Biomedical Sciences
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Human Genetics
| Human Genetics – Abbreviations for Diseases
Human Genetics – Abbreviations for Diseases
| 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 |