| ABCA1 | Hypoalphalipoproteinemia | | 600046 / 604091 | - |
| ABCA1 | Tangier disease | | 600046 / 205400 | - |
| ABCA4 | Retinitis pigmentosa 19 | | 601691 / 601718 | - |
| ABCA4 | Stargardt disease 1 | | 601691 / 248200 | - |
| ABCA4 | Cone-rod dystrophy 3 | | 601691 / 604116 | - |
| ABCA12 | Ichthyosis, autosomal recessive 4B (harlequin) | | 607800 / 242500 | + |
| ABCA12 | Ichthyosis, congenital, autosomal recessive 4A | | 607800 / 601277 | + |
| ABCB4 | Gallbladder disease 1 | Cholelithiasis, low phospholipid-associated / Gallbladder disease 1 | 171060 / 600803 | - |
| ABCB4 | Cholestasis, progressive familial intrahepatic 3 | | 171060 / 602347 | - |
| ABCB4 | Cholestasis, intrahepatic, of pregnancy, 3 | | 171060 / 614972 | - |
| ABCB11 | Cholestasis, benign recurrent intrahepatic, 2 | | 603201 / 605479 | - |
| ABCB11 | Cholestasis, progressive familial intrahepatic 2 | | 603201 / 601847 | - |
| ABCC2 | Dubin-Johnson syndrome | | 601107 / 237500 | + |
| ABCC8 | Hyperinsulinemic hypoglycemia, familial, 1 | | 600509 / 256450 | - |
| ABCC8 | Diabetes mellitus, permanent neonatal | | 600509 / 606176 | - |
| ABCC8 | Diabetes mellitus, transient neonatal 2 | | 600509 / 610374 | - |
| ABCD1 | Adrenoleukodystrophy | Adrenomyeloneuropathy / Adrenoleukodystrophy | 300371 / 300100 | + |
| ACADVL | Very long-chain acyl-CoA dehydrogenase deficiency | VLCAD deficiency / Very long-chain acyl-CoA dehydrogenase deficiency | 609575 / 201475 | + |
| ACP2 | Lysosomal acid phosphatase deficiency | | 171650 / 200950 | - |
| ACTA2 | Aortic aneurysm, familial thoracic 6 | | 102620 / 611788 | - |
| ACTA2 | Moyamoya disease 5 | | 102620 / 614042 | - |
| ACTA2 | Multisystemic smooth muscle dysfunction syndrome | | 102620 / 613834 | - |
| ACTG2 | Megacystis microcolon intestinal hypoperistalsis syndrome | MMIHS / Megacystis microcolon intestinal hypoperistalsis syndrome | 102545 / 155310 | - |
| ACTG2 | Myopathy, visceral | | 102545 / 155310 | - |
| ACVRL1 | Telangiectasia, hereditary hemorrhagic, type 2 | | 601284 / 600376 | + |
| ADAMTS13 | Thrombotic thrombocytopenic purpura, familial | | 604134 / 274150 | - |
| ADAMTS17 | Weill-Marchesani-like syndrome | | 607511 / 613195 | - |
| ADNP | Helsmoortel-van der Aa syndrome | ADNP-related intellectual disability and autism spectrum disorder / Helsmoortel-van der Aa syndrome | 611386 / 615873 | - |
| AGPAT2 | Lipodystrophy, congenital generalized, type 1 | | 603100 / 608594 | - |
| AGXT | Hyperoxaluria, primary, type 1 | | 604285 / 259900 | - |
| AGXT | Hyperoxaluria, primary, type 1 | | 604285 / 259900 | - |
| AKT1 | Cowden syndrome 6 | | 164730 / 615109 | - |
| ALAS2 | Protoporphyria, erythropoietic, X-linked | | 612386 / 300752 | - |
| ALAS2 | Anemia, sideroblastic, X-linked | | 612386 / 300751 | - |
| ALB | Analbuminemia | | 103600 / 616000 | - |
| ALB | Dysalbuminemic hyperthyroxinemia | | 103600 / 615999 | - |
| ALDH7A1 | Epilepsy, pyridoxine-dependent | | 107323 / 266100 | - |
| ALDOB | Fructose intolerance | | 612724 / 229600 | + |
| ALPL | Hypophosphatasia | | 171760 / 241500, 241510, 146300 | + |
| ALS2 | Amyotrophic lateral sclerosis 2, juvenile | | 606352 / 205100 | - |
| ALS2 | Spastic paralysis, infantile onset ascending | | 606352 / 607225 | - |
| ALS2 | Lateral sclerosis, juvenile, primary | | 606352 / 606353 | - |
| ALX1 | Frontonasal dysplasia 3 | | 601527 / 613456 | - |
| ALX3 | Frontorhiny | Frontonasal dysplasia 1 / Frontorhiny | 606014 / 136760 | - |
| ALX4 | Parietal foramina 2 | | 605420 / 609597 | - |
| ALX4 | Frontonasal dysplasia 2 | | 605420 / 613451 | - |
| AMPD1 | Myopathy due to myoadenylate deaminase deficiency | | 102770 / 615511 | + |
| AMT | Glycine encephalopathy | | 238310 / 605899 | + |
| ANK1 | Spherocytosis, type 1 | | 612641 / 182900 | + |
| ANLN | Focal segmental glomerulosclerosis 8 | | 616027 / 616032 | - |
| ANO6 | Scott syndrome | | 608663 / 262890 | - |
| ANOS1 (KAL1) | Kallmann syndrome 1 | Hypogonadotropic hypogonadism 1 with or without anosmia / Kallmann syndrome 1 | 300836 / 308700 | + |
| AP2S1 | Hypocalciuric hypercalcemia, familial, type III | | 602242 / 600740 | - |
| APC | Adenomatous polyposis coli | Gardner syndrome / Adenomatous polyposis coli / Turcot syndrome | 611731 / 175100 | + |
| APC | Desmoid disease, hereditary | | 611731 / 135290 | + |
| APOA1 | Amyloidosis, 3 or more types | | 107680 / 105200 | - |
| APOA1 | Hypoalphalipoproteinemia | | 107680 / 604091 | - |
| APOA2 | Apolipoprotein A-II deficiency | | 107670 / - | - |
| APOA5 | Hyperlipoproteinemia, type IV | Hypertriglyceridemia / Hyperlipoproteinemia, type IV | 606368 / 144600, 145750 | + |
| APOA5 | Hyperchylomicronemia, late-onset | | 606368 / 144650 | + |
| APOB | Hypercholesterolemia, type B | | 107730 / 144010 | + |
| APOC2 | Hyperlipoproteinemia, type Ib | Apolipoprotein C-II deficiency / Hyperlipoproteinemia, type Ib | 608083 / 207750 | + |
| APOE | Apolipoprotein E Genotype | Hyperlipoproteinemia, type III / Apolipoprotein E Genotype / | 107741 / 617347, 104310 | + |
| APTX | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | | 606350 / 208920 | - |
| AR | Androgen insensitivity | | 313700 / 300068 | + |
| AR | Androgen insensitivity, partial | | 313700 / 312300 | + |
| AR | Kennedy disease | Spinal and bulbar muscular atrophy of Kennedy / Kennedy disease | 313700 / 313200 | + |
| ARHGEF9 | Epileptic encephalopathy, early infantile, 8 | | 300429 / 300607 | - |
| ARSA | Metachromatic leukodystrophy | Arylsulfatase A deficiency / Metachromatic leukodystrophy | 607574 / 250100 | + |
| ARSA | Metachromatic leukodystrophy | Arylsulfatase A deficiency / Metachromatic leukodystrophy | 607574 / 250100 | + |
| ARSB | Mucopolysaccharidosis type VI | Maroteaux-Lamy syndrome / Mucopolysaccharidosis type VI | 611542 / 253200 | + |
| ARSE | Chondrodysplasia punctata, X-linked recessive | | 300180 / 302950 | + |
| ARX | Epileptic encephalopathy, early infantile, 1 | | 300382 / 308350 | - |
| ARX | Lissencephaly, X-linked 2 | | 300382 / 300215 | - |
| ASAH1 | Farber lipogranulomatosis | | 613468 / 228000 | - |
| ASPA | Canavan disease | | 608034 / 271900 | + |
| ASPM | Microcephaly 5, primary, autosomal recessive | | 605481 / 608716 | - |
| ASXL1 | Bohring-Opitz syndrome | C-like syndrome / Bohring-Opitz syndrome | 612990 / 605039 | - |
| ATL1 | Neuropathy, hereditary sensory, type ID | | 606439 / 613708 | + |
| ATL1 | Spastic paraplegia 3A, autosomal dominant | | 606439 / 182600 | + |
| ATM | Ataxia-telangiectasia | Louis-Bar syndrome / Ataxia-telangiectasia | 607585 / 208900 | + |
| ATOH7 | Persistent hyperplastic primary vitreous, autosomal recessive | | 609875 / 221900 | - |
| ATP1A2 | Migraine, familial hemiplegic, 2 | | 182340 / 602481 | - |
| ATP1A2 | Hemiplegia of childhood, alternating | | 182340 / 104290 | - |
| ATP1A3 | Dystonia-parkinsonism, rapid-onset | RDP / Dystonia-parkinsonism, rapid-onset / Dystonia-12 | 182350 / 128235 | - |
| ATP1A3 | Alternating hemiplegia of childhood 2 | AHC / Alternating hemiplegia of childhood 2 | 182350 / 614820 | - |
| ATP1A3 | CAPOS syndrome | Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss / CAPOS syndrome | 182350 / 601338 | - |
| ATP2C1 | Hailey-Hailey disease | | 604384 / 169600 | - |
| ATP7A | Menkes disease | | 300011 / 309400 | - |
| ATP7A | Occipital horn syndrome | | 300011 / 304150 | - |
| ATP7A | Spinal muscular atrophy, distal, X-linked 3 | | 300011 / 300489 | - |
| ATP7B | Wilson disease | | 606882 / 277900 | + |
| ATP8B1 | Cholestasis, benign recurrent intrahepatic | | 602397 / 243300 | - |
| ATP8B1 | Cholestasis, progressive familial intrahepatic 1 | | 602397 / 211600 | - |
| ATP8B1 | Cholestasis, intrahepatic, of pregnancy, 1 | | 602397 / 147480 | - |
| ATP13A2 | Ceroid lipofuscinosis, neuronal, 12 | | 610513 / 606693 | - |
| ATP13A2 | Kufor-Rakeb syndrome | Parkinson disease-9 / Kufor-Rakeb syndrome | 610513 / 606693 | - |
| AVP | Diabetes insipidus, neurohypophyseal | | 192340 / 125700 | + |
| B3GAT3 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | | 606374 / 245600 | + |
| BCKDHA | Maple syrup urine disease, type Ia | | 608348 / 248600 | + |
| BCKDHB | Maple syrup urine disease, type Ib | | 248611 / 248600 | - |
| BMPR1A | Polyposis, juvenile intestinal | | 601299 / 174900 | - |
| BRAF | Noonan syndrome 7 | | 164757 / 613706 | + |
| BRAF | Cardiofaciocutaneous syndrome-1 | | 164757 / 115150 | - |
| BRAF | LEOPARD syndrome 1 | | 164757 / 613707 | - |
| BRCA1 | Breast-ovarian cancer, familial, 1 | | 113705 / 604370 | + |
| BRCA1 | Pancreatic cancer, susceptibility to, 4 | | 113705 / 614320 | + |
| BRCA2 | Breast-ovarian cancer, familial, 2 | | 600185 / 612555 | + |
| BRCA2 | Prostate cancer | | 600185 / 176807 | + |
| BRCA2 | Pancreatic cancer, susceptibility to, 4 | | 600185 / 613347 | + |
| BRCA2 | Fanconi anemia, complementation group D1 | | 600185 / 605724 | - |
| BSCL2 | Neuropathy, distal hereditary motor, type VA | dHMN5A / Neuropathy, distal hereditary motor, type VA | 606158 / 600794 | + |
| BSCL2 | Spastic paraplegia-17 | SPG17 / Spastic paraplegia-17 / Silver syndrome | 606158 / 270685 | + |
| BSCL2 | Berardinelli-Seip syndrome | Lipodystrophy, congenital generalized, type 2 / Berardinelli-Seip syndrome | 606158 / 269700 | + |
| BSCL2 | Encephalopathy, progressive, with or without lipodystrophy | | 606158 / 615924 | + |
| BTD | Biotinidase deficiency | | 609019 / 253260 | - |
| BTK | Agammaglobulinemia, X-linked 1 | | 300300 / 300755 | - |
| C15orf41 | Dyserythropoietic anemia, congenital, type Ib | | 615626 / 615631 | - |
| CA8 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome | Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 / Cerebellar ataxia, mental retardation, and dysequilibrium syndrome | 114815 / 613227 | - |
| CACNA1A | Ataxia, episodic, type 2 | | 601011 / 108500 | - |
| CACNA1A | Ataxia, spinocerebellar, type 6 | | 601011 / 183086 | - |
| CACNA1S | Malignant hyperthermia 5 | | 114208 / 601887 | - |
| CACNA1S | Hypokalemic periodic paralysis, type 1 | | 114208 / 170400 | - |
| CACNB4 | Ataxia, episodic, type 5 | | 601949 / 613855 | - |
| CAPN3 | Muscular dystrophy, limb-girdle, type 2A | | 114240 / 253600 | - |
| CASK | FG syndrome 4 | Mental retardation, with or without nystagmus / FG syndrome 4 / X-linked intellectual disability with or without nystagmus | 300172 / 300422 | - |
| CASK | Mental retardation and microcephaly with pontine and cerebellar hypoplasia | Microcephaly with pontine and cerebellar hypoplasia / Mental retardation and microcephaly with pontine and cerebellar hypoplasia | 300172 / 300749 | - |
| CASQ2 | Tachycardia, ventricular catecholaminergic polymorphic, 2 | | 114251 / 611938 | + |
| CASR | Hypercalcemia, hypocalciuric, type I | | 601199 / 145980 | + |
| CASR | Hyperparathyroidism, neonatal | | 601199 / 239200 | + |
| CASR | Hypocalcemia, autosomal dominant | | 601199 / 601198 | + |
| CASR | Hypocalcemia, autosomal dominant, with Bartter syndrome | | 601199 / 601198 | + |
| CAV3 | Muscular dystrophy, limb-girdle, type IC | | 601253 / 607801 | - |
| CAV3 | Rippling muscle disease 2 | | 601253 / 606072 | - |
| CAV3 | Cardiomyopathy, familial hypertrophic, 1 | | 601253 / 192600 | - |
| CAV3 | Long QT syndrome 9 | | 601253 / 611818 | - |
| CBL | Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | CBL syndrome / Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia | 165360 / 613563 | + |
