilepsy (Hartmann -2015 Epilepsia 56,e26) ; Infantile spasms (Du -2014 BMC Med Genet 15,62) ; Speech delay,seizures and CNS anomalies (Caliebe -2010 Eur J Med Genet 53,179) ; ?Seizures (Ballif -2012 Hum Genet 131,145) ; Epileptic encephalopathy (Mefford -2011 Ann Neurol 70,974); Preaxial polydactyly (Gupta -2014 Am J Med Genet A 164A,186); Intellectual disability & seizures (Thierry -2012 Am J Med Genet A 158A,1633) ; Thin corpus callosum,psychomotor delay & seizures (Selmer -2012 Eur J Med Genet 55,715) ; ?Developmental delay and intellectual disability (King -2014 Genome Res 24,673); ?Intellectual disability (Hamdan -2014 PLoS Genet 10,e 1004772); ?Intellectual disability,epilepsy,panhypopituitarism,hypertension & other anomalies (Zhu -2015 Genet Med) | NoOMIMPhenotype |
HSD17B4 | D-bifunctional protein deficiency; Perrault syndrome 1 | 261515; 233400 |
IDH2 | D-2-hydroxyglutaric aciduria 2 | 613657 |
KCNA1 | Episodic ataxia/myokymia syndrome | 160120 |
KCNC1 | Epilepsy, progressive myoclonic 7 | 616187 |
KCNMA1 | Generalized epilepsy and paroxysmal dyskinesia | 609446 |
KCNQ3 | Seizures, benign neonatal, type 2 | 121201 |
LGI1 | Epilepsy, familial temporal lobe, 1 | 600512 |
MFSD8 | Ceroid lipofuscinosis, neuronal, 7 ; Macular dystrophy with central cone involvement | 610951; 616170 |
NDUFAF1 | Mitochondrial complex I deficiency | 252010 |
NDUFAF2 | Leigh syndrome; Mitochondrial complex I deficiency | 256000; 252010 |
NDUFAF3 | Mitochondrial complex I deficiency | 252010 |
NDUFAF4 | Mitochondrial complex I deficiency | 252010 |
NDUFB3 | Mitochondrial complex I deficiency | 252010 |
NDUFB9 | ?Mitochondrial complex I deficiency | 252010 |
NDUFS6 | Mitochondrial complex I deficiency | 252010 |
NDUFV2 | Mitochondrial complex I deficiency | 252010 |
NGLY1 | Congenital disorder of deglycosylation | 615273 |
NHLRC1 | Epilepsy, progressive myoclonic 2B (Lafora) | 254780 |
NUBPL | Mitochondrial complex I deficiency | 252010 |
PDHB | Pyruvate dehydrogenase E1-beta deficiency | 614111 |
PDP1 | Pyruvate dehydrogenase phosphatase deficiency | 608782 |
PDX1 | MODY, type IV; Pancreatic agenesis 1 ; {Diabetes mellitus, type II, susceptibility to} | 606392; 260370; 125853 |
PEX14 | Peroxisome biogenesis disorder 13A (Zellweger) | 614887 |
PNPO | Pyridoxamine 5'-phosphate oxidase deficiency | 610090 |
PRICKLE1 | Epilepsy, progressive myoclonic 1B | 612437 |
PRICKLE2 | ?Autism spectrum disorder (Sowers -2013 Mol Psychiatry 18 1077) ; ?Myoclonus epilepsy (Tao -2011 Am J Hum Genet 88,138) | NoOMIMPhenotype |
PRRT2 | Convulsions, familial infantile, with paroxysmal choreoathetosis; Episodic kinesigenic dyskinesia 1 ; Seizures, benign familial infantile, 2 | 602066; 128200; 605751 |
RRM2B | Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy); Mitochondrial DNA depletion syndrome 8B (MNGIE type); Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 | 612075; 613077 |
SAMHD1 | Aicardi-Goutieres syndrome 5 ; ?Chilblain lupus 2 | 612952; 614415 |
SCARB2 | Epilepsy, progressive myoclonic 4 with or without renal failure | 254900 |
SCN1B | Atrial fibrillation, familial, 13 ; Brugada syndrome 5 ; Cardiac conduction defect, nonspecific; Epilepsy, generalized, with febrile seizures plus, type 1 | 615377; 612838; 604233 |
SLC16A1 | Erythrocyte lactate transporter defect; Hyperinsulinemic hypoglycemia, familial, 7 ; Monocarboxylate transporter 1 deficiency | 245340; 610021; 616095 |
SLC25A1 | Combined D-2- and L-2-hydroxyglutaric aciduria | 615182 |
SLC6A1 | Myoclonic-atonic epilepsy | 616421 |
TDP2 | Spinocerebellar ataxia, autosomal recessive | 616949 |
TRPM6 | Hypomagnesemia 1 intestinal | 602014 |
TUBB2A | Cortical dysplasia, complex, with other brain malformations 5 | 615763 |
ABCA5 | Hypertrichosis, congenital generalized, with gingival hyperplasia | 135400 |
ABCB1 | {Colchicine resistance}, 120080 (3);{Inflammatory bowel disease 13}, 612244 (3); | 120080;612244; |
ABHD12 | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, 612674 (3); | 612674; |
ACP2 | ?Lysosomal acid phosphatase deficiency, 200950 (1); | 200950; |
ACVRL1 | Telangiectasia, hereditary hemorrhagic, type 2, 600376 (3); | 600376; |
ADA2 | ||
ADGRV1 | ?Febrile seizures, familial, 4, 604352 (3);Usher syndrome, type 2C, 605472 (3);Usher syndrome, type 2C, GPR98/PDZD7 digenic, 605472 (3); | 604352;605472;605472; |
AIP | Pituitary adenoma 1, multiple types, 102200 (3);Pituitary adenoma predisposition, 102000 (3); | 102200;102000; |
AKT2 | Diabetes mellitus, type II, 125853 (3);Hypoinsulinemic hypoglycemia with hemihypertrophy, 240900 (3); | 125853;240900; |
ALAD | Porphyria, acute hepatic, 612740 (3);{Lead poisoning, susceptibility to}, 612740 (3); | 612740;612740; |
ALPL | Hypophosphatasia, adult, 146300 (3);Hypophosphatasia, childhood, 241510 (3);Hypophosphatasia, infantile, 241500 (3);Odontohypophosphatasia, 146300 (3); | 146300;241510;241500;146300; |
ANOS1 | ||
AP3D1 | ?Hermansky-Pudlak syndrome 10, 617050 (3); | 617050; |
APOE | Alzheimer disease-2, 104310 (3);Hyperlipoproteinemia, type III, 617347 (3);Lipoprotein glomerulopathy, 611771 (3);Sea-blue histiocyte disease, 269600 (3);{?Macular degeneration, age-related}, 603075 (3);{Coronary artery disease, severe, susceptibility to}, 617347 (3); | 104310;617347;611771;269600;603075;617347; |
AQP4 | ||
ARHGEF15 | ||
ATP5A1 | ?Combined oxidative phosphorylation deficiency 22, 616045 (3);?Mitochondrial complex (ATP synthase) deficiency, nuclear type 4, 615228 (3); | 616045;615228; |
ATXN10 | Spinocerebellar ataxia 10, 603516 (3); | 603516; |
B4GAT1 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, 615287 (3); | 615287; |
B9D2 | ?Meckel syndrome 10, 614175 (3);Joubert syndrome 34, 614175 (3); | 614175;614175; |
BANK1 | ||
BCL10 | ?Immunodeficiency 37, 616098 (3);Lymphoma, MALT, somatic, 137245 (3);{Lymphoma, follicular, somatic}, 605027 (3);{Male germ cell tumor, somatic}, 273300, (3);{Mesothelioma, somatic}, 156240 (3);{Sezary syndrome, somatic}, (3); | 616098;137245;605027;273300,;156240; |
BLOC1S6 | ?Hermansky-pudlak syndrome 9, 614171 (3); | 614171; |
BRD2 | ||
C4A | C4a deficiency, 614380 (3);[Blood group, Rodgers], 614374 (3); | 614380;614374; |
CACNA1G | Spinocerebellar ataxia 42, 616795 (3); | 616795; |
CACNA1H | Hyperaldosteronism, familial, type IV, 617027 (3);{Epilepsy, childhood absence, susceptibility to, 6}, 611942 (3);{Epilepsy, idiopathic generalized, susceptibility to, 6}, 611942 (3); | 617027;611942;611942; |
CALM1 | Long QT syndrome 14, 616247 (3);Ventricular tachycardia, catecholaminergic polymorphic, 4, 614916 (3); | 616247;614916; |
CALM2 | Long QT syndrome 15, 616249 (3); | 616249; |
CARD9 | Candidiasis, familial, 2, autosomal recessive, 212050 (3); | 212050; |
CASQ2 | Ventricular tachycardia, catecholaminergic polymorphic, 2, 611938 (3); | 611938; |
CASR | Hypercalciuric hypercalcemia (3);Hyperparathyroidism, neonatal, 239200 (3);Hypocalcemia, autosomal dominant, 601198 (3);Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198 (3);Hypocalciuric hypercalcemia, type I, 145980 (3);{Calcium, serum level of} (3);{Epilepsy idiopathic generalized, susceptibility to, 8}, 612899 (3); | 239200;601198;601198;145980;612899; |
CCM2 | Cerebral cavernous malformations-2, 603284 (3); | 603284; |
CCNQ | ||
CD2AP | Glomerulosclerosis, focal segmental, 3, 607832 (3); | 607832; |
CD40LG | Immunodeficiency, X-linked, with hyper-IgM, 308230 (3); | 308230; |
CD46 | {Hemolytic uremic syndrome, atypical, susceptibility to, 2}, 612922 (3); | 612922; |
CD59 | Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy, 612300 (3); | 612300; |
CFH | Basal laminar drusen, 126700 (3);Complement factor H deficiency, 609814 (3);{Hemolytic uremic syndrome, atypical, susceptibility to, 1}, 235400 (3);{Macular degeneration, age-related, 4}, 610698 (3); | 126700;609814;235400;610698; |
CFHR1 | {Hemolytic uremic syndrome, atypical, susceptibility to}, 235400 (3);{Macular degeneration, age-related, reduced risk of}, 603075 (3); | 235400;603075; |
CFHR3 | {Hemolytic uremic syndrome, atypical, susceptibility to}, 235400 (3);{Macular degeneration, age-related, reduced risk of}, 603075 (3); | 235400;603075; |
CHMP2B | Amyotrophic lateral sclerosis 17, 614696 (3);Dementia, familial, nonspecific, 600795 (3); | 614696;600795; |
CHRNA3 | {Lung cancer susceptibility 2}, 612052 (3); | 612052; |
CLCF1 | Cold-induced sweating syndrome 2, 610313 (3); | 610313; |
CLCN1 | Myotonia congenita, dominant, 160800 (3);Myotonia congenita, recessive, 255700 (3);Myotonia levior, recessive (3); | 160800;255700; |
CLEC7A | Candidiasis, familial, 4, autosomal recessive, 613108 (3);{Aspergillosis, susceptibility to}, 614079 (3); | 613108;614079; |
CLPP | Perrault syndrome 3, 614129 (3); | 614129; |
CNR1 | ||
COQ5 | ||
COQ6 | Coenzyme Q10 deficiency, primary, 6, 614650 (3); | 614650; |
CPOX | Coproporphyria, 121300 (3);Harderoporphyria, 121300 (3); | 121300;121300; |
CPT1A | CPT deficiency, hepatic, type IA, 255120 (3); | 255120; |
CPT1C | ?Spastic paraplegia 73, autosomal dominant, 616282 (3); | 616282; |
CRB2 | Focal segmental glomerulosclerosis 9, 616220 (3);Ventriculomegaly with cystic kidney disease, 219730 (3); | 616220;219730; |
CRH | ||
CRYAB | Cardiomyopathy, dilated, 1II, 615184 (3);Cataract 16, multiple types, 613763 (3);Myopathy, myofibrillar, 2, 608810 (3);Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, 613869 (3); | 615184;613763;608810;613869; |
CSF1R | Leukoencephalopathy, diffuse hereditary, with spheroids, 221820 (3); | 221820; |
CST3 | Cerebral amyloid angiopathy, 105150 (3);{Macular degeneration, age-related, 11}, 611953 (3); | 105150;611953; |
CTLA4 | Autoimmune lymphoproliferative syndrome, type V, 616100 (3);{Celiac disease, susceptibility to, 3}, 609755 (3);{Diabetes mellitus, insulin-dependent, 12}, 601388 (3);{Hashimoto thyroiditis}, 140300 (3);{Systemic lupus erythematosus, susceptibility to}, 152700 (3); | 616100;609755;601388;140300;152700; |
CYP26C1 | Focal facial dermal dysplasia 4, 614974 (3); | 614974; |
CYP27B1 | Vitamin D-dependent rickets, type I, 264700 (3); | 264700; |
