disease | gene |
---|
Epilepsy | a2bp1 |
Mental retardation | a2bp1 |
Chronic obstructive pulmonary disease | A2M |
Pk synthase deficiency (p phenotype) | A4GALT |
Triple-A syndrome | AAAS |
Hyperlysinaemia | AASS |
GABA-transaminase deficiency | ABAT |
Scott syndrome | ABCA1 |
Tangier disease | ABCA1 |
HDL deficiency | ABCA1 |
Ichthyosis, lamellar, type 2 | ABCA12 |
Ichthyosis, harlequin | ABCA12 |
Fatal surfactant deficiency | ABCA3 |
Cone-rod dystrophy | ABCA4 |
Retinitis pigmentosa | ABCA4 |
Retinal dystrophy | ABCA4 |
Cone-rod degeneration | ABCA4 |
Fundus flavimaculatus | ABCA4 |
Stargardt disease | ABCA4 |
Stargardt disease and macular degeneration | ABCA4 |
Fundus flavimaculatus, late onset | ABCA4 |
Macular degeneration, age related | ABCA4 |
Intrahepatic cholestasis of pregnancy | ABCB11 |
Intrahepatic cholestasis, familial benign | ABCB11 |
Intrahepatic cholestasis, familial progressive 2 | ABCB11 |
Intrahepatic cholestasis of pregnancy | ABCB4 |
Low phospholipid associated cholelithiasis | ABCB4 |
Intrahepatic cholestasis, familial progressive | ABCB4 |
Sideroblastic anaemia and ataxia | ABCB7 |
Dubin-Johnson syndrome | ABCC2 |
Methotrexate elimination, impaired | ABCC2 |
Pseudoxanthoma elasticum, autosomal dominant | ABCC6 |
Pseudoxanthoma elasticum, autosomal recessive | ABCC6 |
Pseudoxanthoma elasticum | ABCC6 |
Hypoglycaemia, persistent hyperinsulinaemic | ABCC8 |
Hyperinsulinism and Usher syndrome | ABCC8 |
Diabetes, neonatal | ABCC8 |
Hyperinsulinism | ABCC8 |
Cardiomyopathy, dilated | ABCC9 |
Adrenomyeloneuropathy | ABCD1 |
Addison disease | ABCD1 |
Adrenoleukodystrophy | ABCD1 |
Zellweger syndrome | ABCD3 |
Sitosterolaemia | ABCG5 |
Sitosterolaemia | ABCG8 |
Chanarin-Dorfman syndrome | ABHD5 |
Isobutyryl-CoA dehydrogenase deficiency | ACAD8 |
Medium chain acyl CoA dehydrogenase deficiency | ACADM |
Acyl-CoA-dehydrogenase deficiency | ACADS |
2-Methylbutyryl-CoA dehydrogenase deficiency | ACADSB |
Very long chain acyl-CoA dehydrogenase deficiency | ACADVL |
Spondyloepiphyseal dysplasia, Kimberley type | ACAN |
Acetoacetyl-CoA-thiolase deficiency | ACAT1 |
Renal tubular dysgenesis | ACE |
Mental retardation, X-linked | ACSL4 |
Congenital myopathy with fibre-type disproportion | ACTA1 |
Core myopathy | ACTA1 |
Nemaline myopathy | ACTA1 |
Actin myopathy | ACTA1 |
Nemaline myopathy and hypertrophic cardiomyopathy | ACTA1 |
Developmental malformations, sensory hearing loss & dystonia | ACTB |
Neutrophil dysfunction and recurrent infection | ACTB |
Cardiomyopathy, dilated | ACTC1 |
Cardiomyopathy, hypertrophic | ACTC1 |
Deafness, dominant progressive | ACTG1 |
Cardiomyopathy, dilated | ACTN2 |
Glomerulosclerosis, focal and segmental | ACTN4 |
Fibrodysplasia ossificans progressiva | ACVR1 |
Left-right axis malformation | ACVR2B |
Haemorrhagic telangiectasia 2 | ACVRL1 |
Pulmonary hypertension, primary | ACVRL1 |
Pituitary cancer | ACVRL1 |
Aminoacylase I deficiency | ACY1 |
Adenosine deaminase deficiency | ADA |
Weill-Marchesani syndrome | ADAMTS10 |
Upshaw-Schulman syndrome | ADAMTS13 |
Thrombotic thrombocytopaenic purpura | ADAMTS13 |
Ehlers-Danlos syndrome VIIc | ADAMTS2 |
Dyschromatosis symmetrica hereditaria | ADAR |
Adiponectin deficiency | ADIPOQ |
Adenylosuccinate lyase deficiency | ADSL |
Mental retardation / autism | ADSL |
Premature ovarian failure | AFF2 |
Fragile site, FRAXE | AFF2 |
Hereditary persistence of alpha-fetoprotein | AFP |
Alpha-fetoprotein deficiency | AFP |
Aspartylglucosaminuria | AGA |
Klippel-Trenaunay syndrome | AGGF1 |
Glycogen storage disease 3a | AGL |
Glycogen storage disease 3 | AGL |
Glycogen storage disease 3d | AGL |
Berardinelli-Seip lipodystrophy | AGPAT2 |
Alkyl-DHAP synthase deficiency | AGPS |
Preeclampsia | AGT |
Renal tubular dysgenesis | AGT |
Hypertension | AGT |
Renal tubular dysgenesis | AGTR1 |
Mental retardation, X-linked | AGTR2 |
Hyperoxaluria | AGXT |
S-adenosylhomocysteine hydrolase deficiency | AHCY |
Joubert syndrome | AHI1 |
Hyper-IgM syndrome | AICDA |
Pituitary adenoma | AIP |
Cone-rod dystrophy | AIPL1 |
Leber congenital amaurosis IV | AIPL1 |
APECED | AIRE |
Addison disease with autoimmune thyroiditis | AIRE |
Adenylate kinase deficiency | AK1 |
Diabetes mellitus, without diabetic complications | AKR1B1 |
Cholestatic liver disease in infancy | AKR1D1 |
Severe insulin resistance and diabetes mellitus | AKT2 |
ALAD deficiency | ALAD |
Porphyria, acute intermittent | ALAD |
Sideroblastic anaemia | ALAS2 |
Severe iron overload | ALAS2 |
Analbuminaemia | ALB |
Dysalbuminaemic hyperthyroxinaemia, familial | ALB |
Hyperammonaemia | ALDH18A1 |
Sjoegren-Larsson syndrome | ALDH3A2 |
Hyperprolinaemia 2 | ALDH4A1 |
SSADH deficiency with D-2-hydroxyglutaric aciduria | ALDH5A1 |
Succinic semialdehyde dehydrogenase deficiency | ALDH5A1 |
MMSDH deficiency | ALDH6A1 |
Epilepsy, pyridoxine-dependent | ALDH7A1 |
Metabolic myopathy / haemolysis | ALDOA |
Aldolase A deficiency | ALDOA |
Aldolase B deficiency | ALDOB |
Fructose intolerance | ALDOB |
Congenital disorder of glycosylation 1k | ALG1 |
Congenital disorder of glycosylation 1g | ALG12 |
Congenital disorder of glycosylation 1i | ALG2 |
Congenital disorder of glycosylation 1d | ALG3 |
Congenital disorder of glycosylation 1c | ALG6 |
Congenital disorder of glycosylation 1c, mild | ALG6 |
Congenital disorder of glycosylation 1h | ALG8 |
Congenital disorder of glycosylation 1l | ALG9 |
Alstrom syndrome | ALMS1 |
Ichthyosiform erythroderma, nonbullous 1 | ALOX12B |
Ichthyosis, congenital, autosomal recessive | ALOX12B |
Ichthyosis, congenital, autosomal recessive | ALOXE3 |
Ichthyosiform erythroderma, nonbullous 1 | ALOXE3 |
Hypophosphatasia | ALPL |
Spastic paralysis, infantile-onset | ALS2 |
Primary lateral sclerosis, juvenile | ALS2 |
Spastic paraplegia | ALS2 |
Amyotrophic lateral sclerosis | ALS2 |
Foramina parietalia permagna | ALX4 |
Alpha methylacyl CoA racemase deficiency | AMACR |
Amelogenesis imperfecta | AMELX |
Oligozoospermia | AMELY |
Persistent Mullerian ducts syndrome | AMH |
Persistent Mullerian ducts syndrome | AMHR2 |
Megablastic anaemia | AMN |
Adenosine monophosphate deaminase deficiency | AMPD1 |
Adenosine monophosphate deaminase deficiency | AMPD3 |
Hyperglycinaemia, non-ketotic | AMT |
Amyotrophic lateral sclerosis | ANG |
Spherocytosis | ANK1 |
Cardiac arrhythmia | ANK2 |
Long QT syndrome | ANK2 |
Chondrocalcinosis 2 | ANKH |
Craniometaphyseal dysplasia | ANKH |
Cerebral palsy | ANKRD15 |
Hyalinosis, infantile systemic | ANTXR2 |
Fibromatosis, juvenile hyaline | ANTXR2 |
Hermansky-Pudlak syndrome | AP3B1 |
Desmoid tumours | APC |
Adenomatous polyposis coli, attenuated | APC |
Thyroid cancer | APC |
Adenomatous polyposis coli and CHRPE | APC |
Adenomatous polyposis coli | APC |
Colorectal cancer | APC |
Atherosclerosis with coronary artery disease | APOA1 |
HDL deficiency | APOA1 |
Amyloidosis, cardiac and cutaneous | APOA1 |
Hypoalphalipoproteinaemia | APOA1 |
Amyloidotic polyneuropathy | APOA1 |
HDL deficiency with periorbital xanthelasmas | APOA1 |
Amyloidosis, cardiac and systemic | APOA1 |
Amyloidosis | APOA1 |
Apolipoprotein A1 deficiency | APOA1 |
Amyloidosis, hepatic and systemic | APOA1 |
Apolipoprotein A2 deficiency | APOA2 |
Arteriosclerosis | APOA4 |
Hyperlipidaemia | APOA4 |
Hypertriglyceridaemia | APOA5 |
Apolipoprotein B deficiency | APOB |
Hypobetalipoproteinaemia | APOB |
Hypercholesterolaemia | APOB |
Hypocholesterolaemia | APOB |
Apolipoprotein C2 deficiency | APOC2 |
Chylomicronemia syndrome | APOC2 |
Apolipoprotein C3 deficiency | APOC3 |
Hypertriglyceridaemia | APOE |
Diabetes mellitus, type 2 | APOE |
Hyperlipoproteinaemia III | APOE |
Hyperlipoproteinaemia | APOE |
Hyperlipidaemia 3 | APOE |
Hyperlipidaemia | APOE |
Splenomegaly | APOE |
Hypertension | APOE |
Lipoprotein glomerulopathy | APOE |
Apolipoprotein E deficiency | APOE |
Alzheimer disease with cerebral amyloid angiopathy | APP |
Cerebral haemorrhage | APP |
Cerebral amyloid angiopathy | APP |
Schizophrenia | APP |
Alzheimer disease | APP |
Adenine phosphoribosyltransferase deficiency | APRT |
Ataxia-ocular apraxia 1 | APTX |
Channel-forming integral protein deficiency | AQP1 |
Diabetes insipidus, nephrogenic | AQP2 |
Aquaporin 3 deficiency | AQP3 |
Infertility, idiopathic | AR |
Defective spermatogenesis | AR |
Androgen insensitivity syndrome & Leydig cell hyperplasia | AR |
Breast cancer, male | AR |
Hypospadias | AR |
Androgen insensitivity syndrome | AR |
Prostate cancer | AR |
Pseudohermaphroditism, male | AR |
Infertility, male | AR |
Spino-bulbar muscular atrophy (Kennedy disease) | AR |
Reifenstein syndrome | AR |
Periventricular heterotopia with microcephaly | ARFGEF2 |
Argininaemia | ARG1 |
Hyperargininaemia | ARG1 |
Arginase deficiency | ARG1 |
Slowed nerve conduction velocities | ARHGEF10 |
Mental retardation, X-linked | ARHGEF6 |
Bardet-Biedl syndrome | ARL6 |
Metachromatic leukodystrophy | ARSA |
Mucopolysaccharidosis VI | ARSB |
Chondrodysplasia punctata | ARSE |
Brachytelephalangic dwarfism | ARSE |
Chondrodysplasia punctata, X-linked | ARSE |
Mental retardation and epilepsy | ARX |
Lissencephaly, X-linked, with abnormal genitalia | ARX |
Infantile spasm syndrome, X-linked | ARX |
ACC, epilepsy, abnormal genitalia | ARX |
Mental retardation | ARX |
ACC, lissencephaly, seizures & genital hypoplasia | ARX |
Farber disease | ASAH1 |
Central hypoventilation syndrome | ASCL1 |
Argininosuccinate lyase deficiency, variant | ASL |
Argininosuccinate lyase deficiency | ASL |
Incr. N-acetylaspartic acid excr. and macrocephaly | ASPA |
Canavan disease | ASPA |
Primary microcephaly | ASPM |
Citrullinaemia | ASS1 |
Polycystic kidney disease 1 | ASS1 |
Cerebellar ataxia, Cayman type | ATCAY |
AICA-Ribosiduria | ATIC |
Mantle cell lymphoma | ATM |
Acute lymphoblastic leukaemia | ATM |
Ataxia telangiectasia | ATM |
Breast cancer, susceptibility to | ATM |
Multiple cancers | ATM |
Dentatorubro-pallidoluysian atrophy (Haw river) | ATN1 |
Angelman syndrome | ATP10A |
Specific language impairment | ATP13A4 |
Migraine | ATP1A2 |
Hemiplegic migraine 2 | ATP1A2 |
Dystonia 12 | ATP1A3 |
Brody myopathy | ATP2A1 |
Acrokeratosis verruciformis | ATP2A2 |
Darier disease | ATP2A2 |
Diabetes, type 2 | ATP2A3 |
Hailey-Hailey disease | ATP2C1 |
Mental retardation and epilepsy, X-linked | ATP6AP2 |
Distal renal tubular acidosis, autosomal recessive | ATP6V0A4 |
Renal tubular acidosis, sensorineural deafness | ATP6V1B1 |
Osteopetrosis with distal RTA | ATP6V1B1 |
Menkes syndrome | ATP7A |
Occipital horn syndrome | ATP7A |
Wilson disease | ATP7B |
Intrahepatic cholestasis, benign recurrent | ATP8B1 |
Intrahepatic cholestasis of pregnancy | ATP8B1 |
Intrahepatic cholestasis, Greenland type | ATP8B1 |
Intrahepatic cholestasis, familial progressive | ATP8B1 |
Complex V deficiency | ATPAF2 |
Seckel syndrome | ATR |
ATRX syndrome, atypical | ATRX |
Carpenter-Waziri syndrome | ATRX |
ATRX syndrome | ATRX |
Juberg-Marsidi syndrome | ATRX |
Mental retardation without alpha thalassaemia | ATRX |
Mental retardation and spastic paraplegia | ATRX |
Spinocerebellar ataxia 1 | ATXN1 |
Spinocerebellar ataxia 10 | ATXN10 |
Spinocerebellar ataxia 2 | ATXN2 |
Machado-Joseph disease | ATXN3 |
Spinocerebellar ataxia 7 | ATXN7 |
Spinocerebellar ataxia 8 | ATXN8OS |
3-methylglutaconic aciduria type 1 | AUH |
Autism | AUTS2 |
Diabetes insipidus, neurohypophyseal | AVP |
Diabetes insipidus, central | AVP |
Diabetes insipidus, nephrogenic | AVPR2 |
Colorectal adenoma | AXIN1 |
Colorectal cancer | AXIN2 |
Tooth agenesis and colorectal cancer | AXIN2 |
Azoospermia | AZF1 |
Hypercatabolic hypoproteinaemia, familial | B2M |
B3GALNT1 deficiency (P1K phenotype) | B3GALNT1 |
B3GALNT1 deficiency (P2K phenotype) | B3GALNT1 |
Congenital disorder of glycosylation 2d | B4GALT1 |
Ehlers-Danlos syndrome, progeroid type | B4GALT7 |
Hypercholanaemia | BAAT |
Breast and/or ovarian cancer | BARD1 |
Breast cancer | BARD1 |
Ovarian cancer | BARD1 |
Bardet-Biedl syndrome | BBS1 |
Bardet-Biedl syndrome | BBS10 |
Bardet-Biedl syndrome | BBS2 |
Bardet-Biedl syndrome | BBS4 |
Bardet-Biedl syndrome | BBS5 |
Bardet-Biedl syndrome | BBS7 |
Bardet-Biedl syndrome | BBS9 |
Butyrylcholinesterase deficiency | BCHE |
Acholinesterasaemia | BCHE |
Hypocholinesterasaemia | BCHE |
Cholinesterasaemia | BCHE |
Serum cholinesterase deficiency | BCHE |
Maple syrup urine disease | BCKDHA |
Maple syrup urine disease | BCKDHB |
Oculofaciocardiodental syndrome | BCOR |
Microphthalmia with associated anomalies | BCOR |
Complex 3 deficiency | BCS1L |
GRACILE syndrome | BCS1L |
Adult vitelliform maculopathy | BEST1 |
Nanophthalmos and retinal dystrophy | BEST1 |
Macular degeneration, age related | BEST1 |
Leber congenital amaurosis | BEST1 |
Adult vitelliform macular dystrophy | BEST1 |
"Bulls eye" maculopathy | BEST1 |
Best macular dystrophy | BEST1 |
Congenital cataract | BFSP2 |
Cataract, progressive, juvenile onset | BFSP2 |
Bloom syndrome | BLM |
Hypogammaglobulinaemia | BLNK |
Hermansky-Pudlak syndrome | BLOC1S3 |
Premature ovarian failure | BMP15 |
Premature ovarian failure & amenorrhoea | BMP15 |
Polyposis, juvenile intestinal | BMPR1A |
Mixed polyposis syndrome | BMPR1A |
Juvenile polyposis syndrome | BMPR1A |
Multiple adenoma | BMPR1A |
Cowden / Bannayan-Riley-Ruvalcaba syndromes | BMPR1A |
Brachydactyly type A2 | BMPR1B |
Acromesomelic chondrodysplasia, genital anomalies | BMPR1B |
Pulmonary hypertension, primary | BMPR2 |
Bisphosphoglycerate mutase deficiency | BPGM |
Cardio-facio-cutaneous syndrome | BRAF |
Ovarian cancer | BRCA1 |
Breast and/or ovarian cancer | BRCA1 |
Breast and colorectal cancer | BRCA1 |
Neuronal migration defect | BRCA1 |
Breast cancer | BRCA1 |
Prostate cancer | BRCA1 |
Fanconi anaemia D1 | BRCA2 |
Prostate cancer | BRCA2 |
Fanconi anaemia | BRCA2 |
Liver cancer | BRCA2 |
Breast cancer, male | BRCA2 |
Fallopian tube cancer | BRCA2 |
Breast and/or ovarian cancer | BRCA2 |
Ductal carcinoma in situ | BRCA2 |
Ocular melanoma | BRCA2 |
Ovarian cancer | BRCA2 |
Pancreatic cancer | BRCA2 |
Breast cancer | BRCA2 |
Breast cancer | BRIP1 |
Fanconi anaemia | BRIP1 |
Spinal muscular atrophy, distal | BSCL2 |
Berardinelli-Seip lipodystrophy | BSCL2 |
Bartter syndrome with sensorineural deafness | BSND |
Biotinidase deficiency | BTD |
Biotinidase deficiency, partial | BTD |
Agammaglobulinaemia | BTK |
Hyper-IgM syndrome | BTK |
Mosaic variegated aneuploidy | BUB1B |
Premature chromatid separation syndrome | BUB1B |
Progressive external ophthalmoplegia | C10orf2 |
Spirocerebellar ataxia, infantile onset | C10orf2 |
C1Q deficiency, type A | C1QA |
C1Q deficiency, type B | C1QB |
C1Q deficiency, type C | C1QC |
Retinal degeneration, late-onset | C1QTNF5 |
Complement C1S deficiency | C1S |
Complement C2 deficiency | C2 |
Complement C3 deficiency | C3 |
Complement C4a deficiency | C4A |
Complement C4b deficiency | C4B |
Systemic lupus erythematosus | C4B |
Complement C5 deficiency | C5 |
Complement C6 deficiency, subtotal | C6 |
Complement C6 deficiency | C6 |
Complement C7 deficiency | C7 |
Trichothiodystrophy, nonphotosensitive | C7orf11 |
Complement C8 alpha-gamma deficiency | C8A |
Complement C8b deficiency | C8B |
Complement C9 deficiency | C9 |
Carbonic anhydrase deficiency | CA1 |
Carbonic anhydrase deficiency | CA2 |
Neurofibromatosis 2 | cabin1 |
Schwannomatosis | cabin1 |
Night blindness, autosomal recessive | CABP4 |
Hemiplegic migraine and ataxia | CACNA1A |
Spinocerebellar ataxia 6 | CACNA1A |
Hemiplegic migraine and episodic ataxia 2 | CACNA1A |
Hemiplegic migraine, progressive cerebellar ataxia | CACNA1A |
Episodic ataxia | CACNA1A |
Episodic ataxia 2 | CACNA1A |
Hemiplegic migraine, coma, cerebellar atrophy | CACNA1A |
Hemiplegic migraine with cerebellar signs | CACNA1A |
Hemiplegic migraine | CACNA1A |
Timothy syndrome | CACNA1C |
Night blindness, congenital stationary, incomplete | CACNA1F |
Cone-rod dystrophy, X-linked | CACNA1F |
Retinal disorder, X-linked | CACNA1F |
Epilepsy, childhood absence | CACNA1H |
Hypokalaemic periodic paralysis | CACNA1S |
Malignant hyperthermia | CACNA1S |
Idiopathic epilepsy, generalised | CACNB4 |
Myoclonic epilepsy, juvenile | CACNB4 |
Schizophrenia | CACNG2 |
Osteoporosis | CALCA |
Schizophrenia | CALR |
Idiopathic eosinophilic myositis | CAPN3 |