| CBS | Homocystinuria | | 613381 / 236200 | - |
| CCDC88C | Spinocerebellar ataxia 40 | SCA40 / Spinocerebellar ataxia 40 | 611204 / 616053 | - |
| CCDC88C | Hydrocephalus, nonsyndromic, autosomal recessive | | 611204 / 236600 | - |
| CCM2 | Cerebral cavernous malformations-2 | | 607929 / 603284 | - |
| CDC6 | Meier-Gorlin syndrome 5 | | 602627 / 613805 | - |
| CDC73 (HRPT2) | Hyperparathyroidism, familial primary | | 607393 / 145000 | - |
| CDC73 (HRPT2) | Hyperparathyroidism-jaw tumor syndrome | | 607393 / 145001 | - |
| CDC73 (HRPT2) | Parathyroid carcinoma | | 607393 / 608266 | - |
| CDH1 | Gastric cancer, familial diffuse | | 192090 / 137215 | + |
| CDKL5 | Epileptic encephalopathy, early infantile, 2 | | 300203 / 300672 | + |
| CDKL5 | Epileptic encephalopathy, early infantile, 2 | | 300203 / 300672 | + |
| CDT1 | Meier-Gorlin syndrome 4 | | 605525 / 613804 | - |
| CEBPA | Leukemia, acute myeloid | | 116897 / 601626 | - |
| CEP290 | Leber congenital amaurosis 10 | | 610142 / 611755 | - |
| CEP290 | Joubert syndrome 5 | | 610142 / 610188 | - |
| CEP290 | Meckel syndrome 4 | | 610142 / 611134 | - |
| CFH | Hemolytic uremic syndrome, atypical, type 1 | | 134370 / 235400 | - |
| CFTR | Cystic fibrosis | | 602421 / 219700 | + |
| CFTR | Vas deferens aplasia, congenital bilateral | | 602421 / 277180 | + |
| CFTR | Pancreatitis, idiopathic | | 602421 / 167800 | + |
| CHD7 | CHARGE syndrome | | 608892 / 214800 | + |
| CHEK2 | Breast cancer | | 604373 / 114480 | + |
| CHEK2 | Li-Fraumeni syndrome | | 604373 / 609265 | + |
| CHEK2 | Osteosarcoma, somatic | | 604373 / 259500 | + |
| CHEK2 | Prostate cancer, familial | | 604373 / 176807 | + |
| CHM | Choroideremia | | 300390 / 303100 | - |
| CHRNA2 | Epilepsy, nocturnal frontal lobe, type 4 | | 118502 / 610353 | - |
| CHRNA4 | Epilepsy, nocturnal frontal lobe, type 4 | | 118504 / 610353 | - |
| CHRNB2 | Epilepsy, nocturnal frontal lobe, type 3 | | 118507 / 605375 | - |
| CHRNE | Myasthenic syndrome, congenital, 4A, 4B, 4C | | 100725 / 605809, 616324, 608931 | - |
| CHRNG | Escobar variant of multiple pterygium syndrome | Escobar syndrome / Escobar variant of multiple pterygium syndrome | 100730 / 265000 | - |
| CHRNG | Multiple pterygium syndrome, lethal type | | 100730 / 253290 | - |
| CHST14 | Ehlers-Danlos syndrome, musculocontractural type 1 | | 608429 / 601776 | + |
| CISD2 | Wolfram syndrome 2 | | 611507 / 604928 | - |
| CLCN1 | Myotonia congenita, dominant | | 118425 / 160800 | - |
| CLCN1 | Myotonia congenita, recessive | | 118425 / 255700 | - |
| CLCNKB | Bartter syndrome, type 3 | | 602023 / 607364 | - |
| CLCNKB | Bartter syndrome, type 4b, digenic | | 602023 / 613090 | - |
| CLN3 | Ceroid lipofuscinosis, neuronal, 3 | Batten disease / Ceroid lipofuscinosis, neuronal, 3 | 607042 / 204200 | - |
| CNGA1 | Retinitis pigmentosa 49 | | 123825 / 613756 | - |
| CNGB3 | Achromatopsia-3 | | 605080 / 262300 | - |
| CNGB3 | Stargardt disease 1 | Macular degeneration, juvenile / Stargardt disease 1 | 605080 / 248200 | - |
| COL1A1 | Osteogenesis imperfecta | | 120150 / 166200, 166210, 259420, 166220 | + |
| COL1A1 | Ehlers-Danlos syndrome | | 120150 / 130000, 130060 | + |
| COL1A1 | Caffey disease | | 120150 / 114000 | + |
| COL1A2 | Osteogenesis imperfecta | | 120160 / 166200, 166210, 259420, 166220 | + |
| COL1A2 | Ehlers-Danlos syndrome | | 120160 / 130060, 225320 | + |
| COL2A1 | Stickler syndrome, type I | | 120140 / 108300 | + |
| COL3A1 | Ehlers-Danlos syndrome, type IV | | 120180 / 130050 | + |
| COL4A1 | Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps | HANAC / Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps | 120130 / 611773 | - |
| COL4A1 | Brain small vessel disease with or without ocular anomalies | | 120130 / 607595 | - |
| COL4A1 | Porencephaly 1 | | 120130 / 175780 | - |
| COL4A3 | Alport syndrome | | 120070 / 104200, 203780 | - |
| COL4A4 | Alport syndrome | | 120131 / 104200, 203780 | - |
| COL4A5 | Alport syndrome | | 303630 / 301050 | + |
| COL5A1 | Ehlers-Danlos syndrome, classic type | | 120215 / 130000 | + |
| COL5A2 | Ehlers-Danlos syndrome, classic type | | 120190 / 130000 | + |
| COL5A3 | Ehlers-Danlos syndrome | | 120216 / - | + |
| COL6A1 | Bethlem myopathy 1 | | 120220 / 158810 | - |
| COL6A1 | Ullrich congenital muscular dystrophy 1 | | 120220 / 254090 | - |
| COL6A2 | Bethlem myopathy 1 | | 120240 / 158810 | - |
| COL6A2 | Ullrich congenital muscular dystrophy 1 | | 120240 / 254090 | - |
| COL6A3 | Bethlem myopathy 1 | | 120250 / 158810 | - |
| COL6A3 | Ullrich congenital muscular dystrophy 1 | | 120250 / 254090 | - |
| COL7A1 | Epidermolysis bullosa dystrophica | | 120120 / 131750, 226600, 132000, 604129, 131850 | - |
| COL10A1 | Metaphyseal chondrodysplasia, Schmid type | | 120110 / 156500 | + |
| COL11A1 | Stickler syndrome, type II | | 120280 / 604841 | - |
| COL11A1 | Fibrochondrogenesis 1 | | 120280 / 228520 | - |
| COL11A1 | Marshall syndrome | | 120280 / 154780 | - |
| COL11A2 | Stickler syndrome, type III | | 120290 / 184840 | - |
| COL11A2 | Weissenbacher-Zweymuller syndrome | | 120290 / 277610 | - |
| COL11A2 | Otospondylomegaepiphyseal dysplasia | OSMED / Otospondylomegaepiphyseal dysplasia | 120290 / 215150 | - |
| COL11A2 | Fibrochondrogenesis 2 | | 120290 / 614524 | - |
| COMP | Epiphyseal dysplasia, multiple, 1 | | 600310 / 132400 | - |
| COMP | Pseudoachondroplasia | | 600310 / 177170 | - |
| CP | Aceruloplasminemia | | 117700 / 604290 | - |
| CPA1 | Pancreatitis, hereditary | | 114850 / - | - |
| CPOX | Coproporphyria | | 612732 / 121300 | - |
| CPT1B | Carnitin-Palmitoyl-Transferase IB deficiency | | 601987 / - | - |
| CPT2 | Carnitine palmitoyltransferase II deficiency | CPT II deficiency / Carnitine palmitoyltransferase II deficiency | 600650 / 55110, 600649, 608836 | - |
| CRB1 | Leber congenital amaurosis 8 | | 604210 / 613835 | - |
| CRB1 | Pigmented paravenous chorioretinal atrophy | | 604210 / 172870 | - |
| CRB1 | Retinitis pigmentosa-12, autosomal recessive | | 604210 / 600105 | - |
| CRB2 | Focal segmental glomerulosclerosis 9 | | 609720 / 616220 | - |
| CRB2 | Ventriculomegaly with cystic kidney disease | | 609720 / 219730 | - |
| CREBBP | Rubinstein-Taybi syndrome | | 600140 / 180849 | + |
| CRTAP | Osteogenesis imperfecta, type VII | | 605497 / 610682 | - |
| CSF3R | Neutrophilia, hereditary | | 138971 / 162830 | + |
| CSF3R | Neutropenia, severe congenital, 7, autosomal recessive | | 138971 / 617014 | - |
| CTH | Cystathioninuria | | 607657 / 219500 | - |
| CTNS | Cystinosis | | 606272 / 219750, 219750, 219900 | - |
| CTRC | Pancreatitis, hereditary | | 601405 / 167800 | - |
| CTSC | Haim-Munk syndrome | | 602365 / 245010 | - |
| CTSC | Papillon-Lefevre syndrome | | 602365 / 245000 | - |
| CYBA | Chronic granulomatous disease, autosomal, due to deficiency of CYBA | | 608508 / 233690 | - |
| CYBB | Chronic granulomatous disease, X-linked | | 300481 / 306400 | - |
| CYP4F22 | Ichthyosis, congenital, autosomal recessive 5 | | 611495 / 604777 | + |
| CYP7B1 | Spastic paraplegia 5A, autosomal recessive | SPG5A / Spastic paraplegia 5A, autosomal recessive | 603711 / 270800 | + |
| CYP11B1 | Adrenal hyperplasia, congenital | | 610613 / 202010 | + |
| CYP17A1 | Adrenal hyperplasia, congenital | | 609300 / 202110 | + |
| CYP21A2 | Adrenal hyperplasia, congenital | | 613815 / 201910 | + |
| CYP26C1 | Dysplasia, focal facial dermal 4 | | 608428 / 614974 | - |
| CYP27A1 | Cerebrotendinous xanthomatosis | | 606530 / 213700 | - |
| DARS2 | Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation | | 610956 / 611105 | - |
| DBT | Maple syrup urine disease, type II | | 248610 / 248600 | - |
| DHCR7 | Smith-Lemli-Opitz syndrome | | 602858 / 270400 | + |
| DIS3L2 | Perlman syndrome | | 614184 / 267000 | - |
| DKC1 | Dyskeratosis congenita, X-linked | Hoyeraal-Hreidarsson syndrome / Dyskeratosis congenita, X-linked | 300126 / 305000 | - |
| DMD | Muscular dystrophy, Becker type | Becker muscular dystrophy / Muscular dystrophy, Becker type | 300377 / 300376 | + |
| DMD | Muscular dystrophy, Duchenne type | Duchenne muscular dystrophy / Muscular dystrophy, Duchenne type | 300377 / 310200 | + |
| DMD | Cardiomyopathy, dilated, 3B | | 300377 / 302045 | + |
| DOK7 | Myasthenic syndrome, congenital, 10 | | 610285 / 254300 | - |
| DOK7 | Fetal akinesia deformation sequence | | 610285 / 208150 | - |
| DPYD | 5-fluorouracil toxicity | 5-FU toxicity / 5-fluorouracil toxicity | 612779 / 274270 | + |
| DPYD | Dihydropyrimidine dehydrogenase deficiency | | 612779 / 274270 | + |
| DPYD | 5-fluorouracil toxicity | 5-FU toxicity / 5-fluorouracil toxicity | 612779 / 274270 | + |
| DPYD | Dihydropyrimidine dehydrogenase deficiency | | 612779 / 274270 | + |
| DSG2 | Arrhythmogenic right ventricular dysplasia 10 | | 125671 / 610193 | - |
| DSG2 | Cardiomyopathy, dilated, 1BB | | 125671 / 612877 | - |
| DYM | Dyggve-Melchior-Clausen disease | | 607461 / 223800 | - |
| DYM | Smith-McCort dysplasia | | 607461 / 607326 | - |
| DYNC2H1 | Short-rib thoracic dysplasia 3 with or without polydactyly | | 603297 / 613091 | + |
| DYSF | Muscular dystrophy, limb-girdle, type 2B | | 603009 / 253601 | - |
| DYSF | Miyoshi muscular dystrophy 1 | | 603009 / 254130 | - |
| EBP | Chondrodysplasia punctata, X-linked dominant | | 300205 / 302960 | - |
| EDA | Ectodermal dysplasia 1, hypohidrotic, X-linked | Christ-Siemens-Touraine syndrome / Ectodermal dysplasia 1, hypohidrotic, X-linked | 300451 / 305100 | + |
| EDA | Oligodontia, X-linked, 1 | Tooth agenesis, selective, X-linked 1 / Oligodontia, X-linked, 1 | 300451 / 313500 | + |
| EFNB1 | Craniofrontonasal dysplasia | | 300035 / 304110 | + |
| EGLN1 | Erythrocytosis, familial, 3 | | 606425 / 609820 | - |
| EGR2 | Charcot-Marie-Tooth disease, type 1D | CMT1D / Charcot-Marie-Tooth disease, type 1D | 129010 / 607678 | + |
| EGR2 | Charcot-Marie-Tooth disease, type 4E | CMT4E / Charcot-Marie-Tooth disease, type 4E / Neuropathy, congenital hypomyelinating, 1 | 129010 / 605253 | + |
| EGR2 | Dejerine-Sottas disease | | 129010 / 145900 | + |
| ELANE | Neutropenia, severe congenital 1, autosomal dominant | | 130130 / 202700 | + |
| ELANE | Neutropenia, cyclic | | 130130 / 162800 | + |
| ELOVL4 | Stargardt disease 3 | | 605512 / 600110 | - |
| ELP4 | Benigne rolandic epilepsy | Centrotemporal epilepsy / Benigne rolandic epilepsy | 606985 / 117100 | - |
| EMD | Emery-Dreifuss muscular dystrophy 1, X-linked | | 300384 / 310300 | - |
| EMX2 | Schizencephaly | | 600035 / 269160 | - |
| ENAM | Amelogenesis imperfecta, type IB | | 606585 / 104500 | - |
| ENAM | Amelogenesis imperfecta, type IC | | 606585 / 204650 | - |
| ENG | Telangiectasia, hereditary hemorrhagic, type 1 | | 131195 / 187300 | + |
| EP300 | Rubinstein-Taybi syndrome 2 | | 602700 / 613684 | + |
| EPAS1 | Erythrocytosis, familial, 4 | | 603349 / 611783 | - |
| EPM2A | Lafora disease | Epilepsy, progressive myoclonic 2A / Lafora disease | 607566 / 254780 | + |
| EPOR | Erythrocytosis, familial, 1 | Polycythemia, primary familial / Erythrocytosis, familial, 1 | 133171 / 133100 | + |
| ESCO2 | Roberts syndrome | | 609353 / 268300 | - |
| ETFA | Glutaric acidemia IIA | MADD / Glutaric acidemia IIA / Glutaric aciduria II | 608053 / 231680 | - |
| ETFB | Glutaric acidemia IIB | MADD / Glutaric acidemia IIB / Glutaric aciduria II | 130410 / 231680 | - |