DBH | Dopamine beta-hydroxylase deficiency, 223360 (3);[Dopamine-beta-hydroxylase activity levels, plasma] (3); | 223360; |
DGUOK | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880 (3);Portal hypertension, noncirrhotic, 617068 (3);Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, 617070 (3); | 251880;617068;617070; |
DMP1 | Hypophosphatemic rickets, AR, 241520 (3); | 241520; |
DNASE1 | {Systemic lupus erythematosus, susceptibility to}, 152700 (3); | 152700; |
DNASE1L3 | Systemic lupus erythematosus 16, 614420 (3); | 614420; |
DNMT1 | Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121 (3);Neuropathy, hereditary sensory, type IE, 614116 (3); | 604121;614116; |
DUSP6 | Hypogonadotropic hypogonadism 19 with or without anosmia, 615269 (3); | 615269; |
EDNRA | Mandibulofacial dysostosis with alopecia, 616367 (3);{Migraine, resistance to}, 157300 (3); | 616367;157300; |
EEF2 | ?Spinocerebellar ataxia 26, 609306 (3); | 609306; |
EFHC2 | ||
ELP1 | ||
ENG | Telangiectasia, hereditary hemorrhagic, type 1, 187300 (3); | 187300; |
ENPP1 | Arterial calcification, generalized, of infancy, 1, 208000 (3);Cole disease, 615522 (3);Hypophosphatemic rickets, autosomal recessive, 2, 613312 (3);{Diabetes mellitus, non-insulin-dependent, susceptibility to}, 125853 (3);{Obesity, susceptibility to}, 601665 (3); | 208000;615522;613312;125853;601665; |
EPCAM | Colorectal cancer, hereditary nonpolyposis, type 8, 613244 (3);Diarrhea 5, with tufting enteropathy, congenital, 613217 (3); | 613244;613217; |
EPHX1 | ?Hypercholanemia, familial, 607748 (3); | 607748; |
ESR1 | Estrogen resistance, 615363 (3);{Atherosclerosis, susceptibility to} (3);{Breast cancer}, 114480 (1);{HDL response to hormone replacement, augmented} (3);{Migraine, susceptibility to}, 157300 (3);{Myocardial infarction, susceptibility to}, 608446 (3); | 615363;114480;157300;608446; |
ETFA | Glutaric acidemia IIA, 231680 (3); | 231680; |
ETFDH | Glutaric acidemia IIC, 231680 (3); | 231680; |
F2 | Dysprothrombinemia, 613679 (3);Hypoprothrombinemia, 613679 (3);Thrombophilia due to thrombin defect, 188050 (3);{Pregnancy loss, recurrent, susceptibility to, 2}, 614390 (3);{Stroke, ischemic, susceptibility to}, 601367 (3); | 613679;613679;188050;614390;601367; |
FADD | Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations, 613759 (3); | 613759; |
FAN1 | Interstitial nephritis, karyomegalic, 614817 (3); | 614817; |
FAS | Autoimmune lymphoproliferative syndrome, type IA, 601859 (3);Squamous cell carcinoma, burn scar-related, somatic (3);{Autoimmune lymphoproliferative syndrome}, 601859 (3); | 601859;601859; |
FBP1 | Fructose-1,6-bisphosphatase deficiency, 229700 (3); | 229700; |
FCGR2A | {Lupus nephritis, susceptibility to}, 152700 (3);{Malaria, severe, susceptibility to}, 611162 (3);{Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis}, 219700 (3); | 152700;611162;219700; |
FCGR2B | {Malaria, resistance to}, 611162 (3);{Systemic lupus erythematosus, susceptibility to}, 152700 (3); | 611162;152700; |
FEZF1 | Hypogonadotropic hypogonadism 22, with or without anosmia, 616030 (3); | 616030; |
FGF17 | Hypogonadotropic hypogonadism 20 with or without anosmia, 615270 (3); | 615270; |
FLRT3 | Hypogonadotropic hypogonadism 21 with anosmia, 615271 (3); | 615271; |
FOXP3 | Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790 (3);{Diabetes mellitus, type I, susceptibility to}, 222100 (3); | 304790;222100; |
FXN | Friedreich ataxia with retained reflexes, 229300 (3);Friedreich ataxia, 229300 (3); | 229300;229300; |
GAD2 | ||
GAL | ?Epilepsy, familial temporal lobe, 8, 616461 (3); | 616461; |
GALC | Krabbe disease, 245200 (3); | 245200; |
GAS1 | ||
GDF2 | Telangiectasia, hereditary hemorrhagic, type 5, 615506 (3); | 615506; |
GFM2 | ||
GIPC3 | Deafness, autosomal recessive 15, 601869 (3); | 601869; |
GLA | Fabry disease, 301500 (3);Fabry disease, cardiac variant, 301500 (3); | 301500;301500; |
GLRX5 | Anemia, sideroblastic, 3, pyridoxine-refractory, 616860 (3);Spasticity, childhood-onset, with hyperglycinemia, 616859 (3); | 616860;616859; |
GNA11 | Hypocalcemia, autosomal dominant 2, 615361 (3);Hypocalciuric hypercalcemia, type II, 145981 (3); | 615361;145981; |
GPX4 | Spondylometaphyseal dysplasia, Sedaghatian type, 250220 (3); | 250220; |
GSN | Amyloidosis, Finnish type, 105120 (3); | 105120; |
GUCY1A3 | Moyamoya 6 with achalasia, 615750 (3); | 615750; |
GYS1 | Glycogen storage disease 0, muscle, 611556 (3); | 611556; |
HLA-B | {Abacavir hypersensitivity, susceptibility to} (3);{Drug-induced liver injury due to flucloxacillin} (3);{Spondyloarthropathy, susceptibility to, 1}, 106300 (3);{Stevens-Johnson syndrome, susceptibility to}, 608579 (3);{Synovitis, chronic, susceptibility to} (3);{Toxic epidermal necrolysis, susceptibility to}, 608579 (3); | 106300;608579;608579; |
HLA-DQA1 | {Celiac disease, susceptibility to}, 212750 (3); | 212750; |
HLA-DQB1 | {Celiac disease, susceptibility to}, 212750 (3);{Creutzfeldt-Jakob disease, variant, resistance to}, 123400 (3);{Multiple sclerosis, susceptibility to, 1}, 126200 (3); | 212750;123400;126200; |
HMGCS2 | HMG-CoA synthase-2 deficiency, 605911 (3); | 605911; |
HP | [Anhaptoglobinemia], 614081 (3);[Hypohaptoglobinemia], 614081 (3); | 614081;614081; |
HS6ST1 | {Hypogonadotropic hypogonadism 15 with or without anosmia}, 614880 (3); | 614880; |
HTR2C | ||
HTR3A | ||
HTRA1 | CARASIL syndrome, 600142 (3);Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779 (3);{Macular degeneration, age-related, 7}, 610149 (3);{Macular degeneration, age-related, neovascular type}, 610149 (3); | 600142;616779;610149;610149; |
HTRA2 | 3-methylglutaconic aciduria, type VIII, 617248 (3);{Parkinson disease 13}, 610297 (3); | 617248;610297; |
IFNAR2 | ?Immunodeficiency 45, 616669 (3);{Hepatitis B virus, susceptibility to}, 610424 (3); | 616669;610424; |
IL10 | {Graft-versus-host disease, protection against}, 614395 (3);{HIV-1, susceptibility to}, 609423 (3);{Rheumatoid arthritis, progression of}, 180300 (3); | 614395;609423;180300; |
IL12B | Immunodeficiency 29, mycobacteriosis, 614890 (3); | 614890; |
IL17F | ?Candidiasis, familial, 6, autosomal dominant, 613956 (3); | 613956; |
IL17RA | Immunodeficiency 51, 613953 (3); | 613953; |
IL17RC | Candidiasis, familial, 9, 616445 (3); | 616445; |
IL17RD | Hypogonadotropic hypogonadism 18 with or without anosmia, 615267 (3); | 615267; |
IL23R | {Inflammatory bowel disease 17, protection against}, 612261 (3);{Psoriasis, protection against}, 605606 (3); | 612261;605606; |
IL6 | {Crohn disease-associated growth failure}, 266600 (3);{Diabetes, susceptibility to}, 222100, 125853 (3);{Intracranial hemorrhage in brain cerebrovascular malformations, susceptibility to}, 108010 (3);{Kaposi sarcoma, susceptibility to}, 148000 (3);{Rheumatoid arthritis, systemic juvenile}, 604302 (3); | 266600;125853;108010;148000;604302; |
ITPR3 | {Diabetes, type 1, susceptibility to}, 222100 (2); | 222100; |
JAK2 | Erythrocytosis, somatic, 133100 (3);Leukemia, acute myeloid, somatic, 601626 (3);Myelofibrosis, somatic, 254450 (3);Polycythemia vera, somatic, 263300 (3);Thrombocythemia 3, 614521 (3);{Budd-Chiari syndrome, somatic}, 600880 (3); | 133100;601626;254450;263300;614521;600880; |
JPH3 | ?Huntington disease-like 2, 606438 (3); | 606438; |
JRK | ||
KCNAB1 | ||
KCND2 | ||
KCND3 | Brugada syndrome 9, 616399 (3);Spinocerebellar ataxia 19, 607346 (3); | 616399;607346; |
KCNH5 | ||
KCNJ5 | Hyperaldosteronism, familial, type III, 613677 (3);Long QT syndrome 13, 613485 (3); | 613677;613485; |
KISS1R | ?Precocious puberty, central, 1, 176400 (3);Hypogonadotropic hypogonadism 8 with or without anosmia, 614837 (3); | 176400;614837; |
KRIT1 | Cavernous malformations of CNS and retina, 116860 (3);Cerebral cavernous malformations-1, 116860 (3);Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations, 116860 (3); | 116860;116860;116860; |
LARS2 | ?Hydrops, lactic acidosis, and sideroblastic anemia, 617021 (3);Perrault syndrome 4, 615300 (3); | 617021;615300; |
LGI4 | Arthrogryposis multiplex congenita, neurogenic, with myelin defect, 617468 (3); | 617468; |
LMX1B | Nail-patella syndrome, 161200 (3); | 161200; |
MC1R | [Analgesia from kappa-opioid receptor agonist, female-specific], 613098 (3);[Skin/hair/eye pigmentation 2, blond hair/fair skin], 266300 (3);[Skin/hair/eye pigmentation 2, red hair/fair skin], 266300 (3);{Albinism, oculocutaneous, type II, modifier of}, 203200 (3);{Melanoma, cutaneous malignant, 5}, 613099 (3);{UV-induced skin damage}, 266300 (3); | 613098;266300;266300;203200;613099;266300; |
MC2R | Glucocorticoid deficiency, due to ACTH unresponsiveness, 202200 (3); | 202200; |
MC3R | {Mycobacterium tuberculosis, protection against}, 607948 (3);{Obesity, severe, susceptibility to, BMIQ9}, 602025 (3); | 607948;602025; |
ME2 | ||
MECR | Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, 617282 (3); | 617282; |
MEFV | Familial Mediterranean fever, AD, 134610 (3);Familial Mediterranean fever, AR, 249100 (3); | 134610;249100; |
MEGF10 | Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, 614399 (3);Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant, 614399 (3); | 614399;614399; |
MEN1 | Adrenal adenoma, somatic (3);Angiofibroma, somatic (3);Carcinoid tumor of lung (3);Lipoma, somatic (3);Multiple endocrine neoplasia 1, 131100 (3);Parathyroid adenoma, somatic (3); | 131100; |
MIB1 | Left ventricular noncompaction 7, 615092 (3); | 615092; |
MLH3 | Colorectal cancer, hereditary nonpolyposis, type 7, 614385 (3);Colorectal cancer, somatic, 114500 (3);{Endometrial cancer, susceptibility to}, 608089 (3); | 614385;114500;608089; |
MPL | Myelofibrosis with myeloid metaplasia, somatic, 254450 (3);Thrombocythemia 2, 601977 (3);Thrombocytopenia, congenital amegakaryocytic, 604498 (3); | 254450;601977;604498; |
MRAP | Glucocorticoid deficiency 2, 607398 (3); | 607398; |
NAGS | N-acetylglutamate synthase deficiency, 237310 (3); | 237310; |
NAPB | Amyotrophy, hereditary neuralgic, 162100 (3);Leukemia, acute myeloid, therapy-related (1);Ovarian carcinoma (1); | 162100; |
NAXE | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 617186 (3); | 617186; |