Muscular dystrophy, limb girdle | CAPN3 |
Myopathy with lobulated muscle fibres | CAPN3 |
Obesity, severe | CARTPT |
Autoimmune lymphoproliferative syndrome II | CASP10 |
Caspase 8 deficiency | CASP8 |
Ventricular tachycardia, polymorphic | CASQ2 |
Hyperparathyroidism | CASR |
Hypocalcaemia with hypercalciuria | CASR |
Hypercalcaemia, hypocalciuric & hyperparathyroidism | CASR |
Hypercalcaemia, hypocalciuric | CASR |
Hypercalcaemia, hypocalciuric & hypoparathyroidism | CASR |
Hypoparathyroidism | CASR |
Hypocalcaemia | CASR |
Hypercalcaemia and hypercalciuria | CASR |
Acatalasaemia | CAT |
Diabetes mellitus, type 2 | CAT |
Asthenoteratozoospermia & deafness, non-syndromic | CATSPER2 |
Myopathy | CAV3 |
Isolated hyperCKaemia | CAV3 |
Muscular dystrophy, limb girdle | CAV3 |
Rippling muscle disease | CAV3 |
Hypertrophic cardiomyopathy | CAV3 |
Various skeletal abnormalities | CBFB |
Homocystinuria | CBS |
Mental retardation, non-syndromic | CC2D1A |
Cerebral cavernous malformations | CCM2 |
Mutilating sensory neuropathy with sp. paraplegia | CCT5 |
nb1 deficiency | CD177 |
Hypogammaglobulinemia | CD19 |
Birbeck granules deficiency | CD207 |
Immunodeficiency, T-cell defect | CD247 |
Glomerulosclerosis, focal segmental | CD2AP |
Platelet glycoprotein IV deficiency | CD36 |
CD36 deficiency | CD36 |
Immunodeficiency, severe combined | CD3D |
Immunodeficiency | CD3E |
Immunodeficiency | CD3G |
Hyper-IgM syndrome | CD40 |
Hypogammaglobulinaemia | CD40LG |
Hyper-IgM syndrome | CD40LG |
Haemolytic uraemic syndrome | CD46 |
CD59 deficiency | CD59 |
Agammaglobulinaemia | CD79A |
CD8 deficiency | CD8A |
Congenital dysorythropoietic anaemia type 1 | CDAN1 |
Hyperparathyroidism, isolated | CDC73 |
Hyperparathyroidism-jaw tumour syndrome | CDC73 |
Parathyroid cancer | CDC73 |
Gastric cancer | CDH1 |
Breast cancer | CDH1 |
Prostate cancer | CDH1 |
Usher syndrome 1d | CDH23 |
Non-syndromic autosomal recessive deafness | CDH23 |
Hypotrichosis with juvenile macular dystrophy | CDH3 |
EEM syndrome | CDH3 |
Melanoma | CDK4 |
Rett syndrome, variant, with infantile spasms | CDKL5 |
Mental retardation and epilepsy | CDKL5 |
Rett syndrome, atypical | CDKL5 |
Acute lymphoblastic leukaemia | CDKN1B |
Myeloproliferative syndrome | CDKN1B |
Beckwith-Wiedemann syndrome | CDKN1C |
Melanoma/Pancreatic cancer | CDKN2A |
Melanoma | CDKN2A |
Squamous cell carcinoma, head and neck | CDKN2A |
Oesophageal tumours | CDKN2A |
Sarcoma | CDKN2A |
Melanoma / nervous system tumours | CDKN2A |
Renal cancer | CDKN2A |
Pancreatic cancer | CDKN2A |
Renal cancer | CDKN2B |
Hypotrichosis simplex of the scalp | CDSN |
Acute myeloid leukaemia | CEBPA |
Neutrophil-specific granule deficiency | CEBPE |
Diabetes & pancreatic exocrine dysfunction | CEL |
Joubert syndrome | CEP290 |
Leber congenital amaurosis | CEP290 |
Retinitis pigmentosa | CERKL |
Cholesterol ester transfer protein deficiency | CETP |
Hyperalphalipoproteinaemia | CETP |
Dextro-looped TGA | CFC1 |
Left-right lateral defect | CFC1 |
Left-right laterality defect | CFC1 |
Factor D deficiency | CFD |
Haemolytic uraemic syndrome, atypical | CFH |
Membranoproliferative glomerulonephritis | CFH |
Factor H deficiency | CFH |
Haemolytic uraemic syndrome | CFH |
Haemolytic uraemic syndrome | CFI |
Complement factor I deficiency | CFI |
Properdin deficiency | CFP |
Respiratory symptoms of cystic fibrosis | CFTR |
Sarcoidosis, susceptibility to | CFTR |
Congenital absence of vas deferens | CFTR |
Elevated sweat chloride concentration | CFTR |
Primary sclerosing cholangitis | CFTR |
Foetal hyperechogenic bowel | CFTR |
Pancreatitis, idiopathic | CFTR |
Asthma | CFTR |
Hypertrypsinaemia, neonatal | CFTR |
Hypertrypsinaemia, low sweat chloride | CFTR |
Pancreatitis, hereditary | CFTR |
Bronchiectasis | CFTR |
Cystic fibrosis | CFTR |
Hypochloraemic alkalosis | CFTR |
Bronchiectasis, idiopathic | CFTR |
Obstructive azoospermia | CFTR |
Congenital myasthenic syndrome with episodic apnea | CHAT |
CHARGE syndrome | CHD7 |
Li-Fraumeni syndrome | CHEK2 |
Multiple cancers | CHEK2 |
Prostate cancer | CHEK2 |
Breast cancer | CHEK2 |
Mental retardation | CHL1 |
Choroideraemia | CHM |
Frontotemporal dementia | CHMP2B |
Congenital myasthenic syndrome | CHRNA1 |
Fast channel myasthenic syndrome | CHRNA1 |
Slow channel myasthenic syndrome | CHRNA1 |
Epilepsy, with nocturnal wandering and ictal fear | CHRNA2 |
Epilepsy, nocturnal frontal lobe | CHRNA4 |
Slow channel myasthenic syndrome | CHRNB1 |
Congenital myasthenic syndrome | CHRNB1 |
Epilepsy, nocturnal frontal lobe | CHRNB2 |
Epilepsy, nocturnal frontal lobe & distinct memory deficits | CHRNB2 |
Slow channel myasthenic syndrome | CHRND |
Fast channel myasthenic syndrome | CHRND |
Congenital myasthenic syndrome | CHRND |
Fast channel myasthenic syndrome | CHRNE |
Congenital myasthenic syndrome | CHRNE |
Slow channel myasthenic syndrome | CHRNE |
Pterygium syndrome | CHRNG |
Spondyloepiphyseal dysplasia, Omani type | CHST3 |
Macular corneal dystrophy, type 2 | CHST6 |
Macular corneal dystrophy, type 1 | CHST6 |
Microphthalmia | CHX10 |
Microphthalmia, cataract and iris abnormality | CHX10 |
Bare lymphocyte syndrome, complementation group A | CIITA |
Immunodeficiency | CIITA |
North American Indian childhood cirrhosis | CIRH1A |
Congenital heart defects | CITED2 |
Muscle creatine kinase deficiency | CKM |
Myotonia levior | CLCN1 |
Myotonia congenita | CLCN1 |
Myotonia, generalised | CLCN1 |
Myotonia | CLCN1 |
Myotonia, Becker | CLCN1 |
Idiopathic epilepsy, generalised | CLCN2 |
Dent disease | CLCN5 |
Low molecular weight proteinuria | CLCN5 |
Rickets, hypophosphataemic | CLCN5 |
Nephrolithiasis, hypercalciuric | CLCN5 |
Dent (Japan) disease | CLCN5 |
Osteopetrosis, autosomal recessive, intermediate | CLCN7 |
Infantile malignant osteopetrosis | CLCN7 |
Osteopetrosis, autosomal dominant, Type 2 | CLCN7 |
Bartter syndrome 3 | CLCNKB |
Ichthyosis, alopecia, and sclerosing cholangitis | CLDN1 |
Deafness, autosomal recessive | CLDN14 |
Hypomagnesemia with hypercalciuria and nephrocalcinosis | CLDN16 |
Hypomagnesemia hypercalciuria syndrome | CLDN16 |
Hypercalciuria | CLDN16 |
Mental retardation, ataxia & atrophy of the brain | CLK2 |
Neuronal ceroid lipofuscinosis, protracted | CLN3 |
Neuronal ceroid lipofuscinosis, juvenile | CLN3 |
Neuronal ceroid lipofuscinosis, late infantile | CLN5 |
Neuronal ceroid lipofuscinosis, juvenile | CLN5 |
Neuronal ceroid lipofuscinosis, late infantile | CLN6 |
Neuronal ceroid lipofuscinosis, late infantile | CLN8 |
Epilepsy, progressive with mental retardation | CLN8 |
Cleft lip and palate | CLPTM1 |
Usher syndrome 3a | CLRN1 |
DiGeorge syndrome/ velocardialfacial syndrome | CLTCL1 |
Myotonic dystrophy | CNBP |
Retinitis pigmentosa | CNGA1 |
Colour-blindness, total | CNGA3 |
Achromatopsia | CNGA3 |
Retinitis pigmentosa | CNGB1 |
Achromatopsia | CNGB3 |
Progressive cone dystrophy | CNGB3 |
Macular degeneration, juvenile | CNGB3 |
Ciliary neurotrophic factor deficiency | CNTF |
Features of 3p deletion syndrome | CNTN4 |
Cortical dysplasia-focal epilepsy syndrome | CNTNAP2 |
Deafness, non-syndromic, autosomal dominant | COCH |
Progressive hearing loss | COCH |
Congenital disorder of glycosylation | COG7 |
Metaphyseal chondrodysplasia, Schmid | COL10A1 |
Marshall / Stickler syndrome | COL11A1 |
Marshall syndrome | COL11A1 |
Osteoarthritis, early-onset | COL11A1 |
Stickler syndrome | COL11A1 |
Robin sequence | COL11A2 |
Weissenbacher-Zweymuller syndrome | COL11A2 |
Osteoarthritis, early-onset | COL11A2 |
Otospondylomegaepiphyseal dysplasia | COL11A2 |
Non-syndromic hearing loss, autosomal recessive | COL11A2 |
Stickler syndrome II | COL11A2 |
Osteochondrodysplasia | COL11A2 |
Stickler syndrome, without eye involvement | COL11A2 |
Deafness, autosomal dominant 13 | COL11A2 |
Micrognathia | COL11A2 |
Epidermolysis bullosa, atrophic benign | COL17A1 |
Epidermolysis bullosa | COL17A1 |
Epidermolysis bullosa, junctional | COL17A1 |
Epidermolysis bullosa, Herlitz | COL17A1 |
Knobloch syndrome | COL18A1 |
Osteogenesis imperfecta II | COL1A1 |
Osteogenesis imperfecta | COL1A1 |
Ehlers-Danlos syndrome | COL1A1 |
Ehlers-Danlos syndrome VII | COL1A1 |
Osteogenesis imperfecta IIA | COL1A1 |
Osteogenesis imperfecta III/IV | COL1A1 |
Osteogenesis imperfecta III | COL1A1 |
Osteogenesis imperfecta I | COL1A1 |
Dentinogenesis imperfecta | COL1A1 |
Cervical artery dissection | COL1A1 |
Connective tissue weakness | COL1A1 |
Osteogenesis imperfecta IV | COL1A1 |
Caffey disease | COL1A1 |
Osteogenesis imperfecta IIc | COL1A1 |
Ehlers-Danlos syndrome/Osteogenesis imperfecta | COL1A1 |
Low bone density | COL1A1 |
Osteogenesis imperfecta | COL1A2 |
Osteogenesis imperfecta IV | COL1A2 |
Osteoporosis, juvenile | COL1A2 |
Ehlers-Danlos syndrome VII | COL1A2 |
Osteogenesis imperfecta III | COL1A2 |
Ehlers-Danlos syndrome/Osteogenesis imperfecta | COL1A2 |
Osteoporosis | COL1A2 |
Osteogenesis imperfecta I | COL1A2 |
Ehlers-Danlos syndrome, hypermobile | COL1A2 |
Osteogenesis imperfecta Ib | COL1A2 |
Osteogenesis imperfecta II | COL1A2 |
Osteogenesis imperfecta III/IV | COL1A2 |
Avascular necrosis of the femur head | COL2A1 |
Osteoarthritis | COL2A1 |
Arthroophthalmopathy | COL2A1 |
Spondyloepimetaphyseal dysplasia, Strudwick | COL2A1 |
Wagner's vitreoretinal degeneration | COL2A1 |
Spondyloepiphyseal dysplasia | COL2A1 |
Spondylarthopathy | COL2A1 |
Vitreoretinopathy with phalang. epiphys. Dysplasia | COL2A1 |
Platyspondylic skeletal dysplasia, Torrance | COL2A1 |
Rhegmatogenous retinal detachment | COL2A1 |
Osteochondrodysplasia | COL2A1 |
Achondrogenesis 2 | COL2A1 |
Stickler syndrome | COL2A1 |
Spondyloepiphyseal dysplasia congenita | COL2A1 |
Spondyloepimetaphyseal dysplasia congenita | COL2A1 |
Short-limbed dwarfism | COL2A1 |
Spondylarthopathy with brachydactyly | COL2A1 |
Otospondylomegaepiphyseal dysplasia | COL2A1 |
Hypochondrogenesis | COL2A1 |
Achondrogenesis II-hypochondrogenesis | COL2A1 |
Spondyloperipheral dysplasia | COL2A1 |
Kniest dysplasia | COL2A1 |
Acrogeria, Gottron | COL3A1 |
Ehlers-Danlos syndrome III | COL3A1 |
Aortic aneurysm | COL3A1 |
Ehlers-Danlos syndrome IV | COL3A1 |
Porencephaly, familial | COL4A1 |
Benign haematuria | COL4A3 |
Alport syndrome | COL4A3 |
Haematuria | COL4A3 |
Microhaematuria and proteinuria | COL4A3 |
Benign haematuria | COL4A4 |
Alport syndrome | COL4A4 |
Thin basement membrane disease | COL4A4 |
Microhaematuria and proteinuria | COL4A4 |
Macroscopic haematuria with microhaematuria | COL4A4 |
Alport syndrome, diffuse leiomyomatosis | COL4A5 |
Alport syndrome | COL4A5 |
Ehlers-Danlos syndrome | COL5A1 |
Ehlers-Danlos syndrome II | COL5A1 |
Ehlers-Danlos syndrome I | COL5A1 |
Ehlers-Danlos syndrome | COL5A2 |
Ehlers-Danlos syndrome II | COL5A2 |
Ehlers-Danlos syndrome I | COL5A2 |
Spontaneous cervical artery dissections | COL5A2 |
Bethlem myopathy | COL6A1 |
Ullrich congenital muscular dystrophy | COL6A1 |
Ullrich congenital muscular dystrophy | COL6A2 |
Bethlem myopathy | COL6A2 |
Ullrich congenital muscular dystrophy | COL6A3 |
Bethlem myopathy | COL6A3 |
Bart syndrome | COL7A1 |
Epidermolysis bullosa dystrophica | COL7A1 |
Transient bullous dermolysis | COL7A1 |
Epidermolysis bullosa | COL7A1 |
Epidermolysis bullosa pruriginosa | COL7A1 |
Fuchs corneal dystrophy | COL8A2 |
Multiple epiphyseal dysplasia | COL9A1 |
Stickler syndrome, autosomal recessive | COL9A1 |
Lumbar stenosis | COL9A2 |
Multiple epiphyseal dysplasia | COL9A2 |
Hearing loss, non-syndromic | COL9A3 |
Multiple epiphyseal dysplasia | COL9A3 |
Endplate acetylcholinesterase deficiency | COLQ |
Multiple epiphyseal dysplasia | COMP |
Pseudoachondroplasia | COMP |
Coenzyme Q10 deficiency | COQ2 |
Cytochrome c oxidase deficiency | COX10 |
Cytochrome c oxidase deficiency | COX15 |
Hypertrophic cardiomyopathy, early onset | COX15 |
Aceruloplasminaemia | CP |
Multiple sytem atrophy | CP |
Aceruloplasminaemia with parkinsonism | CP |
Aceruloplasminaemia with diabetes | CP |
Duane retraction syndrome 1 | CPA6 |
Carboxypeptidase N deficiency | CPN1 |
Harderoporphyria | CPOX |
Coproporphyria | CPOX |
Carbamoyl phosphate synthetase I deficiency | CPS1 |
Carnitine palmitoyltransferase 1 deficiency | CPT1A |
Carnitine palmitoyltransferase 2 deficiency | CPT2 |
Retinitis pigmentosa | CRB1 |
Leber congenital amaurosis | CRB1 |
Pigmented paravenous chorioretinal atrophy | CRB1 |
Retinitis pigmentosa 12 | CRB1 |
Mental retardation | CRBN |
Rubinstein-Taybi syndrome | CREBBP |
Ovarian cancer | CREBBP |
Cardiac atrioventricular septal defect | CRELD1 |
Cold Induced Sweating Syndrome | CRLF1 |
Leber congenital amaurosis | CRX |
Retinitis pigmentosa | CRX |
Cone-rod dystrophy | CRX |
Congenital cataract | CRYAA |
Posterior polar cataract | CRYAB |
Cardiomyopathy, dilated | CRYAB |
Myopathy, myofibrillar | CRYAB |
Myopathy, desmin related | CRYAB |
Cataract, zonular with sutural opacities | CRYBA1 |
Cataract, autosomal dominant | CRYBA1 |
Cataract, lamellar | CRYBA4 |
Microphthalmia | CRYBA4 |
Cataract, autosomal dominant | CRYBB1 |
Cataract & microcornea | CRYBB1 |
Cerulean cataract | CRYBB2 |
Cataract, autosomal dominant | CRYBB2 |
Cataract, central nuclear | CRYBB2 |
Cataract, autosomal recessive | CRYBB3 |
Cataract, coppock-like | CRYGC |
Cataract | CRYGC |
Cataract, zonular pulverulent | CRYGC |
Cataract, aculeiform | CRYGD |
Cataract, with protein crystallisation | CRYGD |
Cataract | CRYGD |
Punctate cataract, juvenile progressive | CRYGD |
Progressive cortical cataract, autosomal dominant | CRYGS |
Nonsyndromic deafness | CRYM |
Pulmonary alveolar proteinosis | CSF2 |
Pulmonary alveolar proteinosis | CSF2RB |
Neutropaenia | CSF3R |
Chorionic somatomammotropin deficiency, partial | CSH1 |
Silver-Russell syndrome | CSH1 |
Chorionic somatomammotropin deficiency | CSH1 |
Familial advanced sleep phase syndrome | CSNK1D |
Cardiomyopathy, hypertrophic | CSRP3 |
Cardiomyopathy, dilated | CSRP3 |
Amyloidangiopathy | CST3 |
Epilepsy, progressive myoclonus | CSTB |
Cataracts, facial dysmorphism, neuropathy | CTDP1 |
Cardiomyopathy, dilated | CTF1 |
Cystathioninuria | CTH |
Cystinosis, late onset | CTNS |
Cystinosis, nephropathic | CTNS |
Cystinosis, non-classical | CTNS |
Cystinosis, intermediate | CTNS |
Cystinosis, benign | CTNS |
Cystinosis | CTNS |
Galactosialidosis | CTSA |
Periodontitis, juvenile | CTSC |
Papillon-Lefevre syndrome | CTSC |
Haim-Munk syndrome | CTSC |
Cathepsin D deficiency | CTSD |
Pycnodysostosis | CTSK |
Megaloblastic anaemia | CUBN |
3-M syndrome | CUL7 |
WHIM syndrome | CXCR4 |
Methaemoglobinaemia 4 | CYB5A |
Methaemoglobinaemia 1 | CYB5R3 |
Methaemoglobinaemia 2 | CYB5R3 |
Methaemoglobinaemia | CYB5R3 |
Methaemoglobinaemia 3 | CYB5R3 |
Chronic granulomatous disease | CYBA |
Chronic granulomatous disease | CYBB |
Primary immunodeficiency disease | CYBB |
Iron overload | CYBRD1 |
Trichoepithelioma, multiple familial | CYLD |
Cylindromatosis | CYLD |
Brooke-Spiegler syndrome | CYLD |
XY sex reversal and adrenal insufficiency | CYP11A1 |
Adrenal insufficiency | CYP11A1 |
Adrenal hyperplasia | CYP11B1 |
Hypoaldosteronism | CYP11B1 |
Steroid-11 beta-hydroxylase deficiency | CYP11B1 |
Aldosterone synthase deficiency | CYP11B2 |
Corticosterone methyl oxidase deficiency | CYP11B2 |
Hypoaldosteronism | CYP11B2 |
Aldosterone synthase deficiency, type 2 | CYP11B2 |
17,20-lyase deficiency | CYP17A1 |
Pseudohermaphroditism | CYP17A1 |
Steroid-17 alpha-hydroxylase deficiency | CYP17A1 |
17-alpha-hydroxylase/17,20-lyase deficiency | CYP17A1 |
Aromatase deficiency | CYP19A1 |
Oestrogen excess | CYP19A1 |
Peters' anomaly | CYP1B1 |
Glaucoma, primary open angle | CYP1B1 |
Glaucoma, primary congenital | CYP1B1 |
Non-classic 21-hydroxylase deficiency | CYP21A2 |
Hyperandrogenism | CYP21A2 |
Adrenal hyperplasia | CYP21A2 |
Cerebrotendinous xanthomatosis, with parkinsonism | CYP27A1 |
Cerebrotendinous xanthomatosis | CYP27A1 |
Pseudovitamin D-deficiency rickets | CYP27B1 |
Rhabdomyolysis after cerivastatin treatment | CYP2C8 |
Impaired diclofenac metabolism | CYP2C9 |
Cytochrome P450 deficiency | CYP2D6 |
Lamellar ichthyosis with hyperlinearity of palms & soles | CYP4F22 |
Bietti crystalline corneoretinal dystrophy | CYP4V2 |
Hypercholesterolaemia | CYP7A1 |
Cholestasis, severe | CYP7B1 |
D-2-hydroxyglutaric aciduria | D2HGDH |
