Metabolic Disorders
Genetic testing can help uncover the cause of persistent, often debilitating, undiagnosed symptoms in patients suffering from suspected metabolic disorders. Our Bio/Databank contains extensive information on variants in over 1,250 metabolic -disease- related genes. Our extensive experience in metabolic diseases can help you diagnose and manage your patients’ metabolic disorder quickly and more precisely. Genetic testing can provide new insights into treatment options and predict the likelihood of passing the inherited condition onto children. It can also help identify other affected and non-affected family members.
CentoICU®
CentoICU® is a comprehensive NGS panel that includes genes explicitly selected for the genetic testing of critically ill newborns and children under 24 months in intensive care units (ICU). It is designed to address multiple genetic conditions that may be present in the newborn or early childhood period, with many having overlapping phenotypes and immediate implications for treatment initiation. It allows clinicians to utilize just one single test to provide an accurate diagnosis of newborn-related diseases using dried blood spots.
| No. of genes: | 856 |
|---|---|
| TAT: | 15 business days |
| Coverage: | ≥99.00% ≥20x |
| Gene | OMIM (Gene) | Associated diseases (OMIM) | Inheritance |
|---|---|---|---|
| AARS1 | 601065 | Trichothiodystrophy 8, nonphotosensitive | AR |
| Charcot-Marie-Tooth disease, axonal, type 2N | AD | ||
| Developmental and epileptic encephalopathy 29 | AR | ||
| ?Leukoencephalopathy, hereditary diffuse, with spheroids 2 | AD | ||
| AARS2 | 612035 | Combined oxidative phosphorylation deficiency 8 | AR |
| Leukoencephalopathy, progressive, with ovarian failure | AR | ||
| AASS | 605113 | Hyperlysinemia | AR |
| ABAT | 137150 | GABA-transaminase deficiency | AR |
| ABCA12 | 607800 | Ichthyosis, congenital, autosomal recessive 4A | AR |
| Ichthyosis, congenital, autosomal recessive 4B (harlequin) | AR | ||
| ABCA3 | 601615 | Surfactant metabolism dysfunction, pulmonary, 3 | AR |
| ABCB11 | 603201 | Cholestasis, benign recurrent intrahepatic, 2 | AR |
| Cholestasis, progressive familial intrahepatic 2 | AR | ||
| ABCC8 | 600509 | Diabetes mellitus, transient neonatal 2 | - |
| Diabetes mellitus, noninsulin-dependent | AD | ||
| Hyperinsulinemic hypoglycemia, familial, 1 | AD, AR | ||
| Hypoglycemia of infancy, leucine-sensitive | AD | ||
| Diabetes mellitus, permanent neonatal 3, with or without neurologic features | AD, AR | ||
| ABCD1 | 300371 | Adrenoleukodystrophy | XLR |
| Adrenomyeloneuropathy, adult | XLR | ||
| ABCD3 | 170995 | ?Bile acid synthesis defect, congenital, 5 | AR |
| ABCD4 | 603214 | Methylmalonic aciduria and homocystinuria, cblJ type | AR |
| ACAD8 | 604773 | Isobutyryl-CoA dehydrogenase deficiency | AR |
| ACAD9 | 611103 | Mitochondrial complex I deficiency, nuclear type 20 | AR |
| ACADM | 607008 | Acyl-CoA dehydrogenase, medium chain, deficiency of | AR |
| ACADS | 606885 | Acyl-CoA dehydrogenase, short-chain, deficiency of | AR |
| ACADSB | 600301 | 2-methylbutyrylglycinuria | AR |
| ACADVL | 609575 | VLCAD deficiency | AR |
| ACAT1 | 607809 | Alpha-methylacetoacetic aciduria | AR |
| ACO2 | 100850 | ?Optic atrophy 9 | AR |
| Infantile cerebellar-retinal degeneration | AR | ||
| ACOX1 | 609751 | Peroxisomal acyl-CoA oxidase deficiency | AR |
| Mitchell syndrome | AD | ||
| ACSF3 | 614245 | Combined malonic and methylmalonic aciduria | - |
| ACTA1 | 102610 | Nemaline myopathy 3, autosomal dominant or recessive | AD, AR |
| ?Myopathy, scapulohumeroperoneal | AD | ||
| Myopathy, congenital, with fiber-type disproportion 1 | AD, AR | ||
| Myopathy, actin, congenital, with cores | AD, AR | ||