NBAS | Infantile liver failure syndrome 2, 616483 (3);Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800 (3); | 616483;614800; |
NDUFA8 | ||
NEK9 | ?Arthrogryposis, Perthes disease, and upward gaze palsy, 614262 (3);Lethal congenital contracture syndrome 10, 617022 (3);Nevus comedonicus, somatic, 617025 (3); | 614262;617022;617025; |
NEUROD1 | Maturity-onset diabetes of the young 6, 606394 (3);{Diabetes mellitus, noninsulin-dependent}, 125853 (3); | 606394;125853; |
NIPA1 | Spastic paraplegia 6, autosomal dominant, 600363 (3); | 600363; |
NIPA2 | ||
NNT | Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency, 614736 (3); | 614736; |
NOD2 | Blau syndrome, 186580 (3);{Inflammatory bowel disease 1, Crohn disease}, 266600 (3);{Psoriatic arthritis, susceptibility to}, 607507 (2);{Yao syndrome}, 617321 (3); | 186580;266600;607507;617321; |
NOL3 | Myoclonus, familial cortical, 614937 (3); | 614937; |
NSMF | Hypogonadotropic hypogonadism 9 with or without anosmia, 614838 (3); | 614838; |
OAS1 | {Diabetes mellitus, type 1, susceptibility to}, 222100 (3); | 222100; |
OPLAH | 5-oxoprolinase deficiency, 260005 (3); | 260005; |
OPRM1 | ||
PCSK1 | Obesity with impaired prohormone processing, 600955 (3);{Obesity, susceptibility to, BMIQ12}, 612362 (3); | 600955;612362; |
PDCD10 | Cerebral cavernous malformations 3, 603285 (3); | 603285; |
PDGFB | Basal ganglia calcification, idiopathic, 5, 615483 (3);Dermatofibrosarcoma protuberans, 607907 (3);Meningioma, SIS-related, 607174 (3); | 615483;607907;607174; |
PDYN | Spinocerebellar ataxia 23, 610245 (3); | 610245; |
PFKM | Glycogen storage disease VII, 232800 (3); | 232800; |
PHYKPL | [?Phosphohydroxylysinuria], 615011 (3); | 615011; |
PIGQ | ||
PMS1 | ||
PNKD | ||
PNPLA8 | ?Mitochondrial myopathy with lactic acidosis, 251950 (3); | 251950; |
PNPT1 | Combined oxidative phosphorylation deficiency 13, 614932 (3);Deafness, autosomal recessive 70, 614934 (3); | 614932;614934; |
POLR1A | Acrofacial dysostosis, Cincinnati type, 616462 (3); | 616462; |
POMC | Obesity, adrenal insufficiency, and red hair due to POMC deficiency, 609734 (3);{Obesity, early-onset, susceptibility to}, 601665 (3); | 609734;601665; |
PPA2 | ?Sudden cardiac failure, alcohol-induced, 617223 (3);Sudden cardiac failure, infantile, 617222 (3); | 617223;617222; |
PPT2 | ||
PRDM8 | ?Epilepsy, progressive myoclonic, 10, 616640 (3); | 616640; |
PRKAG2 | Cardiomyopathy, hypertrophic 6, 600858 (3);Glycogen storage disease of heart, lethal congenital, 261740 (3);Wolff-Parkinson-White syndrome, 194200 (3); | 600858;261740;194200; |
PROK2 | Hypogonadotropic hypogonadism 4 with or without anosmia, 610628 (3); | 610628; |
PROS1 | Thrombophilia due to protein S deficiency, autosomal dominant, 612336 (3);Thrombophilia due to protein S deficiency, autosomal recessive, 614514 (3); | 612336;614514; |
PSEN2 | Alzheimer disease-4, 606889 (3);Cardiomyopathy, dilated, 1V, 613697 (3); | 606889;613697; |
PTF1A | Pancreatic agenesis 2, 615935 (3);Pancreatic and cerebellar agenesis, 609069 (3); | 615935;609069; |
PTPN22 | {Diabetes, type 1, susceptibility to}, 222100 (3);{Rheumatoid arthritis, susceptibility to}, 180300 (3);{Systemic lupus erythematosus susceptibility to}, 152700 (3); | 222100;180300;152700; |
RAPSN | Fetal akinesia deformation sequence, 208150 (3);Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326 (3); | 208150;616326; |
RBP4 | Microphthalmia, isolated, with coloboma 10, 616428 (3);Retinal dystrophy, iris coloboma, and comedogenic acne syndrome, 615147 (3); | 616428;615147; |
ROBO3 | Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313 (3); | 607313; |
RTN2 | Spastic paraplegia 12, autosomal dominant, 604805 (3); | 604805; |
RYR2 | Arrhythmogenic right ventricular dysplasia 2, 600996 (3);Ventricular tachycardia, catecholaminergic polymorphic, 1, 604772 (3); | 600996;604772; |
SCN10A | Episodic pain syndrome, familial, 2, 615551 (3); | 615551; |
SCN11A | Episodic pain syndrome, familial, 3, 615552 (3);Neuropathy, hereditary sensory and autonomic, type VII, 615548 (3); | 615552;615548; |
SCN2B | Atrial fibrillation, familial, 14, 615378 (3); | 615378; |
SCN5A | Atrial standstill, digenic (GJA5/SCN5A), 108770 (3);Atrial fibrillation, familial, 10, 614022 (3);Atrial standstill, digenic (GJA5/SCN5A), 108770 (3);Brugada syndrome 1, 601144 (3);Cardiomyopathy, dilated, 1E, 601154 (3);Heart block, nonprogressive, 113900 (3);Heart block, progressive, type IA, 113900 (3);Long QT syndrome-3, 603830 (3);Sick sinus syndrome 1, 608567 (3);Ventricular fibrillation, familial, 1, 603829 (3);{Sudden infant death syndrome, susceptibility to}, 272120 (3); | 108770;614022;108770;601144;601154;113900;113900;603830;608567;603829;272120; |
SDHAF1 | Mitochondrial complex II deficiency, 252011 (3); | 252011; |
SEMA3A | {Hypogonadotropic hypogonadism 16 with or without anosmia}, 614897 (3); | 614897; |
SERPINI1 | Encephalopathy, familial, with neuroserpin inclusion bodies, 604218 (3); | 604218; |
SGCE | Dystonia-11, myoclonic, 159900 (3); | 159900; |
SH2D1A | Lymphoproliferative syndrome, X-linked, 1, 308240 (3); | 308240; |
SLC12A2 | ||
SLC12A3 | Gitelman syndrome, 263800 (3); | 263800; |
SLC17A8 | Deafness, autosomal dominant 25, 605583 (3); | 605583; |
SLC22A5 | Carnitine deficiency, systemic primary, 212140 (3); | 212140; |
SLC25A4 | Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, 617184 (3);Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, 615418 (3);Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, 609283 (3); | 617184;615418;609283; |
SLC4A5 | ||
SPRY4 | Hypogonadotropic hypogonadism 17 with or without anosmia, 615266 (3); | 615266; |
SPTLC2 | Neuropathy, hereditary sensory and autonomic, type IC, 613640 (3); | 613640; |
SQSTM1 | Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, 616437 (3);Myopathy, distal, with rimmed vacuoles, 617158 (3);Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, 617145 (3);Paget disease of bone 3, 167250 (3); | 616437;617158;617145;167250; |
STAT1 | Immunodeficiency 31A, mycobacteriosis, autosomal dominant, 614892 (3);Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive, 613796 (3);Immunodeficiency 31C, autosomal dominant, 614162 (3); | 614892;613796;614162; |
STAT2 | Immunodeficiency 44, 616636 (3); | 616636; |
STAT4 | {Systemic lupus erythematosus, susceptibility to, 11}, 612253 (3); | 612253; |
STX16 | Pseudohypoparathyroidism, type IB, 603233 (3); | 603233; |
TACR3 | Hypogonadotropic hypogonadism 11 with or without anosmia, 614840 (3); | 614840; |
TBC1D32 | ||
TBX19 | Adrenocorticotropic hormone deficiency, 201400 (3); | 201400; |
TCIRG1 | Osteopetrosis, autosomal recessive 1, 259700 (3); | 259700; |
TDP1 | Spinocerebellar ataxia, autosomal recessive with axonal neuropathy, 607250 (3); | 607250; |
THPO | Thrombocythemia 1, 187950 (3); | 187950; |
TLR4 | ||
TNF | {Asthma, susceptibility to}, 600807 (3);{Dementia, vascular, susceptibility to} (3);{Malaria, cerebral, susceptibility to}, 611162 (3);{Migraine without aura, susceptibility to}, 157300 (3);{Septic shock, susceptibility to} (3); | 600807;611162;157300; |
TNFRSF1A | Periodic fever, familial, 142680 (3);{Multiple sclerosis, susceptibility to, 5}, 614810 (3); | 142680;614810; |
TP53 | Adrenal cortical carcinoma, 202300 (3);Breast cancer, 114480 (3);Choroid plexus papilloma, 260500 (3);Colorectal cancer, 114500 (3);Hepatocellular carcinoma, 114550 (3);Li-Fraumeni syndrome, 151623 (3);Nasopharyngeal carcinoma, 607107 (3);Osteosarcoma, 259500 (3);Pancreatic cancer, 260350 (3);{Basal cell carcinoma 7}, 614740 (3);{Glioma susceptibility 1}, 137800 (3); | 202300;114480;260500;114500;114550;151623;607107;259500;260350;614740;137800; |
TRAF3 | {?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5}, 614849 (3); | 614849; |
TRAF3IP2 | ?Candidiasis, familial, 8, 615527 (3);{Psoriasis susceptibility 13}, 614070 (3); | 615527;614070; |
TRAPPC10 | ||
TRDN | Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, 615441 (3); | 615441; |
TREM2 | Nasu-Hakola disease, 221770 (3); | 221770; |
TRIM2 | Charcot-Marie-Tooth disease, type 2R, 615490 (3); | 615490; |
TSEN2 | Pontocerebellar hypoplasia type 2B, 612389 (3); | 612389; |
TSEN34 | ?Pontocerebellar hypoplasia type 2C, 612390 (3); | 612390; |
TSPEAR | ?Deafness, autosomal recessive 98, 614861 (3); | 614861; |
TTR | Amyloidosis, hereditary, transthyretin-related, 105210 (3);Carpal tunnel syndrome, familial, 115430 (3);[Dystransthyretinemic hyperthyroxinemia], 145680 (3); | 105210;115430;145680; |
TYROBP | Nasu-Hakola disease, 221770 (3); | 221770; |
U2AF1 | ||
UCHL1 | Spastic paraplegia 79, autosomal recessive, 615491 (3);{?Parkinson disease 5, susceptibility to}, 613643 (3); | 615491;613643; |
USP18 | Pseudo-TORCH syndrome 2, 617397 (3); | 617397; |
VDR | ?Osteoporosis, involutional, 166710 (1);Rickets, vitamin D-resistant, type IIA, 277440 (3); | 166710;277440; |
VPS13A | Choreoacanthocytosis, 200150 (3); | 200150; |
XK | McLeod syndrome with or without chronic granulomatous disease, 300842 (3); | 300842; |
XPR1 | Basal ganglia calcification, idiopathic, 6, 616413 (3); | 616413; |
AARS | Charcot-Marie-Tooth disease, axonal, type 2N; Epileptic encephalopathy, early infantile, 29 | 613287; 616339 |
ABAT | GABA-transaminase deficiency | 613163 |
ACTB | Baraitser-Winter syndrome 1 ; ?Dystonia, juvenile-onset | 243310; 607371 |
ACY1 | Aminoacylase 1 deficiency | 609924 |
ADCK3 | Coenzyme Q10 deficiency, primary, 4 | 612016 |
ADSL | Adenylosuccinase deficiency | 103050 |
ALG1 | Congenital disorder of glycosylation, type Ik | 608540 |
ALG11 | Congenital disorder of glycosylation, type Ip | 613661 |
ALG13 | Epileptic encephalopathy, early infantile, 36 | 300884 |
ALG3 | Congenital disorder of glycosylation, type Id | 601110 |
ALG6 | Congenital disorder of glycosylation, type Ic | 603147 |
AMT | Glycine encephalopathy | 605899 |
ARHGEF9 | Epileptic encephalopathy, early infantile, 8 | 300607 |
ARX | Epileptic encephalopathy, early infantile, 1 ; Hydranencephaly with abnormal genitalia; Lissencephaly, X-linked 2 ; Mental retardation, X-linked 29 and others; Partington syndrome; Proud syndrome | 308350; 300215; 300419; 309510; 300004 |