Oligozoospermia | DAZ1 |
Oligozoospermia | DAZ2 |
Norepinephrine deficiency | DBH |
Dopamine beta hydroxylase deficiency | DBH |
Maple syrup urine disease | DBT |
Maple syrup urine disease 2 | DBT |
Omenn syndrome | DCLRE1C |
Immunodeficiency, severe combined | DCLRE1C |
Congenital stromal dystrophy | DCN |
Motor neuron disease, lower | DCTN1 |
Amyotrophic lateral sclerosis | DCTN1 |
Amyotrophic lateral sclerosis & dementia | DCTN1 |
Lissencephaly syndrome, X linked | DCX |
Resistant partial seizures | DCX |
Subcortical band heterotopia | DCX |
Double cortex syndrome | DCX |
Xeroderma pigmentosum (E) | DDB2 |
Infertility, idiopathic | DDX3Y |
Cardiomyopathy, hypertrophic | DES |
Cardiomyopathy, dilated | DES |
Myopathy, desmin related | DES |
Deafness, non-syndromic, autosomal dominant | DFNA5 |
Deafness, autosomal recessive | DFNB31 |
Auditory neuropathy | DFNB59 |
DiGeorge syndrome | DGCR5 |
Mitochondrial DNA depletion syndrome | DGUOK |
Desmosterolosis | DHCR24 |
Smith-Lemli-Opitz syndrome | DHCR7 |
Holoprosencephaly | DHCR7 |
Gonadal dysgenesis, complete | DHH |
Gonadal dysgenesis, partial | DHH |
Deafness, non-syndromic, autosomal dominant 1 | DIAPH1 |
Premature ovarian failure | DIAPH2 |
Renal cell cancer | DIRC3 |
Schizophrenia | DISC1 |
Hoyeraal-Hreidarsson syndrome | DKC1 |
Dyskeratosis congenita | DKC1 |
Dyskeratosis congenita with Hoyeraal-Hreidarsson syndrome | DKC1 |
Dyskeratosis congenita, X-linked | DKC1 |
Pyruvate dehydrogenase deficiency | DLAT |
Dihydrolipoyl dehydrogenase deficiency | DLD |
Dihydrolipoamide dehydrogenase deficiency | DLD |
Mental retardation | DLG3 |
Spondylocostal dysostosis | DLL3 |
Trichodentoosseous syndrome | DLX3 |
Amelogenesis imperfecta with taurodontism | DLX3 |
Muscular dystrophy, Duchenne/Becker | DMD |
Cardiomyopathy, dilated | DMD |
Muscular dystrophy, Becker | DMD |
Muscular dystrophy, atypical | DMD |
Dystrophinopathy | DMD |
Muscular dystrophy, intermediate | DMD |
Muscular dystrophy, Duchenne | DMD |
Dimethylglycine dehydrogenase deficiency | DMGDH |
Cardiomyopathy, dilated | DMN |
Myotonic dystrophy | DMPK |
Primary ciliary dyskinesia and situs inversus | DNAH11 |
Primary ciliary dyskinesia | DNAH5 |
Ciliary dyskinesia, primary | DNAI1 |
Kartagener syndrome | DNAI1 |
Dilated cardiomyopathy with ataxia syndrome | DNAJC19 |
Systemic lupus erythematosus | DNASE1 |
Centronuclear myopathy | DNM2 |
Charcot-Marie-Tooth disease | DNM2 |
Chromosome instability and immunodeficiency | DNMT3B |
Attention deficit hyperactivity disorder | DOCK3 |
Congenital disorder of glycosylation 1j | DPAGT1 |
Congenital disorder of glycosylation 1e | DPM1 |
Dihydropyrimidine dehydrogenase deficiency | DPYD |
Dihydropyrimidine dehydrogenase deficiency, partial | DPYD |
Dihydropyramidinase deficiency | DPYS |
Myoclonus dystonia | DRD2 |
Autonomic nervous system dysfunction | DRD4 |
Striate palmoplantar keratoderma | DSG1 |
Cardiomyopathy, arrhythmogenic right ventricular | DSG2 |
Monilethrix | DSG4 |
Hypotrichosis | DSG4 |
Striate palmoplantar keratoderma | DSP |
Cardiomyopathy, arrhythmogenic right ventricular | DSP |
Epidermolysis bullosa, lethal acantholytic | DSP |
Skin fragility and woolly hair | DSP |
Dilated cardiomyopathy, woolly hair, keratoderma | DSP |
Cardiomyopathy, arrhythmogenic left ventricular | DSP |
Dentine dysplasia type II | DSPP |
Dentinogenesis imperfecta type II | DSPP |
Dentinogenesis imperfecta type III | DSPP |
Dentinogenesis imperfecta Shields type II | DSPP |
Dentinogenesis imperfecta type I | DSPP |
Oesophageal atresia and psychomotor retardation | DST |
Left ventricular noncompaction with CHD | DTNA |
Hermansky-Pudlak syndrome | DTNBP1 |
Iodide organification defect | DUOX2 |
Hypothyroidism | DUOX2 |
Dyggve-Melchior-Clausen syndrome | DYM |
Smith-McCort dysplasia | DYM |
Muscular dystrophy, limb girdle 2B | DYSF |
Muscular dystrophy | DYSF |
Muscular dystrophy, limb girdle | DYSF |
Miyoshi myopathy | DYSF |
Muscular dystrophy, limb girdle/Miyoshi myopathy | DYSF |
Dysferlinopathy | DYSF |
HyperCKemia | DYSF |
Dyslexia | DYX1 |
Chondrodysplasia punctata, X-linked | EBP |
CHILD syndrome | EBP |
Hirschsprung disease | ECE1 |
Lipoid proteinosis | ECM1 |
Ectodermal dysplasia | EDA |
Hypodontia | EDA |
Hypohydrotic ectodermal dysplasia | EDAR |
Ectodermal dysplasia | EDARADD |
Waardenburg-Hirschsprung disease | EDN3 |
Central hypoventilation syndrome | EDN3 |
Shah-Waardenburg syndrome | EDN3 |
Hirschsprung disease | EDN3 |
Waardenburg-Hirschsprung disease | EDNRB |
ABCD syndrome | EDNRB |
Hirschsprung disease | EDNRB |
Malattia leventinese | EFEMP1 |
Cutis laxa syndrome | EFEMP2 |
Myoclonic epilepsy, juvenile | EFHC1 |
Craniofrontonasal syndrome | EFNB1 |
Lung cancer, susceptibility to | EGFR |
Dejerine-Sottas syndrome | EGR2 |
Neuropathy, congenital hypomyelinating | EGR2 |
Charcot-Marie-Tooth disease 1 | EGR2 |
Mental retardation | EHMT1 |
Wolcott-Rallison syndrome | EIF2AK3 |
Leukoencephalopathy with vanishing white matter | EIF2B1 |
Leukoencephalopathy with vanishing white matter | EIF2B2 |
Ovarioleukodystrophy | EIF2B2 |
Leukoencephalopathy with vanishing white matter | EIF2B3 |
Leukoencephalopathy with vanishing white matter | EIF2B4 |
Ovarioleukodystrophy | EIF2B4 |
Ovarioleukodystrophy | EIF2B5 |
Leukoencephalopathy with vanishing white matter | EIF2B5 |
Vanishing white matter disease & peripheral neuropathy | EIF2B5 |
Neutropaenia, congenital | ELA2 |
Neutropaenia, cyclic | ELA2 |
Prostate cancer | ELAC2 |
Mental retardation, X-linked | ELK1 |
Supravalvular aortic stenosis | ELN |
Supravalvular aortic stenosis in Williams-Beuren syndrome | ELN |
Cutis laxa | ELN |
Chronic obstructive pulmonary disease | ELN |
Peripheral pulmonary artery stenosis | ELN |
Stargardt disease 3 and macular dystrophy | ELOVL4 |
Muscular dystrophy, Emery-Dreifuss | EMD |
Conduction cardiomyopathy | EMD |
Schizencephaly | EMX2 |
Amelogenesis imperfecta | ENAM |
Polyposis, juvenile | ENG |
Haemorrhagic telangiectasia 1 | ENG |
Pulmonary hypertension, primary | ENG |
Beta-enolase deficiency | ENO3 |
Myelopathy (OPLL) | ENPP1 |
Idiopathic infantile arterial calcification | ENPP1 |
Rubinstein-Taybi syndrome | EP300 |
Elliptocytosis | EPB41 |
Spherocytosis | EPB42 |
Haemolytic anaemia | EPB42 |
Epilepsy, progressive myoclonus | EPM2A |
Erythrocytosis | EPOR |
Polycythaemia | EPOR |
Eosinophil peroxidase deficiency | EPX |
Trichothiodystrophy | ERCC2 |
Xeroderma pigmentosum | ERCC2 |
Trichothiodystrophy | ERCC3 |
Cockayne syndrome | ERCC3 |
Xeroderma pigmentosum (B) | ERCC3 |
Xeroderma pigmentosum (F) | ERCC4 |
Xeroderma pigmentosum | ERCC5 |
Cerebro-oculo-facio-skeletal syndrome | ERCC6 |
Cockayne syndrome | ERCC6 |
Cockayne syndrome | ERCC8 |
SC Phocomelia | ESCO2 |
Roberts syndrome | ESCO2 |
Hearing loss, autosomal dominant | ESPN |
Deafness and vestibular areflexia | ESPN |
Oestrogen resistance | ESR1 |
Glutaricacidaemia 2a | ETFA |
Electron transfer flavoprotein deficiency | ETFA |
Electron transfer flavoprotein deficiency | ETFB |
Glutaricacidaemia 2b | ETFB |
Glutaricaciduria 2b | ETFB |
Lipid storage myopathy | ETFDH |
Glutaricacidaemia 2c | ETFDH |
Encephalopathy, ethylmalonic | ETHE1 |
Weyers acrodental dysostosis | EVC |
Ellis-van Creveld syndrome | EVC |
Weyers acrofacial dysostosis | EVC2 |
Ellis-van Creveld syndrome | EVC2 |
Colorectal cancer, non-polyposis | EXO1 |
Chondrosarcoma | EXT1 |
Langer-Gideon syndrome | EXT1 |
Osteochondroma | EXT1 |
Multiple exostoses 1 | EXT1 |
Multiple exostoses | EXT1 |
Multiple exostoses | EXT2 |
Osteochondroma | EXT2 |
Iris anomaly | EYA1 |
Branchio-oto-renal / branchiootic syndrome | EYA1 |
Oto-facio-cervical syndrome | EYA1 |
Branchio-otic syndrome | EYA1 |
Branchio-oto-renal syndrome | EYA1 |
Peters' anomaly with cataracts | EYA1 |
Late-onset deafness | EYA4 |
Dilated cardiomyopathy and sensorineural deafness | EYA4 |
Sensorineural deafness | EYA4 |
Factor X deficiency | F10 |
Factor XI deficiency | F11 |
Angioedema, hereditary | F12 |
Factor XII deficiency | F12 |
Factor XIII deficiency | F13A1 |
Factor XIII deficiency | F13B |
Hypoprothrombinaemia | F2 |
Dysprothrombinaemia | F2 |
Thrombosis | F2 |
Prothrombin deficiency | F2 |
Thrombosis, venous | F2 |
Factor V deficiency | F5 |
Thrombosis | F5 |
Factor VII deficiency | F7 |
Haemophilia A | F8 |
Warfarin sensitivity | F9 |
Haemophilia B | F9 |
Tyrosinaemia 1 | FAH |
Phenotype modifier | FAH |
Hypomyelination & congenital cataract | FAM126A |
Fanconi anaemia | FANCA |
Fanconi anaemia | FANCB |
T-cell acute lymphocytic leukaemia | FANCC |
Fanconi anaemia | FANCC |
Fanconi anaemia | FANCD2 |
Fanconi anaemia | FANCE |
Fanconi anaemia | FANCF |
Fanconi anaemia | FANCG |
Fanconi anaemia | FANCL |
Fanconi anaemia | FANCM |
Autoimmune lymphoproliferative syndrome | FAS |
Canale-Smith syndrome | FAS |
Autoimmune hepatitis 2 | FAS |
Lymphoproliferative disorder | FAS |
Autoimmune lymphoproliferative syndrome | FASLG |
Systemic lupus erythematosus, susceptibility to | FASLG |
Fechtner syndrome | FBLN1 |
Synpolydactyly | FBLN1 |
Age-related macular degeneration | FBLN5 |
Cutis laxa | FBLN5 |
Kyphoscoliosis | FBN1 |
Marfan syndrome | FBN1 |
Weill-Marchesani syndrome | FBN1 |
Aortic aneurysm | FBN1 |
Fibrillinopathy | FBN1 |
Shprintzen-Goldberg syndrome | FBN1 |
Ectopia lentis | FBN1 |
Mitral valve prolapse | FBN1 |
Contractural arachnodactyly | FBN2 |
Fructose-1,6-bisphosphatase deficiency | FBP1 |
Split hand/foot malformation 3 | FBXW4 |
IgG receptor I, phagocytic, deficiency | FCGR1A |
FCN2 deficiency | FCN2 |
Protoporphyria, erythropoietic | FECH |
Porphyria, erythropoietic | FECH |
Protoporphyria | FECH |
Kindler syndrome | FERMT1 |
Amyloidosis, renal | FGA |
Afibrinogenaemia | FGA |
Thrombosis | FGA |
Haemorrhages | FGA |
Hypofibrinogenaemia | FGA |
Dysfibrinogenaemia | FGA |
Afibrinogenaemia | FGB |
Haemorrhages | FGB |
Dysfibrinogenaemia | FGB |
Hypofibrinogenaemia | FGB |
Thrombotic tendency | FGB |
Attention deficit hyperactivity disorder | FGD1 |
Aarskog-Scott syndrome | FGD1 |
Mental retardation, X-linked | FGD1 |
Aplasia of lacrimal and salivary glands | FGF10 |
Lacrimo-auriculo-dento-digital syndrome | FGF10 |
Cerebral ataxia, autosomal dominant | FGF14 |
Tumoural calcinosis with hyperphosphataemia | FGF23 |
Rickets, hypophosphataemic, autosomal dominant | FGF23 |
Pfeiffer syndrome | FGFR1 |
Osteoglophonic dysplasia | FGFR1 |
Kallmann syndrome | FGFR1 |
Non-syndromic trigonocephaly | FGFR1 |
Craniosynostosis | FGFR2 |
Beare-Stevenson cutis gyrata syndrome | FGFR2 |
Lacrimo-auriculo-dento-digital syndrome | FGFR2 |
Pfeiffer syndrome | FGFR2 |
Saethre-Chotzen syndrome | FGFR2 |
Jackson-Weiss syndrome | FGFR2 |
Crouzon syndrome | FGFR2 |
Apert syndrome | FGFR2 |
Lacrimo-auriculo-dento-digital syndrome | FGFR3 |
Achondroplasia | FGFR3 |
Crouzon syndrome | FGFR3 |
Thanatophoric dysplasia | FGFR3 |
Hypochondroplasia | FGFR3 |
Thanatophoric dwarfism | FGFR3 |
Craniosynostosis | FGFR3 |
Skeletal dysplasia | FGFR3 |
Menorrhagia | FGG |
Hypofibrinogenaemia | FGG |
Epistaxis, recurrent | FGG |
Dysfibrinogenaemia | FGG |
Afibrinogenaemia | FGG |
Leiomyomatosis and renal cell cancer | FH |
Multiple cutaneous and uterine leiomyoma syndrome | FH |
Multiple leiomyomatosis | FH |
Ovarian mucinous cystadenoma | FH |
Leiomyomatosis | FH |
Fumarase deficiency | FH |
Deficiency in Williams-Beuren syndrome | FKBP6 |
Muscular dystrophy, limb girdle | FKRP |
Muscular dystrophy, congenital | FKRP |
Muscular dystrophy, Fukuyama | FKTN |
Walker-Warburg syndrome | FKTN |
Pneumothorax, primary spontaneous | FLCN |
Birt-Hogg-Dube syndrome | FLCN |
Ichthyosis vulgaris | FLG |
Otopalatodigital syndrome 1 | FLNA |
Heterotopia, periventricular | FLNA |
Melnick-Needles syndrome | FLNA |
Otopalatodigital syndrome 2 | FLNA |
Ehlers-Danlos syndrome & heterotopia, periventricular | FLNA |
Frontometaphyseal dysplasia | FLNA |
Otopalatodigital-spectrum disorder | FLNA |
Atelosteogenesis | FLNB |
Spondylocarpotarsal syndrome | FLNB |
Boomerang dysplasia | FLNB |
Larsen syndrome, autosomal dominant | FLNB |
Myopathy, myofibrillar | FLNC |
Cardiomyopathy, dilated | FLT1 |
Lymphoedema, primary | FLT4 |
Trimethylaminuria | FMO3 |
Fragile X mental retardation syndrome | FMR1 |
Neural tube defects | FOLR1 |
Diabetes, early-onset, MODY | FOXA2 |
Rieger anomaly, with glaucoma | FOXC1 |
Congenital glaucoma | FOXC1 |
Axenfeld-Rieger anomaly | FOXC1 |
Axenfeld anomaly, with atrial septal defect | FOXC1 |
Anterior segment defect, with glaucoma | FOXC1 |
Axenfeld anomaly, with glaucoma | FOXC1 |
Axenfeld anomaly | FOXC1 |
Iris hypoplasia | FOXC1 |
Rieger anomaly | FOXC1 |
Peter anolmaly | FOXC1 |
Lymphoedema-distichiasis | FOXC2 |
Distichiasis | FOXC2 |
Thyroid agenesis | FOXE1 |
Cleft palate, non-syndromic | FOXE1 |
Aphakia, congenital, primary | FOXE3 |
Anterior segment ocular dysgenesis and cataracts | FOXE3 |
Peters' anomaly | FOXE3 |
Blepharophimosis/ptosis/epicanthus inversus syndrome | FOXL2 |
Premature ovarian failure | FOXL2 |
Congenital alopecia with T-cell immunodeficiency | FOXN1 |
Verbal dyspraxia, dysmorphism and devel. delay | FOXP2 |
Developmental verbal dyspraxia | FOXP2 |
IPEX syndrome | FOXP3 |
Fraser syndrome | FRAS1 |
Fragile site, FRAXF | FRAXF |
Fraser syndrome | FREM2 |
Retinitis pigmentosa, autosomal dominant | FSCN2 |
Follicle-stimulating hormone deficiency | FSHB |
Facioscapulohumeral muscular dystrophy | FSHMD1A |
Ovarian hyperstimulation syndrome | FSHR |
FSHR activation | FSHR |
Secondary amenorrhea | FSHR |
Twinning, dizygotic | FSHR |
Hypergonadotropic ovarian failure | FSHR |
Hypergonadotropic hypogonadism | FSHR |
Primary amenorrhea | FSHR |
Glutamate formiminotransferase deficiency | FTCD |
Iron overload | FTH1 |
L-ferritin deficiency | FTL |
Neuroferritinopathy | FTL |
Hyperferritinaemia-cataract syndrome | FTL |
Mental retardation | FTSJ1 |
Fucosidosis | FUCA1 |
H antigen, Reunion phenotype | FUT1 |
H antigen, para-Bombay phenotype | FUT1 |
H antigen, Bombay phenotype | FUT1 |
Fucosyltransferase deficiency | FUT2 |
Lewis antigen, absence | FUT3 |
Fucosyltransferase deficiency | FUT6 |
Fucosyltransferase deficiency | FUT7 |
Friedreich ataxia | FXN |
Cardiomyopathy, hypertrophic | FXN |
Hypomagnesaemia, renal | FXYD2 |
Exudative vitreoretinopathy | FZD4 |
Williams-Beuren syndrome | FZD9 |
Glycogen storage disease 1a | G6PC |
Glucose-6-phosphate dehydrogenase deficiency | G6PD |
Glycogen storage disease 2 | GAA |
Childhood absence epilepsy | GABRA1 |
Myoclonic epilepsy, juvenile | GABRA1 |
Neurological deficits of Angelman syndrome | GABRB3 |
Generalized epilepsy with febrile seizures plus | GABRG2 |
Epilepsy, childhood absence with febrile seizures | GABRG2 |
Febrile seizures | GABRG2 |
Krabbe disease | GALC |
Galactosaemia epimerase deficiency | GALE |
Galactokinase deficiency | GALK1 |
Mucopolysaccharidosis IVa | GALNS |
APRT and GALNS deficiency, combined | GALNS |
Mucopolysaccharidosis IV | GALNS |
Tumoural calcinosis | GALNT3 |
Galactosaemia | GALT |
Guanidinoacetate methyltransferase deficiency | GAMT |
Giant axonal neuropathy | GAN |
Charcot-Marie-Tooth disease 2d | GARS |
Charcot-Marie-Tooth disease 2d and distal spinal muscular atrophy | GARS |
Thrombocytopaenia 1 | GATA1 |
Dyserythropoietic anaemia and thrombocytopaenia | GATA1 |
Impaired erythropoiesis | GATA1 |
Hypoparathyroidism, deafness and renal dysplasia | GATA3 |
Congenital heart defects | GATA4 |
Arginine:glycine amidinotransferase deficiency | GATM |
Parkinson disease | GBA |
Gaucher disease | GBA |
Gaucher disease 3 | GBA |
Gaucher disease 1 | GBA |
Gaucher disease 2 | GBA |
Glycogen storage disease 4 | GBE1 |
Polyglucosan body disease, adult | GBE1 |
Glutaricacidaemia I | GCDH |
Dystonia | GCH1 |
Tetrahydrobiopterin deficiency | GCH1 |
Hyperphenylalaninaemia | GCH1 |
Dystonia, dopa-responsive | GCH1 |
Dystonia, progressive | GCH1 |
Hyperglycaemia | GCK |
Diabetes, gestational | GCK |
Hypoglycaemia | GCK |
Diabetes mellitus, post transplant | GCK |
Diabetes mellitus, neonatal | GCK |
Diabetes, MODY2 | GCK |
Hyperinsulinism | GCK |
Diabetes mellitus | GCK |
Diabetes, NIDDM | GCK |
Diabetes, MODY | GCK |
Gamma-glutamylcysteine synthetase deficiency | GCLC |
Hypoparathyroidism | GCM2 |
Congenital cataract | GCNT2 |
Glucosidase 1 deficiency | gcs1 |