| Myopathy, actin, congenital, with excess of thin myofilaments | AD, AR | ||
| ACY1 | 104620 | Aminoacylase 1 deficiency | AR |
| ADA | 608958 | Adenosine deaminase deficiency, partial | AR, Somatic mosaicism |
| Severe combined immunodeficiency due to ADA deficiency | AR, Somatic mosaicism | ||
| ADAMTS13 | 604134 | Thrombotic thrombocytopenic purpura, hereditary | AR |
| ADAMTSL2 | 612277 | Geleophysic dysplasia 1 | AR |
| ADAR | 146920 | Aicardi-Goutieres syndrome 6 | AR |
| Dyschromatosis symmetrica hereditaria | AD | ||
| ADK | 102750 | Hypermethioninemia due to adenosine kinase deficiency | AR |
| ADNP | 611386 | Helsmoortel-van der Aa syndrome | AD |
| ADSL | 608222 | Adenylosuccinase deficiency | AR |
| AGA | 613228 | Aspartylglucosaminuria | AR |
| AGK | 610345 | Sengers syndrome | AR |
| Cataract 38, autosomal recessive | AR | ||
| AGL | 610860 | Glycogen storage disease IIIb | AR |
| Glycogen storage disease IIIa | AR | ||
| AGPAT2 | 603100 | Lipodystrophy, congenital generalized, type 1 | AR |
| AGPS | 603051 | Rhizomelic chondrodysplasia punctata, type 3 | AR |
| AGRN | 103320 | Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects | AR |
| AGXT | 604285 | Hyperoxaluria, primary, type 1 | AR |
| AHCY | 180960 | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | AR |
| AICDA | 605257 | Immunodeficiency with hyper-IgM, type 2 | AR |
| AIFM1 | 300169 | Cowchock syndrome | XLR |
| Combined oxidative phosphorylation deficiency 6 | XLR | ||
| Deafness, X-linked 5 | XLR | ||
| Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy | XLR | ||
| AIMP1 | 603605 | Leukodystrophy, hypomyelinating, 3 | AR |
| AKAP9 | 604001 | ?Long QT syndrome 11 | AD |
| AKR1D1 | 604741 | Bile acid synthesis defect, congenital, 2 | AR |
| AKT2 | 164731 | Diabetes mellitus, type II | AD |
| Hypoinsulinemic hypoglycemia with hemihypertrophy | AD | ||
| ALAD | 125270 | Porphyria, acute hepatic | AR |
| Lead poisoning, susceptibility to | AR | ||
| ALAS2 | 301300 | Protoporphyria, erythropoietic, X-linked | XL |
| Anemia, sideroblastic, 1 | XLR | ||
| ALDH18A1 | 138250 | Cutis laxa, autosomal dominant 3 | AD |
| Cutis laxa, autosomal recessive, type IIIA | AR | ||
| Spastic paraplegia 9B, autosomal recessive | AR | ||
| Spastic paraplegia 9A, autosomal dominant | AD | ||
| ALDH3A2 | 609523 | Sjogren-Larsson syndrome | AR |
| ALDH4A1 | 606811 | Hyperprolinemia, type II | AR |
| ALDH5A1 | 610045 | Succinic semialdehyde dehydrogenase deficiency | AR |
| ALDH6A1 | 603178 | Methylmalonate semialdehyde dehydrogenase deficiency | AR |
| ALDH7A1 | 107323 | Epilepsy, pyridoxine-dependent | AR |
| ALDOA | 103850 | Glycogen storage disease XII | AR |
| ALDOB | 612724 | Fructose intolerance, hereditary | AR |
| ALG1 | 605907 | Congenital disorder of glycosylation, type Ik | AR |
| ALG11 | 613666 | Congenital disorder of glycosylation, type Ip | AR |
| ALG12 | 607144 | Congenital disorder of glycosylation, type Ig | AR |
| ALG13 | 300776 | ?Congenital disorder of glycosylation, type Is | XL |
| Developmental and epileptic encephalopathy 36 | XL | ||
| ALG14 | 612866 | Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies | AR |
| ?Myasthenic syndrome, congenital, 15, without tubular aggregates | AR | ||
| Myopathy, epilepsy, and progressive cerebral atrophy | AR | ||
| ALG2 | 607905 | ?Congenital disorder of glycosylation, type Ii | AR |
| Myasthenic syndrome, congenital, 14, with tubular aggregates | AR | ||
| ALG3 | 608750 | Congenital disorder of glycosylation, type Id | AR |
| ALG6 | 604566 | Congenital disorder of glycosylation, type Ic | AR |
| ALG8 | - | Polycystic liver disease 3 with or without kidney cysts | AD |
| Congenital disorder of glycosylation, type Ih | AR | ||
| ALG9 | 606941 | Congenital disorder of glycosylation, type Il | AR |