ATP1A2 | Alternating hemiplegia of childhood; Migraine, familial basilar; Migraine, familial hemiplegic, 2 | 104290; 602481 |
ATP6AP2 | ?Parkinsonism with spasticity, X-linked; ?Mental retardation, X-linked, syndromic, Hedera type | 300911; 300423 |
ATP7A | Menkes disease; Occipital horn syndrome; Spinal muscular atrophy, distal, X-linked 3 | 309400; 304150; 300489 |
ATRX | Alpha-thalassemia myelodysplasia syndrome, somatic; Alpha-thalassemia/mental retardation syndrome; Mental retardation-hypotonic facies syndrome, X-linked | 300448; 301040; 309580 |
AUTS2 | Mental retardation, autosomal dominant 26 | 615834 |
BRAT1 | Rigidity and multifocal seizure syndrome, lethal neonatal | 614498 |
BTD | Biotinidase deficiency | 253260 |
CASK | FG syndrome 4 ; Mental retardation and microcephaly with pontine and cerebellar hypoplasia; Mental retardation, with or without nystagmus | 300422; 300749 |
CDKL5 | Epileptic encephalopathy, early infantile, 2 | 300672 |
CHD2 | Epileptic encephalopathy, childhood-onset | 615369 |
CLN3 | Ceroid lipofuscinosis, neuronal, 3 | 204200 |
CLN5 | Ceroid lipofuscinosis, neuronal, 5 | 256731 |
CLN6 | Ceroid lipofuscinosis, neuronal, 6 ; Ceroid lipofuscinosis, neuronal, Kufs type, adult onset | 601780; 204300 |
CLN8 | Ceroid lipofuscinosis, neuronal, 8 ; Ceroid lipofuscinosis, neuronal, 8 Northern epilepsy variant | 600143; 610003 |
CNNM2 | Hypomagnesemia 6 renal; Hypomagnesemia, seizures, and mental retardation | 613882; 616418 |
CNTNAP2 | Cortical dysplasia-focal epilepsy syndrome; Pitt-Hopkins like syndrome 1 ; {Autism susceptibility 15} | 610042; 612100 |
COL4A1 | Angiopathy, 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 |
COL4A3BP | Mental retardation, autosomal dominant 34 | 616351 |
COQ2 | Coenzyme Q10 deficiency, primary, 1 ; {Multiple system atrophy, susceptibility to} | 607426; 146500 |
COQ4 | Coenzyme Q10 deficiency, primary, 7 | 616276 |
CPS1 | Carbamoylphosphate synthetase I deficiency; {Pulmonary hypertension, neonatal, susceptibility to}; {Venoocclusive disease after bone marrow transplantation} | 237300; 615371; - |
CTSD | Ceroid lipofuscinosis, neuronal, 10 | 610127 |
CUL4B | Mental retardation, X-linked, syndromic 15 (Cabezas type) | 300354 |
D2HGDH | D-2-hydroxyglutaric aciduria | 600721 |
DCX | Lissencephaly, X-linked; Subcortical laminal heteropia, X-linked | 300067 |
DNM1 | Epileptic encephalopathy, early infantile, 31 | 616346 |
DOCK7 | Epileptic encephalopathy, early infantile, 23 | 615859 |
DPAGT1 | Congenital disorder of glycosylation, type Ij; Myasthenic syndrome, congenital, 13 with tubular aggregates | 608093; 614750 |
DPM1 | Congenital disorder of glycosylation, type Ie | 608799 |
DPYD | 5-fluorouracil toxicity; Dihydropyrimidine dehydrogenase deficiency | 274270 |
DYNC1H1 | Charcot-Marie-Tooth disease, axonal, type 20 ; Mental retardation, autosomal dominant 13 ; Spinal muscular atrophy, lower extremity-predominant 1 AD | 614228; 614563; 158600 |
DYRK1A | Mental retardation, autosomal dominant 7 | 614104 |
EEF1A2 | Epileptic encephalopathy, early infantile, 33 ; Mental retardation, autosomal dominant 38 | 616409; 616393 |
EHMT1 | Kleefstra syndrome | 610253 |
FGD1 | Aarskog-Scott syndrome; Mental retardation, X-linked syndromic 16 | 305400 |
FLNA | Cardiac 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 dysplasia | 314400; 300048; 300321; 305620; 300049; 300537; 309350; 311300; 304120; 300244 |
FOXG1 | Rett syndrome, congenital variant | 613454 |
GABRA1 | Epileptic encephalopathy, early infantile, 19 ; {Epilepsy, childhood absence, susceptibility to, 4}; {Epilepsy, juvenile myoclonic, susceptibility to, 5} | 615744; 611136 |
GAMT | Cerebral creatine deficiency syndrome 2 | 612736 |
GCSH | Glycine encephalopathy | 605899 |
GLDC | Glycine encephalopathy | 605899 |
GNAO1 | Epileptic encephalopathy, early infantile, 17 | 615473 |
GPC3 | Simpson-Golabi-Behmel syndrome, type 1 ; Wilms tumor, somatic | 312870; 194070 |
GPHN | Molybdenum cofactor deficiency C | 615501 |
GRIA3 | Mental retardation, X-linked 94 | 300699 |
GRIN1 | Mental retardation, autosomal dominant 8 | 614254 |
GRIN2A | Epilepsy, focal, with speech disorder and with or without mental retardation | 245570 |
GRIN2B | Epileptic encephalopathy, early infantile, 27 ; Mental retardation, autosomal dominant 6 | 616139; 613970 |
HCN1 | Epileptic encephalopathy, early infantile, 24 | 615871 |
HDAC4 | No OMIM phenotype | NoOMIMPhenotype |
HLCS | Holocarboxylase synthetase deficiency | 253270 |
HSD17B10 | 17-beta-hydroxysteroid dehydrogenase X deficiency; ?Mental retardation, X-linked syndromic 10 | 300438; 300220 |
IER3IP1 | Microcephaly, epilepsy, and diabetes syndrome | 614231 |
IFIH1 | Aicardi-Goutieres syndrome 7 ; Singleton-Merten syndrome 1 | 615846; 182250 |
IQSEC2 | Mental retardation, X-linked 1/78 | 309530 |
JAM3 | Hemorrhagic destruction of the brain, subependymal calcification, and cataracts | 613730 |
KANSL1 | Koolen-De Vries syndrome | 610443 |
KCNA2 | Epileptic encephalopathy, early infantile, 32 | 616366 |
KCNB1 | Epileptic encephalopathy, early infantile, 26 | 616056 |
KCNH1 | Temple-Baraitser syndrome; Zimmermann-Laband syndrome 1 | 611816; 135500 |
KCNJ10 | Enlarged vestibular aqueduct, digenic; SESAME syndrome | 600791; 612780 |
KCNJ11 | Diabetes 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 |
KCNQ2 | Epileptic encephalopathy, early infantile, 7 ; Myokymia; Seizures, benign neonatal, 1 | 613720; 121200 |
KCNT1 | Epilepsy, nocturnal frontal lobe, 5 ; Epileptic encephalopathy, early infantile, 14 | 615005; 614959 |
KCTD7 | Epilepsy, progressive myoclonic 3 with or without intracellular inclusions | 611726 |
KDM5C | Mental retardation, X-linked, syndromic, Claes-Jensen type | 300534 |
KIAA2022 | Mental retardation, X-linked 98 | 300912 |
KPTN | Mental retardation, autosomal recessive 41 | 615637 |
LIAS | Hyperglycinemia, lactic acidosis, and seizures | 614462 |
MBD5 | Mental retardation, autosomal dominant 1 | 156200 |
MECP2 | Encephalopathy, 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 |
MED12 | Lujan-Fryns syndrome; Ohdo syndrome, X-linked; Opitz-Kaveggia syndrome | 309520; 300895; 305450 |
MEF2C | Chromosome 5q14,3 deletion syndrome; Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations | 613443 |
MOCS1 | Molybdenum cofactor deficiency A | 252150 |
MOCS2 | Molybdenum cofactor deficiency B | 252160 |
MPDU1 | Congenital disorder of glycosylation, type If | 609180 |
MTHFR | Homocystinuria due to MTHFR deficiency; {Neural tube defects, susceptibility to}; {Schizophrenia, susceptibility to}; {Thromboembolism, susceptibility to}; {Vascular disease, susceptibility to} | 236250; 601634; 181500; 188050; - |
MTOR | Smith-Kingsmore syndrome | 616638 |
NDUFA1 | Mitochondrial complex I deficiency | 252010 |
NDUFA11 | Mitochondrial complex I deficiency | 252010 |
NDUFAF5 | Mitochondrial complex 1 deficiency | 252010 |
NDUFS1 | Mitochondrial complex I deficiency | 252010 |
NDUFS2 | Mitochondrial complex I deficiency | 252010 |
NDUFS3 | Leigh syndrome due to mitochondrial complex I deficiency; Mitochondrial complex I deficiency | 256000; 252010 |
NDUFS4 | Leigh syndrome; Mitochondrial complex I deficiency | 256000; 252010 |
NDUFV1 | Mitochondrial complex I deficiency | 252010 |
NECAP1 | ?Epileptic encephalopathy, early infantile, 21 | 615833 |
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 |
NRXN1 | Pitt-Hopkins-like syndrome 2 ; {Schizophrenia, susceptibility to, 17} | 614325; 614332 |
OFD1 | Joubert syndrome 10 ; Orofaciodigital syndrome I; Simpson-Golabi-Behmel syndrome, type 2 ; ?Retinitis pigmentosa 23 | 300804; 311200; 300209; 300424 |
OPHN1 | Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance | 300486 |
PAK3 | Mental retardation, X-linked 30/47 | 300558 |
PC | Pyruvate carboxylase deficiency | 266150 |
PCDH19 | Epileptic encephalopathy, early infantile, 9 | 300088 |
PDHA1 | Pyruvate dehydrogenase E1-alpha deficiency | 312170 |
PET100 | Mitochondrial complex IV deficiency | 220110 |
PEX1 | Heimler syndrome 1 ; Peroxisome biogenesis disorder 1A (Zellweger); Peroxisome biogenesis disorder 1B (NALD/IRD) | 234580; 214100; 601539 |
PEX10 | Peroxisome biogenesis disorder 6A (Zellweger); Peroxisome biogenesis disorder 6B | 614870; 614871 |
PEX12 | Peroxisome biogenesis disorder 3A (Zellweger); Peroxisome biogenesis disorder 3B | 614859; 266510 |
PEX13 | Peroxisome biogenesis disorder 11A (Zellweger); Peroxisome biogenesis disorder 11B | 614883; 614885 |
PEX16 | Peroxisome biogenesis disorder 8A, (Zellweger); Peroxisome biogenesis disorder 8B | 614876; 614877 |
PEX19 | Peroxisome biogenesis disorder 12A (Zellweger) | 614886 |
PEX26 | Peroxisome biogenesis disorder 7A (Zellweger); Peroxisome biogenesis disorder 7B | 614872; 614873 |
PEX3 | Peroxisome biogenesis disorder 10A (Zellweger) | 614882 |
PEX5 | Peroxisome biogenesis disorder 2A (Zellweger); Peroxisome biogenesis disorder 2B; Rhizomelic chondrodysplasia punctata, type 5 | 214110; 202370; 616716 |
PEX6 | Heimler syndrome 2 ; Peroxisome biogenesis disorder 4A (Zellweger); Peroxisome biogenesis disorder 4B | 616617; 614862; 614863 |
PGAP3 | Hyperphosphatasia with mental retardation syndrome 4 | 615716 |
PHF6 | Borjeson-Forssman-Lehmann syndrome | 301900 |
PHGDH | Neu-Laxova syndrome 1 ; Phosphoglycerate dehydrogenase deficiency | 256520; 601815 |
PIGA | Multiple congenital anomalies-hypotonia-seizures syndrome 2 ; Paroxysmal nocturnal hemoglobinuria, somatic | 300868; 300818 |
PIGN | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | 614080 |
PIGO | Hyperphosphatasia with mental retardation syndrome 2 | 614749 |
PIGT | Multiple congenital anomalies-hypotonia-seizures syndrome 3 ; ?Paroxysmal nocturnal hemoglobinuria 2 | 615398; 615399 |
PLA2G6 | Infantile neuroaxonal dystrophy 1 ; Neurodegeneration with brain iron accumulation 2B; Parkinson disease 14 autosomal recessive | 256600; 610217; 612953 |
PLCB1 | Epileptic encephalopathy, early infantile, 12 | 613722 |