Hyperglycinaemia, transient neonatal | GCSH |
Hyperglycinaemia, non-ketotic | GCSH |
Charcot-Marie-Tooth disease, autosomal recessive | GDAP1 |
Charcot-Marie-Tooth disease 4A | GDAP1 |
Demyelinating peripheral neuropathy | GDAP1 |
Chondrodysplasia, Grebe type | GDF5 |
Brachydactyly, type C | GDF5 |
Symphalangism | GDF5 |
Chondrodysplasia | GDF5 |
DuPan syndrome | GDF5 |
DZ twinning | GDF9 |
Mental retardation, non-specific, X-linked | GDI1 |
Hirschsprung disease | GDNF |
Alexander disease | GFAP |
Neutropaenia, congenital | GFI1 |
Combined oxidative phosphorylation deficiency | GFM1 |
GDNF receptor 1 deficiency | GFRA1 |
Gamma-glutamyl carboxylase deficiency | GGCX |
Short stature | GH1 |
Growth hormone deficiency | GH1 |
Diabetes mellitus, type 1 | GH1 |
Growth hormone deficiency 1A | GH1 |
Placental growth hormone / lactogen deficiency | GH2 |
Growth hormone deficiency | GH2 |
Laron dwarfism | GHR |
Short stature | GHR |
Growth hormone insensitivity | GHR |
Growth hormone deficiency | GHRHR |
Growth hormone deficiency 1B | GHRHR |
Growth hormone deficiency (type 1B) | GHRHR |
Obesity | GHSR |
Intrinsic factor deficiency | GIF |
Hallerman-Streiff/ODDD syndrome | GJA1 |
Ectodermal & oculodentodigital dysplasia with skin hyperkeratosis | GJA1 |
Oculodentodigital dysplasia | GJA1 |
Heart malformations | GJA1 |
Pelizaeus-Merzbacher-like disease | GJA12 |
Nuclear punctate cataract | GJA3 |
Congenital cataract | GJA3 |
Cataract, lamellar pulverulent | GJA8 |
Cataract, zonular nuclear pulverulent | GJA8 |
Cataract, congenital nuclear | GJA8 |
Cataract, zonular pulverulent | GJA8 |
Charcot-Marie-Tooth disease | GJB1 |
Charcot-Marie-Tooth disease 2 with deafness | GJB1 |
Charcot-Marie-Tooth disease 2 | GJB1 |
Charcot-Marie-Tooth disease 1 | GJB1 |
Demyelinating polyneuropathy & motor axonal loss | GJB1 |
Knuckle pads, hyperkeratosis and deafness | GJB2 |
Deafness | GJB2 |
Deafness, unilateral | GJB2 |
Deafness, autosomal dominant 3 | GJB2 |
Deafness, autosomal recessive 1 | GJB2 |
Deafness and palmoplantar hyperkeratosis | GJB2 |
Keratitis-ichthyosis-deafness syndrome | GJB2 |
Knuckle pads, leukonychia, sensorineural deafness | GJB2 |
Deafness and palmoplantar keratoderma | GJB2 |
Vohwinkel syndrome | GJB2 |
Erythrokeratodermia variabilis | GJB3 |
Deafness, non-syndromic, autosomal recessive | GJB3 |
Peripheral neuropathy & hearing impairment | GJB3 |
Deafness, non-syndromic, autosomal dominant | GJB3 |
Erythrokeratodermia variabilis | GJB4 |
Deafness, autosomal dominant 3 | GJB6 |
Deafness, autosomal recessive | GJB6 |
Hidrotic ectodermal dysplasia | GJB6 |
Glycerol kinase deficiency | GK |
Fabry disease | GLA |
Morquio disease B | GLB1 |
Gangliosidosis GM1, infantile | GLB1 |
Neuronal affection | GLB1 |
Gangliosidosis GM1 | GLB1 |
Hyperglycinaemia, transient neonatal | GLDC |
Hyperglycinaemia, non-ketotic | GLDC |
Holoprosencephaly | GLI2 |
Preaxial polydactyly IV | GLI3 |
Greig cephalopolysyndactyly syndrome | GLI3 |
Acrocallosal syndrome | GLI3 |
Postaxial polydactyly A/B | GLI3 |
Pallister-Hall syndrome | GLI3 |
Postaxial polydactyly A | GLI3 |
Neonatal diabetes & congenital hypothyroidism | GLIS3 |
Glomuvenous malformations | GLMN |
Hyperekplexia | GLRA1 |
Hyperekplexia | GLRB |
Hyperinsulinism hyperammonaemia syndrome | GLUD1 |
Gangliosidosis GM2 | GM2A |
Albright hereditary osteodystrophy | GNAS |
Growth retardation, facial dysmorphism, hypotonia | GNAS |
Progressive osseous heteroplasia | GNAS |
McCune-Albright syndrome | GNAS |
Pseudohypoparathyroidism 1a | GNAS |
Pseudohypoparathyroidism 1b | GNAS |
Pseudohypoparathyroidism 1a, with testotoxicosis | GNAS |
Nightblindness, stationary | GNAT1 |
Cone-rod degeneration | GNAT2 |
Achromatopsia | GNAT2 |
Myopathy, distal, with rimmed vacuoles | GNE |
Sialuria | GNE |
Inclusion body myopathy | GNE |
Glycine N-methyltransferase deficiency | GNMT |
Rhizomelic chondrodysplasia punctata, type 2 | GNPAT |
Mucolipidosis III | GNPTAB |
Mucolipidosis II | GNPTAB |
Mucolipidosis IIIA | GNPTAB |
Mucolipidosis III | GNPTG |
Mucolipidosis IIIc | GNPTG |
Hypogonadotropic hypogonadism | GNRHR |
Mucopolysaccharidosis IIId | GNS |
Pseudo-von Willebrand disease | GP1BA |
Bernard-Soulier syndrome | GP1BA |
Macrothrombocytopaenia | GP1BA |
Giant platelet disorder | GP1BB |
Bernard-Soulier syndrome | GP9 |
Simpson-Golabi-Behmel syndrome | GPC3 |
Increased plasma FFA and glycerol levels | GPD2 |
Diabetes mellitus, type 2 | GPD2 |
Molybdenum cofactor deficiency | GPHN |
Hyperekplexia | GPHN |
Glucosephosphate isomerase deficiency | GPI |
Albinism, ocular | GPR143 |
Nystagmus, X-linked | GPR143 |
Polymicrogyria, bilateral frontoparietal | GPR56 |
Altered acylation stimulating protein bioactivity | GPR77 |
Febrile and afebrile seizures | GPR98 |
Usher syndrome 2 | GPR98 |
Russell-Silver syndrome | GRB10 |
Deafness, autosomal dominant | GRHL2 |
Hyperoxaluria II | GRHPR |
Schizophrenia | GRIK3 |
Retinitis pigmentosa | GRK1 |
Stationary night blindness, Oguchi type | GRK1 |
Night blindness, congenital | GRM6 |
Frontotemporal dementia | GRN |
Autism and multiple exostoses | GRPR |
Amyloidosis | GSN |
Corneal dystrophy 2 | GSN |
Glutathione synthetase deficiency | GSS |
Trichothiodystrophy | GTF2H5 |
Williams-Beuren syndrome | GTF2IRD1 |
Williams-Beuren syndrome | GTF2IRD2 |
Cone dystrophy, autosomal dominant | GUCA1A |
Retinal dystrophy, autosomal dominant | GUCA1B |
Cone-rod dystrophy | GUCY2D |
Leber congenital amaurosis | GUCY2D |
Retinitis pigmentosa | GUCY2D |
Mucopolysaccharidosis VII | GUSB |
Hydrops fetalis | GUSB |
Haemolytic disease of the newborn | GYPA |
Elliptocytosis | GYPC |
Glycogen storage disease 0 | GYS2 |
Beckwith-Wiedemann syndrome | H19 |
Cortisone reductase deficiency | H6PD |
Hypoglycaemia, hyperinsulinaemic | HADH |
Mitochondrial trifunctional protein deficiency | HADHA |
Mitochondrial trifunctional protein deficiency | HADHB |
Histidinaemia | HAL |
Haemochromatosis, juvenile | HAMP |
Haemochromatosis | HAMP |
Thalassaemia alpha | HBA1 |
Haemoglobin H disease | HBA1 |
Haemoglobin variant | HBA1 |
Haemoglobin H disease | HBA2 |
Anaemia with hypochromia & microcytosis | HBA2 |
Haemoglobin variant | HBA2 |
Thalassaemia alpha | HBA2 |
Thalassaemia G-gamma(delta-beta) | HBB |
Thalassaemia beta | HBB |
Thalassaemia epsilon-gamma-delta-beta | HBB |
Thalassaemia beta, silent | HBB |
Thalassaemia trait | HBB |
Haemolytic anaemia | HBB |
Thalassaemia gamma-delta-beta | HBB |
Erythrocytosis | HBB |
Thalassaemia delta-beta | HBB |
Sickle cell anaemia | HBB |
Hereditary persistence of foetal haemoglobin | HBB |
Haemoglobin variant | HBB |
Anaemia, hypochromic mitocytic | HBB |
Thalassaemia alpha | HBD |
Thalassaemia delta | HBD |
Hereditary persistence of foetal haemoglobin | HBD |
Haemoglobin variant | HBD |
Thalassaemia epsilon-gamma-delta-beta | HBE1 |
Thalassaemia A-gamma-beta | HBG1 |
Haemoglobin variant | HBG1 |
Thalassaemia gamma | HBG1 |
Thalassaemia A-gamma-delta-beta | HBG1 |
Hereditary persistence of foetal haemoglobin | HBG1 |
Thalassaemia gamma-delta-beta | HBG1 |
Hereditary persistence of foetal haemoglobin | HBG2 |
Thalassaemia epsilon-gamma-delta-beta | HBG2 |
Haemoglobin variant | HBG2 |
Sinus node disease | HCN4 |
Sinus bradycardia | HCN4 |
Narcolepsy, early onset | HCRT |
Excessive daytime sleepiness | HCRTR2 |
Tourette syndrome | HCRTR2 |
Huntington disease | HD |
Pituitary hypoplasia | HESX1 |
Septo-optic dysplasia | HESX1 |
Tay-Sachs disease | HEXA |
Beta-hexosaminidase pseudodeficiency | HEXA |
Gangliosidosis GM2 | HEXA |
Motor neuron disease | HEXB |
Heat lability hexosaminidase | HEXB |
Sandhoff disease | HEXB |
Altered iron status | HFE |
Haemochromatosis | HFE |
Haemochromatosis | HFE2 |
Alkaptonuria | HGD |
Haemolytic anaemia | HK1 |
Diabetes, NIDDM | HK2 |
Narcolepsy | HLA-DRB1 |
Multiple carboxylase deficiency | HLCS |
Holocarboxylase synthetase deficiency | HLCS |
Porphyria, acute intermittent | HMBS |
Macular degeneration, age related | HMCN1 |
Diabetes mellitus, type 2 | HMGA1 |
Somatic overgrowth and lipomas | HMGA2 |
HMG-CoA lyase deficiency | HMGCL |
3-hydroxy-3-methylglutaric aciduria | HMGCL |
Mitochondrial HMG-CoA synthase deficiency | HMGCS2 |
Haem oxygenase 1 deficiency | HMOX1 |
Diabetes, MODY3 | HNF1A |
Diabetes mellitus, type 2 | HNF1A |
Diabetes mellitus, type 1 | HNF1A |
Diabetes, MODY | HNF1A |
Juvenile hyperuricemic nephropathy, familial | HNF1B |
Diabetes, early onset, renal dysfunction | HNF1B |
Renal tract malformation | HNF1B |
Diabetes, MODY | HNF1B |
Diabetes mellitus, type 2 | HNF1B |
Pancreas hypoplasia & multicystic renal dysplasia | HNF1B |
GCKD with early-onset diabetes | HNF1B |
Renal carcinoma | HNF1B |
MODY, renal dysfunction, genital malformation | HNF1B |
Diabetic nephropathy | HNF1B |
Diabetes, MODY1 | HNF4A |
Diabetes mellitus, type 2 | HNF4A |
Diabetes, MODY | HNF4A |
Athabaskan brainstem dysgenesis syndrome, ABDS | HOXA1 |
Amegakaryocytic thrombocytopaenia | HOXA11 |
Hand-foot-genital syndrome | HOXA13 |
Guttmacher syndrome | HOXA13 |
Vertical talus and Charcot-Marie-Tooth disease | HOXD10 |
Limb malformation | HOXD13 |
Brachydactyly | HOXD13 |
Synpolydactyly | HOXD13 |
Acute lymphoblastic leukaemia | HOXD4 |
Anhaptoglobinaemia | HP |
Hawkinsinsuria | HPD |
Tyrosinaemia 3 | HPD |
Hyperuricaemia with neurologic symptoms | HPRT1 |
Nephrolithiasis | HPRT1 |
Lesch-Nyhan syndrome | HPRT1 |
Hyperuricaemia | HPRT1 |
Lesch-Nyhan syndrome, female | HPRT1 |
HPRT deficiency without Lesch-Nyhan syndrome | HPRT1 |
Hypoxanthine guanine phosphoribosyltransferase deficiency | HPRT1 |
Hermansky-Pudlak syndrome | HPS1 |
Hermansky-Pudlak syndrome | HPS3 |
Hermansky-Pudlak syndrome | HPS4 |
Hermansky-Pudlak syndrome | HPS5 |
Hermansky-Pudlak syndrome | HPS6 |
Atrichia with papular lesions | HR |
Alopecia universalis | HR |
Congenital atrichia | HR |
Costello syndrome | HRAS |
Histidine-rich glycoprotein deficiency | HRG |
Cortisone reductase deficiency | HSD11B1 |
Hypertension | HSD11B2 |
Apparent mineralocorticoid excess | HSD11B2 |
2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency | HSD17B10 |
Pseudohermaphroditism | HSD17B3 |
Pseudohermaphroditism, male | HSD17B3 |
17 beta-hydroxysteroid dehydrogenase 3 deficiency | HSD17B3 |
D-bifunctional protein deficiency | HSD17B4 |
Adrenal hyperplasia | HSD3B2 |
3 beta-hydroxysteroid dehydrogenase deficiency | HSD3B2 |
Idiopathic hypospadias | HSD3B2 |
Pseudohermaphroditism | HSD3B2 |
3 beta-hydroxysteroid oxidoreductase deficiency | HSD3B7 |
Cataract, marner | HSF4 |
Cataract, lamellar | HSF4 |
Cataract, total white | HSF4 |
Cataract, autosomal recessive | HSF4 |
Neuropathy, hereditary sensory, type II | HSN2 |
Cytochrome c oxidase deficiency | HSN2 |
Neuropathy, distal hereditary motor | HSPB1 |
Charcot-Marie-Tooth disease, axonal, type 2F | HSPB1 |
Charcot-Marie-Tooth disease 2L | HSPB8 |
Neuropathy, distal hereditary motor, type II | HSPB8 |
Spastic paraplegia | HSPD1 |
Dyssegmental dysplasia, Silverman-Handmaker type | HSPG2 |
Schwartz-Jampel syndrome type 1 | HSPG2 |
Histatin 2 deficiency | HTN3 |
Pulmonary hypertension, primary | HTR2B |
Parkinson disease | HTRA2 |
Mucopolysaccharidosis IX | HYAL1 |
Hydrolethalus syndrome | HYLS1 |
Diabetes, NIDDM | IAPP |
Ichthyosis, autosomal recessive | ich |
Immunodeficiency, common variable | ICOS |
Mucopolysaccharidosis II | IDS |
Mucopolysaccharidosis II, with seizures | IDS |
Hurler-Scheie syndrome | IDUA |
Alpha-L-iduronidase pseudodeficiency | IDUA |
Hurler syndrome | IDUA |
Scheie syndrome | IDUA |
Mycobacterium avium osteomyelitis | IFNGR1 |
Mycobacterial infection | IFNGR1 |
IFNGR1 deficiency | IFNGR1 |
BCG infection | IFNGR1 |
Mycobacterial infection | IFNGR2 |
Growth retardation | IGF1 |
Insulin-like growth factor deficiency | IGF1 |
Overgrowth | IGF1R |
Growth retardation | IGF1R |
Acid-labile subunit deficiency | IGFALS |
IgG2 deficiency, selective | IGHG2 |
Hypogammaglobulinaemia | IGHM |
Spinal muscular atrophy with resp. distress 1 | IGHMBP2 |
Immunoglobulin K deficiency | IGKV@ |
Agammaglobulinaemia, autosomal recessive | IGLL1 |
Brachydactyly type A1 | IHH |
Acrocapitofemoral dysplasia | IHH |
Dysautonomia, familial | IKBKAP |
Immune deficiency | IKBKG |
Incontinentia pigmenti, familial | IKBKG |
Ectodermal dysplasia | IKBKG |
Ectodermal dysplasia with immune deficiency | IKBKG |
Incontinentia pigmenti with immune deficiency | IKBKG |
Mycobacteriosis, atypical, familial | IKBKG |
Interleukin 12 deficiency | IL12B |
IL12RB1 deficiency | IL12RB1 |
Mycobacterial and Salmonella infection | IL12RB1 |
Salmonella infection | IL12RB1 |
Mycobacterial infection | IL12RB1 |
Atopy | IL12RB2 |
Mental retardation, X-linked | IL1RAPL1 |
Immunodeficiency | IL2RA |
Immunodeficiency, severe combined | IL2RG |
Immunodeficiency, severe combined | IL7R |
Retinitis pigmentosa | IMPDH1 |
Adrenocortical tumour | INHA |
Premature ovarian failure | INHA |
Diabetes, MODY | INS |
Hyperproinsulinaemia | INS |
Cryptorchidism | INSL3 |
Fibre-type disproportion myopathy, congenital | INSR |
Acanthosis nigricans | INSR |
Insulin resistance A | INSR |
Insulin resistance | INSR |
Rabson-Mendenhall syndrome | INSR |
Diabetes, NIDDM | INSR |
Leprechaunism | INSR |
Acanthosis nigricans, insulin related | INSR |
Situs inversus with cardiac defects | INVS |
Nephronophthisis 2 | INVS |
Senior-Loken syndrome 5 | IQCB1 |
IRAK4 deficiency | IRAK4 |
Popliteal pterygium syndrome | IRF6 |
Van der Woude syndrome | IRF6 |
Diabetes, NIDDM | IRS1 |
Diabetes, NIDDM, susceptibility to | IRS1 |
Diabetes mellitus, type 2 | IRS1 |
Diabetes, type 2 | ISL1 |
Glanzmann thrombasthenia | ITGA2B |
Epidermolysis bullosa, junctional | ITGA6 |
Myopathy, congenital | ITGA7 |
Leukocyte adhesion deficiency | ITGB2 |
Thrombocytopaenia | ITGB3 |
Glanzmann thrombasthenia 2 | ITGB3 |
Glanzmann thrombasthenia 1 | ITGB3 |
Glanzmann thrombasthenia | ITGB3 |
Epidermolysis bullosa | ITGB4 |
Epidermolysis bullosa with pyloric atresia | ITGB4 |
Epidermolysis bullosa, without pyloric atresia | ITGB4 |
Epidermolysis bullosa simplex | ITGB4 |
Epidermolysis bullosa, junctional | ITGB4 |
Familial Danish dementia | ITM2B |
Familial British dementia | ITM2B |
Isovaleric acidaemia | IVD |
Hearing loss, heart defects and post. embryotoxon | JAG1 |
Biliary atresia, extrahepatic | JAG1 |
Alagille syndrome | JAG1 |
Tetralogy of Fallot | JAG1 |
Immunodeficiency, severe combined | JAK3 |
Mental retardation, X-linked | JARID1C |
Huntington disease-like 2 | JPH3 |
Naxos disease | JUP |
Kallmann syndrome | KAL1 |
Chondrodysplasia punctata | KAL1 |
Kallmann syndrome and ichthyosis | KAL1 |
Myokymia | KCNA1 |
Epilepsy partial and myokymia | KCNA1 |
Episodic ataxia / myokymia | KCNA1 |
Episodic ataxia | KCNA1 |
Atrial fibrillation | KCNA5 |
Epilepsy | KCNAB2 |
Spinocerebellar ataxia 13 | KCNC3 |
Long QT syndrome | KCNE1 |
Jervell and Lange-Nielsen syndrome | KCNE1 |
Cardiac arrhythmia | KCNE2 |
Long QT syndrome | KCNE2 |
Periodic paralysis | KCNE3 |
Atrial fibrillation, familial | KCNE3 |
Long QT syndrome | KCNH2 |
Short QT syndrome | KCNH2 |
Long QT syndrome, drug-associated | KCNH2 |
Bartter syndrome | KCNJ1 |
Diabetes mellitus | KCNJ11 |
Diabetes, transient neonatal | KCNJ11 |
Diabetes, neonatal | KCNJ11 |
Hypoglycaemia, persistent hyperinsulinaemic | KCNJ11 |
Diabetes, permanent neonatal | KCNJ11 |
Diabetes, juvenile-onset | KCNJ11 |
Hyperinsulinism | KCNJ11 |
Long QT syndrome | KCNJ2 |
Short QT syndrome | KCNJ2 |
Atrial fibrillation | KCNJ2 |
Andersen syndrome | KCNJ2 |
Ventricular tachycardia | KCNJ2 |
Generalized epilepsy and paroxysmal dyskinesia | KCNMA1 |
Jervell and Lange-Nielsen syndrome | KCNQ1 |
Sudden infant death syndrome | KCNQ1 |
Long QT syndrome | KCNQ1 |
Short QT syndrome | KCNQ1 |
Atrial fibrillation | KCNQ1 |
Beckwith-Wiedemann syndrome | KCNQ1OT1 |
Epilepsy, benign neonatal | KCNQ2 |
Epilepsy, benign neonatal | KCNQ3 |
Deafness, autosomal dominant 2 | KCNQ4 |
Cone dystrophy with supernormal rod ERG | KCNV2 |
Cornea plana 2 | KERA |
Essential fructosuria | KHK |
Deafness | KIAA1199 |
Goldberg-Shprintzen syndrome | KIAA1279 |
Charcot-Marie-Tooth disease 2a | KIF1B |
CFEOM1 & Marcus Gunn jaw-winking syndrome | KIF21A |
Congenital fibrosis of the extraocular muscles 1 | KIF21A |
Spastic paraplegia | KIF5A |