| ETFDH | Glutaric acidemia IIC | MADD / Glutaric acidemia IIC / Glutaric aciduria II | 231675 / 231680 | - |
| ETHE1 | Ethylmalonic encephalopathy | | 608451 / 602473 | - |
| EXT1 | Exostoses, multiple, type 1 | | 608177 / 133700 | - |
| EXT2 | Exostoses, multiple, type 2 | | 608210 / 133700 | - |
| EZH2 | Weaver syndrome | | 601573 / 277590 | - |
| F2 | Dysprothrombinemia | Hypoprothrombinemia / Dysprothrombinemia | 176930 / 613679 | - |
| F5 | Factor V deficiency | | 612309 / 227400 | + |
| F7 | Factor VII deficiency | | 613878 / 227500 | + |
| F8 | Hemophilia A | Factor VIII deficiency / Hemophilia A | 300841 / 306700 | - |
| F9 | Hemophilia B | Factor IX deficiency, Christmas disease / Hemophilia B | 300746 / 306900 | + |
| F10 | Factor X deficiency | | 613872 / 227600 | - |
| F11 | Factor XI deficiency | | 264900 / 612416 | - |
| F12 | Factor XII deficiency | | 610619 / 234000 | + |
| F12 | Angioedema, hereditary, type III | | 610619 / 610618 | + |
| F13A1 | Factor XIIIA deficiency | | 134570 / 613225 | - |
| F13B | Factor XIIIB deficiency | | 134580 / 613235 | - |
| FA2H | Spastic paraplegia 35, autosomal recessive | | 611026 / 612319 | - |
| FA2H | Fatty acid hydroxylase-associated neurodegeneration | FAHN / Fatty acid hydroxylase-associated neurodegeneration | 611026 / 612319 | - |
| FAH | Tyrosinemia, type I | | 613871 / 276700 | - |
| FANCA | Fanconi anemia, complementation group A | | 607139 / 227650 | - |
| FBN1 | Marfan syndrome | | 134797 / 154700 | + |
| FBN2 | Contractural arachnodactyly, congenital | | 612570 / 121050 | + |
| FBXO7 | Parkinson disease 15, autosomal recessive | | 605648 / 260300 | - |
| FECH | Protoporphyria, erythropoietic, autosomal recessive | | 612386 / 177000 | - |
| FGA | Fibrinogen: a-, dys, hypofibrinogenemia, congenital | | 134820 / 202400, 616004 | + |
| FGB | Fibrinogen: a-, dys, hypofibrinogenemia, congenital | | 134830 / 202400, 616004 | + |
| FGD1 | Aarskog-Scott syndrome | | 300546 / 300546 | + |
| FGF8 | Hypogonadotropic hypogonadism 6 with or without anosmia | Kallmann syndrome / Hypogonadotropic hypogonadism 6 with or without anosmia | 600483 / 612702 | - |
| FGF14 | Spinocerebellar ataxia 27 | SCA27 / Spinocerebellar ataxia 27 | 601515 / 609307 | - |
| FGF23 | Rickets, hypophosphatemic, autosomal dominant | | 605380 / 193100 | - |
| FGF23 | Tumoral calcinosis, hyperphosphatemic, familial | | 605380 / 211900 | - |
| FGFR1 | Hartsfield syndrome | | 136350 / 615465 | - |
| FGFR1 | Hypogonadotropic hypogonadism 2 with or without anosmia | Kallmann syndrome 2 / Hypogonadotropic hypogonadism 2 with or without anosmia | 136350 / 147950 | - |
| FGFR1 | Jackson-Weiss syndrome | | 136350 / 123150 | - |
| FGFR1 | Pfeiffer syndrome | | 136350 / 101600 | - |
| FGFR1 | Trigonocephaly 1 | | 136350 / 190440 | - |
| FGFR2 | Apert syndrome | | 176943 / 101200 | + |
| FGFR2 | Crouzon syndrome | | 176943 / 123500 | + |
| FGFR2 | Pfeiffer syndrome | | 176943 / 101600 | + |
| FGFR2 | Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis | | 176943 / 207410 | + |
| FGFR2 | Jackson-Weiss syndrome | | 176943 / 123150 | + |
| FGFR2 | Lacrimoauriculodentodigital syndrome | LADD syndrome / Lacrimoauriculodentodigital syndrome | 176943 / 149730 | + |
| FGFR3 | Achondroplasia | | 134934 / 100800 | + |
| FGFR3 | Hypochondroplasia | | 134934 / 146000 | + |
| FGFR3 | Crouzon syndrome with acanthosis nigricans | | 134934 / 612247 | + |
| FGFR3 | Camptodactyly, tall stature, and hearing loss syndrome | CATSHL syndrome / Camptodactyly, tall stature, and hearing loss syndrome | 134934 / 610474 | + |
| FGFR3 | Lacrimoauriculodentodigital syndrome | LADD syndrome / Lacrimoauriculodentodigital syndrome | 134934 / 149730 | + |
| FGFR3 | Muenke syndrome | | 134934 / 602849 | + |
| FGFR3 | Thanatophoric dysplasia | | 134934 / 187600, 187601 | + |
| FGG | Fibrinogen: a-, dys, hypofibrinogenemia, congenital | | 134850 / 202400, 616004 | + |
| FIG4 | Charcot-Marie-Tooth disease, type 4J | CMT4J / Charcot-Marie-Tooth disease, type 4J | 609390 / 611228 | - |
| FIG4 | Amyotrophic lateral sclerosis 11 | ALS / Amyotrophic lateral sclerosis 11 | 609390 / 612577 | - |
| FIG4 | Yunis-Varon syndrome | | 609390 / 216340 | - |
| FKRP | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 | Walker-Warburg syndrome / Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 / Muscle-eye-brain disease | 606596 / 613153 | - |
| FKRP | Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 | | 606596 / 606612 | - |
| FKRP | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 | Limb-girdle muscular dystrophy type 2I / Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 | 606596 / 607155 | - |
| FKTN | Cardiomyopathy, dilated, 1X | | 607440 / 611615 | + |
| FKTN | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 | Fukuyama congenital muscular dystrophy / Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 / Walker-Warburg syndrome | 607440 / 253800 | + |
| FKTN | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 | | 607440 / 611588 | + |
| FKTN | Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 | | 607440 / 613152 | + |
| FLNA | Otopalatodigital spectrum disorders (Otopalatodigital syndrome types 1 and 2 / Frontometaphyseal dysplasia / Melnick-Needles syndrome / Terminal osseous dysplasia) | | 300017 / 311300, 304120, 305620, 309350, 300244 | - |
| FLNA | Cardiac valvular dysplasia, X-linked | | 300017 / 314400 | - |
| FLNA | Short bowel syndrome, congenital | | 300017 / 300048 | - |
| FLNA | FG syndrome 2 | | 300017 / 300321 | - |
| FLNA | Heterotopia, periventricular | | 300017 / 300049 | - |
| FLNA | Intestinal pseudoobstruction, neuronal | | 300017 / 300048 | - |
| FLNB | Larsen syndrome | | 603381 / 150250 | - |
| FOXG1 | Rett syndrome, congenital variant | | 164874 / 613454 | + |
| FOXL2 | Blepharophimosis, epicanthus inversus, and ptosis | | 605597 / 110100 | - |
| FRAS1 | Fraser syndrome | | 607830 / 219000 | - |
| FRMD7 | Nystagmus, infantile periodic alternating, X-linked | Nystagmus 1, congenital, X-linked / Nystagmus, infantile periodic alternating, X-linked | 300628 / 310700 | - |
| FTL | Hyperferritinemia-cataract syndrome | | 134790 / 600886 | - |
| FTL | Neuroferritinopathy | Neurodegeneration with brain iron accumulation 3 / Neuroferritinopathy | 134790 / 606159 | - |
| FUCA1 | Fucosidosis | | 612280 / 230000 | - |
| FXN | Friedreich ataxia | | 606829 / 229300 | - |
| G6PC | Glycogen storage disease Ia | | 613742 / 232200 | - |
| G6PD | Favism | Glucose-6-phosphate dehydrogenase deficiency / Favism | 305900 / 134700 | - |
| GAA | Glycogen storage disease II | | 606800 / 232300 | + |
| GABRB3 | Epilepsy, childhood absence, susceptibility to, 5 | | 137192 / 612269 | - |
| GABRG2 | Epilepsy, generalized, with febrile seizures plus, type 3 | | 137164 / 611277 | - |
| GALC | Krabbe disease | | 606890 / 245200 | + |
| GALE | Galactose epimerase deficiency | | 606953 / 230350 | - |
| GALK1 | Galactokinase deficiency with cataracts | | 604313 / 230200 | - |
| GALNS | Mucopolysaccharidosis IVA | | 612222 / 253000 | + |
| GALT | Galactosemia | | 606999 / 230400 | - |
| GAMT | Cerebral creatine deficiency syndrome 2 | Guanidinoacetate methyltransferase deficiency / Cerebral creatine deficiency syndrome 2 | 601240 / 612736 | - |
| GARS | Charcot-Marie-Tooth disease, type 2D | | 600287 / 601472 | - |
| GARS | Neuropathy, distal hereditary motor, type VA | | 600287 / 600794 | - |
| GATM | Cerebral creatine deficiency syndrome 3 | Arginine:glycine amidinotransferase deficiency / Cerebral creatine deficiency syndrome 3 | 602360 / 612718 | - |
| GBA | Gaucher disease | | 606463 / 608013, 230800, 230900, 231000 | + |
| GCDH | Glutaricaciduria, type I | | 608801 / 231670 | - |
| GCH1 | Dystonia, DOPA-responsive, with or without hyperphenylalaninemia | | 600225 / 128230 | + |
| GCH1 | Hyperphenylalaninemia, BH4-deficient, B | | 600225 / 233910 | + |
| GCK | MODY, type II | | 138079 / 125851 | + |
| GDAP1 | Charcot-Marie-Tooth disease, axonal, type 2K | CMT2K / Charcot-Marie-Tooth disease, axonal, type 2K | 606598 / 607831 | - |
| GDAP1 | Charcot-Marie-Tooth disease, axonal, with vocal cord paresis | CMT4C4 / Charcot-Marie-Tooth disease, axonal, with vocal cord paresis | 606598 / 607706 | - |
| GDAP1 | Charcot-Marie-Tooth disease, recessive intermediate, A | CMTRIA / Charcot-Marie-Tooth disease, recessive intermediate, A | 606598 / 608340 | - |
| GDAP1 | Charcot-Marie-Tooth disease, type 4A | CMT4A / Charcot-Marie-Tooth disease, type 4A | 606598 / 214400 | - |
| GFAP | Alexander disease | | 137780 / 203450 | - |
| GHR | Growth hormone insensitivity, partial | | 600946 / 604271 | - |
| GHR | Laron syndrome | | 600946 / 262500 | - |
| GIF | Intrinsic factor deficiency | | 609342 / 261000 | - |
| GJB1 | Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 | | 304040 / 302800 | + |
| GJB2 | Deafness, autosomal dominant 3A | DFNA3A / Deafness, autosomal dominant 3A | 121011 / 601544 | - |
| GJB2 | Deafness, autosomal recessive 1A | DFNB1A / Deafness, autosomal recessive 1A | 121011 / 220290 | - |
| GJB2 | KID/HID syndrome | | 121011 / 148210, 602540 | - |
| GJB2 | Vohwinkel syndrome | | 121011 / 124500 | - |
| GJB2 | Bart-Pumphrey syndrome | | 121011 / 149200 | - |
| GJB2 | Keratoderma, palmoplantar, with deafness | | 121011 / 148350 | - |
| GJB3 | Deafness, autosomal dominant 3A | DFNA3A / Deafness, autosomal dominant 3A | 603324 / 612644 | - |
| GJB3 | Deafness, autosomal recessive 1A | DFNB1A / Deafness, autosomal recessive 1A / Deafness, digenic, GJB2/GJB3 | 603324 / 220290 | - |
| GJB3 | Erythrokeratodermia variabilis et progressiva | | 603324 / 133200 | - |
| GJB4 | Erythrokeratodermia variabilis with erythema gyratum repens | | 605425 / 133200 | - |
| GLA | Fabry disease | | 300644 / 301500 | + |
| GLB1 | GM1-gangliosidosis | | 611458 / 230500, 230600, 230650 | - |
| GLB1 | Mucopolysaccharidosis type IVB, Morquio | | 611458 / 253010 | - |
| GLDC | Glycine encephalopathy | | 238300 / 605899 | - |
| GLI2 | Holoprosencephaly 9 | | 165230 / 610829 | - |
| GLI2 | Culler-Jones syndrome | | 165230 / 615849 | - |
| GLI3 | Greig cephalopolysyndactyly syndrome | | 165240 / 175700 | - |
| GLI3 | Pallister-Hall syndrome | | 165240 / 146510 | - |
| GLRA1 | Hyperekplexia, hereditary 1 | | 138491 / 149400 | - |
| GLUD1 | Hyperinsulinism-hyperammonemia syndrom | | 138130 / 606762 | - |
| GMNN | Meier-Gorlin syndrome 6 | | 602842 / 616835 | - |
| GNA11 | Hypocalciuric hypercalcemia, type II | | 139313 / 145981 | - |
| GNA11 | Hypocalcemia, autosomal dominant 2 | | 139313 / 615361 | - |
| GNAL | Dystonia 25 | DYT25 / Dystonia 25 | 139312 / 615073 | - |
| GNPTAB | Mucolipidosis II alpha/beta | I-cell disease / Mucolipidosis II alpha/beta / | 607840 / 252500 | + |
| GNS | Mucopolysaccharidosis type IIID | Sanfilippo syndrome D / Mucopolysaccharidosis type IIID / | 607664 / 252940 | + |
| GP1BA | Bernard-Soulier syndrome | | 606672 / 231200, 153670 | + |
| GP1BB | Bernard-Soulier syndrome | | 138720 / 231200 | + |
| GP9 | Bernard-Soulier syndrome | | 173515 / 231200 | + |
| GPC3 | Simpson-Golabi-Behmel syndrome, type 1 | | 300037 / 312870 | - |
| GPC3 | Wilms tumor, somatic | | 300037 / 194070 | - |
| GPC3 | Wilms tumor, somatic | | 300037 / 194070 | - |