PLP1 | Pelizaeus-Merzbacher disease; Spastic paraplegia 2 X-linked | 312080; 312920 |
PMM2 | Congenital disorder of glycosylation, type Ia | 212065 |
PNKP | Ataxia-oculomotor apraxia 4 ; Microcephaly, seizures, and developmental delay | 616267; 613402 |
POLG | Mitochondrial 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 1 | 203700; 613662; 607459; 157640; 258450 |
PPP2R1A | Mental retardation, autosomal dominant 36 | 616362 |
PPT1 | Ceroid lipofuscinosis, neuronal, 1 | 256730 |
PQBP1 | Renpenning syndrome | 309500 |
PURA | Mental retardation, autosomal dominant 31 | 616158 |
PYCR2 | Leukodystrophy, hypomyelinating, 10 | 616420 |
QARS | Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy | 615760 |
RAB39B | Mental retardation, X-linked 72 ; ?Waisman syndrome | 300271; 311510 |
RARS2 | Pontocerebellar hypoplasia, type 6 | 611523 |
RNASEH2A | Aicardi-Goutieres syndrome 4 | 610333 |
RNASEH2B | Aicardi-Goutieres syndrome 2 | 610181 |
RNASEH2C | Aicardi-Goutieres syndrome 3 | 610329 |
ROGDI | Kohlschutter-Tonz syndrome | 226750 |
RPS6KA3 | Coffin-Lowry syndrome; Mental retardation, X-linked 19 | 303600; 300844 |
SCN1A | Dravet syndrome; Epilepsy, generalized, with febrile seizures plus, type 2 ; Febrile seizures, familial, 3A; Migraine, familial hemiplegic, 3 | 607208; 604403; 609634 |
SCN2A | Epileptic encephalopathy, early infantile, 11 ; Seizures, benign familial infantile, 3 | 613721; 607745 |
SCN8A | Epileptic encephalopathy, early infantile, 13 ; ?Cognitive impairment with or without cerebellar ataxia | 614558; 614306 |
SIK1 | Epileptic encephalopathy, early infantile, 30 | 616341 |
SLC13A5 | Epileptic encephalopathy, early infantile, 25 | 615905 |
SLC19A3 | Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), | 607483 |
SLC25A15 | Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome | 238970 |
SLC25A22 | Epileptic encephalopathy, early infantile, 3 | 609304 |
SLC2A1 | Dystonia 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 |
SLC35A2 | Congenital disorder of glycosylation, type IIm | 300896 |
SLC6A8 | Cerebral creatine deficiency syndrome 1 | 300352 |
SLC9A6 | Mental retardation, X-linked syndromic, Christianson type | 300243 |
SMARCA2 | Nicolaides-Baraitser syndrome | 601358 |
SMC1A | Cornelia de Lange syndrome 2 | 30059 |
SMS | Mental retardation, X-linked, Snyder-Robinson type | 309583 |
SPTAN1 | Epileptic encephalopathy, early infantile, 5 | 613477 |
ST3GAL3 | Epileptic encephalopathy, early infantile, 15 ; Mental retardation, autosomal recessive 12 | 615006; 611090 |
ST3GAL5 | Amish infantile epilepsy syndrome | 609056 |
STXBP1 | Epileptic encephalopathy, early infantile, 4 | 612164 |
SUOX | Sulfite oxidase deficiency | 272300 |
SYN1 | Epilepsy, X-linked, with variable learning disabilities and behavior disorders | 300491 |
SYNGAP1 | Mental retardation, autosomal dominant 5 | 612621 |
SYP | Mental retardation, X-linked 96 | 300802 |
SZT2 | Epileptic encephalopathy, early infantile, 18 | 615476 |
TBC1D24 | Deafness , autosomal recessive 86 ; Deafness, autosomal dominant 65 ; DOOR syndrome; Epileptic encephalopathy, early infantile, 16 ; Myoclonic epilepsy, infantile, familial | 614617; 616044; 220500; 615338; 605021 |
TBCE | Hypoparathyroidism-retardation-dysmorphism syndrome; Kenny-Caffey syndrome, type 1 | 241410; 244460 |
TCF4 | Corneal dystrophy, Fuchs endothelial, 3 ; Pitt-Hopkins syndrome | 613267; 610954 |
TPP1 | Ceroid lipofuscinosis, neuronal, 2 ; Spinocerebellar ataxia, autosomal recessive 7 | 204500; 609270 |
TREX1 | Aicardi-Goutieres syndrome 1 dominant and recessive; Chilblain lupus; Vasculopathy, retinal, with cerebral leukodystrophy; {Systemic lupus erythematosus, susceptibility to} | 225750; 610448; 192315; 152700 |
TSC1 | Lymphangioleiomyomatosis; Tuberous sclerosis-1 | 606690; 191100 |
TSC2 | Lymphangioleiomyomatosis, somatic; Tuberous sclerosis-2 | 606690; 613254 |
TUBG1 | Cortical dysplasia, complex, with other brain malformations 4 | 615412 |
UBE3A | Angelman syndrome | 105830 |
WWOX | Epileptic encephalopathy, early infantile, 28 ; Esophageal squamous cell carcinoma, somatic; Spinocrebellar ataxia, autosomal recessive 12 | 616211; 133239; 614322 |
ZEB2 | Mowat-Wilson syndrome | 235730 |
A2M | Alpha-2-macroglobulin deficiency, 614036 (1);{Alzheimer disease, susceptibility to}, 104300 (3); | 614036;104300; |
AAAS | Achalasia-addisonianism-alacrimia syndrome, 231550 (3); | 231550; |
AASS | Hyperlysinemia, 238700 (3);Saccharopinuria, 268700 (1); | 238700;268700; |
ACADM | Acyl-CoA dehydrogenase, medium chain, deficiency of, 201450 (3); | 201450; |
ACADS | Acyl-CoA dehydrogenase, short-chain, deficiency of, 201470 (3); | 201470; |
ACADSB | 2-methylbutyrylglycinuria, 610006 (3); | 610006; |
ACTA2 | Aortic 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; |
ADAMTSL2 | Geleophysic dysplasia 1, 231050 (3); | 231050; |
ADD3 | Cerebral palsy, spastic quadriplegic, 3, 617008 (3); | 617008; |
ADRA2B | Epilepsy, myoclonic, familial adult, 2, 607876 (3); | 607876; |
AFG3L2 | Spastic ataxia 5, autosomal recessive, 614487 (3);Spinocerebellar ataxia 28, 610246 (3); | 614487;610246; |
AGL | Glycogen storage disease IIIa, 232400 (3);Glycogen storage disease IIIb, 232400 (3); | 232400;232400; |
AGPS | Rhizomelic chondrodysplasia punctata, type 3, 600121 (3); | 600121; |
AGRN | Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120 (3); | 615120; |
AGTR2 | ||
AHSG | ?Alopecia-mental retardation syndrome 1, 203650 (3); | 203650; |
AIPL1 | Cone-rod dystrophy, 604393 (3);Leber congenital amaurosis 4, 604393 (3);Retinitis pigmentosa, juvenile, 604393 (3); | 604393;604393;604393; |
AKT1 | Breast 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; |
ALDOB | Fructose intolerance, hereditary, 229600 (3); | 229600; |
AMER1 | Osteopathia striata with cranial sclerosis, 300373 (3); | 300373; |
ANK1 | Spherocytosis, type 1, 182900 (3); | 182900; |
ANKLE2 | ?Microcephaly 16, primary, autosomal recessive, 616681 (3); | 616681; |
AP3B2 | Epileptic encephalopathy, early infantile, 48, 617276 (3); | 617276; |
APC2 | ?Sotos syndrome 3, 617169 (3); | 617169; |
APOL2 | {Schizophrenia}, 181500 (1); | 181500; |
APOL4 | {Schizophrenia}, 181500 (1); | 181500; |
APP | Alzheimer disease 1, familial, 104300 (3);Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants, 605714 (3); | 104300;605714; |
AQP2 | Diabetes insipidus, nephrogenic, 125800 (3); | 125800; |
ARCN1 | Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay, 617164 (3); | 617164; |
ARHGDIA | Nephrotic syndrome, type 8, 615244 (3); | 615244; |
ARID2 | Coffin-Siris syndrome 6, 617808 (3); | 617808; |
ARMC9 | Joubert syndrome 30, 617622 (3); | 617622; |
ARNT2 | ?Webb-Dattani syndrome, 615926 (3); | 615926; |
ARSA | Metachromatic leukodystrophy, 250100 (3); | 250100; |
ARV1 | Epileptic encephalopathy, early infantile, 38, 617020 (3); | 617020; |
ASCL1 | Central hypoventilation syndrome, congenital, 209880 (3);Haddad syndrome, 209880 (3); | 209880;209880; |
ASS1 | Citrullinemia, 215700 (3); | 215700; |
ASXL2 | Shashi-Pena syndrome, 617190 (3); | 617190; |
ATAD1 | Hyperekplexia 4, 618011 (3); | 618011; |
ATAD3A | Harel-Yoon syndrome, 617183 (3); | 617183; |
ATM | Ataxia-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; |
ATN1 | Dentatorubro-pallidoluysian atrophy, 125370 (3); | 125370; |
ATP13A2 | Kufor-Rakeb syndrome, 606693 (3);Spastic paraplegia 78, autosomal recessive, 617225 (3); | 606693;617225; |
ATP6AP1 | Immunodeficiency 47, 300972 (3); | 300972; |
ATP6V1A | Cutis laxa, autosomal recessive, type IID; Epileptic encephalopathy, infantile or early childhood, 3 | 617403; 618012 |
ATP6V1E1 | Cutis laxa, autosomal recessive, type IIC, 617402 (3); | 617402; |
AVPR2 | Diabetes insipidus, nephrogenic, 304800 (3);Nephrogenic syndrome of inappropriate antidiuresis, 300539 (3); | 304800;300539; |
B3GAT3 | Multiple 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; |
BCKDK | Branched-chain ketoacid dehydrogenase kinase deficiency, 614923 (3); | 614923; |
BCL11B | ?Immunodeficiency 49, 617237 (3); | 617237; |
BCR | Leukemia, acute lymphocytic, somatic, 613065 (3);Leukemia, chronic myeloid, somatic, 608232 (3); | 613065;608232; |
BDNF | ||
BIN1 | Centronuclear myopathy 2, 255200 (3); | 255200; |
BMP2 | Brachydactyly, 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; |
BMP4 | Microphthalmia, syndromic 6, 607932 (3);Orofacial cleft 11, 600625 (3); | 607932;600625; |
BRCA2 | Fanconi 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; |
CACNA1C | Brugada syndrome 3, 611875 (3);Timothy syndrome, 601005 (3); | 611875;601005; |
CACNA1D | Primary aldosteronism, seizures, and neurologic abnormalities, 615474 (3);Sinoatrial node dysfunction and deafness, 614896 (3); | 615474;614896; |
CACNA2D1 | Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disability. | PMID: 25074461 |
CACNB4 | Episodic ataxia, type 5, 613855 (3);{Epilepsy, idiopathic generalized, susceptibility to, 9}, 607682 (3);{Epilepsy, juvenile myoclonic, susceptibility to, 6}, 607682 (3); | 613855;607682;607682; |
CAD | Epileptic encephalopathy, early infantile, 50, 616457 (3); | 616457; |
CARS2 | Combined oxidative phosphorylation deficiency 27, 616672 (3); | 616672; |
CCDC115 | Congenital 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; |
CD96 | C syndrome, 211750 (3); | 211750; |
CDC42 | Takenouchi-Kosaki syndrome, 616737 (3); | 616737; |
CDH11 | Elsahy-Waters syndrome, 211380 (3); | 211380; |
CDH23 | Deafness, 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; |
CEP104 | Joubert syndrome 25, 616781 (3); | 616781; |
CEP120 | Joubert syndrome 31, 617761 (3);Short-rib thoracic dysplasia 13 with or without polydactyly, 616300 (3); | 617761;616300; |
CEP164 | Nephronophthisis 15, 614845 (3); | 614845; |
CEP57 | Mosaic variegated aneuploidy syndrome 2, 614114 (3); | 614114; |
CEP63 | ?Seckel syndrome 6, 614728 (3); | 614728; |
CERS1 | ?Epilepsy, progressive myoclonic, 8, 616230 (3); | 616230; |
CHAT | Myasthenic syndrome, congenital, 6, presynaptic, 254210 (3); | 254210; |
CHI3L1 | {Asthma-related traits, susceptibility to, 7}, 611960 (3);{Schizophrenia, susceptibility to}, 181500 (3); | 611960;181500; |