Hypogonadotropic hypogonadism, idiopathic | KISS1R |
Mastocytosis with haematologic disorder | KIT |
Mastocytosis | KIT |
Mastocytosis, diffuse cutaneous | KIT |
Piebaldism | KIT |
Gastrointestinal stromal tumour & mastocytosis | KIT |
Gastrointestinal tumour, stromal | KIT |
Kallikrein deficiency | KLK12 |
Amelogenesis imperfecta | KLK4 |
Prekallikrein deficiency | KLKB1 |
Kininogen deficiency | KNG1 |
Noonan syndrome | KRAS |
Cardio-facio-cutaneous syndrome | KRAS |
Cerebral cavernous malformations | KRIT1 |
Epidermolytic hyperkeratosis | KRT1 |
Ichthyosis hystrix | KRT1 |
Ichthyosis, with epidermolytic hyperkeratosis | KRT1 |
Keratoderma, striate palmoplantar | KRT1 |
Keratoderma, epidermolytic palmoplantar with tontubular keratin | KRT1 |
Keratoderma, non-epidermolytic palmoplantar | KRT1 |
Keratoderma, palmoplantar | KRT1 |
Epidermolytic hyperkeratosis | KRT10 |
Epidermolytic ichthyosis, annular | KRT10 |
Bullous erythroderma ichthyosiformis congenita | KRT10 |
Corneal dystrophy, Meesmann | KRT12 |
White sponge nevus | KRT13 |
Dermatopathia pigmentosa reticularis | KRT14 |
Epidermolysis bullosa, Koebner | KRT14 |
Naegeli syndrome | KRT14 |
Epidermolysis bullosa, Weber-Cockayne | KRT14 |
Epidermolysis bullosa simplex | KRT14 |
Epidermolysis bullosa, Dowling-Meara | KRT14 |
Pachyonychia congenita 1 | KRT16 |
Keratoderma, non-epidermolytic palmoplantar | KRT16 |
Pachyonychia congenita 1 | KRT17 |
Steatocystoma multiplex | KRT17 |
Pachyonychia congenita 2 | KRT17 |
Cryptogenic cirrhosis | KRT18 |
Ichthyosis bullosa, Siemens | KRT2 |
Corneal dystrophy, Meesmann | KRT3 |
Oral white sponge nevus | KRT4 |
White sponge nevus | KRT4 |
Dowling-Degos disease | KRT5 |
Epidermolysis bullosa, Weber-Cockayne | KRT5 |
Epidermolysis bullosa simplex | KRT5 |
Epidermolysis bullosa, Koebner | KRT5 |
Epidermolysis bullosa, Dowling-Meara | KRT5 |
Pachyonychia congenita 1 | KRT6A |
Pachyonychia congenita | KRT6B |
Inflammatory bowel disease | KRT8 |
Cryptogenic liver disease | KRT8 |
Monilethrix | KRT81 |
Monilethrix | KRT83 |
Ectodermal dyplasia, hair-nail type | KRT85 |
Monilethrix | KRT86 |
Keratoderma, epidermolytic palmoplantar | KRT9 |
MASA syndrome | L1CAM |
Hydrocephalus, X-linked | L1CAM |
Hydrocephalus, MASA | L1CAM |
Spastic paraplegia | L1CAM |
L-2-Hydroxyglutaric aciduria | L2HGDH |
Laminin alpha 2 chain deficiency, partial | LAMA2 |
Laminin alpha 2 chain deficiency | LAMA2 |
Cardiomyopathy, dilated, type 1A | LAMA2 |
Muscular dystrophy, merosin deficient | LAMA2 |
Epidermolysis bullosa, Herlitz | LAMA3 |
Epidermolysis bullosa, junctional | LAMA3 |
Laryngo-onycho-cutaneous syndrome | lama3a |
Pierson syndrome | LAMB2 |
Nephrotic syndrome | LAMB2 |
Epidermolysis bullosa, Herlitz | LAMB3 |
Epidermolysis bullosa, atrophic benign | LAMB3 |
Epidermolysis bullosa, junctional | LAMB3 |
Epidermolysis bullosa, junctional | LAMC2 |
Epidermolysis bullosa, Herlitz | LAMC2 |
Glycogen storage disease 2b | LAMP2 |
Danon disease | LAMP2 |
Danon disease | lamp2b |
Muscular dystrophy, congenital 1D | LARGE |
Pelger-Huet anomaly | LBR |
Greenberg skeletal dysplasia | LBR |
Fish eye disease | LCAT |
Lecithin:cholesterol acyltransferase deficiency | LCAT |
Reduced high density lipoprotein-cholesterol | LCAT |
Lactase deficiency, congenital | LCT |
Myofibrillar myopathy | LDB3 |
Cardiomyopathy, dilated | LDB3 |
Cardiomyopathy, dilated | ldb3z4 |
Lactate dehydrogenase deficiency | LDHA |
Lactate dehydrogenase deficiency | LDHB |
Hypercholesterolaemia | LDLR |
Hypercholesterolaemia, autosomal recessive | LDLRAP1 |
Left-right axis malformation | LEFTY2 |
Osteopoikilosis | LEMD3 |
Buschke-Ollendorff syndrome | LEMD3 |
Melorheostosis | LEMD3 |
Leptin deficiency | LEP |
Obesity, morbid | LEPR |
Spondylocostal dysostosis | LFNG |
Epilepsy, partial, with auditory features | LGI1 |
Epilepsy, lateral temporal lobe, autosom. dominant | LGI1 |
Hypogonadism | LHB |
Leydig cell hypoplasia & male pseudohermaphroditism | LHCGR |
Leydig cell hypoplasia | LHCGR |
Hypogonadism, male | LHCGR |
Luteinizing hormone resistance | LHCGR |
Pseudohermaphroditism | LHCGR |
Male precocious puberty | LHCGR |
Pseudohermaphroditism, male, incomplete | LHCGR |
Hypospadias and anorectal malformation | LHFPL5 |
Nonsyndromic hearing loss, autosomal recessive | LHFPL5 |
Pituitary hormone deficiency, combined | LHX3 |
Short stature | LHX4 |
Female infertility | LIF |
Stuve-Wiedemann syndrome | LIFR |
Immunodeficiency | LIG1 |
LIG4 syndrome | LIG4 |
Immunodeficiency, severe combined | LIG4 |
Cataract | LIM2 |
Cholesterol ester storage disease | LIPA |
Wolman syndrome | LIPA |
Hepatic lipase deficiency | LIPC |
Hyperlipidaemia | LIPC |
Adiposity, severe | LIPC |
Charcot-Marie-Tooth disease 1c | LITAF |
Factor V and factor VIII deficiency, combined | LMAN1 |
Acheiropodia | LMBR1 |
Preaxial polydactyly | LMBR1 |
Mandibuloacral dysplasia | LMNA |
Cardiac conduction defects | LMNA |
Charcot-Marie-Tooth disease 2 | LMNA |
Partial lipodystrophy, Dunnigan | LMNA |
Muscular dystrophy, Emery-Dreifuss | LMNA |
Myopathy, early-onset and progeria | LMNA |
Cardiocutaneous progeria syndrome | LMNA |
Werner syndrome, atypical | LMNA |
Muscular dystrophy, Emery-Dreifuss, neurogenic | LMNA |
Muscular dystrophy & peripheral neuropathy | LMNA |
Seip syndrome | LMNA |
Cardiomyopathy, dilated | LMNA |
Apical left ventricular aneurysm | LMNA |
Lipodystrophy and insulin-resistance | LMNA |
Muscle weakness, atrial fibrilation, hypertriglyceridaemia | LMNA |
Muscular dystrophy, limb girdle | LMNA |
Hutchinson-Gilford progeria syndrome | LMNA |
Cardiomyopathy, dilated, with conduction defect, type 1A | LMNA |
Cardiomyopathy, dilated, with conduction defect, type 1A | lmna1 |
Muscular dystrophy, congenital | lmna1 |
Muscular dystrophy, limb girdle | lmna1 |
Tight skin contracture syndrome | lmna1 |
Insulin resistance syndrome, type A | lmna1 |
Partial lipodystrophy, Dunnigan | lmna1 |
Hutchinson-Gilford progeria syndrome | lmna1 |
Werner syndrome | lmna1 |
Muscular dystrophy, Emery-Dreifuss | lmna1 |
Cardiomyopathy, dilated | lmna1 |
Lipodystrophy, partial, acquired | LMNB2 |
Nail patella syndrome | LMX1B |
Erythrokeratoderma, progressive symmetric | LOR |
Vohwinkel syndrome | LOR |
Lp(a) deficiency | LPA |
Majeed syndrome | LPIN2 |
Hypertriglyceridaemia | LPL |
Hyperlipidaemia | LPL |
Lipoprotein lipase deficiency, partial | LPL |
Lipoprotein lipase deficiency | LPL |
Chylomicronaemia | LPL |
Retinal dystrophy, early-onset severe | LRAT |
Osteosclerosis | LRP5 |
High bone mass trait | LRP5 |
Osteoporosis-pseudoglioma syndrome | LRP5 |
Osteoporosis, primary | LRP5 |
Osteopetrosis | LRP5 |
Endosteal hyperostosis | LRP5 |
Exudative vitreoretinopathy | LRP5 |
Cytochrome c oxidase deficiency | LRPPRC |
Agammaglobulinaemia | LRRC8A |
Parkinson disease | LRRK2 |
Marfan syndrome, atypical | LTBP2 |
Aspirin-intolerent asthma | LTC4S |
Decreased lipopolysaccharide-induced signaling | LY96 |
Chediak-Higashi syndrome | LYST |
Amyloidosis, systemic | LYZ |
Amyloidosis, renal | LYZ |
ALys amyloidosis, systemic | LYZ |
Cataract, ocular anterior dysgenesis and coloboma | MAF |
Cerulean cataract | MAF |
Mannosidosis, alpha | MAN2B1 |
Mannosidosis, beta, lysosomal | MANBA |
Monoamine oxidase deficiency | MAOA |
Cardio-facio-cutaneous syndrome | MAP2K1 |
Cardio-facio-cutaneous syndrome | MAP2K2 |
Epileptic encephalopathy | MAPK10 |
Diabetes, type 2 | MAPK8IP1 |
Parkinson disease | MAPT |
Frontotemporal dementia/corticobasal degeneration | MAPT |
Frontotemporal dementia, with parkinsonism | MAPT |
Supranuclear palsy, progressive | MAPT |
Frontotemporal dementia | MAPT |
Respiratory failure | MAPT |
Thrombocytopaenia | MASTL |
Methionine adenosyltransferase deficiency | MAT1A |
Spondyloepiphyseal dysplasia | MATN3 |
Multiple epiphyseal dysplasia | MATN3 |
Autism | MBD1 |
UV-induced skin damage, vulnerability to | MC1R |
Basal cell carcinoma | MC1R |
ACTH hypersensitivity syndrome | MC2R |
Glucocorticoid deficiency | MC2R |
Obesity | MC3R |
Obesity, autosomal dominant | MC4R |
Obesity, early onset | MC4R |
3-methylcrotonylglycinuria | MCCC1 |
3-methylcrotonyl-CoA carboxylase deficiency | MCCC1 |
3-methylcrotonyl-CoA carboxylase deficiency | MCCC2 |
3-methylcrotonylglycinuria | MCCC2 |
Methylmalonic aciduria | MCEE |
Factor V and Factor VIII deficiency, combined | MCFD2 |
Obesity | MCHR1 |
Mucolipidosis IV | MCOLN1 |
Primary microcephaly | MCPH1 |
Premature chromosome condensation syndrome | MCPH1 |
Rett syndrome, atypical | MECP2 |
Rett syndrome, preserved speech variant | MECP2 |
Angelman syndrome | MECP2 |
Neonatal encephalopathy, severe | MECP2 |
Rett syndrome | MECP2 |
Infantile autism | MECP2 |
Mental retardation and progressive spasticity | MECP2 |
Mental retardation, X-linked | MECP2 |
Rett syndrome | mecp2b |
Coronary artery disease and myocardial infarction | MEF2A |
Mediterranean fever, familial | MEFV |
Atypical endocrine neoplasia | MEN1 |
Multiple endocrine neoplasia 1 | MEN1 |
Hyperparathyroidism | MEN1 |
Adrenocortical tumour | MEN1 |
Parathyroid tumour | MEN1 |
Retinal dystrophy | MERTK |
Rod-cone dystrophy | MERTK |
Retinitis pigmentosa | MERTK |
Spondylocostal dysostosis | MESP2 |
Papillary renal carcinoma | MET |
Gastric cancer | MET |
Charcot-Marie-Tooth disease 2a | MFN2 |
Nanophthalmos hyperopia | MFRP |
Congenital disorder of glycosylation 2a | MGAT2 |
Keutel syndrome | MGP |
Psoriasis vulgaris | MGST2 |
Opitz G/BBB syndrome | MID1 |
Thyroid adenoma, follicular | MINPP1 |
Cataract, polymorphic and lamellar | MIP |
Cataract, autosomal dominant | MIP |
Craniofacial/acallosal CNS midline defects | MIPOL1 |
Tietz syndrome | MITF |
Waardenburg syndrome 2A | MITF |
Waardenburg syndrome 2 | MITF |
Waardenburg syndrome | MITF |
Bardet-Biedl syndrome | MKKS |
McKusick-Kaufman syndrome | MKKS |
Meckel syndrome | MKS1 |
Bipolar affective disorder | MLC1 |
Megalencephalic leukoencephalopathy | MLC1 |
Endometrial cancer | MLH1 |
Turcot syndrome | MLH1 |
Colorectal cancer, non-polyposis | MLH1 |
Colorectal / endometrial cancer | MLH1 |
Colorectal cancer | MLH1 |
Cystic sebaceous tumour | MLH1 |
Muir-Torre syndrome | MLH1 |
Colorectal cancer, non-polyposis | MLH3 |
Endometrial cancer | MLH3 |
Neuromotor dev. delay, cerebellar ataxia, epilepsy | MLLT3 |
Griscelli syndrome | MLPH |
Microphthalamia with linear skin defects | MLS |
Williams-Beuren syndrome | MLXIPL |
Malonyl-CoA decarboxylase deficiency | MLYCD |
Methylmalonic acidaemia | MMAA |
Methylmalonic aciduria | MMAB |
Methylmalonic aciduria, cblB type | MMAB |
Methylmalonic aciduria and metabolic ketoacidosis | MMAB |
Methylmalonic aciduria | MMACHC |
Fetomaternal alloimmunisation | MME |
Spondyloepimetaphyseal dysplasia, Missouri type | MMP13 |
Osteolysis, idiopathic, Saudi type | MMP2 |
Winchester disease | MMP2 |
Hypomaturation amelogenesis imperfecta | MMP20 |
Pigmented hypomaturation amelogenesis imperfecta | MMP20 |
Sacral agenesis | MNX1 |
Currarino syndrome | MNX1 |
Xanthinuria, type 2 | MOCOS |
Molybdenum cofactor deficiency | MOCS1 |
Molybdenum cofactor deficiency | mocs1b |
Molybdenum cofactor deficiency B | MOCS2 |
Molybdenum cofactor deficiency B | mocs2b |
Congenital disorder of glycosylation 1f | MPDU1 |
Congenital disorder of glycosylation 1b | MPI |
Amegakaryocytic thrombocytopaenia, congenital | MPL |
Myeloperoxidase deficiency | MPO |
Mitochondrial DNA depletion syndrome, hepatocerebral | MPV17 |
Dejerine-Sottas syndrome | MPZ |
Charcot-Marie-Tooth disease 2 | MPZ |
Charcot-Marie-Tooth disease 1 | MPZ |
Polyneuropathy | MPZ |
Charcot-Marie-Tooth disease 1b | MPZ |
Charcot-Marie-Tooth disease | MPZ |
Neuropathy motor / sensory, intermediate | MPZ |
Demyelinating neuropathy | MPZ |
Roussy-Levy syndrome | MPZ |
Glucocorticoid deficiency 2 | MRAP |
Ovarian cancer | MRE11A |
Ataxia telangiectasia-like disease | MRE11A |
Mitochondrial respiratory chain disorder | MRPS16 |
Atopy | MS4A2 |
Acute lymphocytic leukaemia and cafe-au-lait spots | MSH2 |
Colorectal / endometrial cancer | MSH2 |
Gastric cancer | MSH2 |
Colorectal cancer | MSH2 |
Colon cancer | MSH2 |
Endometrial cancer | MSH2 |
Muir-Torre syndrome | MSH2 |
CNS tumour and lymphoma | MSH2 |
Glioma | MSH2 |
Colorectal cancer, non-polyposis | MSH2 |
Colon cancer | MSH6 |
Colorectal cancer, non-polyposis | MSH6 |
Multiple colorectal adenoma | MSH6 |
Ovarian cancer | MSH6 |
Neurofibromatosis, type 1 | MSH6 |
Endometrial cancer | MSH6 |
Turcot syndrome | MSH6 |
Colorectal cancer | MSH6 |
Colon cancer, breast cancer, leukaemia | MSH6 |
Colorectal / endometrial cancer | MSH6 |
Colorectal cancer, early onset | MSH6 |
Cafe-au-lait, oligodendroglioma, rectal cancer | MSH6 |
Prostate cancer | MSR1 |
Muscle hypertrophy, gross | MSTN |
Witkop syndrome | MSX1 |
Cleft lip and palate | MSX1 |
Tooth agenesis | MSX1 |
Oligodontia in Wolf-Hirschhorn syndrome | MSX1 |
Tooth agenesis and orofacial clefting | MSX1 |
Foramina parietalia permagna | MSX2 |
Craniosynostosis | MSX2 |
Parietal foramina with cleidocranial dysplasia | MSX2 |
Enlarged parietal foramina | MSX2 |
Neural tube defect | MTHFD1 |
Homocystinuria | MTHFR |
Methylenetetrahydrofolate reductase deficiency | MTHFR |
Myotubular myopathy | MTM1 |
Demyelinating neuropathy | MTMR2 |
Charcot-Marie-Tooth disease 4b | MTMR2 |
Methionine synthase deficiency | MTR |
Methionine synthase reductase deficiency | MTRR |
Homocystinuria | MTRR |
Abetalipoproteinaemia | MTTP |
Congenital myasthenic syndrome | MUSK |
Methylmalonic aciduria | MUT |
Adenomatous polyposis coli, attenuated | MUTYH |
Colorectal cancer | MUTYH |
MYH polyposis | MUTYH |
Gastric cancer | MUTYH |
Adenomatous polyposis, attenuated/Muir-Torre synd | MUTYH |
Colorectal adenoma | MUTYH |
Adenomatous polyposis coli | MUTYH |
Cardiomyopathy, dilated | mvcl |
Periodic fever | MVK |
Hyperimmunoglobulin D and periodic fever syndrome | MVK |
Mevalonic kinase deficiency | MVK |
Mevalonic aciduria | MVK |
Cardiomyopathy, dilated | MYBPC3 |
Increased left ventricular wall thickness | MYBPC3 |
Cardiomyopathy, hypertrophic | MYBPC3 |
Feingold syndrome | MYCN |
Elevated creatine kinase levels | MYF6 |
Myopathy, dilatative | MYF6 |
Aortic aneurysm, familial thoracic 4 | MYH11 |
Hearing impairment | MYH14 |
Inclusion body myopathy | MYH2 |
Arthrogryposis, distal, type 2A | MYH3 |
Arthrogryposis, distal, type 2B | MYH3 |
Cardiomyopathy, hypertrophic | MYH6 |
Cardiomyopathy, dilated | MYH6 |
Atrial septal defect | MYH6 |
Myopathy, distal 1 | MYH7 |
Cardiomyopathy, dilated | MYH7 |
Myosin storage myopathy | MYH7 |
Increased left ventricular wall thickness | MYH7 |
Hyaline body myopathy | MYH7 |
Cardiomyopathy, hypertrophic | MYH7 |
Cardiac myxoma and distal arthrogryposis | MYH8 |
May-Hegglin anomaly | MYH9 |
Macrothrombocytopaenia without leukocyte inclusion | MYH9 |
Epstein/Fechtner syndrome | MYH9 |
Fechtner syndrome | MYH9 |
May-Hegglin anomaly/Sebastian syndrome | MYH9 |
Deafness, autosomal dominant 17 | MYH9 |
Sebastian syndrome | MYH9 |
Alport syndrome with macrothrombocytopaenia | MYH9 |
Macrothrombocytopaenia with leukocyte inclusions | MYH9 |
Cardiomyopathy, hypertrophic | MYL2 |
Increased left ventricular wall thickness | MYL3 |
Cardiomyopathy, hypertrophic | MYL3 |
Cardiomyopathy, hypertrophic | MYLK2 |
Sensorineural deafness in SMS | MYO15A |
Deafness, non-syndromic, autosomal recessive | MYO15A |
Sensorineural deafness, nonsyndromic | MYO1A |
Non-syndromic hearing loss | MYO3A |
Griscelli syndrome | MYO5A |
Cardiomyopathy, hypertrophic with deafness | MYO6 |
Deafness, autosomal recessive | MYO6 |
Deafness, autosomal dominant 22 | MYO6 |
Deafness, non-syndromic, autosomal recessive | MYO7A |
Usher syndrome 1 | MYO7A |
Usher syndrome, atypical | MYO7A |
Deafness, non-syndromic, autosomal dominant | MYO7A |
Usher syndrome 1b | MYO7A |
Glaucoma 1, open angle | MYOC |
Muscular dystrophy, limb girdle 1A | MYOT |
Myofibrillar myopathy | MYOT |
Myotilinopathy | MYOT |
Neuroaxonal dystrophy, infantile | NAGA |
N-acetylgalactosaminidase alpha deficiency | NAGA |
Sanfilippo syndrome B | NAGLU |
N-acetylglutamate synthase deficiency | NAGS |
Hyperammonaemia, carbamylglutamate responsive | NAGS |
Spinal muscular atrophy | NAIP |
Amyotrophic lateral sclerosis | NAIP |
Autism, idiopathic | NBEA |
Breast cancer | NBN |
Nijmegen breakage syndrome | NBN |
