For Molecular Genetics and Molecular Pathology, we use a broad spectrum of techniques for mutational analysis. These include conventional methods such as Sanger sequencing, MLPA, and real-time PCR-based tumor mutation assays as well as state-of-the-art NGS-based gene panel and WES analysis.
Single Gene Diagnostics
Single-gene diagnostics is primarily used for examinationof monogenic diseases with known etiology. The following methods are routinely used for diagnostics in our laboratory:
- Sanger sequencing: targeted DNA sequence analysis of individual genes/exons/nucleotide positions (e.g. in the case of familial or common mutations)
The processing time is approx. 5 to 10 working days*. - MLPA(Multiplex Ligation-dependent Probe Amplification): Analysis for large duplications or deletions within a gene
The processing time is approx. 5 working days*. - Methylation-sensitive MLPA: Analysis of the methylation pattern (imprinting effects) within a specific gene region
The processing time is approx. 5 working days*. - Microsatellite Length Analysis: Detection of triplet-repeat diseases (also repeat-expansion diseases), eg by means of fragment length analysis or repeat-primed PCR assays
The processing time is approx. 5 to 10 working days*. - Real time PCR: Detection of sequence variants using special mutation assays (especially in tumor diseases EGFR, BRAF, NRAS, KRAS, MSI)
The processing time is approx. 5 working days*. - melting curve analysis: Detection of specific sequence variants, which cause a slight shift in the melting temperature compared to a homozygous wild-type control sequence
The processing time is approx. 5 working days*. - Visual fragment analysis: Detection (presence/absence) of certain fragments by means of gel electrophoresis after gene-specific PCR amplification
The processing time is approx. 5 working days*.
Gene panel diagnostics
Gene panel diagnostics is based on next generation sequencing (NGS) technology and is mainly used in cases of suspected heterogeneous disease (disease with multiple genetic etiologies). This method of high-throughput sequencing makes it possible to simultaneously sequence many genes and samples associated with a specific disease or phenotype of interest in one assay. Based on current knowledge and on our experience, we compile panels with all genes relevant for a particular disease and update and optimize these panels continuously. Additionally, for a given indication, we can customize gene panels according to the specifications of our clients. The processing time is approx. 10 to 20 working days*.
Note: The specification of a suspected diagnosis or a list of symptoms is an essential requirement for gene panel analysis and contributes significantly to arriving at or confirming the diagnosis.
Exome diagnostics
Exome diagnostics, or whole exome sequencing (WES), is also based on NGS technology. In contrast to gene panel diagnostics, WES is used to analyse the entire coding sequence of the human genome. This method is mainly applied for complex diseases (e.g. global developmental delay).
The processing time is approx. 10 to 20 working days*.
*The processing time may vary depending on the urgency of the submissions and the volume of samples.
Current list of services
| Gen | Disease / Syndrome | Additional Designations | OMIM Gene / Diesease | Accreditation |
|---|---|---|---|---|
| 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 | - |