CHN1 | Duane retraction syndrome 2, 604356 (3); | 604356; |
CHRDL1 | Megalocornea 1, X-linked 309300 (3); | 309300; |
CHRNA7 | 15q13.3 recurrent region loss | 612001; |
CISD2 | Wolfram syndrome 2, 604928 (3); | 604928; |
CIT | Microcephaly 17, primary, autosomal recessive, 617090 (3); | 617090; |
CLCN2 | Leukoencephalopathy 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; |
CLP1 | Pontocerebellar hypoplasia, type 10, 615803 (3); | 615803; |
CLTC | Mental retardation, autosomal dominant 56, 617854 (3); | 617854; |
CLTCL1 | ||
CNKSR2 | Mental retardation, X-linked, syndromic, Houge type, 301008 (3); | 301008; |
CNPY3 | Epileptic 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; |
COL13A1 | Myasthenic syndrome, congenital, 19, 616720 (3); | 616720; |
COL18A1 | Knobloch syndrome, type 1, 267750 (3); | 267750; |
COL25A1 | Fibrosis of extraocular muscles, congenital, 5, 616219 (3); | 616219; |
COL3A1 | Ehlers-Danlos syndrome, vascular type, 130050 (3); | 130050; |
COMT | {Panic disorder, susceptibility to}, 167870 (3);{Schizophrenia, susceptibility to}, 181500 (3); | 167870;181500; |
CORO1A | Immunodeficiency 8, 615401 (3); | 615401; |
COX14 | ?Mitochondrial complex IV deficiency, 220110 (3); | 220110; |
COX20 | Mitochondrial complex IV deficiency, 220110 (3); | 220110; |
COX7B | Linear skin defects with multiple congenital anomalies 2, 300887 (3); | 300887; |
COX8A | ?Mitochondrial complex IV deficiency, 220110 (3); | 220110; |
CPLANE1 | Joubert syndrome 17, 614615 (3);Orofaciodigital syndrome VI, 277170 (3); | 614615;277170; |
CPLX1 | Epileptic encephalopathy, early infantile, 63, 617976 (3); | 617976; |
CRB1 | Leber congenital amaurosis 8, 613835 (3);Pigmented paravenous chorioretinal atrophy, 172870 (3);Retinitis pigmentosa-12, autosomal recessive, 600105 (3); | 613835;172870;600105; |
CRLF1 | Cold-induced sweating syndrome 1, 272430 (3); | 272430; |
CRX | Cone-rod retinal dystrophy-2, 120970 (3);Leber congenital amaurosis 7, 613829 (3); | 120970;613829; |
CTBP1 | Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome, 617915 (3); | 617915; |
CTC1 | Cerebroretinal microangiopathy with calcifications and cysts, 612199 (3); | 612199; |
CTH | Cystathioninuria, 219500 (3);Homocysteine, total plasma, elevated (3); | 219500; |
CTNND2 | ||
CYP27A1 | Cerebrotendinous xanthomatosis, 213700 (3); | 213700; |
DAO | ||
DAOA | {Schizophrenia}, 181500 (2); | 181500; |
DCC | Colorectal 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; |
DDB2 | Xeroderma pigmentosum, group E, DDB-negative subtype, 278740 (3); | 278740; |
DDOST | ?Congenital disorder of glycosylation, type Ir, 614507 (3); | 614507; |
DENND5A | Epileptic 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; |
DIS3L2 | Perlman syndrome, 267000 (3); | 267000; |
DISC1 | {Schizophrenia 9, susceptibility to}, 604906 (3); | 604906; |
DLGAP2 | ||
DLL4 | Adams-Oliver syndrome 6, 616589 (3); | 616589; |
DNAJC6 | Parkinson disease 19a, juvenile-onset, 615528 (3);Parkinson disease 19b, early-onset, 615528 (3); | 615528;615528; |
DNM1L | Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388 (3);Optic atrophy 5, 610708 (3); | 614388;610708; |
DOCK8 | Hyper-IgE recurrent infection syndrome, autosomal recessive, 243700 (3); | 243700; |
DOLK | Congenital disorder of glycosylation, type Im, 610768 (3); | 610768; |
DPYS | Dihydropyrimidinuria, 222748 (3); | 222748; |
DRD3 | {Essential tremor, hereditary, 1}, 190300 (3);{Schizophrenia, susceptibility to}, 181500 (3); | 190300;181500; |
DSTYK | Congenital anomalies of kidney and urinary tract 1, 610805 (3);Spastic paraplegia 23, 270750 (3); | 610805;270750; |
EARS2 | Combined 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; |
ECHS1 | Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, 616277 (3); | 616277; |
ECM1 | Urbach-Wiethe disease, 247100 (3); | 247100; |
EDN3 | Central 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; |
EIF2B1 | Leukoencephalopathy with vanishing white matter, 603896 (3); | 603896; |
EIF2B2 | Leukoencephalopathy with vanishing white matter, 603896 (3);Ovarioleukodystrophy, 603896 (3); | 603896;603896; |
EIF2B3 | Leukoencephalopathy with vanishing white matter, 603896 (3); | 603896; |
EIF2B4 | Leukoencephalopathy with vanishing white matter, 603896 (3);Ovarioleukodystrophy, 603896 (3); | 603896;603896; |
EIF2B5 | Leukoencephalopathy with vanishing white matter, 603896 (3);Ovarioleukodystrophy, 603896 (3); | 603896;603896; |
EIF2S3 | MEHMO syndrome, 300148 (3); | 300148; |
ELMO2 | Vascular malformation, primary intraosseous, 606893 (3); | 606893; |
ELN | Cutis laxa, autosomal dominant, 123700 (3);Supravalvar aortic stenosis, 185500 (3); | 123700;185500; |
ELP4 | ?Aniridia 2, 617141 (3); | 617141; |
EMG1 | Bowen-Conradi syndrome, 211180 (3); | 211180; |
EML1 | Band heterotopia, 600348 (3); | 600348; |
EOGT | Adams-Oliver syndrome 4, 615297 (3); | 615297; |
EPG5 | Vici syndrome, 242840 (3); | 242840; |
ERCC1 | Cerebrooculofacioskeletal 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; |
EVC2 | Ellis-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; |
EXTL3 | Immunoskeletal dysplasia with neurodevelopmental abnormalities, 617425 (3); | 617425; |
FAAH2 | ||
FAM111A | Gracile bone dysplasia, 602361 (3);Kenny-Caffey syndrome, type 2, 127000 (3); | 602361;127000; |
FAM20A | Amelogenesis imperfecta, type IG (enamel-renal syndrome), 204690 (3); | 204690; |
FASTKD2 | ?Mitochondrial complex IV deficiency, 220110 (3); | 220110; |
FGF12 | Epileptic encephalopathy, early infantile, 47, 617166 (3); | 617166; |
FGF8 | Hypogonadotropic 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; |
FLCN | Birt-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; |
FLI1 | Bleeding disorder, platelet-type, 21, 617443 (3); | 617443; |
FRG1 | ||
FRMPD4 | Mental retardation, X-linked 104, 300983 (3); | 300983; |
FTL | Hyperferritinemia-cataract syndrome, 600886 (3);L-ferritin deficiency, dominant and recessive, 615604 (3);Neurodegeneration with brain iron accumulation 3, 606159 (3); | 600886;615604;606159; |
G6PD | Hemolytic anemia, G6PD deficient (favism), 300908 (3);{Resistance to malaria due to G6PD deficiency}, 611162 (3); | 300908;611162; |
GABBR2 | Epileptic 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; |
GABRB1 | Epileptic encephalopathy, early infantile, 45, 617153 (3); | 617153; |
GABRB2 | Epileptic 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; |
GATA3 | Hypoparathyroidism, 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; |
GATA6 | Atrial 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; |
GBA | Gaucher 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; |
GCDH | Glutaricaciduria, type I, 231670 (3); | 231670; |
GCM2 | Hyperparathyroidism 4, 617343 (3);Hypoparathyroidism, familial isolated, 146200 (3); | 617343;146200; |
GDF6 | Klippel-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; |
GDNF | Central hypoventilation syndrome, 209880 (3);{Hirschsprung disease, susceptibility to, 3}, 613711 (3);{Pheochromocytoma, modifier of}, 171300 (3); | 209880;613711;171300; |
GFM1 | Combined oxidative phosphorylation deficiency 1, 609060 (3); | 609060; |
GJA1 | Atrioventricular 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; |
GLUL | Glutamine deficiency, congenital, 610015 (3); | 610015; |
GNAQ | Capillary malformations, congenital, 1, somatic, mosaic, 163000 (3);Sturge-Weber syndrome, somatic, mosaic, 185300 (3); | 163000;185300; |
GNB5 | Intellectual developmental disorder with cardiac arrhythmia, 617173 (3);Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, 617182 (3); | 617173;617182; |
GNE | Nonaka myopathy, 605820 (3);Sialuria, 269921 (3); | 605820;269921; |
GP1BB | Bernard-Soulier syndrome, type B, 231200 (3);Giant platelet disorder, isolated, 231200 (3); | 231200;231200; |
GPAA1 | Glycosylphosphatidylinositol biosynthesis defect 15, 617810 (3); | 617810; |
GPC4 | ||
GPSM2 | Chudley-McCullough syndrome, 604213 (3); | 604213; |
GRIA4 | Neurodevelopmental disorder with or without seizures and gait abnormalities, 617864 (3); | 617864; |
GRIN2D | Epileptic 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; |
GYS2 | Glycogen storage disease 0, liver, 240600 (3); | 240600; |
HADHA | Fatty 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; |
HADHB | Trifunctional protein deficiency, 609015 (3); | 609015; |
HECW2 | Neurodevelopmental 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; |
HGSNAT | Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930 (3);Retinitis pigmentosa 73, 616544 (3); | 252930;616544; |
HIBCH | 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620 (3); | 250620; |
HMBS | Porphyria, acute intermittent, 176000 (3);Porphyria, acute intermittent, nonerythroid variant, 176000 (3); | 176000;176000; |
HMGCL | HMG-CoA lyase deficiency, 246450 (3); | 246450; |
HNF1A | Diabetes 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; |
HNF1B | Diabetes mellitus, noninsulin-dependent, 125853 (3);Renal cysts and diabetes syndrome, 137920 (3);{Renal cell carcinoma}, 144700 (3); | 125853;137920;144700; |
HNF4A | Fanconi 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; |
HNRNPH2 | Mental 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; |
HTT | Huntington disease, 143100 (3);Lopes-Maciel-Rodan syndrome, 617435 (3);{Anxiety-related personality traits}, 607834 (3);{Obsessive-compulsive disorder}, 164230 (3); | 143100;617435;607834;164230; |
HYLS1 | Hydrolethalus syndrome, 236680 (3); | 236680; |
ICK | Endocrine-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; |
IFT140 | Retinitis pigmentosa 80, 617781 (3);Short-rib thoracic dysplasia 9 with or without polydactyly, 266920 (3); | 617781;266920; |
IMPA1 | Mental retardation, autosomal recessive 59, 617323 (3); | 617323; |
IMPDH1 | Leber congenital amaurosis 11, 613837 (3);Retinitis pigmentosa 10, 180105 (3); | 613837;180105; |
INPP5K | Muscular dystrophy, congenital, with cataracts and intellectual disability, 617404 (3); | 617404; |
INS | Diabetes 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; |