Acute lymphoblastic leukaemia | NBN |
Colorectal cancer | NBN |
Chronic granulomatous disease | NCF1 |
Chronic granulomatous disease | NCF2 |
Retinopathy of prematurity | NDP |
Norrie disease | NDP |
Exudative vitreoretinopathy | NDP |
Charcot-Marie-Tooth disease | NDRG1 |
Neuropathy, hereditary motor and sensory, Lom-type | NDRG1 |
Mitochondrial complex I deficiency | NDUFA12L |
Thyroid tumours | NDUFA13 |
Complex 1 deficiency | NDUFS1 |
Isolated Complex I deficiency | NDUFS2 |
Complex 1 deficiency | NDUFS3 |
Complex 1 and 3 deficiency, combined | NDUFS4 |
Complex 1 deficiency | NDUFS4 |
Mitochondrial complex I deficiency | NDUFS6 |
Leigh syndrome | NDUFS7 |
Isolated complex 1 deficiency | NDUFS8 |
Leigh syndrome | NDUFS8 |
Complex 1 deficiency | NDUFV1 |
Hypertrophic cardiomyopathy and encephalopathy | NDUFV2 |
Nemaline myopathy | NEB |
Nemaline myopathy | neb170 |
Nemaline myopathy | neb171 |
Amyotrophic lateral sclerosis | NEFH |
Charcot-Marie-Tooth disease 2 | NEFL |
Parkinson disease | NEFM |
Multiple colorectal adenoma | NEIL2 |
Multiple colorectal adenoma | NEIL3 |
Hypogonadotropic hypogonadism, idiopathic | NELF |
Sialidosis 1 | NEU1 |
Sialidosis 2 | NEU1 |
Sialidosis | NEU1 |
Diabetes mellitus, type 2 | NEUROD1 |
Diabetes, MODY | NEUROD1 |
Phaeochromocytoma | NF1 |
Neurofibromatosis, spinal | NF1 |
Neurofibromatosis 1 | NF1 |
Neurofibromatosis-Noonan syndrome | NF1 |
Neurofibromatosis 2 | NF2 |
Hodgkin lymphoma | NFKBIA |
Ectodermal dysplasia, anhidrotic with immune deficiency | NFKBIA |
Loss of pain perception | NGF |
Myoclonic epilepsy of Lafora | NHLRC1 |
Nance-Horan syndrome | NHS |
Spastic paraplegia, autosomal dominant | NIPA1 |
Cornelia de Lange syndrome | NIPBL |
Tetralogy of Fallot | NKX2-5 |
Thyroid dysgenesis | NKX2-5 |
Cardiac disease | NKX2-5 |
Atrial septal defect | NKX2-5 |
Congenital heart disease, non-syndromic | NKX2-5 |
Autism | NLGN3 |
Mental retardation | NLGN4X |
Autism | NLGN4X |
Recurrent fever and amyloidosis | NLRP3 |
CINCA syndrome | NLRP3 |
Cryopyrin-associated periodic syndrome | NLRP3 |
Muckle-Wells syndrome | NLRP3 |
Familial cold autoinflammatory syndrome | NLRP3 |
Hydatidiform mole | NLRP7 |
Neuroblastoma | NME1 |
Blau syndrome | NOD2 |
Granulomatous arthritis, paediatric | NOD2 |
Sarcoidosis, early onset | NOD2 |
Synovitis, granulomatous, with uveitis | NOD2 |
Situs ambiguus | NODAL |
Fibrodysplasia ossificans progressiva | NOG |
Facioaudiosymphalangism syndrome | NOG |
Teunissen-Cremers syndrome | NOG |
Symphalangism, proximal | NOG |
Multiple synostoses syndrome | NOG |
Tarsal/carpal coalition syndrome | NOG |
Stapes ankylosis with broad thumb and toes | NOG |
Premature ovarian failure and prox. symphalangism | NOG |
Aortic valve disease | NOTCH1 |
Alagille syndrome | NOTCH2 |
CADASIL | NOTCH3 |
CADASIL with varicose veins | NOTCH3 |
Nucleoside phosphorylase deficiency | NP |
Schizophrenia | NPAS3 |
Niemann-Pick type II disease | NPC1 |
Niemann-Pick disease D | NPC1 |
Niemann-Pick disease C | NPC1 |
Niemann-Pick type C2 disease | NPC2 |
Nephronophthisis 1 | NPHP1 |
Nephronophthisis 1 with COMA | NPHP1 |
Nephronophthisis 3 | NPHP3 |
Nephronophthisis 4 | NPHP4 |
Congenital nephrotic syndrome, Finnish type | NPHS1 |
Focal segmental glomerulosclerosis | NPHS1 |
Nephrotic syndrome, steroid resistant | NPHS2 |
Focal segmental glomerulosclerosis | NPHS2 |
Acromesomelic dysplasia, Maroteaux type | NPR2 |
Short stature | NPR2 |
Adrenal hypoplasia | NR0B1 |
Adrenal insufficiency | NR0B1 |
Obesity | NR0B2 |
Enhanced S cone syndrome | NR2E3 |
Glucocorticoid receptor deficiency | NR3C1 |
Pseudohypoaldosteronism 1 | NR3C2 |
Hypertension, early onset exacerbated in pregnancy | NR3C2 |
Schizophrenia | NR4A2 |
Parkinson disease | NR4A2 |
Bipolar disorder | NR4A2 |
Adrenocortical insuff. without ovarian defect | NR5A1 |
XY sex reversal, with adrenal failure | NR5A1 |
XY sex reversal, without adrenal failure | NR5A1 |
Enhanced S cone syndrome | NRL |
Retinitis pigmentosa | NRL |
Clumped pigmentary retinal degeneration | NRL |
Sotos-like syndrome | NSD1 |
Beckwith-Wiedemann syndrome | NSD1 |
Weaver syndrome | NSD1 |
Gigantism | NSD1 |
Sotos syndrome | NSD1 |
CHILD syndrome | NSDHL |
Pyrimidine 5' nucleotidase deficiency | NT5C3 |
Haemolytic anaemia | NT5C3 |
Rett syndrome | NTNG1 |
Sensory and autonomic neuropathy type IV | NTRK1 |
Sensory and autonomic neuropathy type V | NTRK1 |
Pain insensitivity, congenital | NTRK1 |
Obesity, hyperphagia, and developmental delay | NTRK2 |
Striatonigral degeneration, infantile | NUP62 |
Night blindness, congenital stationary | NYX |
Gyrate atrophy | OAT |
Albinism, oculocutaneous II | OCA2 |
Lowe oculocerebrorenal syndrome | OCRL |
Dent disease | OCRL |
Oral-facial-digital syndrome 1 | OFD1 |
Multiple colorectal adenoma | OGG1 |
Optic atrophy 1 | OPA1 |
3-methylglutaconicaciduria, type III | OPA3 |
Optic atrophy and cataract | OPA3 |
Mental retardation and epilepsy | OPHN1 |
Cerebellar hypoplasia | OPHN1 |
Mental retardation syndrome, X-linked | OPHN1 |
Mental retardation, seizures, ataxia, hypotonia | OPHN1 |
Protan colour-vision defect | OPN1LW |
Visual dichromacy | OPN1LW |
Protanopia | OPN1LW |
Cone degeneration, X-linked | OPN1LW |
Blue cone monochromatism | OPN1LW |
Trichromacy, deutan | OPN1MW |
Protan colour-vision defect | OPN1MW |
Visual dichromacy | OPN1MW |
Deuteranopia | OPN1MW |
Blue cone monochromatism | OPN1MW |
Tritanopia | OPN1SW |
Glaucoma 1, open angle | OPTN |
X-linked cone dystrophy | orf15 |
Retinitis pigmentosa | orf15 |
Osteopetrosis, autosomal recessive | OSTM1 |
Ornithine transcarbamylase deficiency | OTC |
Hyperammonaemia | OTC |
Deafness, autosomal recessive | OTOA |
Deafness, non-syndromic | OTOF |
Ocular malformations | OTX2 |
3-oxoacid CoA transferase deficiency | OXCT1 |
Melanoma / nervous system tumours | p14arf |
Melanoma | p14arf |
Head and neck cancer | p14arf |
Colon Carcinoma | p14arf |
Platelet ADP receptor defect | P2RX1 |
Allogenic cytotoxic T lymphocyte response | P2RX5 |
Platelet ADP receptor defect | P2RY12 |
Oculopharyngeal muscular dystrophy | PABPN1 |
Lissencephaly, isolated | PAFAH1B1 |
Miller-Dieker lissencephaly syndrome | PAFAH1B1 |
Subcortical band heterotopia | PAFAH1B1 |
Mental retardation, ataxia & atrophy of the brain | PAFAH1B3 |
Hyperphenylalaninaemia | PAH |
Phenylketonuria | PAH |
Mental retardation syndrome, X-linked | PAK3 |
Pantothenate kinase-associated neurodegeneration | PANK2 |
HARP syndrome | PANK2 |
Spondyloepiphyseal dysplasia | PAPSS2 |
Parkinson disease, early-onset | PARK2 |
Parkinson disease, late-onset | PARK2 |
Parkinson disease, autosomal recessive | PARK2 |
Parkinsonism, juvenile, autosomal recessive | PARK2 |
Parkinsonism & amyotrophic lateral sclerosis | PARK7 |
Parkinson disease, autosomal recessive | PARK7 |
Klippel-Feil syndrome | PAX1 |
Spina bifida | PAX1 |
Macular abnormalities | PAX2 |
Renal-coloboma syndrome | PAX2 |
Optic-renal malformation | PAX2 |
Renal hypoplasia | PAX2 |
Multicystic dysplastic kidney | PAX2 |
Waardenburg syndrome | PAX3 |
Waardenburg syndrome III | PAX3 |
Waardenburg syndrome I | PAX3 |
Craniofacial-deafness-hand syndrome | PAX3 |
Diabetes, type 2 | PAX4 |
Ectopia pupillae | PAX6 |
Cataract, secondary glaucoma | PAX6 |
Ocular anterior segment anomaly | PAX6 |
Pineal gland, absence of | PAX6 |
WAGR syndrome | PAX6 |
Cataract, with nystagmus | PAX6 |
Nystagmus | PAX6 |
Aniridia | PAX6 |
Keratitis, autosomal dominant | PAX6 |
Foveal hypoplasia, isolated | PAX6 |
Peters' anomaly | PAX6 |
Optic-nerve malformations | PAX6 |
Aniridia | pax6tv2 |
Peter's anomaly | pax6tv2 |
Thyroid hypoplasia | PAX8 |
Oligodontia | PAX9 |
Hypodontia | PAX9 |
Oligodontia, molar | PAX9 |
Pyruvate carboxylase deficiency | PC |
Hyperphenylalaninaemia | PCBD1 |
Propionic acidaemia | PCCA |
Propionic acidaemia | PCCB |
Usher syndrome 1f | PCDH15 |
Deafness, non-syndromic, autosomal recessive | PCDH15 |
Protocadherin deficiency | PCDHA10 |
Obesity and impaired prohormone processing | PCSK1 |
Hypercholesterolaemia, autosomal dominant | PCSK9 |
Hypocholesterolaemia | PCSK9 |
Cerebral cavernous malformation | PDCD10 |
Adrenocortical hyperplasia | PDE11A |
Schizophrenia | PDE4B |
Retinitis pigmentosa | PDE6A |
Retinitis pigmentosa | PDE6B |
Nightblindness, stationary | PDE6B |
Cone dystrophy | PDE6H |
Meningioma | PDGFB |
Gastrointestinal stromal tumour | PDGFRA |
Lactic acidosis | PDHA1 |
Leigh syndrome | PDHA1 |
Pyruvate dehydrogenase deficiency | PDHA1 |
Pyruvate dehydrogenase deficiency | PDHB |
Pyruvate dehydrogenase complex deficiency | PDHX |
Diabetes mellitus, type 2 | PDX1 |
Pancreatic agenesis | PDX1 |
Diabetes mellitus, type 2 & gestational | PDX1 |
Prolidase deficiency | PEPD |
Familial advanced sleep phase syndrome | PER2 |
Neonatal adrenoleukodystrophy | PEX1 |
Peroxisome biogenesis disorder | PEX1 |
Refsum disease, infantile | PEX1 |
Zellweger syndrome | PEX1 |
Zellweger syndrome | PEX10 |
Neonatal adrenoleukodystrophy | PEX10 |
Peroxisome biogenesis disorder 3 | PEX12 |
Zellweger syndrome H | PEX13 |
Neonatal adrenoleukodystrophy | PEX13 |
Zellweger syndrome | PEX14 |
Zellweger syndrome, complementation group D | PEX16 |
Zellweger syndrome | PEX16 |
Zellweger syndrome, complementation group J | PEX19 |
Refsum disease, infantile | PEX26 |
Peroxisome biogenesis disorder | PEX26 |
Zellweger syndrome | PEX26 |
Zellweger syndrome G | PEX3 |
Adrenoleukodystrophy | PEX5 |
Refsum disease, infantile | PEX5 |
Zellweger syndrome C | PEX6 |
Neonatal adrenoleukodystrophy | PEX6 |
Peroxisome biogenesis disorder | PEX6 |
Peroxisome biogenesis disorder 4 | PEX6 |
Rhizomelic chondrodysplasia punctata | PEX7 |
Refsum disease | PEX7 |
Glycogen storage disease 7 | PFKM |
Phosphoglycerate mutase deficiency | PGAM1 |
Phosphoglycerate mutase deficiency | PGAM2 |
Phosphoglycerate mutase deficiency, partial | PGAM2 |
Phosphoglycerate kinase deficiency | PGK1 |
Insensitivity to mifepristone | PGR |
Rickets, hypophosphataemic | PHEX |
Borjeson-Forssman-Lehmann syndrome | PHF6 |
X-linked mental retardation & cleft lip/palate | PHF8 |
3-phosphoglycerate dehydrogenase deficiency | PHGDH |
Phosphorylase kinase deficiency | PHKA1 |
Liver glycogenosis 1 | PHKA2 |
Liver glycogenosis 2 | PHKA2 |
Liver glycogenosis | PHKB |
Phosphorylase kinase deficiency | PHKG2 |
Fibrosis of extraocular muscles type 2 | PHOX2A |
Neuroblastoma | PHOX2B |
Hirschsprung disease | PHOX2B |
Central hypoventilation syndrome | PHOX2B |
Refsum disease | PHYH |
Glycosylphosphatidylinositol deficiency | PIGM |
Parkinson disease, autosomal recessive | PINK1 |
Parkinson disease, early-onset | PINK1 |
Corneal fleck dystrophy | PIP5K3 |
Iris hypoplasia | PITX2 |
Rieger syndrome | PITX2 |
Peter anomaly | PITX2 |
Iridogoniodysgenesis syndrome | PITX2 |
Ring dermoid of the cornea | PITX2 |
Axenfeld-Rieger syndrome | PITX2 |
Omphalocele | PITX2 |
Craniofacial/acallosal CNS midline defects | PITX2 |
Congenital cataract | PITX3 |
Anterior segment mesenchymal dysgenesis | PITX3 |
Polycystic kidney disease 1 | PKD1 |
Polycystic kidney disease 2 | PKD2 |
Polycystic kidney disease | PKHD1 |
Pyruvate kinase deficiency | PKLR |
Haemolytic anaemia | PKLR |
Elevated red cell ATP | PKLR |
Ectodermal dysplasia/skin fragility syndrome | PKP1 |
Arrhythmogenic right ventricular dysplasia | PKP2 |
Colorectal cancer | PLA2G2A |
Infantile neuroaxonal dystrophy 1 | PLA2G6 |
Infantile neuroaxonal dystrophy with brain iron accumulation | PLA2G6 |
Neurodegeneration with brain iron accumulation | PLA2G6 |
PAF acetylhydrolase deficiency | PLA2G7 |
Alzheimer disease | PLCD1 |
Epidermolysis bullosa with pyloric atresia | PLEC1 |
Epidermolysis bullosa simplex | PLEC1 |
Muscular dystrophy with epidermolysis bullosa | PLEC1 |
Cerebellar ataxia, autosomal dominant | PLEKHG4 |
Plasminogen deficiency | PLG |
Cardiomyopathy | PLN |
Cardiomyopathy, dilated | PLN |
Ehlers-Danlos syndrome VI | PLOD1 |
Bruck syndrome | PLOD2 |
Spastic paraplegia | PLP1 |
Pelizaeus-Merzbacher disease | PLP1 |
Spastic paraplegia 2 | PLP1 |
Congenital disorder of glycosylation 1a | PMM2 |
Charcot-Marie-Tooth disease with deafness | PMP22 |
Dejerine-Sottas syndrome | PMP22 |
Charcot-Marie-Tooth disease with slow nerve conduction velocity | PMP22 |
Charcot-Marie-Tooth disease 1 | PMP22 |
Neuropathy, liability to pressure palsies | PMP22 |
Charcot-Marie-Tooth disease 1a | PMP22 |
Colorectal cancer, non-polyposis | PMS1 |
Colorectal cancer, non-polyposis | PMS2 |
Neuroectodermal tumours and cafe-au-lait spots | PMS2 |
Turcot syndrome | PMS2 |
Paroxysmal nonkinesiogenic dyskinesia | PNKD |
Epileptic encephalopathy, neonatal | PNPO |
Encephalopathy | POLG |
Alpers syndrome | POLG |
Ataxic neuropathy | POLG |
Progressive external ophthalmoplegia | POLG |
Parkinson disease, early-onset | POLG |
SANDO | POLG |
Progressive external ophthalmoplegia | POLG2 |
Xeroderma pigmentosum, variant | POLH |
Obesity, adrenal insufficiency and red hair | POMC |
Obesity | POMC |
Muscle-eye-brain disease | POMGNT1 |
Motor disability, microcephaly, mental retardation | POMT1 |
Muscular dystrophy, congenital/mental retardation | POMT1 |
Muscular dystrophy, limb girdle | POMT1 |
Walker-Warburg syndrome | POMT1 |
Muscle-eye-brain like disease | POMT2 |
Walker-Warburg syndrome | POMT2 |
Adrenal hyperplasia | POR |
Antley-Bixler syndrome | POR |
Disordered steroidogenesis | POR |
Pituitary hormone deficiency | POU1F1 |
X-linked mixed deafness | POU3F4 |
Deafness, non-syndromic, autosomal dominant | POU4F3 |
Obesity | PPARG |
Insulin resistance | PPARG |
Insulin resistance, diabetes and hypertension | PPARG |
Partial lipodystrophy | PPARG |
Pyruvate dehydrogenase phosphatase deficiency | PPM2C |
Porphyria, variegate | PPOX |
Insulin resistance | PPP1R3A |
Spinocerebellar ataxia 12 | PPP2R2B |
Neuronal ceroid lipofuscinosis, infantile | PPT1 |
Neuronal ceroid lipofuscinosis, juvenile | PPT1 |
Neuronal ceroid lipofuscinosis, adult | PPT1 |
Neuronal ceroid lipofuscinosis, late infantile | PPT1 |
Golabi-Ito-Hall syndrome | PQBP1 |
Mental retardation | PQBP1 |
Proline-rich protein PRB1 deficiency | PRB1 |
Proline-rich protein PRB3 deficiency | PRB3 |
Proline-rich protein PRB4 deficiency | PRB4 |
Hypotonia-Cystinuria syndrome | PREPL |
Haemophagocytic lymphohistiocytosis, familial | PRF1 |
Chronic active Epstein-Barr virus infection | PRF1 |
Camptodactyly-arthropathy-coxa vara-pericarditis | PRG4 |
Cardiac glycogenosis | PRKAG2 |
Cardiomyopathy, hypertrophic | PRKAG2 |
Wolff-Parkinson-White syndrome | PRKAG2 |
Carney complex, type 1 | PRKAR1A |
Myxoma, intracardiac | PRKAR1A |
Carney complex | PRKAR1A |
Cushing syndrome | PRKAR1A |
Spinocerebellar ataxia 14 | PRKCG |
Retinitis pigmentosa | PRKCG |
Polycystic liver disease | PRKCSH |
Creutzfeldt-Jakob disease | PRND |
Gerstmann-Straeussler syndrome | PRNP |
Schizophrenia | PRNP |
Creutzfeldt-Jakob syndrome | PRNP |
Dementia | PRNP |
Encephalopathy, familial | PRNP |
Prion disease | PRNP |
Spongiform encephalopathy, familial | PRNP |
Protein C deficiency | PROC |
Increased proline level in schizophrenia | PRODH |
Retinal degeneration | PROM1 |
Hypogonadotropic hypogonadism | PROP1 |
Pituitary hormone deficiency | PROP1 |
Protein S deficiency | PROS1 |
Thrombosis | PROZ |
Protein Z deficiency | PROZ |
Retinitis pigmentosa | PRPF3 |
Retinitis pigmentosa | PRPF31 |
Retinitis pigmentosa | PRPF8 |
Amyotrophic lateral sclerosis | PRPH |
Cone-rod degeneration | PRPH2 |
Butterfly dystrophy | PRPH2 |
Retinitis punctata albescens | PRPH2 |
Central areolar choroidal dystrophy | PRPH2 |
Retinal pattern dystrophy | PRPH2 |
Pattern dystrophy | PRPH2 |
Pattern/cone-rod dystrophy | PRPH2 |
Foveamacular dystrophy | PRPH2 |
Macular dystrophy | PRPH2 |
Foveamacular dystrophy, adult onset | PRPH2 |
Retinitis pigmentosa | PRPH2 |
Cone dystrophy | PRPH2 |
Foveal dystrophy | PRPH2 |
Cone-rod dystrophy | PRPH2 |
Phosphoribosylpyrophosphate synthetase superactivity | PRPS1 |
Pancreatitis, chronic | PRSS1 |
Pancreatitis, protection against | PRSS1 |
Pancreatitis, hereditary | PRSS1 |
Mental retardation | PRSS12 |
Enteropeptidase deficiency | PRSS7 |
Dejerine-Sottas syndrome | PRX |
Charcot-Marie-Tooth disease | PRX |
Charcot-Marie-Tooth disease 4 | PRX |
Saposin A deficiency | PSAP |
Metachromatic leukodystrophy | PSAP |