| Gillessen-Kaesbach-Nishimura syndrome | AR | ||
| ALOX12B | 603741 | Ichthyosis, congenital, autosomal recessive 2 | AR |
| ALOXE3 | 607206 | Ichthyosis, congenital, autosomal recessive 3 | AR |
| ALPL | 171760 | Hypophosphatasia, infantile | AR |
| Odontohypophosphatasia | AD, AR | ||
| Hypophosphatasia, childhood | AR | ||
| Hypophosphatasia, adult | AD, AR | ||
| ALS2 | 606352 | Amyotrophic lateral sclerosis 2, juvenile | AR |
| Spastic paralysis, infantile onset ascending | AR | ||
| Primary lateral sclerosis, juvenile | AR | ||
| AMACR | 604489 | Bile acid synthesis defect, congenital, 4 | AR |
| Alpha-methylacyl-CoA racemase deficiency | AR | ||
| AMN | 605799 | Imerslund-Grasbeck syndrome 2 | AR |
| AMPD1 | 102770 | Myopathy due to myoadenylate deaminase deficiency | AR |
| AMT | 238310 | Glycine encephalopathy | AR |
| ANK1 | 612641 | Spherocytosis, type 1 | AD, AR |
| ANKRD26 | 610855 | Thrombocytopenia 2 | AD |
| ANKS6 | 615370 | Nephronophthisis 16 | AR |
| ANTXR1 | 606410 | ?Hemangioma, capillary infantile, susceptibility to | AD |
| GAPO syndrome | AR | ||
| ANTXR2 | - | Hyaline fibromatosis syndrome | AR |
| AP2S1 | 602242 | Hypocalciuric hypercalcemia, type III | AD |
| AP4B1 | 607245 | Spastic paraplegia 47, autosomal recessive | AR |
| AP4E1 | 607244 | Stuttering, familial persistent, 1 | AD |
| Spastic paraplegia 51, autosomal recessive | AR | ||
| AP4M1 | 602296 | Spastic paraplegia 50, autosomal recessive | AR |
| AP4S1 | 607243 | Spastic paraplegia 52, autosomal recessive | AR |
| APOB | 107730 | Hypobetalipoproteinemia | AR |
| Hypercholesterolemia, familial, 2 | AD | ||
| APTX | 606350 | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | AR |
| ARG1 | 608313 | Argininemia | AR |
| ARL6 | 608845 | Retinitis pigmentosa 55 | AR |
| Bardet-Biedl syndrome 1, modifier of | AR, DR | ||
| Bardet-Biedl syndrome 3 | AR | ||
| ARSA | 607574 | Metachromatic leukodystrophy | AR |
| ARSB | 611542 | Mucopolysaccharidosis type VI (Maroteaux-Lamy) | AR |
| ARX | 300382 | Developmental and epileptic encephalopathy 1 | XLR |
| Mental retardation, X-linked 29 and others | XLR | ||
| Hydranencephaly with abnormal genitalia | XL | ||
| Partington syndrome | XLR | ||
| Lissencephaly, X-linked 2 | XL | ||
| Proud syndrome | XL | ||
| ASAH1 | 613468 | Spinal muscular atrophy with progressive myoclonic epilepsy | AR |
| Farber lipogranulomatosis | AR | ||
| ASL | 608310 | Argininosuccinic aciduria | AR |
| ASNS | 108370 | Asparagine synthetase deficiency | AR |
| ASPA | 608034 | Canavan disease | AR |
| ASPM | 605481 | Microcephaly 5, primary, autosomal recessive | AR |
| ASS1 | 603470 | Citrullinemia | AR |
| ATIC | 601731 | AICA-ribosiduria due to ATIC deficiency | AR |
| ATP1A3 | 182350 | Alternating hemiplegia of childhood 2 | AD |
| Dystonia-12 | AD | ||
| Developmental and epileptic encephalopathy 99 | AD | ||
| CAPOS syndrome | AD | ||
| ATP6V0A2 | 611716 | Cutis laxa, autosomal recessive, type IIA | AR |
| Wrinkly skin syndrome | AR | ||
| ATP6V1B1 | 192132 | Distal renal tubular acidosis 2 with progressive sensorineural hearing loss | AR |
| ATP7A | 300011 | Menkes disease | XLR |
| Occipital horn syndrome | XLR | ||
| Spinal muscular atrophy, distal, X-linked 3 | XLR | ||
| ATP7B | 606882 | Wilson disease | AR |
| ATP8B1 | 602397 | Cholestasis, progressive familial intrahepatic 1 | AR |
| Cholestasis, intrahepatic, of pregnancy, 1 | AD | ||
| Cholestasis, benign recurrent intrahepatic | AR | ||
| ATPAF2 | 608918 | ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 | AR |
| ATR | 601215 | ?Cutaneous telangiectasia and cancer syndrome, familial | AD |
| Seckel syndrome 1 | AR | ||
| ATRX | 300032 | Mental retardation-hypotonic facies syndrome, X-linked | XLR |