INSR | Diabetes 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 | ||
IQCB1 | Senior-Loken syndrome 5, 609254 (3); | 609254; |
ITGB6 | Amelogenesis imperfecta, type IH, 616221 (3); | 616221; |
ITPA | Epileptic 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; |
KCNJ1 | Bartter syndrome, type 2, 241200 (3); | 241200; |
KCNJ13 | Leber congenital amaurosis 16, 614186 (3);Snowflake vitreoretinal degeneration, 193230 (3); | 614186;193230; |
KCNQ1 | Atrial 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; |
KIAA0556 | Joubert syndrome 26, 616784 (3); | 616784; |
KIAA0586 | Joubert syndrome 23, 616490 (3);Short-rib thoracic dysplasia 14 with polydactyly, 616546 (3); | 616490;616546; |
KIAA1109 | Alkuraya-Kucinskas syndrome, 617822 (3); | 617822; |
KIF5A | Myoclonus, intractable, neonatal, 617235 (3);Spastic paraplegia 10, autosomal dominant, 604187 (3);{Amyotrophic lateral sclerosis, susceptibility to, 25}, 617921 (3); | 617235;604187;617921; |
KLHL15 | Mental retardation, X-linked 103, 300982 (3); | 300982; |
KLHL7 | Cold-induced sweating syndrome 3, 617055 (3);Retinitis pigmentosa 42, 612943 (3); | 617055;612943; |
KLLN | Cowden syndrome 4, 615107 (3); | 615107; |
LAGE3 | Galloway-Mowat syndrome 2, X-linked, 301006 (3); | 301006; |
LAMB1 | Lissencephaly 5, 615191 (3); | 615191; |
LARS | ?Infantile liver failure syndrome 1, 615438 (3); | 615438; |
LAS1L | Wilson-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; |
LCA5 | Leber congenital amaurosis 5, 604537 (3); | 604537; |
LETM1 | ||
LHX4 | Pituitary hormone deficiency, combined, 4, 262700 (3); | 262700; |
LMBRD1 | Methylmalonic aciduria and homocystinuria, cblF type, 277380 (3); | 277380; |
LMNA | Cardiomyopathy, 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; |
LRAT | Leber 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; |
LYST | Chediak-Higashi syndrome, 214500 (3); | 214500; |
MAF | Ayme-Gripp syndrome, 601088 (3);Cataract 21, multiple types, 610202 (3); | 601088;610202; |
MAFB | Duane retraction syndrome 3, 617041 (3);Multicentric carpotarsal osteolysis syndrome, 166300 (3); | 617041;166300; |
MAGI2 | Nephrotic syndrome 15, 617609 (3); | 617609; |
MAOB | ||
MAPK10 | ||
MAPT | Dementia, 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; |
MBOAT7 | Mental retardation, autosomal recessive 57, 617188 (3); | 617188; |
MCM8 | ?Premature ovarian failure 10, 612885 (3); | 612885; |
MDH2 | Epileptic 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; |
MEIS2 | Cleft palate, cardiac defects, and mental retardation, 600987 (3); | 600987; |
MFF | Encephalopathy due to defective mitochondrial and peroxisomal fission 2, 617086 (3); | 617086; |
MFSD2A | Microcephaly 15, primary, autosomal recessive, 616486 (3); | 616486; |
MGP | Keutel syndrome, 245150 (3); | 245150; |
MIPEP | Combined oxidative phosphorylation deficiency 31, 617228 (3); | 617228; |
MKRN3 | Precocious puberty, central, 2, 615346 (3); | 615346; |
MKS1 | Bardet-Biedl syndrome 13, 615990 (3);Joubert syndrome 28, 617121 (3);Meckel syndrome 1, 249000 (3); | 615990;617121;249000; |
MLH1 | Colorectal cancer, hereditary nonpolyposis, type 2, 609310 (3);Mismatch repair cancer syndrome, 276300 (3);Muir-Torre syndrome, 158320 (3); | 609310;276300;158320; |
MPC1 | Mitochondrial pyruvate carrier deficiency, 614741 (3); | 614741; |
MPO | Myeloperoxidase deficiency, 254600 (3);{Alzheimer disease, susceptibility to}, 104300 (3);{Lung cancer, protection against, in smokers} (3); | 254600;104300; |
MSH2 | Colorectal cancer, hereditary nonpolyposis, type 1, 120435 (3);Mismatch repair cancer syndrome, 276300 (3);Muir-Torre syndrome, 158320 (3); | 120435;276300;158320; |
MSH6 | Colorectal cancer, hereditary nonpolyposis, type 5, 614350 (3);Endometrial cancer, familial, 608089 (3);Mismatch repair cancer syndrome, 276300 (3); | 614350;608089;276300; |
MSX2 | Craniosynostosis 2, 604757 (3);Parietal foramina 1, 168500 (3);Parietal foramina with cleidocranial dysplasia, 168550 (3); | 604757;168500;168550; |
MTFMT | Combined oxidative phosphorylation deficiency 15, 614947 (3); | 614947; |
MTM1 | Myotubular myopathy, X-linked, 310400 (3); | 310400; |
MTO1 | Combined oxidative phosphorylation deficiency 10, 614702 (3); | 614702; |
MYH10 | ||
MYH11 | Aortic aneurysm, familial thoracic 4, 132900 (3); | 132900; |
MYH3 | Arthrogryposis, distal, type 2A, 193700 (3);Arthrogryposis, distal, type 2B, 601680 (3);Arthrogryposis, distal, type 8, 178110 (3); | 193700;601680;178110; |
NACC1 | Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination, 617393 (3); | 617393; |
NADK2 | ?2,4-dienoyl-CoA reductase deficiency, 616034 (3); | 616034; |
NARS2 | Combined oxidative phosphorylation deficiency 24, 616239 (3); | 616239; |
NAT8L | ?N-acetylaspartate deficiency, 614063 (3); | 614063; |
NDN | Prader-Willi syndrome, 176270 (3); | 176270; |
NDUFA10 | Leigh syndrome, 256000 (3); | 256000; |
NDUFA2 | Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3); | 256000; |
NDUFA9 | Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3); | 256000; |
NDUFAF6 | Leigh 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; |
NECTIN1 | Cleft lip/palate-ectodermal dysplasia syndrome, 225060 (3);Orofacial cleft 7, 225060 (3); | 225060;225060; |
NF2 | Meningioma, NF2-related, somatic, 607174 (3);Neurofibromatosis, type 2, 101000 (3);Schwannomatosis, somatic, 162091 (3); | 607174;101000;162091; |
NFKB2 | Immunodeficiency, common variable, 10, 615577 (3); | 615577; |
NIN | ?Seckel syndrome 7, 614851 (3); | 614851; |
NMNAT1 | Leber 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; |
NOTCH1 | Adams-Oliver syndrome 5, 616028 (3);Aortic valve disease 1, 109730 (3); | 616028;109730; |
NOTCH2 | Alagille 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 | ||
NPC1 | Niemann-Pick disease, type C1, 257220 (3);Niemann-Pick disease, type D, 257220 (3);{Nasopharyngeal carcinoma 1} (2); | 257220;257220; |
NPC2 | Niemann-pick disease, type C2, 607625 (3); | 607625; |
NPRL2 | Epilepsy, familial focal, with variable foci 2, 617116 (3); | 617116; |
NPRL3 | Epilepsy, familial focal, with variable foci 3, 617118 (3); | 617118; |
NTRK2 | Epileptic encephalopathy, early infantile, 58, 617830 (3);Obesity, hyperphagia, and developmental delay, 613886 (3); | 617830;613886; |
NUP107 | Nephrotic 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; |
ORAI1 | Immunodeficiency 9, 612782 (3);Myopathy, tubular aggregate, 2, 615883 (3); | 612782;615883; |
OSGEP | Galloway-Mowat syndrome 3, 617729 (3); | 617729; |
OTUD6B | Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, 617452 (3); | 617452; |
OTX2 | Microphthalmia, 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; |
PARN | Dyskeratosis congenita, autosomal recessive 6, 616353 (3);Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, 616371 (3); | 616353;616371; |
PARS2 | ||
PAX2 | Glomerulosclerosis, focal segmental, 7, 616002 (3);Papillorenal syndrome, 120330 (3); | 616002;120330; |
PCCA | Propionicacidemia, 606054 (3); | 606054; |
PCCB | Propionicacidemia, 606054 (3); | 606054; |
PCDH12 | Microcephaly, seizures, spasticity, and brain calcification, 251280 (3); | 251280; |
PCK1 | ?Phosphoenolpyruvate carboxykinase deficiency, cytosolic, 261680 (3); | 261680; |
PCLO | ?Pontocerebellar hypoplasia, type 3, 608027 (3); | 608027; |
PCYT1A | Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940 (3); | 608940; |
PDE10A | Dyskinesia, limb and orofacial, infantile-onset, 616921 (3);Striatal degeneration, autosomal dominant, 616922 (3); | 616921;616922; |
PDGFRB | Basal 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; |
PDHX | Lacticacidemia due to PDX1 deficiency, 245349 (3); | 245349; |
PGM3 | Immunodeficiency 23, 615816 (3); | 615816; |
PHKG2 | Cirrhosis due to liver phosphorylase kinase deficiency (3);Glycogen storage disease IXc, 613027 (3); | deficiency;613027; |
PHOX2B | Central 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; |
PIBF1 | Joubert syndrome 33, 617767 (3); | 617767; |
PIEZO1 | Dehydrated 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; |
PIGC | Glycosylphosphatidylinositol biosynthesis defect 16, 617816 (3); | 617816; |
PIGM | Glycosylphosphatidylinositol deficiency, 610293 (3); | 610293; |
PIGW | Glycosylphosphatidylinositol biosynthesis defect 11, 616025 (3); | 616025; |
PIK3CA | Breast 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; |
PLAU | Quebec platelet disorder, 601709 (3);{Alzheimer disease, late-onset, susceptibility to}, 104300 (3); | 601709;104300; |
PLEKHG2 | Leukodystrophy and acquired microcephaly with or without dystonia, 616763 (3); | 616763; |
PLG | Dysplasminogenemia, 217090 (3);Plasminogen deficiency, type I, 217090 (3); | 217090;217090; |
PLK4 | Microcephaly and chorioretinopathy, autosomal recessive, 2, 616171 (3); | 616171; |
PMS2 | Colorectal cancer, hereditary nonpolyposis, type 4, 614337 (3);Mismatch repair cancer syndrome, 276300 (3); | 614337;276300; |
POLA1 | Pigmentary disorder, reticulate, with systemic manifestations, X-linked, 301220 (3); | 301220; |
POLG2 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, 610131 (3); | 610131; |
PPP1R15B | Microcephaly, short stature, and impaired glucose metabolism 2, 616817 (3); | 616817; |
PPP3CA | Epileptic encephalopathy, infantile or early childhood, 1, 617711 (3); | 617711; |
PRDM16 | Cardiomyopathy, dilated, 1LL, 615373 (3);Left ventricular noncompaction 8, 615373 (3); | 615373;615373; |
PRDX1 | Methylmalonic aciduria and homocystinuria, cblC type, digenic, 277400 (3); | 277400; |
PREPL | ?Myasthenic syndrome, congenital, 22, 616224 (3); | 616224; |
PRF1 | Aplastic anemia, 609135 (3);Hemophagocytic lymphohistiocytosis, familial, 2, 603553 (3);Lymphoma, non-Hodgkin, 605027 (3); | 609135;603553;605027; |
PRKDC | Immunodeficiency 26, with or without neurologic abnormalities, 615966 (3); | 615966; |
PRMT7 | Short stature, brachydactyly, intellectual developmental disability, and seizures, 617157 (3); | 617157; |
PRNP | Cerebral 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; |