| GPR143 | Ocular albinism, type I, Nettleship-Falls type | | 300808 / 300500 | + |
| GPR143 | Nystagmus 6, congenital, X-linked | | 300808 / 300814 | + |
| GRHL3 | Van der Woude syndrome 2 | | 608317 / 606713 | - |
| GRHPR | Hyperoxaluria, primary, type II | | 604296 / 260000 | - |
| GRHPR | Hyperoxaluria, primary, type II | | 604296 / 260000 | - |
| GRIN2A | Epilepsy, focal, with speech disorder and with or without mental retardation | | 138253 / 245570 | + |
| GRIN2A | Landau-Kleffner syndrome | | 138253 / 245570 | + |
| GRIN2A | Rolandic epilepsy | | 138253 / 245570 | + |
| GRN | Ceroid lipofuscinosis, neuronal, 11 | CLN11 / Ceroid lipofuscinosis, neuronal, 11 | 138945 / 614706 | - |
| GRN | Aphasia, primary progressive | Frontotemporal lobar degeneration with ubiquitin-positive inclusions / Aphasia, primary progressive | 138945 / 607485 | - |
| GUSB | Mucopolysaccharidosis VII | | 611499 / 253220 | + |
| HADHA | Trifunctional protein deficiency | Mitochondrial trifunctional protein deficiency / Trifunctional protein deficiency | 600890 / 609015 | - |
| HADHA | LCHAD deficiency | Fatty liver, acute, of pregnancy / LCHAD deficiency / HELLP syndrome, maternal, of pregnancy | 600890 / 609016 | - |
| HAMP | Hemochromatosis, type 2B | | 606464 / 606464 | + |
| HAX1 | Neutropenia, severe congenital 3, autosomal recessive | | 605998 / 610738 | + |
| HBA1 | Alpha-Thalassemia | | 141800 / 604131 | + |
| HBA2 | Alpha-Thalassemia | | 141850 / 604131 | + |
| HBB | Beta-Thalassemia | Thalassemia, beta- / Beta-Thalassemia | 141900 / 603902, 613985 | + |
| HBB | Delta-beta thalassemia | Thalassemia, delta-beta- / Delta-beta thalassemia | 141900 / 141749 | + |
| HBB | Sickle cell anemia | | 141900 / 603903 | + |
| HCN4 | Brugada syndrome 8 | | 605206 / 613123 | - |
| HCN4 | Sick sinus syndrome 2 | | 605206 / 163800 | - |
| HCRT | Narcolepsy-1 | | 602358 / 161400 | + |
| HESX1 | Septooptic dysplasia | | 601802 / 182230 | - |
| HEXA | Tay-Sachs disease, GM2-Gangliosidosis 1 | | 606869 / 272800 | + |
| HEXB | Sandhoff disease, GM2 Gangliosidose 2 | | 606873 / 268800 | + |
| HFE | Hemochromatosis, type 1 | | 613609 / 235200 | + |
| HFE | Hemochromatosis, type 1 | | 613609 / 235200 | + |
| HGSNAT | Mucopolysaccharidosis type IIIC, Sanfilippo C | | 610453 / 252930 | - |
| HJV | Hemochromatosis, type 2A | | 608374 / 602390 | + |
| HMBS | Porphyria, acute intermittent | | 609806 / 176000 | + |
| HMGCL | 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency | HMG-CoA lyase deficiency / 3-Hydroxy-3-methylglutaryl-CoA lyase deficiency / | 613898 / 246450 | + |
| HNF1A | MODY, type 3 | | 142410 / 600496 | + |
| HNF1B | MODY, type 5 | Renal cysts and diabetes syndrome / MODY, type 5 / | 189907 / 137920 | + |
| HNF4A | MODY, type I | | 600281 / 125850 | + |
| HOGA1 | Hyperoxaluria, primary, type III | | 613597 / 613616 | - |
| HOXA13 | Hand-foot-genital syndrome | Hand-foot-uterus syndrome / Hand-foot-genital syndrome | 142959 / 140000 | - |
| HPRT1 | Lesch-Nyhan syndrome | | 308000 / 300322 | + |
| HPRT1 | Kelley-Seegmiller syndrome | | 308000 / 300323 | + |
| HRAS | Costello syndrome | | 190020 / 218040 | - |
| HRAS | Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic | | 190020 / 163200 | - |
| HS6ST1 | Hypogonadotropic hypogonadism 15 with or without anosmia | Kallmann syndrome / Hypogonadotropic hypogonadism 15 with or without anosmia | 604846 / 614880 | - |
| HSD3B2 | 3-beta-hydroxysteroid dehydrogenase, type II, deficiency | | 613890 / 201810 | + |
| HSN2-Isoform von WNK1 | Neuropathy, hereditary sensory and autonomic, type II | HSAN2A / Neuropathy, hereditary sensory and autonomic, type II | 605232 / 201300 | - |
| HSPB1 | Charcot-Marie-Tooth disease, axonal, type 2F | | 602195 / 606595 | - |
| HSPB1 | Neuropathy, distal hereditary motor, type IIB | | 602195 / 608634 | - |
| HSPB8 | Charcot-Marie-Tooth disease, axonal, type 2L | | 608014 / 608673 | - |
| HSPB8 | Neuropathy, distal hereditary motor, type IIA | | 608014 / 158590 | - |
| HSPD1 | Spastic paraplegia 13, autosomal dominant | | 118190 / 605280 | + |
| HTT | Huntington disease | | 613004 / 143100 | + |
| HYLS1 | Hydrolethalus syndrome | | 610693 / 236680 | - |
| IDS | Mucopolysaccharidosis II | | 300823 / 309900 | - |
| IDUA | Mucopolysaccharidosis I | | 252800 / 607014, 607015, 607016 | - |
| IFRD1 | Spinocerebellar ataxia 18 | SCA18 / Spinocerebellar ataxia 18 | 603502 / 607458 | - |
| IFT80 | Short-rib thoracic dysplasia 2 with or without polydactyly | | 611177 / 611263 | + |
| IGHMBP2 | Charcot-Marie-Tooth disease, axonal, type 2S | | 600502 / 616155 | - |
| IGHMBP2 | Neuronopathy, distal hereditary motor, type VI | | 600502 / 604320 | - |
| IKBKAP | Dysautonomia, familial | | 603722 / 223900 | - |
| IKBKG (NEMO) | Incontinentia pigmenti | | 300248 / 308300 | - |
| IRF6 | Popliteal pterygium syndrome 1 | | 607199 / 119500 | - |
| IRF6 | Van der Woude syndrome | | 607199 / 119300 | - |
| ISPD | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 | | 614631 / 616052 | - |
| ISPD | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 | | 614631 / 614643 | - |
| ITGA2B | Glanzmann thrombasthenia | | 607759 / 273800 | + |
| ITGB3 | Glanzmann thrombasthenia | | 173470 / 273800 | - |
| ITM2B | Dementia, familial British | | 603904 / 176500 | - |
| ITM2B | Dementia, familial Danish | | 603904 / 117300 | - |
| JAG1 | Alagille syndrome | | 601920 / 118450 | + |
| JAG1 | Tetralogy of Fallot | | 601920 / 187500 | + |
| KAT6B | Ohdo syndrome, SBBYS variant | SBBYSS / Ohdo syndrome, SBBYS variant / | 605880 / 603736 | - |
| KAT6B | Genitopatellar syndrome | | 605880 / 606170 | - |
| KCNC3 | Spinocerebellar ataxia 13 | SCA13 / Spinocerebellar ataxia 13 | 176264 / 605259 | - |
| KCNE1 | Long QT syndrome 5 | | 176261 / 613695 | - |
| KCNE1 | Jervell-Lange-Nielsen syndrome 2 | | 176261 / 612347 | - |
| KCNE2 | Long QT syndrome 6 | | 603796 / 613693 | - |
| KCNH2 | Long QT syndrome 2 | | 152427 / 613688 | - |
| KCNH2 | Short QT syndrome 1 | | 152427 / 609620 | - |
| KCNJ1 | Bartter syndrome, type 2 | | 600359 / 241200 | - |
| KCNQ1 | Long QT syndrome 1 | | 607542 / 192500 | - |
| KCNQ1 | Jervell-Lange-Nielsen syndrome | | 607542 / 220400 | - |
| KCNQ1 | Short QT syndrome 2 | | 607542 / 609621 | - |
| KCNQ2 | Seizures, benign neonatal, type 1 | | 602235 / 121200 | + |
| KCNQ3 | Seizures, benign neonatal, type 2 | | 602232 / 121201 | + |
| KCNT1 | Epileptic encephalopathy, early infantile, 14 | | 608167 / 614959 | - |
| KCNT1 | Epilepsy, nocturnal frontal lobe, 5 | | 608167 / 615005 | - |
| KDM6A | Kabuki syndrome 2 | | 300128 / 300867 | - |
| KIAA0196 | Spastic paraplegia 8, autosomal dominant | | 610657 / 603563 | + |
| KIF1B | Charcot-Marie-Tooth disease, type 2A1 | | 605995 / 118210 | - |
| KIF5A | Spastic paraplegia 10, autosomal dominant | | 602821 / 602821 | + |
| KIF7 | Hydrolethalus syndrome 2 | | 611254 / 614120 | - |
| KIF7 | Acrocallosal syndrome | | 611254 / 200990 | - |
| KIF7 | Joubert syndrome 12 | | 611254 / 200990 | - |
| KIF21A | Fibrosis of extraocular muscles, congenital | | 608283 / 135700 | - |
| KIF23 | Anemia, congenital dyserythropoietic, type III | | 605064 / 105600 | - |
| KISS1 | Hypogonadotropic hypogonadism 13 with or without anosmia | Kallmann syndrome / Hypogonadotropic hypogonadism 13 with or without anosmia | 603286 / 614842 | - |
| KISS1R | Hypogonadotropic hypogonadism 8 with or without anosmia | Kallmann syndrome / Hypogonadotropic hypogonadism 8 with or without anosmia | 604161 / 614837 | - |
| KLKB1 | Prekallikrein deficiency | Fletcher factor deficiency / Prekallikrein deficiency | 229000 / 612423 | - |
| KMT2A | Wiedemann-Steiner syndrome | | 159555 / 605130 | - |
| KMT2D (MLL2) | Kabuki syndrome 1 | | 602113 / 147920 | - |
| KRAS | KRAS-associated cancer | | 190070 / 137215, 109800, 114480, 211980, 260350 | + |
| KRAS | KRAS-associated cancer | | 190070 / 137215, 109800, 114480, 211980, 260350 | + |
| KRAS | Noonan syndrome 3 | | 190070 / 609942 | + |
| KRAS | Cardiofaciocutaneous syndrome 2 | | 190070 / 615278 | + |
| KRAS | Schimmelpenning-Feuerstein-Mims syndrome | | 190070 / 163200 | + |
| KRIT1 | Cerebral cavernous malformations 1 | | 604214 / 116860 | + |
| L1CAM | Spastic paraplegia 1 | MASA syndrome / Spastic paraplegia 1 / | 308840 / 303350 | + |
| LAMA2 | Muscular dystrophy, congenital, due to partial LAMA2 deficiency | Muscular dystrophy, congenital merosin-deficient / Muscular dystrophy, congenital, due to partial LAMA2 deficiency | 156225 / 607855 | - |
| LAMB3 | Epidermolysis bullosa, junctional, Herlitz type | | 608451 / 226700 | - |
| LAMB3 | Epidermolysis bullosa, junctional, non-Herlitz type | | 608451 / 226650 | - |
| LAMB3 | Amelogenesis imperfecta, type IA | | 608451 / 104530 | - |
| LCAT | Norum disease | | 606967 / 245900 | - |
| LCAT | Fish-eye disease | | 606967 / 136120 | - |
| LCT-spezifischer Enhancer in MCM6 | Lactose intolerance, adult type | | 601806 / 223100 | + |
| LCT | Lactase deficiency, congenital | | 603202 / 223000 | - |
| LDLR | Familial hypercholesterolemia | | 606945 / 143890 | + |
| LDLRAP1 | Hypercholesterolemia, familial, autosomal recessive | | 605747 / 603813 | - |
| LEP | Obesity, morbid, due to leptin deficiency | | 164160 / 614962 | - |
| LEPR | Obesity, morbid, due to leptin receptor deficiency | | 601007 / 614963 | + |
| LIPA | Wolman disease | | 613497 / 278000 | - |
| LIPA | Cholesteryl ester storage disease | | 613497 / 278000 | - |
| LITAF | Charcot-Marie-Tooth disease, demyelinating, type 1C | | 603795 / 601098 | + |
| LMF1 | Lipase deficiency, combined | | 611761 / 246650 | + |
| LMNA | Charcot-Marie-Tooth disease, type 2B1 | | 150330 / 605588 | - |
| LMNA | Cardiomyopathy, dilated, 1A | | 150330 / 115200 | - |
| LMX1B | Nail-patella syndrome | | 602575 / 161200 | - |
| LPL | Hyperlipoproteinemia, type 1 | Lipoprotein lipase deficiency / Hyperlipoproteinemia, type 1 / | 609708 / 609708 | + |
| LYZ | Amyloidosis, renal | | 153450 / 105200 | - |
| MAN2B1 | Mannosidosis, alpha-, types I and II | | 609458 / 248500 | - |
| MANBA | Mannosidosis, beta | | 609489 / 248510 | - |
| MAP2K1 | Cardiofaciocutaneous syndrome 3 | | 176872 / 615279 | + |
| MATN3 | Epiphyseal dysplasia, multiple, 5 | | 602109 / 607078 | - |
| MATN3 | Spondyloepimetaphyseal dysplasia | | 602109 / 608728 | - |
| MAX | Paraganglioma-pheochromocytoma syndromes, hereditary | Pheochromocytoma / Paraganglioma-pheochromocytoma syndromes, hereditary | 154950 / 171300 | - |
| MC3R | Obesity, severe | | 155540 / 602025 | - |
| MC4R | Obesity, autosomal dominant | | 155541 / 601665 | + |
| MECP2 | Rett syndrome | | 300005 / 312750 | + |
| MED12 | Lujan-Fryns syndrome | Mental retardation, x-linked, with marfanoid habitus / Lujan-Fryns syndrome | 300188 / 309520 | - |
| MED12 | Ohdo syndrome, X-linked | Blepharophimosis-mental retardation syndrome, Maat-Kievit-Brunner type / Ohdo syndrome, X-linked | 300188 / 300895 | - |
| MED12 | Opitz-Kaveggia syndrome | FG syndrome / Opitz-Kaveggia syndrome | 300188 / 305450 | - |
| MED25 | Charcot-Marie-Tooth disease, type 2B2 | | 610197 / 605589 | - |
| MED25 | Basel-Vanagait-Smirin-Yosef syndrome | BVSYS / Basel-Vanagait-Smirin-Yosef syndrome | 610197 / 616449 | - |
| MEFV | Familial Mediterranean fever | | 608107 / 249100, 134610 | + |
| MEN1 | Multiple endocrine neoplasia 1 | | 613733 / 131100 | + |