| Alpha-thalassemia/mental retardation syndrome | XLD | ||
| Alpha-thalassemia myelodysplasia syndrome, somatic | - | ||
| AUH | 600529 | 3-methylglutaconic aciduria, type I | AR |
| B3GLCT | 610308 | Peters-plus syndrome | AR |
| B4GALT1 | 137060 | Congenital disorder of glycosylation, type IId | AR |
| BCAP31 | 300398 | Deafness, dystonia, and cerebral hypomyelination | XLR |
| BCKDHA | 608348 | Maple syrup urine disease, type Ia | AR |
| BCKDHB | 248611 | Maple syrup urine disease, type Ib | AR |
| BCKDK | 614901 | Branched-chain ketoacid dehydrogenase kinase deficiency | - |
| BCS1L | 603647 | GRACILE syndrome | AR |
| Bjornstad syndrome | AR | ||
| Mitochondrial complex III deficiency, nuclear type 1 | AR | ||
| BICD2 | 609797 | Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant | AD |
| Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant | AD | ||
| BIN1 | 601248 | Centronuclear myopathy 2 | AR |
| BLNK | 604515 | ?Agammaglobulinemia 4 | AR |
| BOLA3 | 613183 | Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia | AR |
| BRAF | 164757 | Cardiofaciocutaneous syndrome | AD |
| Adenocarcinoma of lung, somatic | - | ||
| Noonan syndrome 7 | AD | ||
| Colorectal cancer, somatic | - | ||
| Melanoma, malignant, somatic, | - | ||
| LEOPARD syndrome 3 | AD | ||
| BRAT1 | 614506 | Neurodevelopmental disorder with cerebellar atrophy and with or without seizures | AR |
| Rigidity and multifocal seizure syndrome, lethal neonatal | AR | ||
| BRCA2 | 600185 | Prostate cancer | AD, SM |
| Breast-ovarian cancer, familial, 2 | AD | ||
| Glioblastoma 3 | AR | ||
| Wilms tumor | AD, SM | ||
| Pancreatic cancer 2 | - | ||
| Breast cancer, male, susceptibility to | AD, SM | ||
| Fanconi anemia, complementation group D1 | AR | ||
| Medulloblastoma | AD, AR, SM | ||
| BSCL2 | 606158 | Lipodystrophy, congenital generalized, type 2 | AR |
| Encephalopathy, progressive, with or without lipodystrophy | AR | ||
| Silver spastic paraplegia syndrome | AD | ||
| Neuropathy, distal hereditary motor, type VC | AD | ||
| BSND | 606412 | Bartter syndrome, type 4a | AR |
| Sensorineural deafness with mild renal dysfunction | AR | ||
| BTD | 609019 | Biotinidase deficiency | AR |
| BTK | 300300 | Agammaglobulinemia, X-linked 1 | XLR |
| Isolated growth hormone deficiency, type III, with agammaglobulinemia | XLR | ||
| CA12 | 603263 | Hyperchlorhidrosis, isolated | AR |
| CACNA1C | 114205 | Long QT syndrome 8 | AD |
| Brugada syndrome 3 | - | ||
| Timothy syndrome | AD | ||
| Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures | - | ||
| CACNB2 | 600003 | Brugada syndrome 4 | - |
| CALM1 | 114180 | Long QT syndrome 14 | AD |
| Ventricular tachycardia, catecholaminergic polymorphic, 4 | AD | ||
| CAMTA1 | 611501 | Cerebellar ataxia, nonprogressive, with mental retardation | AD |
| CASK | 300172 | Mental retardation, with or without nystagmus | - |
| Mental retardation and microcephaly with pontine and cerebellar hypoplasia | XLD | ||
| FG syndrome 4 | - | ||
| CASR | 601199 | Epilepsy idiopathic generalized, susceptibility to, 8 | - |
| Hypocalcemia, autosomal dominant, with Bartter syndrome | AD | ||
| Hypocalciuric hypercalcemia, type I | AD | ||
| Hyperparathyroidism, neonatal | AD, AR | ||
| Hypocalcemia, autosomal dominant | AD | ||
| CAST | 114090 | Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads | AR |
| CAV1 | 601047 | Pulmonary hypertension, primary, 3 | AD |
| Lipodystrophy, familial partial, type 7 | AD | ||
| ?Lipodystrophy, congenital generalized, type 3 | AR | ||
| CAV3 | 601253 | Rippling muscle disease 2 | AD |
| Cardiomyopathy, familial hypertrophic | AD, DD | ||
| Creatine phosphokinase, elevated serum | AD | ||
| Long QT syndrome 9 | AD | ||
| Myopathy, distal, Tateyama type | AD | ||