Prosaposin deficiency | PSAP |
Gaucher disease, atypical | PSAP |
Frontotemporal dementia | PSEN1 |
Alzheimer disease | PSEN1 |
Presenile dementia and parkinsonism | PSEN1 |
Language impairment | PSEN1 |
Dementia with Lewy bodies and Alzheimer disease | PSEN1 |
Subcortical dementia and parkinsonism | PSEN1 |
Alzheimer disease, early onset | PSEN1 |
Alzheimer disease | PSEN2 |
Alzheimer disease | PSENEN |
3-phosphoserine phosphatase deficiency | PSPH |
PAPA syndrome | PSTPIP1 |
Nevoid basal cell carcinoma syndrome | PTCH1 |
Holoprosencephaly | PTCH1 |
Cowden disease | PTEN |
PTEN hamartoma-tumour syndrome | PTEN |
Proteus-like syndrome | PTEN |
Multiple cancers | PTEN |
Breast cancer | PTEN |
Cowden disease / Sjogren's syndrome | PTEN |
Juvenile polyposis coli | PTEN |
Proteus syndrome | PTEN |
Squamous cell carcinoma | PTEN |
Bannayan-Riley-Ruvalcaba syndrome | PTEN |
Autism spectrum disorder and macrocephaly | PTEN |
Lhermitte-Duclos disease | PTEN |
Complex atypical hyperplasia | PTEN |
Hyperplastic polyps and tubular adenomas | PTEN |
Bannayan-Zonana syndrome | PTEN |
Pancreatic and cerebellar agenesis | PTF1A |
Hypertension | PTGIS |
Hypoparathyroidism | PTH |
Eiken skeletal dysplasia | PTHR1 |
Metaphyseal chondrodysplasia | PTHR1 |
Osteochondrodysplasia, Blomstrand | PTHR1 |
Noonan syndrome | PTPN11 |
ML / LEOPARD syndrome | PTPN11 |
Atrioventricular septal defect | PTPN11 |
Immunodeficiency, severe combined | PTPRC |
Hyperphenylalaninaemia | PTS |
Tetrahydrobiopterin deficiency | PTS |
Mitochondrial myopathy and sideroblastic anaemia | PUS1 |
Ectodermal dysplasia, cleft lip / palate | PVRL1 |
Cleft lip / palate | PVRL1 |
Peroxisome biogenesis disorder | PXMP3 |
Zellweger syndrome | PXMP3 |
Refsum disease, infantile | PXMP3 |
Glycogen storage disease 6 | PYGL |
McArdle disease | PYGM |
Dihydropteridine reductase deficiency | QDPR |
Tetrahydrobiopterin deficiency | QDPR |
Griscelli syndrome | RAB27A |
Warburg micro syndrome 1 | RAB3GAP1 |
Martsolf syndrome | RAB3GAP2 |
Sensory neuropathy | RAB7A |
Charcot-Marie-Tooth disease 2b | RAB7A |
Neutrophil immunodeficiency syndrome | RAC2 |
Breast and/or ovarian cancer | RAD50 |
Breast cancer | RAD51 |
Breast cancer | RAD54L |
Acute myeloid leukaemia | RAF1 |
CMV infection | RAG1 |
Immunodeficiency, severe combined | RAG1 |
Atypical SCID/Omenn syndrome | RAG1 |
Immunodeficiency, severe combined, B cell -ve | RAG1 |
Immunodeficiency, severe combined, T & B cell -ve | RAG1 |
Omenn syndrome | RAG1 |
Atypical SCID/Omenn syndrome | RAG2 |
Immunodeficiency, severe combined | RAG2 |
Immunodeficiency, severe combined, T & B cell -ve | RAG2 |
Immunodeficiency, severe combined, B cell -ve | RAG2 |
Omenn syndrome | RAG2 |
Smith-Magenis syndrome | RAI1 |
Congenital myasthenic syndrome | RAPSN |
Capillary malformation-arteriovenous malformation | RASA1 |
Anophthalmia and sclerocornea | RAX |
Cone-rod dystrophy | RAXL1 |
Macular degeneration, age related | RAXL1 |
Retinoblastoma | RB1 |
Acute megakaryocytic leukaemia | RBM15 |
Retinol deficiency | RBP4 |
Retinal dystrophy | RDH12 |
Leber congenital amaurosis | RDH12 |
Fundus albipunctatus | RDH5 |
Rothmund-Thomson syndrome | RECQL4 |
Baller-Gerold syndrome | RECQL4 |
RAPADILINO syndrome | RECQL4 |
Rothmund-Thomson syndrome and RAPADILINO syndrome | RECQL4 |
Spastic paraplegia 31 | REEP1 |
Lissencephaly with cerebellar hypoplasia | RELN |
Renal tubular dysgenesis | REN |
Prorenin elevation | REN |
Multiple endocrine neoplasia 2 | RET |
Multiple endocrine neoplasia 2A | RET |
Hirschsprung disease | RET |
Elevated basal serum calcitonin | RET |
Aganglionosis, total colonic | RET |
Thyroid cancer | RET |
Phaeochromocytoma and paraganglioma | RET |
Autonomic control, congenital failure of | RET |
Multifollicular thyroid carcinoma | RET |
Multiple endocrine neoplasia 2B | RET |
Thyroid carcinoma, familial medullary | RET |
Williams-Beuren syndrome | RFC2 |
Bare lymphocyte syndrome | RFX5 |
MHC class II deficiency | RFXANK |
Bare lymphocyte syndrome, complementation group B | RFXANK |
Bare lymphocyte syndrome, complementation group D | RFXAP |
Retinitis pigmentosa | RGR |
Hypertension | RGS2 |
Prolonged electroretinal response suppression | RGS9 |
Prolonged electroretinal response suppression | RGS9BP |
Rh-deficiency syndrome | RHAG |
Rh-mod syndrome | RHAG |
Rh-null syndrome | RHAG |
Rh-deficiency syndrome | RHCE |
Retinitis pigmentosa | RHO |
Nightblindness | RHO |
Cone-rod dystrophy | RIMS1 |
Retinitis pigmentosa, autosomal recessive | RLBP1 |
Cone-rod dystrophy | RLBP1 |
Retinitis punctata albescens | RLBP1 |
Bothnia dystrophy | RLBP1 |
Cartilage-Hair hypoplasia | RMRP |
Anauxetic dysplasia | RMRP |
Dwarfism, immune deficiency, aplastic anaemia | RMRP |
Metaphyseal dysplasia without hypotrichosis | RMRP |
Aicardi-Goutieres syndrome | RNASEH2A |
Aicardi-Goutieres syndrome | RNASEH2B |
Aicardi-Goutieres syndrome | RNASEH2C |
Ribonuclease L deficiency | RNASEL |
Prostate cancer | RNASEL |
Renal cell carcinoma, hereditary | RNF139 |
Gaze palsy, horizontal, with progressive scoliosis | ROBO3 |
Retinitis pigmentosa | ROM1 |
Robinow syndrome, autosomal recessive | ROR2 |
Brachydactyly, type B | ROR2 |
Obesity | RORA |
Retinitis pigmentosa | RP1 |
Retinitis pigmentosa & mental retardation | RP2 |
Retinitis pigmentosa, X-linked | RP2 |
Retinitis pigmentosa | RP9 |
Cone-rod dystrophy, early-onset, severe | RPE65 |
Leber congenital amaurosis | RPE65 |
Retinal dystrophy, autosomal recessive | RPE65 |
Retinal dystrophy, severe, childhood onset | RPE65 |
Retinitis pigmentosa | RPE65 |
Retinitis pigmentosa | RPGR |
Cone-rod dystrophy | RPGRIP1 |
Leber congenital amaurosis | RPGRIP1 |
Retinitis pigmentosa, isolated | RPGRIP1 |
Ribose-5-phosphate isomerase deficiency | RPIA |
Diamond-Blackfan anaemia | RPS19 |
Coffin-Lowry syndrome | RPS6KA3 |
Mental retardation, non-specific | RPS6KA3 |
Retinoschisis, X linked juvenile | RS1 |
Platelet disorder, familial | RUNX1 |
Thrombocytopaenia | RUNX1 |
Cleidocranial dysplasia | RUNX2 |
Cryptorchidism | RXFP2 |
Core/rod disease | RYR1 |
Multi-minicore disease | RYR1 |
Malignant hyperthermia | RYR1 |
Myopathy, congenital | RYR1 |
Central core disease | RYR1 |
Ventricular tachycardia, polymorphic | RYR2 |
Arrhythmogenic right ventricular dysplasia type 2 | RYR2 |
Ataxia, early-onset | SACS |
Spastic ataxia | SACS |
Ataxia | SACS |
Spastic ataxia, Charlevoix-Saguenay | SACS |
Oguchi disease | SAG |
Townes-Brocks syndrome | SALL1 |
VACTERL | SALL4 |
Okihiro syndrome | SALL4 |
Acro-renal-ocular syndrome | SALL4 |
Holt-Oram syndrome | SALL4 |
Cranial midline defects/ mild Okihiro syndrome | SALL4 |
Tumoural calcinosis, normophosphataemic | SAMD9 |
Chylomicron retention disease | SAR1B |
Chylomicron retention disease with Marinesco-Sjogren syndrome | SAR1B |
Disseminated superficial actinic porokeratosis | SART3 |
Shwachman-Diamond syndrome | SBDS |
Charcot-Marie-Tooth disease 4b2 | SBF2 |
Lathosterolosis | SC5DL |
Generalized epilepsy of infancy | SCN1A |
Generalized epilepsy with febrile seizures plus | SCN1A |
Hemiplegic migraine | SCN1A |
Myoclonic epilepsy of infancy | SCN1A |
Febrile seizures | SCN1A |
Generalised epilepsy with febrile seizures plus 2 | SCN1A |
Epilepsy, generalised, with febrile seizures | SCN1B |
Febrile and afebrile seizures | SCN2A |
Neonatal-infantile seizures | SCN2A |
Intractable epilepsy and mental decline | SCN2A |
Normokalaemic periodic paralysis | SCN4A |
Hyperkalaemic periodic paralysis | SCN4A |
Myotonia | SCN4A |
Paramyotonia congenita | SCN4A |
Paramyotonia congenita, von Eulenburg | SCN4A |
Hypokalaemic periodic paralysis | SCN4A |
Cardiac conduction disease | SCN5A |
Brugada syndrome | SCN5A |
Lenegre-Lev disease | SCN5A |
Brugada syndrome, asymptomatic | SCN5A |
Sudden unexplained nocturnal death syndrome | SCN5A |
Atrial standstill | SCN5A |
Sudden adult death syndrome | SCN5A |
Long QT syndrome | SCN5A |
Romano-Ward syndrome | SCN5A |
Sudden infant death syndrome | SCN5A |
Atrioventricular conduction block | SCN5A |
Ventricular fibrillation, idiopathic | SCN5A |
Nodal rhythm | SCN5A |
Cardiomyopathy, dilated | SCN5A |
Long QT syndrome, drug-associated | SCN5A |
Ataxia | SCN8A |
Erythermalgia, primary | SCN9A |
Pseudohypoaldosteronism 1 | SCNN1A |
Cystic fibrosis, non-classic | SCNN1A |
Cystic fibrosis, non-classic | SCNN1B |
Hypertension | SCNN1B |
Pseudohypoaldosteronism 1 | SCNN1B |
Liddle syndrome | SCNN1B |
Liddle syndrome | SCNN1G |
Hypertension | SCNN1G |
Pseudohypoaldosteronism 1 | SCNN1G |
Cytochrome c oxidase deficiency | SCO1 |
Cytochrome c oxidase deficiency | SCO2 |
SCP2 deficiency | SCP2 |
Complex II deficiency | SDHA |
Leigh syndrome | SDHA |
Optic atrophy, ataxia, myopathy | SDHA |
Paraganglioma | SDHB |
Phaeochromocytoma and paraganglioma | SDHB |
Phaeochromacytoma | SDHB |
Paraganglioma, autosomal dominant 3 | SDHC |
Paraganglioma | SDHC |
Paraganglioma | SDHD |
Phaeochromocytoma | SDHD |
Paraganglioma and phaeochromocytoma | SDHD |
Cranio-lenticulo-sutural dysplasia | SEC23A |
Polycystic liver disease | SEC63 |
Abnormal thyroid hormone metabolism | SECISBP2 |
CHARGE syndrome | SEMA3E |
Retinitis pigmentosa | SEMA4A |
SEPN-related myopathy | SEPN1 |
Multiminicore disease | SEPN1 |
Mallory body-like inclusions | SEPN1 |
Rigid spine muscular dystrophy 1 | SEPN1 |
Neuritis with brachial predilection, NAPB | SEPT9 |
Darier disease | serca2b |
Antitrypsin alpha 1 deficiency | SERPINA1 |
Asthma | SERPINA1 |
Venous thromboembolic disease | SERPINA10 |
Obstructive lung disease | SERPINA3 |
Occlusive cerebrovascular disease | SERPINA3 |
Corticosteroid-binding globulin deficiency | SERPINA6 |
Thyroxine-binding globulin deficiency | SERPINA7 |
Thyroxine-binding globulin excess | SERPINA7 |
Antithrombin deficiency | SERPINC1 |
Heparin cofactor 2 deficiency | SERPIND1 |
Plasminogen activator inhibitor 1 deficiency | SERPINE1 |
Antiplasmin alpha 2 deficiency | SERPINF2 |
Angioneurotic oedema | SERPING1 |
Dementia, familial | SERPINI1 |
Amyotrophic lateral sclerosis 4, juvenile | SETX |
Ataxia-ocular apraxia 2 | SETX |
Ataxia with neuropathy | SETX |
Hirschsprung disease | SFRS2IP |
Surfactant protein B deficiency, partial | SFTPB |
Pulmonary alveolar proteinosis | SFTPB |
Surfactant protein B deficiency | SFTPB |
Respiratory failure, neonatal | SFTPC |
Interstitial lung disease | SFTPC |
Muscular dystrophy, Duchenne-like | SGCA |
Muscular dystrophy, limb girdle | SGCA |
Muscular dystrophy, Duchenne-like | SGCB |
Muscular dystrophy, progressive | SGCB |
Muscular dystrophy, limb girdle | SGCB |
Muscular dystrophy, limb girdle | SGCD |
Cardiomyopathy, dilated | SGCD |
Cardiomyopathy, dilated | sgcdp |
Myoclonus dystonia | SGCE |
Muscular dystrophy, Becker | SGCG |
Muscular dystrophy, limb girdle | SGCG |
Sanfilippo syndrome A | SGSH |
Non-Hodgkin lymphoma | SH2D1A |
Lymphoproliferative syndrome, X-linked | SH2D1A |
Haemophagocytic lymphohistiocytosis | SH2D1A |
Immunodeficiency syndrome, common variable | SH2D1A |
Cherubism | SH3BP2 |
Charcot-Marie-Tooth disease 4C | SH3TC2 |
22q13 deletion syndrome | SHANK3 |
Hyperandrogenism | SHBG |
Solitary median maxillary central incisor | SHH |
Preaxial polydactyly | SHH |
Interhemispheric fusion, single nostril nose | SHH |
Holoprosencephaly | SHH |
Colobomatous microphalmia | SHH |
Leri-Weill dyschondrosteosis | SHOX |
Langer mesomelic dysplasia | SHOX |
Madelung deformity | SHOX |
Short stature | SHOX |
Leri-Weill dyschondrosteosis | shoxb |
Mental retardation, X-linked | SHROOM4 |
Sucrase isomaltase deficiency | SI |
Marinesco-Sjogren syndrome | SIL1 |
Obesity, profound | SIM1 |
Branchio-otic syndrome | SIX1 |
Holoprosencephaly | SIX3 |
Cataract formation in myotonic dystrophy | SIX5 |
Anophthalmia/microphthalmia | SIX6 |
Bile acid malabsorption, primary | SLC10A2 |
Anaemia, hypochromic microcytic | SLC11A2 |
Bartter syndrome | SLC12A1 |
Bartter syndrome, antenatal | SLC12A1 |
Gitelman syndrome | SLC12A3 |
Peripheral neuropathy and corpus callosum agenesis | SLC12A6 |
Erythrocyte lactate transport deficiency | SLC16A1 |
Monocarboxylate transporter 8 deficiency | SLC16A2 |
Allan-Herndon-Dudley syndrome | SLC16A2 |
Putamen lesions & low T4 in cerebrospinal fluid | SLC16A2 |
Sialic acid storage disease, infantile | SLC17A5 |
Salla disease | SLC17A5 |
Megaloblastic anaemia, thiamine responsive | SLC19A2 |
Basal ganglia disease, biotin-responsive | SLC19A3 |
Episodic ataxia/hemiplegia/seizures | SLC1A3 |
Hypouricaemia, renal | SLC22A12 |
Carnitine deficiency, systemic primary | SLC22A5 |
Intrahepatic cholestasis, neonatal | SLC25A13 |
Citrullinaemia, adult onset, type II | SLC25A13 |
Citrullinaemia, neonatal onset, type II | SLC25A13 |
Hepatitis, idiopathic neonatal | SLC25A13 |
Citrullinaemia, infantile | SLC25A13 |
HHH syndrome | SLC25A15 |
Microcephaly | SLC25A19 |
Carnitine-acylcarnitine carrier deficiency | SLC25A20 |
Myoclinic epilepsy, neonatal | SLC25A22 |
Mito. myopathy & hypertrophic cardiomyopathy | SLC25A4 |
Progressive external ophthalmoplegia | SLC25A4 |
Achondrogenesis 1B | SLC26A2 |
Diastrophic dysplasia | SLC26A2 |
Diastrophic dysplasia/Multiple Epiphyseal dyspl. | SLC26A2 |
Atelosteogenesis 2 / diastrophic dysplasia | SLC26A2 |
Atelosteogenesis 2 | SLC26A2 |
Diarrhoea, congenital chloride | SLC26A3 |
Enlarged vestibular aqueduct | SLC26A4 |
Enlarged vestibular aqueduct & Mondini dysplasia | SLC26A4 |
Enlarged vestibular aqueduct & vestib. dilatation | SLC26A4 |
Deafness, non-syndromic, autosomal recessive | SLC26A4 |
Hearing loss | SLC26A4 |
Pendred syndrome | SLC26A4 |
Deafness, non-syndromic | SLC26A5 |
Glucose transporter 1 deficiency syndrome | SLC2A1 |
Arterial tortuosity syndrome | SLC2A10 |
Fanconi-Bickel syndrome | SLC2A2 |
Diabetes, NIDDM | SLC2A2 |
Diabetes, NIDDM | SLC2A4 |
Nephrolithiasis | SLC34A1 |
Osteoporosis with hypophosphataemia | SLC34A1 |
Pulmonary alveolar microlithiasis | SLC34A2 |
Hereditary hypophosphataemic rickets with hypercalciuria | SLC34A3 |
Congenital disorder of glycosylation 2c | SLC35C1 |
Glycogen storage disease 1c | SLC37A4 |
Glycogen storage disease 1d | SLC37A4 |
Glycogen storage disease 1 non-a | SLC37A4 |
Glycogen storage disease 1b | SLC37A4 |
Acrodermatitis enteropathica | SLC39A4 |
Cystinuria | SLC3A1 |
Hypotonia-Cystinuria syndrome | SLC3A1 |
Hyperferritinaemia | SLC40A1 |
Haemochromatosis, type 4 | SLC40A1 |
Iron overload | SLC40A1 |
Oculocutaneous albinism 4 | SLC45A2 |
Anaemia | SLC4A1 |
Acanthocytosis | SLC4A1 |
Distal renal tubular acidosis | SLC4A1 |
Spherocytosis | SLC4A1 |
Ovalocytosis | SLC4A1 |
Erythrocyte band 3 deficiency | SLC4A1 |
Corneal endothelial dystrophy 2 | SLC4A11 |
Proximal renal tubular acidosis | SLC4A4 |
Glucose / galactose malabsorption | SLC5A1 |
Renal glucosuria | SLC5A2 |
Iodide transport defect | SLC5A5 |
Hartnup disorder | SLC6A19 |
Orthostatic intolerance and tachycardia | SLC6A2 |
Bipolar affective disorder | SLC6A3 |
Hyperekplexia | SLC6A5 |
Mental retardation | SLC6A8 |
Creatine deficiency | SLC6A8 |
Lysinuric protein intolerance | SLC7A7 |
Cystinuria, non-type I | SLC7A9 |
Cystinuria | SLC7A9 |
Cystinuria, type I | SLC7A9 |
Cystinuria, type I/III | SLC7A9 |
Attention deficit hyperactivity disorder | SLC9A9 |
Pravastatin-induced myopathy | SLCO1B1 |
Tourette syndrome | SLITRK1 |
Mal de Meleda | SLURP1 |
Osteoarthritis | SMAD3 |
Juvenile polyposis syndrome | SMAD4 |
Juvenile polyposis coli | SMAD4 |
Juvenile polyposis and haemorrhagic telangiectasia | SMAD4 |
Schimke immuno-osseous dysplasia | SMARCAL1 |
Rhabdoid tumour | SMARCB1 |
Rhabdoid predisposition syndrome | SMARCB1 |
Posterior fossa brain tumours | SMARCB1 |
CNS Atypical Teratoid/Rhabdoid tumours | SMARCB1 |
Brain and Kidney tumours | SMARCB1 |
Kidney tumours | SMARCB1 |
Cornelia de Lange syndrome | SMC1A |
Spinal muscular atrophy | SMN1 |
Spinal muscular atrophy | SMN2 |
Niemann-Pick disease | SMPD1 |
Snyder-Robinson syndrome | SMS |
Waardenburg syndrome | SNAI2 |
Neural tube defect | SNAI2 |
CEDNIK syndrome | SNAP29 |
Parkinson disease | SNCA |
Parkinson disease | SNCAIP |
Dementia with Lewy bodies | SNCB |
Angelman syndrome | SNRPN |
Prader-Willi syndrome | SNRPN |
Motor neuron disease | SOD1 |
Amyotrophic lateral sclerosis | SOD1 |
Gingival fibromatosis | SOS1 |
van Buchem disease | SOST |