| MET | Renal cell carcinoma, papillary, 1, familial and somatic | | 164860 / 605074 | - |
| MET | Hepatocellular carcinoma, childhood type, somatic | | 164860 / 114550 | - |
| MET | Hepatocellular carcinoma, childhood type, somatic | | 164860 / 114550 | - |
| MFN2 | Charcot-Marie-Tooth disease, type 2A2 | | 608507 / 609260 | - |
| MITF | Tietz syndrome | | 156845 / 103500 | - |
| MITF | Waardenburg syndrome, type 2A | | 156845 / 193510 | - |
| MKRN3 | Precocious puberty, central, 2 | | 603856 / 615346 | - |
| MKS1 | Bardet-Biedl syndrome 13 | | 609883 / 615990 | - |
| MKS1 | Meckel syndrome 1 | Meckel-Gruber syndrome / Meckel syndrome 1 | 609883 / 249000 | - |
| MLC1 | Megalencephalic leukoencephalopathy with subcortical cysts | | 605908 / 604004 | - |
| MLH1 | Hereditary nonpolyposis colorectal cancer, type 2 | HNPCC2 / Hereditary nonpolyposis colorectal cancer, type 2 / | 120436 / 609310 | + |
| MMAA | Methylmalonic aciduria, vitamin B12-responsive, cblA type | | 607481 / 251100 | - |
| MOG | Narcolepsy 7 | | 159465 / 614250 | + |
| MPZ | Charcot-Marie-Tooth disease, demyelinating, type 1B | CMT1B / Charcot-Marie-Tooth disease, demyelinating, type 1B / | 159440 / 118200 | + |
| MSH2 | Hereditary nonpolyposis colorectal cancer, type 1 | HNPCC1 / Hereditary nonpolyposis colorectal cancer, type 1 / Lynch syndrome 1 | 609309 / 120435 | + |
| MSH6 | Hereditary nonpolyposis colorectal cancer, type 5 | HNPCC5 / Hereditary nonpolyposis colorectal cancer, type 5 / | 600678 / 614350 | + |
| MT-ATP6 | Leber hereditary optic neuropathy | LHON / Leber hereditary optic neuropathy | 516060 / 535000 | + |
| MT-ATP6 | Leigh syndrome | | 516060 / 256000 | + |
| MT-ATP6 | NARP syndrome | | 516060 / 551500 | + |
| MTHFR | Homocystinuria due to MTHFR deficiency | | 607093 / 236250 | + |
| MTHFR | Homocystinuria due to MTHFR deficiency | | 607093 / 236250 | - |
| MTMR2 | Charcot-Marie-Tooth disease, type 4B1 | | 603557 / 601382 | - |
| MT-ND1 | Leber hereditary optic neuropathy | LHON / Leber hereditary optic neuropathy | 516000 / 535000 | + |
| MT-ND1 | Leigh syndrome | | 516000 / 256000 | + |
| MT-ND1 | MELAS | | 516000 / 540000 | + |
| MT-ND2 | Leber hereditary optic neuropathy | LHON / Leber hereditary optic neuropathy | 516001 / 535000 | + |
| MT-ND2 | Leigh syndrome | | 516001 / 256000 | + |
| MT-ND4 | Leber optic atrophy and dystonia | | 516003 / 500001 | + |
| MT-ND4 | Leber hereditary optic neuropathy | LHON / Leber hereditary optic neuropathy | 516003 / 535000 | + |
| MT-ND4 | Leigh syndrome | | 516003 / 256000 | + |
| MT-ND4 | MELAS | | 516003 / 540000 | + |
| MT-ND4L | Leber hereditary optic neuropathy | LHON / Leber hereditary optic neuropathy | 516004 / 535000 | + |
| MT-ND5 | Leber hereditary optic neuropathy | LHON / Leber hereditary optic neuropathy | 516005 / 535000 | + |
| MT-ND5 | Leigh syndrome | | 516005 / 256000 | + |
| MT-ND5 | MELAS | | 516005 / 540000 | + |
| MT-ND5 | MERRF | | 516005 / 545000 | + |
| MT-ND6 | Leber optic atrophy and dystonia | | 516006 / 500001 | + |
| MT-ND6 | Leber hereditary optic neuropathy | LHON / Leber hereditary optic neuropathy | 516006 / 535000 | + |
| MT-ND6 | Leigh syndrome | | 516006 / 256000 | + |
| MT-ND6 | MELAS | | 516006 / 540000 | + |
| MTR | Homocystinuria-megaloblastic anemia, cblG complementation type | | 156570 / 250940 | - |
| MT-TF | MELAS | | 590070 / 540000 | + |
| MT-TF | MERRF | | 590070 / 545000 | + |
| MT-TK | Diabetes and deafness, maternally inherited | MIDD / Diabetes and deafness, maternally inherited | 590060 / 520000 | + |
| MT-TK | Leigh syndrome | | 590060 / 256000 | + |
| MT-TK | MERRF | | 590060 / 545000 | + |
| MT-TL1 | Diabetes and deafness, maternally inherited | MIDD / Diabetes and deafness, maternally inherited | 590050 / 520000 | + |
| MT-TL1 | Leigh syndrome | | 590050 / 256000 | + |
| MT-TL1 | MELAS | | 590050 / 540000 | + |
| MT-TL1 | MERRF | | 590050 / 545000 | + |
| MT-TP | MERRF | | 590075 / 545000 | + |
| MUT | Methylmalonic aciduria | | 609058 / 251000 | - |
| MUTYH | Polyposis-2, familial adenomatous | FAP2 / Polyposis-2, familial adenomatous | 604933 / 132600 | + |
| MVK | Hyper-IgD syndrome | | 251170 / 260920 | + |
| MVK | Mevalonic aciduria | | 251170 / 610377 | + |
| MYBPC3 | Cardiomyopathy, dilated, 1MM | | 600958 / 615396 | - |
| MYBPC3 | Cardiomyopathy, hypertrophic, 4 | | 600958 / 115197 | - |
| MYBPC3 | Left ventricular noncompaction 10 | | 600958 / 615396 | - |
| MYH3 | Arthrogryposis, typ 2A, Freeman-Sheldon-Syndrome | | 160720 / 193700 | + |
| MYH3 | Arthrogryposis, typ 2B, Sheldon-Hall syndrome | | 160720 / 601680 | + |
| MYH7 | Cardiomyopathy, dilated, 1S | | 160760 / 613426 | - |
| MYH7 | Cardiomyopathy, hypertrophic, 1 | | 160760 / 192600 | - |
| MYH7 | Left ventricular noncompaction 5 | | 160760 / 613426 | - |
| MYH8 | Carney complex variant | | 160741 / 608837 | - |
| MYH8 | Trismus-pseudocamptodactyly syndrome | Arthrogryposis, distal, type 7 / Trismus-pseudocamptodactyly syndrome | 160741 / 158300 | - |
| MYH9 | MYH9-related disorders (Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome) | | 160775 / 153650, 153640, 155100, 605249 | + |
| MYH9 | MYH9-related disorders (Epstein syndrome, Fechtner syndrome) | | 160775 / 153650, 153640 | + |
| MYH9 | MYH9-related disorders (Epstein syndrome, Fechtner syndrome) | | 160775 / 153650, 153640 | + |
| MYH11 | Aortic aneurysm, familial thoracic 4 | | 160745 / 132900 | - |
| MYL3 | Cardiomyopathy, hypertrophic, 8 | | 160790 / 608751 | + |
| MYO1E | Glomerulosclerosis, focal segmental, 6 | | 601479 / 614131 | - |
| NAGA | Schindler disease | | 104170 / 609241 | + |
| NAGLU | Mucopolysaccharidosis type IIIB | Sanfilippo B / Mucopolysaccharidosis type IIIB | 609701 / 252920 | + |
| NAT2 | Acetylation, slow | | 612182 / 243400 | - |
| NBEAL2 | Gray platelet syndrome | | 614169 / 139090 | - |
| NBN | Breast-ovarian cancer, familial | | 602667 / - | - |
| NBN | Nijmegen breakage syndrome | | 602667 / 251260 | - |
| NDP | Norrie disease | | 300658 / 310600 | - |
| NDP | Exudative vitreoretinopathy 2, X-linked | | 300658 / 305390 | - |
| NDRG1 | Charcot-Marie-Tooth disease, type 4D | CMT4D / Charcot-Marie-Tooth disease, type 4D | 605262 / 601455 | - |
| NDUFS3 | Leigh syndrome due to mitochondrial complex I deficiency | | 603846 / 256000 | - |
| NDUFS3 | Mitochondrial complex I deficiency | | 603846 / 252010 | - |
| NEFL | Charcot-Marie-Tooth disease, type 1F | CMT1F / Charcot-Marie-Tooth disease, type 1F | 162280 / 607734 | - |
| NEFL | Charcot-Marie-Tooth disease, type 2E | CMT2E / Charcot-Marie-Tooth disease, type 2E | 162280 / 607684 | - |
| NEU1 | Sialidosis, type I and type II | Neuraminidase deficiency / Sialidosis, type I and type II | 608272 / 256550 | - |
| NEUROD1 | MODY, type 6 | Maturity-onset diabetes of the young type 6 / MODY, type 6 | 601724 / 606394 | + |
| NF1 | Neurofibromatosis, type 1 | | 613113 / 162200 | + |
| NF2 | Neurofibromatosis, type 2 | | 607379 / 101000 | - |
| NFIX | Sotos syndrome 2 | Malan syndrome / Sotos syndrome 2 | 164005 / 614753 | - |
| NFIX | Marshall-Smith syndrome | | 164005 / 602535 | - |
| NGF (NGFB) | Neuropathy, hereditary sensory and autonomic, type V | HSAN5 / Neuropathy, hereditary sensory and autonomic, type V | 162030 / 608654 | - |
| NIPA1 | Spastic paraplegia 6, autosomal dominant | SPG6 / Spastic paraplegia 6, autosomal dominant / | 608145 / 600363 | + |
| NIPBL | Cornelia de Lange syndrome 1 | | 608667 / 122470 | - |
| NLRP3 | CINCA syndrome | | 606416 / 607115 | + |
| NLRP3 | Inflammatory syndrome, cold-induced, familial, type 1 | FCAS1 / Inflammatory syndrome, cold-induced, familial, type 1 | 606416 / 120100 | + |
| NLRP3 | Muckle-Wells syndrome | | 606416 / 191900 | + |
| NLRP12 | Inflammatory syndrome, cold-induced, familial, type 2 | FCAS2 / Inflammatory syndrome, cold-induced, familial, type 2 / | 609648 / 611762 | + |
| NOD2 | Blau syndrome | | 605956 / 186580 | - |
| NOD2 | Inflammatory bowel disease 1 | Crohn disease / Inflammatory bowel disease 1 | 605956 / 266600 | - |
| NOG | Brachydactyly, type B2 | | 602991 / 611377 | - |
| NOG | Multiple synostoses syndrome 1 | | 602991 / 186500 | - |
| NOG | Stapes ankylosis with broad thumb and toes | | 602991 / 184460 | - |
| NOG | Symphalangism, proximal, 1A | | 602991 / 185800 | - |
| NOG | Tarsal-carpal coalition syndrome | | 602991 / 186570 | - |
| NOTCH2 | Alagille syndrome 2 | | 600275 / 610205 | - |
| NOTCH2 | Hajdu-Cheney syndrome | | 600275 / 102500 | + |
| NOTCH3 | CADASIL | | 600276 / 125310 | + |
| NPC1 | Niemann-Pick disease, type C | | 607623 / 257220 | - |
| NPC2 | Niemann-pick disease, type C2 | | 601015 / 607625 | - |
| NPHS1 | Nephrotic syndrome, type 1 | Finnish congenital nephrosis / Nephrotic syndrome, type 1 | 602716 / 256300 | - |
| NPHS2 | Nephrotic syndrome, type 2 | | 604766 / 600995 | - |
| NPR2 | Acromesomelic dysplasia, Maroteaux type | | 108961 / 602875 | - |
| NR0B1 | 46XY sex reversal 2, dosage-sensitive | | 300473 / 300018 | - |
| NR0B1 | Adrenal hypoplasia, congenital | | 300473 / 300200 | - |
| NRAS | Noonan syndrome 6 | | 164790 / 613224 | + |
| NRAS | Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic | | 164790 / 163200 | - |
| NRAS | Colorectal cancer, somatic | | 164790 / 114500 | - |
| NSD1 | Sotos syndrome 1 | | 606681 / 117550 | - |
| NSD1 | Beckwith-Wiedemann syndrome | | 606681 / 130650 | - |
| NSMF | Hypogonadotropic hypogonadism 9 with or without anosmia | Kallmann syndrome / Hypogonadotropic hypogonadism 9 with or without anosmia | 608137 / 614838 | - |
| OCA2 | Albinism, oculocutaneous, type II | | 611409 / 203200 | + |
| OCLN | Band-like calcification with simplified gyration and polymicrogyria | | 602876 / 251290 | - |
| OCRL | Lowe syndrome | | 300535 / 309000 | - |
| OCRL | Dent disease 2 | | 300535 / 300555 | - |
| OFD1 | Joubert syndrome 10 | | 300170 / 300804 | - |
| OFD1 | Orofaciodigital syndrome I | | 300170 / 311200 | - |
| OFD1 | Simpson-Golabi-Behmel syndrome, type 2 | | 300170 / 300209 | - |
| OPHN1 | Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance | | 300127 / 300486 | - |
| ORC1 | Meier-Gorlin syndrome 1 | | 601902 / 224690 | - |
| ORC4 | Meier-Gorlin syndrome 2 | | 603056 / 613800 | - |
| ORC6 | Meier-Gorlin syndrome 3 | | 607213 / 613803 | - |
| OTC | Ornithine transcarbamylase deficiency | | 300461 / 311250 | - |
| P2RY12 | Bleeding disorder, platelet-type, 8 | | 600515 / 609821 | - |
| PAH | Phenylketonuria | | 612349 / 261600 | + |
| PAH | Hyperphenylalaninemia | | 612349 / 261600 | + |
| PALB2 | Breast cancer, susceptibility to | | 610355 / 114480 | + |
| PALB2 | Pancreatic cancer, susceptibility to, 3 | | 610355 / 613348 | + |
| PALB2 | Fanconi anemia, complementation group N | | 610355 / 610832 | + |
| PANK2 | Neurodegeneration with brain iron accumulation 1 | Pantothenate kinase-associated neurodegeneration / Neurodegeneration with brain iron accumulation 1 / Hallervorden-Spatz disease | 606157 / 234200 | - |
| PARK2 | Parkinson disease, juvenile, type 2 | | 602544 / 600116 | - |
| PARK7 (DJ1) | Parkinson disease 7, autosomal recessive early-onset | | 602533 / 606324 | - |
| PAX3 | Waardenburg syndrome, type 1 | | 606597 / 193500 | - |
| PAX3 | Waardenburg syndrome, type 3 | | 606597 / 148820 | - |
| PCBD1 | Hyperphenylalaninemia | | 126090 / 264070 | - |
| PCCA | Propionicacidemia | | 232000 / 606054 | - |