| CAVIN1 | 603198 | Lipodystrophy, congenital generalized, type 4 | AR |
| CBS | 613381 | Thrombosis, hyperhomocysteinemic | AR |
| Homocystinuria, B6-responsive and nonresponsive types | AR | ||
| CCDC103 | 614677 | Ciliary dyskinesia, primary, 17 | AR |
| CCDC78 | 614666 | ?Centronuclear myopathy 4 | AD |
| CD19 | 107265 | Immunodeficiency, common variable, 3 | AR |
| CD247 | 186780 | ?Immunodeficiency 25 | AR |
| CD320 | 606475 | Methylmalonic aciduria, transient, due to transcobalamin receptor defect | AR |
| CD3D | 186790 | Immunodeficiency 19 | AR |
| CD3E | 186830 | Immunodeficiency 18, SCID variant | AR |
| Immunodeficiency 18 | AR | ||
| CD3G | 186740 | Immunodeficiency 17, CD3 gamma deficient | AR |
| CD40 | 109535 | Immunodeficiency with hyper-IgM, type 3 | AR |
| CD40LG | 300386 | Immunodeficiency, X-linked, with hyper-IgM | XLR |
| CD59 | 107271 | Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy | AR |
| CD79A | 112205 | Agammaglobulinemia 3 | AR |
| CD79B | 147245 | Agammaglobulinemia 6 | AR |
| CD81 | 186845 | Immunodeficiency, common variable, 6 | AR |
| CD96 | 606037 | C syndrome | AD |
| CDAN1 | 607465 | Dyserythropoietic anemia, congenital, type Ia | AR |
| CDK5RAP2 | 608201 | Microcephaly 3, primary, autosomal recessive | AR |
| CDKL5 | 300203 | Developmental and epileptic encephalopathy 2 | XLD |
| CDKN1C | 600856 | IMAGE syndrome | AD |
| Beckwith-Wiedemann syndrome | AD | ||
| CENPJ | 609279 | ?Seckel syndrome 4 | AR |
| Microcephaly 6, primary, autosomal recessive | AR | ||
| CEP152 | 613529 | Microcephaly 9, primary, autosomal recessive | AR |
| Seckel syndrome 5 | AR | ||
| CEP290 | 610142 | Leber congenital amaurosis 10 | - |
| Meckel syndrome 4 | AR | ||
| ?Bardet-Biedl syndrome 14 | AR | ||
| Senior-Loken syndrome 6 | AR | ||
| Joubert syndrome 5 | AR | ||
| CERS3 | 615276 | Ichthyosis, congenital, autosomal recessive 9 | AR |
| CFAP298 | 615494 | Ciliary dyskinesia, primary, 26 | AR |
| CFH | 134370 | Basal laminar drusen | AD |
| Macular degeneration, age-related, 4 | - | ||
| Hemolytic uremic syndrome, atypical, susceptibility to, 1 | AD, AR | ||
| Complement factor H deficiency | AD, AR | ||
| CFHR3 | 605336 | Macular degeneration, age-related, reduced risk of | AD |
| Hemolytic uremic syndrome, atypical, susceptibility to | AD, AR | ||
| CFL2 | - | Nemaline myopathy 7, autosomal recessive | AR |
| CFTR | 602421 | Congenital bilateral absence of vas deferens | AR |
| Pancreatitis, hereditary | AD | ||
| Bronchiectasis with or without elevated sweat chloride 1, modifier of | AD | ||
| Cystic fibrosis | AR | ||
| CHAT | 118490 | Myasthenic syndrome, congenital, 6, presynaptic | AR |
| CHD7 | 608892 | CHARGE syndrome | AD |
| Hypogonadotropic hypogonadism 5 with or without anosmia | AD | ||
| CHKB | 612395 | Muscular dystrophy, congenital, megaconial type | AR |
| CHM | 300390 | Choroideremia | XL |
| CHRNA1 | 100690 | Myasthenic syndrome, congenital, 1B, fast-channel | AD, AR |
| Myasthenic syndrome, congenital, 1A, slow-channel | AD | ||
| Multiple pterygium syndrome, lethal type | AR | ||
| CHRNB1 | 100710 | Myasthenic syndrome, congenital, 2A, slow-channel | AD |
| ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency | AR | ||
| CHRND | 100720 | ?Myasthenic syndrome, congenital, 3A, slow-channel | AD |
| Myasthenic syndrome, congenital, 3B, fast-channel | AR | ||
| Multiple pterygium syndrome, lethal type | AR | ||
| ?Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency | AR | ||
| CHRNE | 100725 | Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency | AR |
| Myasthenic syndrome, congenital, 4A, slow-channel | AD, AR | ||
| Myasthenic syndrome, congenital, 4B, fast-channel | AR | ||
| CLCN1 | 118425 | Myotonia congenita, dominant | AD |