Sclerosteosis | SOST |
Yemenite deaf-blind hypopigmentation syndrome | SOX10 |
Peripheral neuropathy with hypomyelination | SOX10 |
PCWH | SOX10 |
Shah-Waardenburg syndrome and neuropathy | SOX10 |
Shah-Waardenburg syndrome | SOX10 |
Hypotrichosis-Lymphoedema-Telangiectasia | SOX18 |
Anophthalmia-oesophageal-genital syndrome | SOX2 |
Hypothalamo-pituitary-gonadal axis abnormalities | SOX2 |
Anophthalmia | SOX2 |
Anophthalmia, hearing loss and brain abnormalities | SOX2 |
Anophthalmia-esophageal-genital syndrome | SOX2 |
Hypoparathyroidism | SOX3 |
Mental retardation with growth hormone deficiency | SOX3 |
Hypopituitarism | SOX3 |
Acampomelic campomelic dysplasia with XY reversal | SOX9 |
Acampomelic campomelic dysplasia | SOX9 |
Campomelic dysplasia | SOX9 |
Hepatic venoocclusive disease with immunodef. | SP110 |
Spastic paraplegia | SPAST |
Spastic paraplegia, autosomal dominant | SPAST |
Upper motor neuron syndrome, adult onset | SPAST |
Spastic paraparesis | SPAST |
Troyer syndrome | SPG20 |
Mast syndrome | SPG21 |
Spastic paraplegia 3 | SPG3A |
Spastic paraplegia | SPG7 |
Pancreatitis, chronic | SPINK1 |
Netherton syndrome | SPINK5 |
Tetrahydrobiopterin deficiency | SPR |
Dystonia, dopa-responsive | SPR |
Elliptocytosis | SPTA1 |
Poikilocytic anaemia | SPTA1 |
Spherocytosis | SPTA1 |
Hydrops fetalis | SPTB |
Spherocytosis | SPTB |
Elliptocytosis | SPTB |
Spinocerebellar ataxia type 5 | SPTBN2 |
Neuropathy, hereditary sensory, type I | SPTLC1 |
Paget disease of bone | SQSTM1 |
Steroid-5 alpha-reductase deficiency | SRD5A2 |
Hypospadias | SRD5A2 |
Male pseudohermaphroditism | SRD5A2 |
Diabetes, type 2 | SREBF1 |
Retinitis pigmentosa | SRPX |
Rolandic epilepsy, oral dyspraxia, mental retardation | SRPX2 |
Rolandic epilepsy, bilateral perisylvian polymicrogyria | SRPX2 |
Gonadal dysgenesis | SRY |
XY sex reversal | SRY |
Hermaphroditism | SRY |
Porokeratosis, disseminated superficial actinic, 1 | SSH1 |
Somatostatin analog resistance | SSTR5 |
Amish infantile epilepsy syndrome | ST3GAL5 |
Congenital lipoid adrenal hyperplasia | STAR |
Impaired mycobacterial immunity | STAT1 |
Growth hormone insensitivity | STAT5B |
Juvenile polyposis coli | STK11 |
Peutz-Jeghers syndrome | STK11 |
Deafness, non-syndromic | STRC |
Ichthyosis | STS |
Haemophagocytic lymphohistiocytosis, familial | STX11 |
Mitochondrial DNA depletion syndrome | SUCLA2 |
Medulloblastoma, predisposition to | SUFU |
Multiple sulphatase deficiency | SUMF1 |
Sulphite oxidase deficiency | SUOX |
Leigh syndrome | SURF1 |
Encephalopathy | SURF1 |
Cytochrome c oxidase deficiency | SURF1 |
Azoospermia | SYCP3 |
Epilepsy | SYN1 |
Corneal dystrophy, gelatinous drop-like | TACSTD2 |
Transaldolase deficiency | TALDO1 |
Bare lymphocyte syndrome | TAP1 |
HLA class I deficiency | TAP1 |
HLA class I deficiency | TAP2 |
Tapasin deficiency | TAPBP |
Tyrosinaemia 2 | TAT |
Cardiomyopathy, X-linked infantile | TAZ |
Left ventricular noncompaction | TAZ |
Barth syndrome | TAZ |
Hypoparathyroidism-retardation-dysmorphic syndrome | TBCE |
Sensorineural deafness, late onset, X-linked | TBL1X |
Ataxia | TBP |
Creutzfeldt-Jakob disease, variant | TBP |
Velocardiofacial syndrome | TBX1 |
DiGeorge syndrome/Velocardiofacial syndrome | TBX1 |
DiGeorge syndrome | TBX1 |
Conotruncal anomaly face syndrome | TBX1 |
Cardiovascular defects | TBX1 |
ACTH deficiency, isolated | TBX19 |
Cleft palate and ankyloglossia | TBX22 |
Cleft palate | TBX22 |
Ulnar-mammary syndrome | TBX3 |
Small patella syndrome | TBX4 |
Holt-Oram syndrome | TBX5 |
Thromboxane A2 receptor deficiency | TBXA2R |
Cardiomyopathy, hypertrophic | TCAP |
Muscular dystrophy, limb girdle 2G | TCAP |
Cardiomyopathy, dilated | TCAP |
Various neurological abnormalities | TCBA1 |
Developmental delay and recurrent infection | TCBA1 |
Sensorineural hearing loss | TCF21 |
Cardiomyopathy, dilated | TCF21 |
Osteopetrosis, autosomal recessive | TCIRG1 |
Osteopetrosis, infantile malignant | TCIRG1 |
Transcobalamin II deficiency | TCN2 |
Treacher-Collins syndrome | TCOF1 |
Treacher-Collins syndrome | tcof16a |
Forebrain defects | TDGF1 |
Spinocerebellar ataxia with axonal neuropathy | TDP1 |
Deafness, autosomal dominant 8 | TECTA |
Deafness | TECTA |
Deafness, autosomal recessive 21 | TECTA |
Deafness, autosomal dominant 12 | TECTA |
Venous malformation | TEK |
Aplastic anaemia | TERC |
Dyskeratosis congenita, autosomal dominant | TERC |
Dyskeratosis congenita & myelodysplastic syndrome | TERC |
Aplastic anaemia | TERT |
Defective telomere maintainance in Cri du Chat syndrome | TERT |
Dyskeratosis congenita | TERT |
Hypotransferrinemia | TF |
Atransferrinaemia | TF |
Char syndrome | TFAP2B |
Haemochromatosis | TFR2 |
Altered iron status | TFR2 |
Goitre with hypothyroidism | TG |
Goitre, congenital | TG |
Goitre, adenomatous | TG |
Goitre, simple | TG |
Hypothyroidism | TG |
Camurati-Engelmann disease | TGFB1 |
Arrhythmogenic right ventricular dysplasia | TGFB3 |
Corneal dystrophy, Reis-Bucklers | TGFBI |
Corneal dystrophy, granular | TGFBI |
Corneal dystrophy, lattice type 3A | TGFBI |
Corneal dystrophy, lattice type 1 | TGFBI |
Corneal dystrophy, Groenouw type 1 | TGFBI |
Corneal dystrophy, Avellino | TGFBI |
Corneal dystrophy, epithelial basement membrane | TGFBI |
Corneal dystrophy, lattice type | TGFBI |
Furlong syndrome | TGFBR1 |
Loeys-Dietz aortic aneurysm syndrome | TGFBR1 |
Marfan syndrome II | TGFBR1 |
Aortic aneurysm, thoracic | TGFBR1 |
Loeys-Dietz aortic aneurysm syndrome | TGFBR2 |
Aortic aneurysm, thoracic | TGFBR2 |
Marfan syndrome II | TGFBR2 |
Colorectal cancer, non-polyposis | TGFBR2 |
Shprintzen-Goldberg syndrome | TGFBR2 |
Holoprosencephaly and moyamoya disease | TGIF1 |
Holoprosencephaly | TGIF1 |
Ichthyosis, lamellar | TGM1 |
Peeling skin syndrome | TGM5 |
Tyrosine hydroxylase deficiency | TH |
Parkinsonism, L-DOPA-responsive | TH |
Extrapyramidal movement disorder | TH |
Dystonia, L-DOPA-responsive | TH |
Segawa syndrome | TH |
Myocardial infarction | THBD |
Late foetal loss | THBD |
Thrombocythaemia, essential | THPO |
Congenital heart defect | THRAP2 |
Thyroid hormone resistance | THRB |
Mohr-Tranebjaerg syndrome | TIMM8A |
Jensen syndrome | TIMM8A |
Fundus dystrophy, Sorsby | TIMP3 |
Hypothyroidism & benign chorea | TITF1 |
Benign hereditary chorea | TITF1 |
Dyskinesia, resp. distress, hypothyrotropinaemia | TITF1 |
Thyroid dysfunction and respiratory failure | TITF1 |
Hypothyroidism | TITF1 |
Brain-thyroid-lung syndrome | TITF1 |
Hypercholanaemia | TJP2 |
Mitochondrial DNA depletion syndrome | TK2 |
Deafness | TMC1 |
Epidermodysplasia verruciformis | TMC6 |
Epidermodysplasia verruciformis | TMC8 |
Severe combined immune deficiency syndrome | TMEM142A |
Gnathodiaphyseal dysplasia | TMEM16E |
Meckel syndrome | TMEM67 |
Deafness | TMIE |
Cardiomyopathy, dilated | TMPO |
Neurosensory deafness | TMPRSS3 |
Deafness, childhood onset | TMPRSS3 |
Squamous cell carcinoma, head and neck | TNFRSF10B |
Familial Paget disease of bone | TNFRSF11A |
Familial expansile osteolysis | TNFRSF11A |
Expansile skeletal hyperphosphatasia | TNFRSF11A |
Paget disease, juvenile | TNFRSF11B |
Immunodeficiency, common variable | TNFRSF13B |
Periodic fever with amyloidosis | TNFRSF1A |
Periodic fever, autosomal dominant | TNFRSF1A |
Periodic fever with AA amyloidosis | TNFRSF1A |
Juvenile idiopathic arthritis | TNFRSF1A |
Systemic lupus erythematosus | TNFRSF1A |
Cardiomyopathy, dilated | TNNC1 |
Cardiomyopathy, hypertrophic | TNNC1 |
Distal arthrogryposis syndrome 2b | TNNI2 |
Increased left ventricular wall thickness | TNNI3 |
Cardiomyopathy, restrictive | TNNI3 |
Cardiomyopathy, hypertrophic | TNNI3 |
Nemaline myopathy, Amish type | TNNT1 |
Cardiomyopathy, dilated | TNNT2 |
Increased left ventricular wall thickness | TNNT2 |
Cardiomyopathy, hypertrophic | TNNT2 |
Distal arthrogryposis syndrome 2b | TNNT3 |
Ehlers-Danlos syndrome, autosomal recessive | TNXB |
Tenascin-X deficiency | TNXB |
Torsion-A deficiency | TOR1A |
Torsion dystonia, early onset | TOR1A |
Cytosarcoma phyllodes | TP53 |
Ependymoma | TP53 |
Neuroectodermal tumour | TP53 |
Astrocytoma | TP53 |
Leukaemia/lymphoma | TP53 |
Rhabdomyosarcoma | TP53 |
Neuroblastoma | TP53 |
Thyroid tumour | TP53 |
Choroid plexus tumours | TP53 |
Colorectal cancer | TP53 |
Adrenocortical carcinoma | TP53 |
Multiple cancers | TP53 |
Lung cancer | TP53 |
Glioma | TP53 |
Adenocarcinoma | TP53 |
Li-Fraumeni syndrome | TP53 |
Bone cancer | TP53 |
Medulloblastoma | TP53 |
Breast cancer | TP53 |
Sarcoma | TP53 |
Carcinoma | TP53 |
Meningioma | TP53 |
Familial brain tumour syndrome | TP53 |
Glioblastoma | TP53 |
Gastric cancer | TP53 |
Familial adenomatous polyposis | TP53 |
Choroid plexus carcinoma, childhood | TP53 |
Li-Fraumeni-like syndrome | TP53 |
Osteosarcoma | TP53 |
Limb-mammary syndrome | TP63 |
Rapp-Hodgkin syndrome | TP63 |
Split-hand/split-foot malformation | TP63 |
Cleft lip, non-syndromic | TP63 |
EEC syndrome | TP63 |
ADULT syndrome | TP63 |
AEC syndrome | TP63 |
ADULT syndrome | tp73lae3 |
Triosephosphate isomerase deficiency | TPI1 |
Cardiomyopathy, hypertrophic | TPM1 |
Cardiomyopathy, dilated | TPM1 |
Distal arthrogryposis syndrome 1 | TPM2 |
Nemaline myopathy | TPM2 |
Nemaline myopathy | TPM3 |
Hypothyroidism | TPO |
Goitre | TPO |
Goitrous hypothyroidism | TPO |
Partial iodide organification defect | TPO |
Thyroid peroxidase deficiency | TPO |
Total iodide organification defect | TPO |
Neuronal ceroid lipofuscinosis, late infantile | TPP1 |
Neuronal ceroid lipofuscinosis, juvenile | TPP1 |
Spondyloepiphyseal dysplasia tarda | TRAPPC2 |
Presenile dementia with bone cysts | TREM2 |
Aicardi-Goutieres syndrome | TREX1 |
Isolated central hypothyroidism | TRHR |
Muscular dystrophy, limb girdle 2H | TRIM32 |
Bardet-Biedl syndrome | TRIM32 |
Mulibrey nanism | TRIM37 |
Deafness, non-syndromic | TRIOBP |
Phenotype modifier | TRMU |
Focal segmental glomerulosclerosis | TRPC6 |
Hypomagnesaemia with secondary hypocalcaemia | TRPM6 |
Tricho-rhino-phalangeal syndrome I | TRPS1 |
Tricho-rhino-phalangeal syndrome | TRPS1 |
Tricho-rhino-phalangeal syndrome III | TRPS1 |
Tuberous sclerosis | TSC1 |
Lymphangioleiomyomatosis | TSC1 |
Tuberous sclerosis with inf. polycystic kidneys | TSC2 |
Tuberous sclerosis | TSC2 |
Multiple congenital abnormalities | TSC2 |
Lymphangiokiomyomatosis | TSC2 |
Tuberous sclerosis and lymphangiomyomatosis | TSC2 |
Thyroid-stimulating hormone deficiency | TSHB |
Hypothyroidism | TSHB |
Hyperfunctioning thyroid nodules | TSHR |
Hyperthyroidism | TSHR |
Thyrotoxicosis | TSHR |
Hypothyroidism | TSHR |
Thyroid hyperplasia | TSHR |
Hyperthyroidism, nonautoimmune | TSHR |
Thyroid-stimulating hormone resistance | TSHR |
Hyperthyroidism, gestational | TSHR |
Mental retardation, X-linked | TSPAN7 |
Sudden infant death with dysgenesis of the testes | TSPYL1 |
Bardet-Biedl syndrome | TTC8 |
Cardiomyopathy, dilated | TTN |
Cardiomyopathy, hypertrophic | TTN |
Tibial muscular dystrophy | TTN |
Ataxia, isolated vitamin E deficiency | TTPA |
Alpha-tocopherol transfer protein deficiency | TTPA |
Spinocerebral dysfunction | TTPA |
Amyloidosis, oculoleptomeningeal | TTR |
Euthyroid hyperthyroxinaemia | TTR |
Amyloidosis | TTR |
Amyloidosis, meningocerebrovascular | TTR |
Amyloidosis, cardiac | TTR |
Cardiomyopathy | TTR |
Amyloidotic vitreous opacities | TTR |
Amyloidotic polyneuropathy | TTR |
Retinitis pigmentosa | TULP1 |
Leber congenital amaurosis | TULP1 |
Robinow-Sorauf syndrome | TWIST1 |
Baller-Gerold syndrome | TWIST1 |
Synostotic frontal plagiocephaly | TWIST1 |
Saethre-Chotzen syndrome | TWIST1 |
Mitochondrial neurogastrointestinal encephalopathy | TYMP |
Peripheral neuropathy with intestinal pseudo-occlusion | TYMP |
Albinism, oculocutaneous 1 | TYR |
Albinism, oculocutaneous 1B | TYR |
Albinism, oculocutaneous 1A | TYR |
Nasu-Hakola disease | TYROBP |
Albinism, oculocutaneous 3 | TYRP1 |
Mental retardation, X-linked | UBE2A |
Angelman syndrome | UBE3A |
Johanson-Blizzard syndrome | UBR1 |
Parkinson disease | UCHL1 |
Obesity, severe, with diabetes | UCP3 |
Catch 22 syndrome | UFD1L |
Cardiac and craniofacial defect | UFD1L |
Crigler-Najjar syndrome 1 | UGT1A1 |
Crigler-Najjar syndrome 2 | UGT1A1 |
Gilbert syndrome | UGT1A1 |
Crigler-Najjar syndrome 2 | UGT1A4 |
FJHN/MCKD syndrome | UMOD |
Glomerulocystic kidney disease | UMOD |
Hyperuricaemic nephropathy, juvenile | UMOD |
Medullary cystic kidney disease 2 | UMOD |
Oroticaciduria 1 | UMPS |
Haemophagocytic lymphohistiocytosis, familial | UNC13D |
Immunodeficiency with hyper-IgM | UNG |
Ureidopropionase deficiency | UPB1 |
Renal adysplasia | UPK3A |
Renal hypodysplasia | UPK3A |
Complex III deficiency | UQCRB |
Porphyria | UROD |
Porphyria, hepatoerythropoietic | UROD |
Porphyria, cutanea tarda | UROD |
Porphyria, erythropoietic | UROS |
Nonsyndromic deafness | USH1C |
Usher syndrome 1c | USH1C |
Deafness, non-syndromic | ush1cpst |
Usher syndrome 1g | USH1G |
Retinitis pigmentosa, recessive, no hearing loss | USH2A |
Usher syndrome 2a | USH2A |
Azoospermia / oligozoospermia | USP26 |
Infertility, idiopathic | USP9Y |
Azoospermia | USP9Y |
Amyotrophic lateral sclerosis | VAPB |
Wagner syndrome | VCAN |
Cardiomyopathy, hypertrophic | VCL |
IBMPFD | VCP |
Atrichia | VDR |
Rickets, vitamin D resistant | VDR |
Von Hippel-Lindau syndrome & pheochromocytomas | VHL |
Polycythaemia, with high epo concentration | VHL |
Pancreatic cancer | VHL |
Von Hippel-Lindau syndrome | VHL |
Phaeochromocytoma | VHL |
Haemangioblastoma | VHL |
Phaeochromocytoma and paraganglioma | VHL |
Warfarin resistance | VKORC1 |
Vit. K-depend. clot. factors, deficiency, type 2 | VKORC1 |
Dysequilibrium syndrome | VLDLR |
Chorea-acanthocytosis | VPS13A |
Cohen syndrome | VPS13B |
Arthrogryposis, renal dysfunction and cholestasis | VPS33B |
Keratoconus | VSX1 |
Craniofacial and anterior segment developmental abnormalities | VSX1 |
Inner retina abnormality | VSX1 |
Posterior polymorphous dystrophy | VSX1 |
Von Willebrand disease 2c | VWF |
Von Willebrand disease | VWF |
Von Willebrand disease 2 | VWF |
Von Willebrand disease 2m | VWF |
Von Willebrand disease 3 | VWF |
Von Willebrand disease 1 | VWF |
Von Willebrand disease 2b | VWF |
Von Willebrand, Normandy variant | VWF |
Von Willebrand disease 2n | VWF |
Von Willebrand disease 2n/1 | VWF |
Von Willebrand disease 2a | VWF |
Neutropaenia, severe congenital, X-linked | WAS |
Wiskott-Aldrich syndrome | WAS |
Thrombocytopaenia | WAS |
Glaucoma, primary open angle | WDR36 |
Wolfram syndrome | WFS1 |
Diabetes, type 1, and sensorineural hearing loss | WFS1 |
Optic atrophy, autosomal dominant, with hearing impairment | WFS1 |
Sensorineural hearing loss | WFS1 |
Spondyloepiphyseal dysplasia tarda and arthropathy | WISP3 |
Pseudorheumatoid dysplasia, progressive | WISP3 |
Pseudohypoaldosteronism 2 | WNK1 |
Pseudohypoaldosteronism 2 | WNK4 |
Tetra-amelia | WNT3 |
Rokitansky-Kuster-Hauser syndrome | WNT4 |
Fuhrmann syndrome | WNT7A |
Ulnar and fibula absence, with severe limb deficiency | WNT7A |
Werner syndrome | WRN |
Frasier syndrome | WT1 |
Nephrotic syndrome | WT1 |
Focal segmental glomerulosclerosis | WT1 |
Diffuse mesangial sclerosis | WT1 |
Denys-Drash syndrome | WT1 |
Hypospadias | WT1 |
Wilms tumour, adult | WT1 |
Wilms tumour | WT1 |
Xanthinuria, type 1 | XDH |
X-chromosome inactivation, familial, skewed | XIST |
McLeod syndrome | XK |
Xeroderma pigmentosum (A) | XPA |
Xeroderma pigmentosum (C) | XPC |
XRCC3 deficiency | XRCC3 |
Mitomycin-C resistance | XRCC3 |
Charcot-Marie-Tooth disease | YARS |
Immunodeficiency, T-cell defect | ZAP70 |
CD8 deficiency | ZAP70 |
Immunodeficiency, severe combined | ZAP70 |
Posterior polymorphous corneal dystrophy | ZEB1 |
Hirschsprung disease-structural eye anomalies | ZEB2 |
Hirschsprung disease-mental retardation syndrome | ZEB2 |
Mowat-Wilson syndrome | ZEB2 |
Tetralogy of Fallot | ZFPM2 |
Dandy-Walker malformation | ZIC1 |
Holoprosencephaly | ZIC2 |
Situs abnormality | ZIC3 |
Cardiac malformation | ZIC3 |
Mandibuloacral dysplasia | ZMPSTE24 |
Restrictive dermopathy | ZMPSTE24 |
Hutchinson-Gilford progeria syndrome | ZMPSTE24 |
Mental retardation | ZNF41 |
Mental retardation, X-linked | ZNF674 |
Seborrhea-like dermat. with psoriasiform elements | ZNF750 |
Mental retardation, X-linked | ZNF81 |