| PCCB | Propionicacidemia | | 232000 / 606054 | - |
| PCDH19 | Epileptic encephalopathy, early infantile, 9 | EIEE9 / Epileptic encephalopathy, early infantile, 9 / | 300460 / 300088 | + |
| PCNT | Microcephalic osteodysplastic primordial dwarfism, type II | | 605925 / 210720 | - |
| PCNT | Seckel syndrome | | 605925 / 210600 | - |
| PCSK9 | Hypercholesterolemia, familial, 3 | | 607786 / 603776 | + |
| PDCD10 | Cerebral cavernous malformations 3 | | 609118 / 603285 | - |
| PDE4D | Acrodysostosis 2, with or without hormone resistance | | 600129 / 614613 | - |
| PDGFRA (aus nativem Material) | Gastrointestinal stromal tumor, somatic | | 173490 / 606764 | + |
| PDGFRB | Myeloproliferative disorder with eosinophilia | | 173410 / 131440 | - |
| PDGFRB | Basal ganglia calcification, idiopathic, 4 | | 173410 / 615007 | - |
| PDGFRB | Myofibromatosis, infantile, 1 | | 173410 / 228550 | - |
| PDGFRB | Premature aging syndrome, Penttinen type | | 173410 / 601812 | - |
| PDHA1 | Pyruvate dehydrogenase E1-alpha deficiency | | 300502 / 312170 | - |
| PDX1 | MODY, type IV | | 600733 / 606392 | + |
| PDX1 | Pancreatic agenesis 1 | | 600733 / 260370 | + |
| PDYN | Spinocerebellar ataxia 23 | SCA23 / Spinocerebellar ataxia 23 | 131340 / 610245 | - |
| PEX7 | Chondrodysplasia punctata, rhizomelic, type 1 | | 601757 / 215100 | - |
| PEX7 | Peroxisome biogenesis disorder 9B | | 601757 / 614879 | - |
| PGAP2 | Hyperphosphatasia with mental retardation syndrome 3 | Mabry syndrome / Hyperphosphatasia with mental retardation syndrome 3 | 615187 / 614207 | - |
| PGAP3 | Hyperphosphatasia with mental retardation syndrome 4 | Mabry syndrome / Hyperphosphatasia with mental retardation syndrome 4 | 611801 / 615716 | - |
| PGM1 | Congenital disorder of glycosylation, type It | CDG1T / Congenital disorder of glycosylation, type It | 171900 / 614921 | - |
| PHEX | Rickets, hypophosphatemic, X-linked dominant | | 300550 / 307800 | - |
| PHF6 | Borjeson-Forssman-Lehmann syndrome | | 300414 / 301900 | - |
| PHGDH | Phosphoglycerate dehydrogenase deficiency | | 606879 / 601815 | - |
| PHGDH | Neu-Laxova syndrome 1 | | 606879 / 256520 | - |
| PHYH | Refsum disease | | 602026 / 266500 | + |
| PIGO | Hyperphosphatasia with mental retardation syndrome 2 | Mabry syndrome / Hyperphosphatasia with mental retardation syndrome 2 | 614730 / 614749 | - |
| PIGV | Hyperphosphatasia with mental retardation syndrome 3 | Mabry syndrome / Hyperphosphatasia with mental retardation syndrome 3 | 610274 / 239300 | - |
| PIK3CA | Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic | | 171834 / 602501 | - |
| PIK3CA | CLOVES syndrome, somatic | | 171834 / 612918 | - |
| PIK3CA | Cowden syndrome 5 | | 171834 / 615108 | - |
| PINK1 | Parkinson disease 6, early onset | | 608309 / 605909 | - |
| PKD1 | Polycystic kidney disease, adult type I | | 601313 / 173900 | + |
| PKD2 | Polycystic kidney disease 2 | | 173910 / 613095 | + |
| PKHD1 | Polycystic kidney and hepatic disease | | 606702 / 263200 | + |
| PKLR | Pyruvate kinase deficiency | | 609712 / 266200 | - |
| PKP2 | Arrhythmogenic right ventricular dysplasia 9 | | 602861 / 609040 | - |
| PLA2G6 | Neurodegeneration with brain iron accumulation | | 603604 / 256600, 610217 | - |
| PLEKHG4 | Spinocerebellar ataxia 4 | | 609526 / 600223 | - |
| PLOD1 | Ehlers-Danlos syndrome, type VI | | 153454 / 225400 | + |
| PLP1 | Pelizaeus-Merzbacher disease | PMD / Pelizaeus-Merzbacher disease / | 300401 / 312080 | + |
| PLP1 | Spastic paraplegia 2, X-linked | | 300401 / 312920 | + |
| PMM2 | Congenital disorder of glycosylation, type Ia | | 601785 / 212065 | - |
| PMP22 | Charcot-Marie-Tooth disease, demyelinating, type 1A | CMT1A / Charcot-Marie-Tooth disease, demyelinating, type 1A / | 601097 / 118220 | + |
| PMP22 | Hereditary neuropathy with liability to pressure palsies | HNPP / Hereditary neuropathy with liability to pressure palsies / | 601097 / 162500 | + |
| PMP22 | Dejerine-Sottas syndrome | DSS / Dejerine-Sottas syndrome / | 601097 / 145900 | + |
| PMS1 | Colon cancer, hereditary nonpolyposis | HNPCC / Colon cancer, hereditary nonpolyposis / Lynch syndrome | 600258 / - | - |
| PMS2 | Hereditary nonpolyposis colorectal cancer, type 4 | HNPCC4 / Hereditary nonpolyposis colorectal cancer, type 4 / | 600259 / 614337 | + |
| PNKD (MR1) | Paroxysmal nonkinesigenic dyskinesia | | 609023 / 118800 | - |
| PNP | Purine nucleoside phosphorylase deficiency | | 164050 / 613179 | - |
| PNPLA3 | Fatty liver disease, nonalcoholic, susceptibility to, 1 | | 609567 / 613282 | + |
| PNPLA6 | Boucher-Neuhauser syndrome | | 603197 / 215470 | - |
| PNPLA6 | Laurence-Moon syndrome | | 603197 / 245800 | - |
| PNPLA6 | Spastic paraplegia 39, autosomal recessive | SPG39 / Spastic paraplegia 39, autosomal recessive | 603197 / 612020 | - |
| PNPLA6 | Oliver-McFarlane syndrome | | 603197 / 275400 | - |
| POLG | POLG-related disorders (Progressive external ophthalmoplegia / Mitochondrial DNA depletion syndrome, Alpers type) | | 174763 / 203700, 157640, 258450 | - |
| POLG2 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 | PEOA4 / Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 | 604983 / 610131 | - |
| POLR1C | Treacher Collins syndrome 3 | | 610060 / 248390 | + |
| POLR1D | Treacher Collins syndrome 2 | | 613715 / 613717 | + |
| POMC | Obesity, adrenal insufficiency, and red hair due to POMC deficiency | | 176830 / 609734 | - |
| POMGNT1 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 | | 253280 / 613157 | + |
| POMGNT1 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 | Walker-Warburg syndrome / Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 | 253280 / 253280 | + |
| POMGNT1 | Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3 | | 253280 / 613151 | + |
| PORCN | Focal dermal hypoplasia | Goltz syndrome / Focal dermal hypoplasia | 300651 / 305600 | - |
| POU1F1 | Pituitary hormone deficiency, combined, 1 | | 173110 / 613038 | - |
| PPOX | Porphyria variegata | | 600923 / 176200 | - |
| PPT1 | Ceroid lipofuscinosis, neuronal, 1 | CLN1 / Ceroid lipofuscinosis, neuronal, 1 | 600722 / 256730 | - |
| PREPL | Hypotonia-cystinuria syndrome | | 609557 / 606407 | - |
| PRKAG2 | Wolff-Parkinson-White syndrome | | 602743 / 194200 | - |
| PRKAG2 | Cardiomyopathy, famimlial hypertrophic, 6 | | 602743 / 600858 | - |
| PRKAG2 | Glycogen storage disease of heart, lethal congenital | | 602743 / 261740 | - |
| PRKAR1A | Acrodysostosis 1, with or without hormone resistance | | 188830 / 101800 | - |
| PRKAR1A | Carney complex, type 1 | | 188830 / 160980 | - |
| PRKCG | Spinocerebellar ataxia 14 | | 176980 / 605361 | - |
| PRKRA | Dystonia 16 | DYT16 / Dystonia 16 | 603424 / 612067 | - |
| PRNP | Huntington disease-like 1 | | 176640 / 603218 | + |
| PRNP | Creutzfeldt-Jakob disease | | 176640 / 123400 | + |
| PRNP | Gerstmann-Straussler disease | | 176640 / 137440 | + |
| PRNP | Insomnia, fatal familial | | 176640 / 600072 | + |
| PROC | Thrombophilia due to protein C deficiency | | 612283 / 176860, 612304 | + |
| PROK2 | Hypogonadotropic hypogonadism 4 with or without anosmia | Kallmann syndrome / Hypogonadotropic hypogonadism 4 with or without anosmia | 607002 / 610628 | - |
| PROM1 | Stargardt disease 4 | | 604365 / 603786 | - |
| PROM1 | Cone-rod dystrophy 12 | | 604365 / 612657 | - |
| PROM1 | Macular dystrophy, retinal, 2 | | 604365 / 608051 | - |
| PROP1 | Pituitary hormone deficiency, combined, 2 | | 601538 / 262600 | - |
| PROS1 | Thrombophilia due to protein S deficiency | | 176880 / 612336, 614514 | + |
| PRPS1 | Charcot-Marie-Tooth disease, X-linked recessive, 5 | | 311850 / 311070 | - |
| PRPS1 | Deafness, X-linked 1 | | 311850 / 304500 | - |
| PRRT2 | Seizures, benign familial infantile, 2 | | 614386 / 605751 | - |
| PRRT2 | Convulsions, familial infantile, with paroxysmal choreoathetosis | | 614386 / 602066 | - |
| PRRT2 | Episodic kinesigenic dyskinesia 1 | | 614386 / 128200 | - |
| PRSS1 | Pancreatitis, hereditary | | 276000 / 167800 | + |
| PRX | Charcot-Marie-Tooth disease, type 4F | | 605725 / 614895 | - |
| PRX | Dejerine-Sottas disease | | 605725 / 145900 | - |
| PSAP | Combined SAP deficiency | | 176801 / 611721 | - |
| PSAP | Gaucher disease, atypical | | 176801 / 610539 | - |
| PSAP | Krabbe disease, atypical | | 176801 / 611722 | - |
| PSAP | Metachromatic leukodystrophy due to SAP-b deficiency | | 176801 / 249900 | - |
| PSEN1 | Alzheimer disease, type 3, early onset | | 104311 / 607822 | - |
| PSEN1 | Cardiomyopathy, dilated, 1U | | 104311 / 613694 | - |
| PSEN2 | Alzheimer disease, type 4 | | 600759 / 606889 | - |
| PSEN2 | Cardiomyopathy, dilated, 1V | | 600759 / 613697 | - |
| PTCH1 | Basal cell nevus syndrome | | 601309 / 109400 | - |
| PTCH1 | Holoprosencephaly 7 | | 601309 / 610828 | - |
| PTCH2 | Basal cell nevus syndrome | | 603673 / 109400 | - |
| PTEN | PTEN-associated disease [e.g. Cowden syndrom, Polyposis syndrome, Bannayan-Riley-Ruvalcaba syndrome] | | 601728 / 158350, 601728, 153480 | + |
| PTPN11 | LEOPARD syndrome 1 | | 176876 / 151100 | - |
| PTPN11 | Metachondromatosis | | 176876 / 156250 | - |
| PTPN11 | Noonan syndrome 1 | | 176876 / 163950 | + |
| PTS | Hyperphenylalaninemia, BH4-deficient, A | | 612719 / 261640 | - |
| PYGM | McArdle disease | | 608455 / 232600 | - |
| QDPR | Hyperphenylalaninemia, BH4-deficient, C | | 612676 / 261630 | - |
| RAB7A | Charcot-Marie-Tooth disease, type 2B | CMT2B / Charcot-Marie-Tooth disease, type 2B | 602298 / 600882 | - |
| RAB27A | Griscelli syndrome, type 2 | | 603868 / 607624 | - |
| RAD21 | Cornelia de Lange syndrome 4 | | 606462 / 614701 | - |
| RAD51C | Breast-ovarian cancer, familial, 3 | | 602774 / 613399 | + |
| RAD51D | Breast-ovarian cancer, familial, susceptibility to, 4 | | 602954 / 614291 | - |
| RAF1 | Noonan syndrome, type 5 | | 164760 / 611553 | + |
| RAPSN | Fetal akinesia deformation sequence | Pena-Shokeir syndrome, type 1 / Fetal akinesia deformation sequence | 601592 / 208150 | - |
| RAPSN | Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency | | 601592 / 616326 | - |
| RASA1 | Parkes Weber syndrome | | 139150 / 608355 | - |
| RASA1 | Capillary malformation-arteriovenous malformation | | 139150 / 608354 | - |
| RB1 | Small-cell cancer of lung | | 614041 / 182280 | - |
| RB1 | Retinoblastoma | | 614041 / 180200 | - |
| RBM8A | Thrombocytopenia-absent radius syndrome | | 605313 / 274000 | - |
| RECQL4 | Baller-Gerold syndrome | | 603780 / 218600 | - |
| RECQL4 | RAPADILINO syndrome | | 603780 / 266280 | - |
| RECQL4 | Rothmund-Thomson syndrome | | 603780 / 268400 | - |
| REEP1 | Spastic paraplegia 31, autosomal dominant | SPG31 / Spastic paraplegia 31, autosomal dominant / | 609139 / 610250 | + |
| RET | Multiple endocrine neoplasia, type 2 | MEN2 / Multiple endocrine neoplasia, type 2 / | 164761 / 171400, 162300 | + |
| RIT1 | Noonan syndrome 8 | | 609591 / 615355 | + |
| ROR2 | Brachydactyly, type B1 | | 602337 / 113000 | - |
| ROR2 | Robinow syndrome, autosomal recessive | | 602337 / 268310 | - |
| RPGR | Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness | | 312610 / 300455 | - |
| RPGR | Retinitis pigmentosa 3 | | 312610 / 300029 | - |
| RPGR | Cone-rod dystrophy, X-linked, 1 | Macular degeneration, X-linked atrophic / Cone-rod dystrophy, X-linked, 1 | 312610 / 304020, 300834 | - |
| RPS6KA3 | Coffin-Lowry syndrome | | 300075 / 303600 | - |