| Myotonia congenita, recessive | AR | ||
| CLCNKA | 602024 | Bartter syndrome, type 4b, digenic | DR |
| CLCNKB | 602023 | Bartter syndrome, type 3 | AR |
| Bartter syndrome, type 4b, digenic | DR | ||
| CLDN16 | 603959 | Hypomagnesemia 3, renal | AR |
| CLN3 | 607042 | Ceroid lipofuscinosis, neuronal, 3 | AR |
| CLN5 | - | Ceroid lipofuscinosis, neuronal, 5 | AR |
| CLN6 | 606725 | Ceroid lipofuscinosis, neuronal, Kufs type, adult onset | AR |
| Ceroid lipofuscinosis, neuronal, 6 | AR | ||
| CLN8 | 607837 | Ceroid lipofuscinosis, neuronal, 8 | AR |
| Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant | AR | ||
| CLPB | 616254 | 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia | AR |
| 3-methylglutaconic aciduria, type VIIA, autosomal dominant | AD | ||
| Neutropenia, severe congenital, 9, autosomal dominant | AD | ||
| CNTN1 | 600016 | ?Myopathy, congenital, Compton-North | AR |
| COA5 | 613920 | ?Mitochondrial complex IV, deficiency, nuclear type 9 | AR |
| COG1 | 606973 | Congenital disorder of glycosylation, type IIg | AR |
| COG6 | 606977 | Shaheen syndrome | AR |
| Congenital disorder of glycosylation, type IIl | AR | ||
| COG7 | 606978 | Congenital disorder of glycosylation, type IIe | AR |
| COL11A1 | 120280 | Marshall syndrome | AD |
| Fibrochondrogenesis 1 | AR | ||
| Lumbar disc herniation, susceptibility to | - | ||
| ?Deafness, autosomal dominant 37 | AD | ||
| Stickler syndrome, type II | AD | ||
| COL17A1 | 113811 | Epithelial recurrent erosion dystrophy | AD |
| Epidermolysis bullosa, junctional, localisata variant | AR | ||
| Epidermolysis bullosa, junctional, non-Herlitz type | AR | ||
| Epidermolysis bullosa, junctional 4, intermediate | - | ||
| COL1A1 | 120150 | Ehlers-Danlos syndrome, arthrochalasia type, 1 | AD |
| Bone mineral density variation QTL, osteoporosis | AD | ||
| Osteogenesis imperfecta, type III | AD | ||
| Osteogenesis imperfecta, type I | AD | ||
| Caffey disease | AD | ||
| Osteogenesis imperfecta, type IV | AD | ||
| Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 | AD | ||
| Osteogenesis imperfecta, type II | AD | ||
| COL1A2 | 120160 | Osteoporosis, postmenopausal | AD |
| Ehlers-Danlos syndrome, cardiac valvular type | AR | ||
| Ehlers-Danlos syndrome, arthrochalasia type, 2 | AD | ||
| Osteogenesis imperfecta, type III | AD | ||
| Osteogenesis imperfecta, type IV | AD | ||
| Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 | AD | ||
| Osteogenesis imperfecta, type II | AD | ||
| COL2A1 | 120140 | Legg-Calve-Perthes disease | AD |
| Stickler syndrome, type I | AD | ||
| Osteoarthritis with mild chondrodysplasia | AD | ||
| Platyspondylic skeletal dysplasia, Torrance type | AD | ||
| Spondyloepiphyseal dysplasia, Stanescu type | AD | ||
| Kniest dysplasia | AD | ||
| Czech dysplasia | AD | ||
| Stickler sydrome, type I, nonsyndromic ocular | AD | ||
| ?Vitreoretinopathy with phalangeal epiphyseal dysplasia | AD | ||
| ?Epiphyseal dysplasia, multiple, with myopia and deafness | AD | ||
| Avascular necrosis of the femoral head | AD | ||
| Spondyloperipheral dysplasia | AD | ||
| Achondrogenesis, type II or hypochondrogenesis | AD | ||
| SMED Strudwick type | AD | ||
| SED congenita | AD | ||
| COL3A1 | 120180 | Ehlers-Danlos syndrome, vascular type | AD |
| Polymicrogyria with or without vascular-type EDS | AR | ||
| COL5A2 | 120190 | Ehlers-Danlos syndrome, classic type, 2 | AD |
| COL6A1 | 120220 | Bethlem myopathy 1 | AD, AR |
| Ullrich congenital muscular dystrophy 1 | AD, AR | ||
| COL6A2 | 120240 | Bethlem myopathy 1 | AD, AR |
| Ullrich congenital muscular dystrophy 1 | AD, AR | ||
| ?Myosclerosis, congenital | AR | ||
| COL6A3 | 120250 | Dystonia 27 | AR |
| Ullrich congenital muscular dystrophy 1 | AD, AR | ||