PROC | Thrombophilia due to protein C deficiency, autosomal dominant, 176860 (3);Thrombophilia due to protein C deficiency, autosomal recessive, 612304 (3); | 176860;612304; |
PROKR2 | Hypogonadotropic hypogonadism 3 with or without anosmia, 244200 (3); | 244200; |
PROP1 | Pituitary hormone deficiency, combined, 2, 262600 (3); | 262600; |
PROSC | Epilepsy, early-onset, vitamin B6-dependent, 617290 (3); | 617290; |
PSAT1 | ?Phosphoserine aminotransferase deficiency, 610992 (3);Neu-Laxova syndrome 2, 616038 (3); | 610992;616038; |
PSMB8 | Autoinflammation, lipodystrophy, and dermatosis syndrome, 256040 (3); | 256040; |
PSPH | Phosphoserine phosphatase deficiency, 614023 (3); | 614023; |
PTH | Hypoparathyroidism, autosomal dominant, 146200 (3);Hypoparathyroidism, autosomal recessive, 146200 (3); | 146200;146200; |
PWAR1 | ||
RAC1 | Mental retardation, autosomal dominant 48, 617751 (3); | 617751; |
RANBP2 | {Encephalopathy, acute, infection-induced, 3, susceptibility to}, 608033 (3); | 608033; |
RBFOX1 | ||
RBM8A | Thrombocytopenia-absent radius syndrome, 274000 (3); | 274000; |
RD3 | Leber congenital amaurosis 12, 610612 (3); | 610612; |
RDH12 | Leber congenital amaurosis 13, 612712 (3); | 612712; |
RECQL4 | Baller-Gerold syndrome, 218600 (3);RAPADILINO syndrome, 266280 (3);Rothmund-Thomson syndrome, 268400 (3); | 218600;266280;268400; |
REST | Fibromatosis, gingival, 5, 617626 (3);{Wilms tumor 6, susceptibility to}, 616806 (3); | 617626;616806; |
RET | Central 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; |
RNF125 | Tenorio syndrome, 616260 (3); | 616260; |
RNF213 | {Moyamoya disease 2, susceptibility to}, 607151 (3); | 607151; |
RPE65 | Leber congenital amaurosis 2, 204100 (3);Retinitis pigmentosa 20, 613794 (3); | 204100;613794; |
RPGRIP1 | Cone-rod dystrophy 13, 608194 (3);Leber congenital amaurosis 6, 613826 (3); | 608194;613826; |
RPIA | ?Ribose 5-phosphate isomerase deficiency, 608611 (3); | 608611; |
RTN4IP1 | Optic atrophy 10 with or without ataxia, mental retardation, and seizures, 616732 (3); | 616732; |
RTN4R | {Schizophrenia, susceptibility to}, 181500 (3); | 181500; |
RXYLT1 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, 615041 (3); | 615041; |
RYR1 | Central 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; |
SACS | Spastic ataxia, Charlevoix-Saguenay type, 270550 (3); | 270550; |
SAMD9 | MIRAGE 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; |
SCN3A | Epilepsy, familial focal, with variable foci 4, 617935 (3);Epileptic encephalopathy, early infantile, 62, 617938 (3); | 617935;617938; |
SCN4A | Hyperkalemic 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; |
SCN9A | Epilepsy, 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; |
SCO1 | Mitochondrial complex IV deficiency, 220110 (3); | 220110; |
SDHB | Cowden 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; |
SDHC | Gastrointestinal stromal tumor, 606764 (3);Paraganglioma and gastric stromal sarcoma, 606864 (3);Paragangliomas 3, 605373 (3); | 606764;606864;605373; |
SDHD | Carcinoid 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; |
SEC23B | Cowden syndrome 7, 616858 (3);Dyserythropoietic anemia, congenital, type II, 224100 (3); | 616858;224100; |
SLC12A1 | Bartter syndrome, type 1, 601678 (3); | 601678; |
SLC12A5 | Epileptic encephalopathy, early infantile, 34, 616645 (3);{Epilepsy, idiopathic generalized, susceptibility to, 14}, 616685 (3); | 616645;616685; |
SLC18A3 | Myasthenic syndrome, congenital, 21, presynaptic, 617239 (3); | 617239; |
SLC19A2 | Thiamine-responsive megaloblastic anemia syndrome, 249270 (3); | 249270; |
SLC1A2 | Epileptic encephalopathy, early infantile, 41, 617105 (3); | 617105; |
SLC1A3 | Episodic ataxia, type 6, 612656 (3); | 612656; |
SLC20A2 | Basal ganglia calcification, idiopathic, 1, 213600 (3); | 213600; |
SLC25A19 | Microcephaly, Amish type, 607196 (3);Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710 (3); | 607196;613710; |
SLC25A20 | Carnitine-acylcarnitine translocase deficiency, 212138 (3); | 212138; |
SLC25A46 | Neuropathy, hereditary motor and sensory, type VIB, 616505 (3); | 616505; |
SLC26A4 | Deafness, autosomal recessive 4, with enlarged vestibular aqueduct, 600791 (3);Pendred syndrome, 274600 (3); | 600791;274600; |
SLC35A1 | Congenital disorder of glycosylation, type IIf, 603585 (3); | 603585; |
SLC35A3 | ?Arthrogryposis, mental retardation, and seizures, 615553 (3); | 615553; |
SLC36A2 | Hyperglycinuria, 138500 (3);Iminoglycinuria, digenic, 242600 (3); | 138500;242600; |
SLC3A1 | Cystinuria, 220100 (3); | 220100; |
SLC45A1 | Intellectual developmental disorder with neuropsychiatric features, 617532 (3); | 617532; |
SLC46A1 | Folate malabsorption, hereditary, 229050 (3); | 229050; |
SLC4A10 | ||
SLC52A2 | Brown-Vialetto-Van Laere syndrome 2, 614707 (3); | 614707; |
SLC52A3 | ?Fazio-Londe disease, 211500 (3);Brown-Vialetto-Van Laere syndrome 1, 211530 (3); | 211500;211530; |
SLC5A7 | Myasthenic syndrome, congenital, 20, presynaptic, 617143 (3);Neuronopathy, distal hereditary motor, type VIIA, 158580 (3); | 617143;158580; |
SLC6A19 | Hartnup disorder, 234500 (3);Hyperglycinuria, 138500 (3);Iminoglycinuria, digenic, 242600 (3); | 234500;138500;242600; |
SLC6A20 | Hyperglycinuria, 138500 (3);Iminoglycinuria, digenic, 242600 (3); | 138500;242600; |
SLC6A5 | Hyperekplexia 3, 614618 (3); | 614618; |
SLC6A9 | Glycine encephalopathy with normal serum glycine, 617301 (3); | 617301; |
SLC9A1 | ?Lichtenstein-Knorr syndrome, 616291 (3); | 616291; |
SLC9A9 | {?Autism susceptibility 16}, 613410 (3); | 613410; |
SMARCAL1 | Schimke immunoosseous dysplasia, 242900 (3); | 242900; |
SMG9 | Heart and brain malformation syndrome, 616920 (3); | 616920; |
SNAP25 | ?Myasthenic syndrome, congenital, 18, 616330 (3); | 616330; |
SPAST | Spastic paraplegia 4, autosomal dominant, 182601 (3); | 182601; |
SPATA7 | Leber congenital amaurosis 3, 604232 (3);Retinitis pigmentosa, juvenile, autosomal recessive, 604232 (3); | 604232;604232; |
SPINK5 | Netherton syndrome, 256500 (3); | 256500; |
SPR | Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716 (3); | 612716; |
SRGAP2 | ||
SSR4 | Congenital disorder of glycosylation, type Iy, 300934 (3); | 300934; |
STAT3 | Autoimmune disease, multisystem, infantile-onset, 1, 615952 (3);Hyper-IgE recurrent infection syndrome, 147060 (3); | 615952;147060; |
STRADA | Polyhydramnios, megalencephaly, and symptomatic epilepsy, 611087 (3); | 611087; |
STS | Ichthyosis, X-linked, 308100 (3); | 308100; |
STUB1 | Spinocerebellar ataxia, autosomal recessive 16, 615768 (3); | 615768; |
STX11 | Hemophagocytic lymphohistiocytosis, familial, 4, 603552 (3); | 603552; |
SUMF1 | Multiple sulfatase deficiency, 272200 (3); | 272200; |
SYN2 | {Schizophrenia, susceptibility to}, 181500 (3); | 181500; |
SYNJ1 | Epileptic encephalopathy, early infantile, 53, 617389 (3);Parkinson disease 20, early-onset, 615530 (3); | 617389;615530; |
SYT2 | Myasthenic syndrome, congenital, 7, presynaptic, 616040 (3); | 616040; |
TACO1 | Mitochondrial complex IV deficiency, 220110 (3); | 220110; |
TANGO2 | Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, 616878 (3); | 616878; |
TBCD | Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, 617193 (3); | 617193; |
TBP | Spinocerebellar ataxia 17, 607136 (3);{Parkinson disease, susceptibility to}, 168600 (3); | 607136;168600; |
TBX1 | Conotruncal 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; |
TECPR2 | Spastic paraplegia 49, autosomal recessive, 615031 (3); | 615031; |
TGDS | Catel-Manzke syndrome, 616145 (3); | 616145; |
TIMMDC1 | Mitochondrial 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; |
TMEM106B | Leukodystrophy, hypomyelinating, 16, 617964 (3); | 617964; |
TMEM126B | Mitochondrial complex I deficiency, 252010 (3); | 252010; |
TMEM138 | Joubert syndrome 16, 614465 (3); | 614465; |
TMEM216 | Joubert syndrome 2, 608091 (3);Meckel syndrome 2, 603194 (3); | 608091;603194; |
TMTC3 | Lissencephaly 8, 617255 (3); | 617255; |
TNK2 | ||
TOE1 | Pontocerebellar hypoplasia, type 7, 614969 (3); | 614969; |
TP53RK | Galloway-Mowat syndrome 4, 617730 (3); | 617730; |
TPK1 | Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458 (3); | 614458; |
TPRKB | Galloway-Mowat syndrome 5, 617731 (3); | 617731; |
TRAPPC6B | Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, 617862 (3); | 617862; |
TRIP13 | Mosaic variegated aneuploidy syndrome 3, 617598 (3); | 617598; |
TRNT1 | Retinitis 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; |
TSEN15 | Pontocerebellar hypoplasia, type 2F, 617026 (3); | 617026; |
TSFM | Combined oxidative phosphorylation deficiency 3, 610505 (3); | 610505; |
TULP1 | Leber congenital amaurosis 15, 613843 (3);Retinitis pigmentosa 14, 600132 (3); | 613843;600132; |
TXN2 | ?Combined oxidative phosphorylation deficiency 29, 616811 (3); | 616811; |
UBA1 | Spinal 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; |
UBB | Cleft palate, isolated, 119540 (2); | 119540; |
UCP2 | {Obesity, susceptibility to, BMIQ4}, 607447 (3); | 607447; |
UGT1A1 | Crigler-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; |
VAMP1 | Spastic ataxia 1, autosomal dominant, 108600 (3); | 108600; |
VARS | Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy, 617802 (3); | 617802; |
VARS2 | Combined oxidative phosphorylation deficiency 20, 615917 (3);Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy, 617802 (3); | 615917;617802; |
VCP | Amyotrophic 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; |
VPS11 | Leukodystrophy, hypomyelinating, 12, 616683 (3); | 616683; |
WARS2 | Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, 617710 (3); | 617710; |
WDR11 | Hypogonadotropic 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; |
XPC | Xeroderma pigmentosum, group C, 278720 (3); | 278720; |
YWHAG | Epileptic encephalopathy, early infantile, 56, 617665 (3); | 617665; |
ZC4H2 | Wieacker-Wolff syndrome, 314580 (3); | 314580; |
ZFP57 | Diabetes mellitus, transient neonatal, 1, 601410 (3); | 601410; |
ZNF423 | Joubert syndrome 19, 614844 (3);Nephronophthisis 14, 614844 (3); | 614844;614844; |
ZNHIT3 | PEHO syndrome, 260565 (3); | 260565; |