| RPS6KA3 | Mental retardation, X-linked 19 | | 300075 / 300844 | - |
| RS1 | Retinoschisis | | 300839 / 312700 | - |
| RUNX1 | Leukemia, acute myeloid | AML / Leukemia, acute myeloid | 151385 / 601626 | - |
| RUNX1 | Platelet disorder, familial, with associated myeloid malignancy | | 151385 / 601399 | - |
| RUNX2 | Cleidocranial dysplasia (CCD) | | 600211 / 119600 | + |
| RYR1 | Malignant hyperthermia | King-Denborough syndrome / Malignant hyperthermia | 180901 / 145600 | - |
| RYR1 | Central core disease | | 180901 / 117000 | - |
| RYR2 | Arrhythmogenic right ventricular dysplasia 2 | | 180902 / 600996 | - |
| RYR2 | Ventricular tachycardia, catecholaminergic polymorphic, 1 | | 180902 / 604772 | - |
| SACS | Spastic ataxia, Charlevoix-Saguenay type | ARSACS / Spastic ataxia, Charlevoix-Saguenay type | 604490 / 270550 | - |
| SALL1 | Townes-Brocks syndrome | | 602218 / 107480 | - |
| SBDS | Shwachman-Diamond syndrome | | 607444 / 260400 | + |
| SBF2 | Charcot-Marie-Tooth disease, type 4B2 | CMT4B2 / Charcot-Marie-Tooth disease, type 4B2 | 607697 / 604563 | - |
| SCN1A | Dravet syndrome | Early infantile epileptic encephalopathy-6 / Dravet syndrome | 182389 / 607208 | - |
| SCN1A | Epilepsy, generalized, with febrile seizures plus, type 2 | GEFSP2 / Epilepsy, generalized, with febrile seizures plus, type 2 | 182389 / 604403 | - |
| SCN1A | Migraine, familial hemiplegic, 3 | | 182389 / 609634 | - |
| SCN1B | Epilepsy, generalized, with febrile seizures plus, type 1 | GEFSP1 / Epilepsy, generalized, with febrile seizures plus, type 1 | 600235 / 604233 | - |
| SCN1B | Brugada syndrome 5 | | 600235 / 612838 | - |
| SCN2A | Epileptic encephalopathy, early infantile, 11 | | 182390 / 613721 | - |
| SCN2A | Seizures, benign familial infantile, 3 | | 182390 / 607745 | - |
| SCN2A | Epilepsy, generalized, with febrile seizures plus | GEFSP / Epilepsy, generalized, with febrile seizures plus | 182390 / - | - |
| SCN4A | Myasthenic syndrome, congenital, 16 | | 603967 / 614198 | - |
| SCN4A | Myotonia congenita, atypical, acetazolamide-responsive | | 603967 / 608390 | - |
| SCN4A | Hyperkalemic periodic paralysis, type 2 | | 603967 / 170500 | - |
| SCN4A | Hypokalemic periodic paralysis, type 2 | | 603967 / 613345 | - |
| SCN4A | Paramyotonia congenita | | 603967 / 168300 | - |
| SCN5A | Brugada syndrome 1 | | 600163 / 601144 | - |
| SCN5A | Heart block | | 600163 / 113900 | - |
| SCN5A | Cardiomyopathy, dilated, 1E | | 600163 / 601154 | - |
| SCN5A | Long QT syndrome-3 | | 600163 / 603830 | - |
| SCN9A | Epilepsy, generalized, with febrile seizures plus, type 7 | GEFSP7 / Epilepsy, generalized, with febrile seizures plus, type 7 | 603415 / 613863 | + |
| SCN9A | Dravet syndrome | | 603415 / 607208 | + |
| SCN9A | Erythermalgia, primary | | 603415 / 133020 | + |
| SCN9A | Paroxysmal extreme pain disorder | | 603415 / 167400 | + |
| SCN9A | Indifference to pain, congenital | | 603415 / 243000 | + |
| SCN10A | Episodic pain syndrome, familial, 2 | | 604427 / 615551 | - |
| SCN11A | Episodic pain syndrome, familial, 3 | | 604385 / 615552 | - |
| SCN11A | Neuropathy, hereditary sensory and autonomic, type VII | | 604385 / 615548 | - |
| SCNN1B | Bronchiectasis with or without elevated sweat chloride 1 | | 600760 / 211400 | - |
| SCNN1B | Liddle syndrome | | 600760 / 177200 | - |
| SCNN1B | Pseudohypoaldosteronism, type I | | 600760 / 264350 | - |
| SCNN1G | Bronchiectasis with or without elevated sweat chloride 3 | | 600761 / 613071 | - |
| SCNN1G | Liddle syndrome | | 600761 / 177200 | - |
| SCNN1G | Pseudohypoaldosteronism, type I | | 600761 / 264350 | - |
| SDHA | Cardiomyopathy, dilated, 1GG | | 600857 / 613642 | - |
| SDHA | Leigh syndrome | | 600857 / 256000 | - |
| SDHA | Paragangliomas 5 | | 600857 / 614165 | - |
| SDHA | Mitochondrial respiratory chain complex II deficiency | | 600857 / 252011 | - |
| SDHB | Paragangliomas 4 | | 185470 / 115310 | + |
| SDHC | Paragangliomas 3 | | 602413 / 605373 | + |
| SDHC | Carney-Stratakis syndrome | | 602413 / 606864 | + |
| SDHC | Gastrointestinal stromal tumor | GIST / Gastrointestinal stromal tumor / | 602413 / 606764 | + |
| SDHD | Paraganglioma and gastric stromal sarcoma | Carney-Stratakis syndrome / Paraganglioma and gastric stromal sarcoma | 602690 / 606864 | - |
| SDHD | Cowden syndrome 3 | | 602690 / 615106 | - |
| SDHD | Pheochromocytoma | | 602690 / 171300 | - |
| SDHD | Mitochondrial complex II deficiency | | 602690 / 252011 | - |
| SEPT9 | Amyotrophy, hereditary neuralgic | HNA / Amyotrophy, hereditary neuralgic / | / 162100 | + |
| SERPINA1 | Alpha-1-Antitrypsin deficiency | | 107400 / 613490 | + |
| SERPINA1 | Alpha-1-Antitrypsin deficiency | | 107400 / 613490 | + |
| SERPINC1 | Thrombophilia due to antithrombin III deficiency | | 107300 / 613118 | + |
| SERPING1 (C1NH) | Angioedema, hereditary, types I and II | | 606860 / 106100 | + |
| SETBP1 | Schinzel-Giedion midface retraction syndrome | | 611060 / 269150 | - |
| SF3B4 | Acrofacial dysostosis 1, Nager type | | 605593 / 154400 | + |
| SGCA | Muscular dystrophy, limb-girdle, type 2D | | 600119 / 608099 | - |
| SGCB | Muscular dystrophy, limb-girdle, type 2E | | 600900 / 604286 | + |
| SGCD | Muscular dystrophy, limb-girdle, type 2F | | 601411 / 601287 | + |
| SGCD | Cardiomyopathy, dilated, 1L | | 601411 / 606685 | + |
| SGCE | Dystonia-11, myoclonic | DYT11 / Dystonia-11, myoclonic | 604149 / 159900 | - |
| SGCG | Muscular dystrophy, limb-girdle, type 2C | | 608896 / 253700 | + |
| SGSH | Mucopolysaccharidisis type IIIA | Sanfilippo A / Mucopolysaccharidisis type IIIA | 605270 / 252900 | + |
| SH2D1A | Lymphoproliferative syndrome, X-linked, 1 | | 300490 / 308240 | - |
| SH3TC2 | Charcot-Marie-Tooth disease, type 4C | CMT4C / Charcot-Marie-Tooth disease, type 4C | 608206 / 601596 | - |
| SHH | Holoprosencephaly 3 | | 600725 / 142945 | - |
| SHH | Single median maxillary central incisor | SMMCI / Single median maxillary central incisor | 600725 / 147250 | - |
| SHOX | Short stature, idiopathic familial | | 312865 / 300582 | + |
| SHOX | Langer mesomelic dysplasia | | 312865 / 249700 | + |
| SHOX | Leri-Weill dyschondrosteosis | | 312865 / 127300 | + |
| SIK1 | Epileptic encephalopathy, early infantile, 30 | | 605705 / 616341 | - |
| SIX3 | Holoprosencephaly 2 | | 603714 / 157170 | - |
| SLC2A1 | Dystonia 9 | DYT9 / Dystonia 9 / | 138140 / 601042 | + |
| SLC2A1 | Epilepsy, idiopathic generalized, susceptibility to, 12 | | 138140 / 614847 | + |
| SLC2A1 | GLUT1 deficiency syndrome | | 138140 / 606777, 612126 | + |
| SLC9A6 | Mental retardation, X-linked syndromic, Christianson type | Christianson type of X-linked syndromic mental retardation / Mental retardation, X-linked syndromic, Christianson type | 300231 / 300243 | - |
| SLC12A3 | Gitelman syndrome | | 600968 / 263800 | - |
| SLC12A6 | Agenesis of the corpus callosum with peripheral neuropathy | Andermann Syndrome / Agenesis of the corpus callosum with peripheral neuropathy | 604878 / 218000 | - |
| SLC25A1 | Combined D-2- and L-2-hydroxyglutaric aciduria | | 190315 / 615182 | - |
| SLC25A4 | Mitochondrial DNA depletion syndrome 12, cardiomyopathic type | | 103220 / 615418 | - |
| SLC25A4 | Ophthalmoplegia, progressive external, with mitochondrial DNA deletions, autosomal dominant 2 | | 103220 / 609283 | - |
| SLC26A2 (DTDST) | Achondrogenesis Ib | | 606718 / 600972 | - |
| SLC26A2 (DTDST) | Atelosteogenesis II | | 606718 / 256050 | - |
| SLC26A2 (DTDST) | Diastrophic dysplasia | | 606718 / 222600 | - |
| SLC26A2 (DTDST) | Epiphyseal dysplasia, multiple, 4 | | 606718 / 226900 | - |
| SLC26A4 | Pendred syndrome | | 605646 / 274600 | - |
| SLC26A4 | Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | | 605646 / 600791 | - |
| SLC33A1 | Spastic paraplegia 42, autosomal dominant | SPG42 / Spastic paraplegia 42, autosomal dominant / | 603690 / 612539 | + |
| SLC40A1 | Hemochromatosis type 4 | | 604653 / 606069 | + |
| SLC45A2 | Albinism, oculocutaneous, type IV | | 606202 / 606574 | - |
| SLC45A2 | Albinism, oculocutaneous, type IV | | 606202 / 606574 | - |
| SMAD4 | Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome | | 600993 / 175050 | - |
| SMAD4 | Myhre syndrome | | 600993 / 139210 | - |
| SMARCB1 | Rhabdoid predisposition syndrome 1 | | 601607 / 609322 | + |
| SMC1A | Cornelia de Lange syndrome 2 | | 300040 / 300590 | - |
| SMN1 | Spinal muscular atrophy-1/-2/-3/-4 | | 600354 / 253300, 253550, 253400, 271150 | + |
| SMO | Basal cell carcinoma, somatic | | 601500 / - | - |
| SMPD1 | Niemann-Pick disease, type A/B | | 607608 / 257200, 607616 | + |
| SNCA | Parkinson disease type 1 / type 4 | | 163890 / 163890 | - |
| SNRPB | Cerebrocostomandibular syndrome | | 182282 / 117650 | - |
| SOD1 | Amyotrophic lateral sclerosis 1 | | 147450 / 105400 | - |
| SOD2 | Superoxide dismutase 2 polymorphism | | 147460 / - | - |
| SOS1 | Noonan syndrome 4 | | 182530 / 610733 | + |
| SOX9 | Campomelic dysplasia | | 608160 / 114290 | - |
| SOX11 | Coffin-Siris syndrome 1 | Mental retardation, autosomal dominant, 27 / Coffin-Siris syndrome 1 | 600898 / 135900, 615866 | - |
| SPAST | Spastic paraplegia 4, autosomal dominant | SPG4 / Spastic paraplegia 4, autosomal dominant / | 604277 / 182601 | + |
| SPG7 | Spastic paraplegia 7, autosomal recessive | SPG7 / Spastic paraplegia 7, autosomal recessive / | 602783 / 607259 | + |
| SPG11 | Spastic paraplegia 11, autosomal recessive | SPG11 / Spastic paraplegia 11, autosomal recessive / | 610844 / 604360 | + |
| SPG20 | Spastic paraplegia 20, autosomal recessive | SPG20 / Spastic paraplegia 20, autosomal recessive / Troyer syndrome | 607111 / 275900 | + |
| SPG21 | Spastic paraplegia 21, autosomal recessive | SPG21 / Spastic paraplegia 21, autosomal recessive / Mast syndrome | 608181 / 248900 | + |
| SPINK1 | Pancreatitis, hereditary | | 167790 / 167800 | + |
| SPR | Dystonia, dopa-responsive, due to sepiapterin reductase deficiency | | 182125 / 612716 | - |
| SPRED1 | Legius syndrome | | 609291 / 611431 | - |
| SPTBN2 | Spinocerebellar ataxia 5 | SCA5 / Spinocerebellar ataxia 5 | 604985 / 600224 | - |
| SPTBN2 | Spinocerebellar ataxia, autosomal recessive 14 | SCAR14 / Spinocerebellar ataxia, autosomal recessive 14 | 604985 / 615386 | - |
| SPTLC1 | Neuropathy, hereditary sensory and autonomic, type IA | | 605712 / 62400 | - |
| SRPX2 | Rolandic epilepsy, mental retardation, and speech dyspraxia | | 300642 / 300643 | - |
| SRSF2 | Myelodysplastic syndrome | MDS / Myelodysplastic syndrome | 600813 / - | - |
| SRY | Sex reversal 1 | Hermaphroditism, true / Sex reversal 1 | 480000 / 400044, 400045 | - |
| STAT3 | Hyper-IgE recurrent infection syndrome | | 102582 / 147060 | + |
| STAT3 | Autoimmune disease, multisystem, infantile-onset, 1 | | 102582 / 615952 | + |
| STK11 | Peutz-Jeghers syndrome | | 602216 / 175200 | - |
| STRADA | Polyhydramnios, megalencephaly, and symptomatic epilepsy | PMSE syndrome / Polyhydramnios, megalencephaly, and symptomatic epilepsy | 608626 / 611087 | - |
| STS | Ichthyosis, X-linked | | 300747 / 308100 | + |
| STXBP1 | Epileptic encephalopathy, early infantile, 4 | | 602926 / 612164 | - |
| SUMF1 | Sulfatase deficiency, multiple | | 607939 / 272200 | - |
| SURF1 | Leigh syndrome | | 185620 / 256000 | - |
| SURF1 | Charcot-Marie-Tooth disease, type 4K | | 185620 / 616684 | - |