| Bethlem myopathy 1 | AD, AR | ||
| COL7A1 | 120120 | Epidermolysis bullosa dystrophica, AR | AR |
| Epidermolysis bullosa dystrophica, AD | AD | ||
| Epidermolysis bullosa pruriginosa | AD, AR | ||
| Transient bullous of the newborn | AD, AR | ||
| Epidermolysis bullosa, pretibial | AD, AR | ||
| Toenail dystrophy, isolated | AD | ||
| EBD, Bart type | AD | ||
| EBD inversa | AR | ||
| COLQ | 603033 | Myasthenic syndrome, congenital, 5 | AR |
| COMP | 600310 | Carpal tunnel syndrome 2 | AD |
| Epiphyseal dysplasia, multiple, 1 | AD | ||
| Pseudoachondroplasia | AD | ||
| COQ2 | 609825 | Coenzyme Q10 deficiency, primary, 1 | AR |
| Multiple system atrophy, susceptibility to | AD, AR | ||
| COQ8A | 606980 | Coenzyme Q10 deficiency, primary, 4 | AR |
| COQ9 | 612837 | Coenzyme Q10 deficiency, primary, 5 | AR |
| CORO1A | 605000 | Immunodeficiency 8 | AR |
| COX10 | 602125 | Mitochondrial complex IV deficiency, nuclear type 3 | AR |
| COX15 | 603646 | Mitochondrial complex IV deficiency, nuclear type 6 | AR |
| COX20 | 614698 | Mitochondrial complex IV deficiency, nuclear type 11 | AR |
| COX6B1 | 124089 | Mitochondrial complex IV deficiency, nuclear type 7 | AR |
| CPS1 | 608307 | Carbamoylphosphate synthetase I deficiency | AR |
| Pulmonary hypertension, neonatal, susceptibility to | - | ||
| CPT1A | 600528 | CPT deficiency, hepatic, type IA | AR |
| CPT2 | 600650 | CPT II deficiency, myopathic, stress-induced | AD, AR |
| CPT II deficiency, infantile | AR | ||
| Encephalopathy, acute, infection-induced, 4, susceptibility to | AD, AR | ||
| CPT II deficiency, lethal neonatal | AR | ||
| CR2 | 120650 | Immunodeficiency, common variable, 7 | AR |
| Systemic lupus erythematosus, susceptibility to, 9 | - | ||
| CRPPA | 614631 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 | AR |
| Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 | AR | ||
| CRTAP | 605497 | Osteogenesis imperfecta, type VII | AR |
| CTNS | 606272 | Cystinosis, late-onset juvenile or adolescent nephropathic | AR |
| Cystinosis, ocular nonnephropathic | AR | ||
| Cystinosis, nephropathic | AR | ||
| Cystinosis, atypical nephropathic | AR | ||
| CTPS1 | 123860 | Immunodeficiency 24 | AR |
| CTSA | 613111 | Galactosialidosis | AR |
| CTSD | 116840 | Ceroid lipofuscinosis, neuronal, 10 | AR |
| CUL4B | 300304 | Mental retardation, X-linked, syndromic 15 (Cabezas type) | XLR |
| CXCR4 | 162643 | WHIM syndrome | AD |
| CYP11B1 | 610613 | Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency | AR |
| Aldosteronism, glucocorticoid-remediable | AD | ||
| CYP11B2 | 124080 | Hypoaldosteronism, congenital, due to CMO II deficiency | AR |
| Hypoaldosteronism, congenital, due to CMO I deficiency | AR | ||
| CYP17A1 | 609300 | 17, 20-lyase deficiency, isolated | AR |
| 17-alpha-hydroxylase/17, 20-lyase deficiency | AR | ||
| CYP4F22 | 611495 | Ichthyosis, congenital, autosomal recessive 5 | AR |
| CYP7B1 | 603711 | Spastic paraplegia 5A, autosomal recessive | AR |
| Bile acid synthesis defect, congenital, 3 | AR | ||
| D2HGDH | 609186 | D-2-hydroxyglutaric aciduria | AR |
| DBT | 248610 | Maple syrup urine disease, type II | AR |
| DCLRE1C | 605988 | Omenn syndrome | AR |
| Severe combined immunodeficiency, Athabascan type | AR | ||
| DDC | 107930 | Aromatic L-amino acid decarboxylase deficiency | AR |
| DDOST | 602202 | ?Congenital disorder of glycosylation, type Ir | AR |
| DDR2 | 191311 | Spondylometaepiphyseal dysplasia, short limb-hand type | AR |
| Warburg-Cinotti syndrome | AD | ||
| DEPDC5 | 614191 | Epilepsy, familial focal, with variable foci 1 | AD |
| DES | 125660 | Cardiomyopathy, dilated, 1I | AD |
| Myopathy, myofibrillar, 1 | AD, AR | ||
| Scapuloperoneal syndrome, neurogenic, Kaeser type | AD | ||