| TACR3 | Hypogonadotropic hypogonadism 11 with or without anosmia | Kallmann syndrome / Hypogonadotropic hypogonadism 11 with or without anosmia | 162332 / 614840 | - |
| TAT | Tyrosinemia, type II | | 613018 / 276600 | - |
| TBC1D24 | Myoclonic epilepsy, infantile, familial | | 613577 / 605021 | + |
| TBC1D24 | DOORS syndrome | | 613577 / 220500 | + |
| TBC1D24 | Deafness, autosomal dominant 65 | | 613577 / 616044 | + |
| TBC1D24 | Deafness , autosomal recessive 86 | | 613577 / 614617 | + |
| TBX1 | 22q11.2-deletions-syndrome (DiGeorge syndrome / Tetrology of Fallot / Velocardiofacial syndrome) | | 602054 / 188400, 187500, 192430 | - |
| TBX5 | Holt-Oram syndrome | | 601620 / 142900 | - |
| TBX5 | Holt-Oram syndrome | | 601620 / 142900 | - |
| TCIRG1 | Osteopetrosis, autosomal recessive 1 | | 604592 / 259700 | - |
| TCOF1 | Treacher Collins syndrome 1 | | 606847 / 154500 | - |
| TET2 | Myelodysplastic syndrome, somatic | MDS / Myelodysplastic syndrome, somatic | 612839 / 614286 | - |
| TFR2 | Hemochromatosis type 3 | | 604720 / 604250 | + |
| TGDS | Catel-Manzke syndrome | | 616146 / 616145 | - |
| TGFB3 | Arrhythmogenic right ventricular dysplasia 1 | | 190230 / 107970 | - |
| TGFB3 | Loeys-Dietz syndrome 5 | | 190230 / 615582 | - |
| TGFBR1 | Loeys-Dietz syndrome 1 | | 190181 / 609192 | + |
| TGFBR2 | Loeys-Dietz syndrome 2 | | 190182 / 610168 | + |
| TGFBR2 | Colorectal cancer, hereditary nonpolyposis, type 6 | | 190182 / 614331 | + |
| TGIF1 | Holoprosencephaly-4 | HPE / Holoprosencephaly-4 | 602630 / 142946 | - |
| TGM1 | Ichthyosis, congenital, autosomal recessive 1 | | 190195 / 242300 | - |
| TH | Segawa syndrome, recessive | Dystonia, dopa-responsive, autosomal recessive / Segawa syndrome, recessive | 191290 / 605407 | - |
| THAP1 | Torsion dystonia 6 | DYT6 / Torsion dystonia 6 / | 609520 / 602629 | + |
| THRB | Thyroid hormone resistance, generalized | | 190160 / 188570, 274300 | + |
| THRB | Thyroid hormone resistance, selective pituitary | | 190160 / 145650 | + |
| TIMP1 | Abdominal aortic aneurysm, association | | 305370 / - | - |
| TMEM67 | Joubert syndrome 6 | | 609884 / 610688 | - |
| TMEM127 | Pheochromocytoma | | 613403 / 171300 | + |
| TMEM237 | Joubert syndrome 14 | | 614423 / 614424 | - |
| TNFRSF1A | Periodic fever, familial | | 191190 / 142680 | + |
| TNNI2 | Arthrogryposis, distal, type 2B, Sheldon-Hall syndrome | | 191043 / 601680 | + |
| TNNI3 | Cardiomyopathy, dilated, 1FF | | 191044 / 613286 | + |
| TNNI3 | Cardiomyopathy, hypertrophic, 7 | | 191044 / 613690 | + |
| TNNT2 | Cardiomyopathy, dilated, 1D | | 191045 / 601494 | + |
| TNNT2 | Cardiomyopathy, hypertrophic, 2 | | 191045 / 115195 | + |
| TNNT3 | Arthrogrypose, Typ 2B, Sheldon-Hall-Syndrom | | 600692 / 601680 | + |
| TNXB | Ehlers-Danlos syndrome due to tenascin X deficiency | | 600985 / 606408 | - |
| TOR1A | Torsion dystonia 1 | DYT1 / Torsion dystonia 1 / | 605204 / 128100 | + |
| TP53 | TP53 associated neoplasia, familial type (e.g. adrenal cortical carcinoma, breast cancer, Li-Fraumeni syndrome) | | 191170 / 202300, 114480, 151623 und weitere | - |
| TP63 | ADULT syndrome | | 603273 / 103285 | - |
| TP63 | Hay-Wells syndrome | | 603273 / 106260 | - |
| TP63 | EEC syndrome 3 | | 603273 / 604292 | - |
| TP63 | Limb-mammary syndrome | | 603273 / 603543 | - |
| TP63 | Rapp-Hodgkin syndrome | | 603273 / 129400 | - |
| TP63 | Split-hand/foot malformation 4 | | 603273 / 605289 | - |
| TPM1 | Cardiomyopathy, hypertrophic, 3 | | 191010 / 115196 | + |
| TPM2 | Arthrogryposis multiplex congenita, distal, type 1 | | 190990 / 108120 | + |
| TPM2 | Arthrogryposis, distal, type 2B | | 190990 / 601680 | + |
| TPM2 | CAP myopathy 2 | | 190990 / 609285 | + |
| TPM2 | Nemaline myopathy 4, autosomal dominant | | 190990 / 609285 | + |
| TPP1 | Ceroid lipofuscinosis, neuronal, 2 | | 607998 / 204500 | - |
| TPP1 | Spinocerebellar ataxia, autosomal recessive 7 | SCAR7 / Spinocerebellar ataxia, autosomal recessive 7 | 607998 / 609270 | - |
| TREX1 | Aicardi-Goutieres syndrome 1 | | 606609 / 225750 | - |
| TREX1 | Chilblain lupus | | 606609 / 610448 | - |
| TREX1 | Retinal vasculopathy, with cerebral leukodystrophy | | 606609 / 192315 | - |
| TRPV4 | TRPV4-assoziierte neuromuskuläre Erkrankungen (CMT2C / SPSMA / CDSMA) | | 605427 / 606071, 600175, 181405 | - |
| TRPV4 | TRPV4-assoziierte Skelettdysplasien (FDAB / BCYM3 / SED, Maroteaux type / SMD, Kozlowski type / Dysplasia, parastremmatic / Dysplasia, metatropic) | | 605427 / 606835, 113500, 184095, 184252, 168400, 156530 | - |
| TSC1 | Tuberous sclerosis 1 | | 605284 / 191100 | + |
| TSC2 | Tuberous sclerosis 2 | | 191092 / 613254 | + |
| TSEN54 | Pontocerebellar hypoplasia | | 608755 / 610204, 277470, 225753 | + |
| TSHR | Hyperthyroidism, nonautoimmune | | 603372 / 609152 | - |
| TSHR | Hypothyroidism, congenital, nongoitrous, 1 | | 603372 / 275200 | - |
| TSHR | Hyperthyroidism, familial gestational | | 603372 / 603373 | - |
| TSPEAR | Deafness, autosomal recessive 98 | | 612920 / 614861 | - |
| TTBK2 | Spinocerebellar ataxia 11 | | 611695 / 604432 | - |
| TTPA | Ataxia with isolated vitamin E deficiency | | 600415 / 277460 | - |
| TTR | Amyloidosis, hereditary, transthyretin-related | | 176300 / 105210 | - |
| TUBB4A | Leukodystrophy, hypomyelinating, 6 | | 602662 / 612438 | - |
| TUBB4A | Dystonia 4, torsion, autosomal dominant | DYT4 / Dystonia 4, torsion, autosomal dominant | 602662 / 128101 | - |
| TWIST2 | Ablepharon-macrostomia syndrome | | 607556 / 200110 | - |
| TWIST2 | Barber-Say syndrome | | 607556 / 209885 | - |
| TWIST2 | Focal facial dermal dysplasia 3, Setleis type | | 607556 / 227260 | - |
| TYR | Albinism, oculocutaneous, type IA | | 606933 / 203100 | + |
| TYR | Albinism, oculocutaneous, type IB | | 606933 / 606952 | + |
| TYRP1 | Albinism, oculocutaneous, type III | | 115501 / 203290 | - |
| UBE3A | Angelman syndrome | | 601623 / 105830 | + |
| UBR1 | Johanson-Blizzard syndrome | | 605981 / 243800 | + |
| UGT1A1 | Gilbert syndrome | | 191740 / 143500 | + |
| UGT1A1 | Crigler-Najjar syndrome, type I | | 191740 / 218800 | + |
| UGT1A1 | Crigler-Najjar syndrome, type II | | 191740 / 606785 | + |
| UGT1A1 | Gilbert syndrome | | 191740 / 143500 | + |
| UGT1A1 | Irinotecan toxicity | | 191740 / - | + |
| UNC13D | Hemophagocytic lymphohistiocytosis, familial, 3 | | 608897 / 608898 | - |
| UROD | Porphyria cutanea tarda | Hepatoerythropoietic porphyria / Porphyria cutanea tarda / | 613521 / 176100 | + |
| UROS | Porphyria, congenital erythropoietic | | 606938 / 263700 | - |
| VARS | Microcephaly and severe mental retardation | | 192150 / - | - |
| VHL | Von Hippel-Lindau syndrome | | 608537 / 193300 | + |
| VKORC1 | Coumarin sensitivity | | 608547 / 122700 | + |
| VPS13A | Choreoacanthocytosis | | 605978 / 200150 | + |
| VPS13B | Cohen syndrome | | 607817 / 216550 | - |
| VWF | Von Willebrand disease | | 613160 / 193400, 613554, 277480 | + |
| WAS | Wiskott-Aldrich syndrome | | 300392 / 301000 | - |
| WAS | Neutropenia, severe congenital, X-linked | | 300392 / 300299 | - |
| WAS | Thrombocytopenia, X-linked | | 300392 / 313900 | - |
| WDR19 | Cranioectodermal dysplasia 4 | | 608151 / 614378 | + |
| WDR81 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 | | 614218 / 610185 | - |
| WFS1 | Wolfram syndrome | | 606201 / 222300 | - |
| WFS1 | Wolfram-like syndrome, autosomal dominant | | 606201 / 614296 | - |
| WFS1 | Deafness, autosomal dominant 6/14/38 | | 606201 / 600965 | - |
| WNK1 | Neuropathy, hereditary sensory and autonomic, type II | HSAN2A / Neuropathy, hereditary sensory and autonomic, type II | 605232 / 201300 | - |
| WT1 | Denys-Drash syndrome | | 607102 / 194080 | - |
| WT1 | Frasier syndrome | | 607102 / 136680 | - |
| WT1 | Meacham syndrome | | 607102 / 608978 | - |
| WT1 | Nephrotic syndrome, type 4 | | 607102 / 256370 | - |
| WT1 | Wilms tumor, type 1 | Nephroblastoma / Wilms tumor, type 1 | 607102 / 194070 | - |
| ZC4H2 | Wieacker-Wolff syndrome | | 300897 / 314580 | - |
| ZEB2 | Mowat-Wilson syndrome | | 605802 / 235730 | + |
| ZFYVE26 | Spastic paraplegia 15, autosomal recessive | SPG15 / Spastic paraplegia 15, autosomal recessive / | 612012 / 270700 | + |
| ZFYVE27 | Spastic paraplegia 33 | SPG33 / Spastic paraplegia 33 | 610243 / 610244 | - |
| ZIC3 | Heterotaxy, visceral, 1, X-linked | | 300265 / 306955 | - |
| ZIC3 | Congenital heart defects, nonsyndromic, 1, X-linked | | 300265 / 306955 | - |
| (UBE3A) | Angelman syndrome | | 601623 / 105830 | - |
| (UBE3A) | Angelman syndrome | | 601623 / 105830 | - |
| (CDKN1C) | Beckwith-Wiedemann syndrome | | 600856 / 130650 | + |
| Prader-Willi syndrome | | - / 176270 | + |
| (AZF-Genregion) | Azoospermia | | 400005 / 415000 | + |
| DNAJB6 | Muscular dystrophy, limb-girdle, type 1E | | 611332 / 603511 | - |
| PROKR2 | Hypogonadotropic hypogonadism 3 with or without anosmia | | 607123 / 244200 | + |
| FGF20 | aplasia 2 | | 605558 / 615721 | - |
| SLC25A13 | Citrullinemia, adult-onset type II | | 603859 / 603471 | - |
| SLC25A13 | Citrullinemia, type II, neonatal-onset | | 603859 / 605814 | - |
| TMEM67 | COACH syndrome | | 609884 / 216360 | - |
| MODY10 | Diabetes mellitus, insulin-dependent, 2 | | 176730 / 125852 | - |
| MODY10 | Diabetes mellitus, permanent neonatal | | 176730 / 606176 | - |
| SOX3 | Mental retardation, X-linked, with isolated growth hormone deficiency | | 313430 / 300123 | - |
| EDAR | Ectodermal dysplasia 10A | | 604095 / 129490 | - |
| EDAR | Ectodermal dysplasia 10B | | 604095 / 224900 | - |
| EDARADD | Ectodermal dysplasia 11A | | 606603 / 614940 | - |
| EDARADD | Ectodermal dysplasia 11B | | 606603 / 614941 | - |
| FHL1 | Emery-Dreifuss muscular dystrophy 6, X-linked | | 300163 / 300696 | - |
| DNAJB6 | Muscular dystrophy, limb-girdle, type 1E | | 603511 / | - |
| MYOT | Limb-Girdle Muscular Dystrophy, Type 1A | | 159000 / | - |
| MODY10 | Hyperproinsulinemia | | 176730 / 616214 | - |
| GCM2 | Hypoparathyroidism | | 146200 / 617343 | - |
| GNRHR | Hypogonadotropic hypogonadism 7 without anosmia | | 138850 / 146110 | - |
| FOXP1 | Mental retardation with language impairment and with or without autistic features | | 605515 / 613670 | - |
| VANGL1 | Caudal regression syndrome | | 610132 / 600145 | - |
| VANGL1 | Caudal regression syndrome | | 610132 / 600145 | - |
| SLC35C1 | Congenital disorder of glycosylation, type IIc | | 605881 / 266265 | - |
| TMEM67 | Meckel syndrome 3 | | 609884 / 607361 | - |
| FMN2 | Mental retardation, autosomal recessive 47 | | 606373 / 606373 | - |
| IL2RG | Combined immunodeficiency, X-linked, moderate | | 308380 / 312863 | - |
| MSTN | Muscle hypertrophy | | 601788 / 614160 | - |
| EXOSC3 | Pontocerebellar hypoplasia, type 1B | | 606489 / 614678 | - |
| FGF20 | Renal hypodysplasia | | 605558 / 615721 | - |
| FGF20 | Renal hypodysplasia/aplasia 2 | | 605558 / 615721 | - |
| ITGA8 | Renal hypodysplasia/aplasia 1 | | 604063 / 191830 | - |
| IL2RG | Severe combined immunodeficiency, X-linked | | 308380 / 300400 | - |
| TMEM67 | Nephronophthisis 11 | | 609884 / 613550 | - |
| OXCT1 | Succinyl CoA:3-oxoacid CoA transferase deficiency | | / 601424 | - |
| MODY10 | Maturity-onset diabetes of the young, type 10 | | 176730 / 613370 | - |
| ABCB11 | Cholestase, benigne, intrahepatische, rerkurrente / Cholestase, intrahepatische, progressive, familiäre, Typ 2 | | 603201 / 605479 | - |