| DGUOK | - | Portal hypertension, noncirrhotic | AR |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 | AR | ||
| Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | AR | ||
| DHCR24 | 606418 | Desmosterolosis | AR |
| DHCR7 | 602858 | Smith-Lemli-Opitz syndrome | AR |
| DIAPH1 | 602121 | Seizures, cortical blindness, microcephaly syndrome | AR |
| Deafness, autosomal dominant 1, with or without thrombocytopenia | AD | ||
| DLAT | 608770 | Pyruvate dehydrogenase E2 deficiency | AR |
| DLD | 238331 | Dihydrolipoamide dehydrogenase deficiency | AR |
| DMD | 300377 | Cardiomyopathy, dilated, 3B | XL |
| Duchenne muscular dystrophy | XLR | ||
| Becker muscular dystrophy | XLR | ||
| DNA2 | 601810 | ?Seckel syndrome 8 | AR |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 | AD | ||
| DNAH11 | 603339 | Ciliary dyskinesia, primary, 7, with or without situs inversus | AR |
| DNAH5 | 603335 | Ciliary dyskinesia, primary, 3, with or without situs inversus | AR |
| DNAI1 | 604366 | Ciliary dyskinesia, primary, 1, with or without situs inversus | AR |
| DNAI2 | 605483 | Ciliary dyskinesia, primary, 9, with or without situs inversus | AR |
| DNAJC19 | 608977 | 3-methylglutaconic aciduria, type V | AR |
| DNM2 | 602378 | Lethal congenital contracture syndrome 5 | AR |
| Charcot-Marie-Tooth disease, axonal type 2M | AD | ||
| Charcot-Marie-Tooth disease, dominant intermediate B | AD | ||
| Centronuclear myopathy 1 | AD | ||
| DOCK7 | 615730 | Developmental and epileptic encephalopathy 23 | AR |
| DOCK8 | 611432 | Hyper-IgE recurrent infection syndrome, autosomal recessive | AR |
| DOK7 | 610285 | Fetal akinesia deformation sequence 3 | AR |
| Myasthenic syndrome, congenital, 10 | AR | ||
| DOLK | 610746 | Congenital disorder of glycosylation, type Im | AR |
| DPAGT1 | 191350 | Myasthenic syndrome, congenital, 13, with tubular aggregates | AR |
| Congenital disorder of glycosylation, type Ij | AR | ||
| DPM2 | 603564 | Congenital disorder of glycosylation, type Iu | AR |
| DPYD | 612779 | 5-fluorouracil toxicity | AR |
| Dihydropyrimidine dehydrogenase deficiency | AR | ||
| DRC1 | 615288 | Ciliary dyskinesia, primary, 21 | AR |
| DSP | 125647 | Cardiomyopathy, dilated, with woolly hair and keratoderma | AR |
| Arrhythmogenic right ventricular dysplasia 8 | AD | ||
| Keratosis palmoplantaris striata II | AD | ||
| Skin fragility-woolly hair syndrome | AR | ||
| Epidermolysis bullosa, lethal acantholytic | AR | ||
| Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis | AD | ||
| DST | 113810 | ?Neuropathy, hereditary sensory and autonomic, type VI | AR |
| Epidermolysis bullosa simplex, autosomal recessive 2 | AR | ||
| DUOX2 | 606759 | Thyroid dyshormonogenesis 6 | AR |
| DUOXA2 | 612772 | Thyroid dyshormonogenesis 5 | AR |
| DYSF | 603009 | Muscular dystrophy, limb-girdle, autosomal recessive 2 | AR |
| Myopathy, distal, with anterior tibial onset | AR | ||
| Miyoshi muscular dystrophy 1 | AR | ||
| EDN3 | 131242 | Waardenburg syndrome, type 4B | AD, AR |
| Hirschsprung disease, susceptibility to, 4 | AD | ||
| Central hypoventilation syndrome, congenital | AD | ||
| EEF1A2 | 602959 | Mental retardation, autosomal dominant 38 | AD |
| Developmental and epileptic encephalopathy 33 | AD | ||
| EGR2 | 129010 | Dejerine-Sottas disease | AD, AR |
| Hypomyelinating neuropathy, congenital, 1 | AD, AR | ||
| Charcot-Marie-Tooth disease, type 1D | AD | ||
| EIF2AK3 | 604032 | Wolcott-Rallison syndrome | AR |
| EIF2B1 | 606686 | Leukoencephalopathy with vanishing white matter | AR |
| EIF2B2 | 606454 | Ovarioleukodystrophy | AR |
| Leukoencephalopathy with vanishing white matter | AR | ||
| EIF2B3 | 606273 | Leukoencephalopathy with vanishing white matter | AR |
| EIF2B4 | 606687 | Ovarioleukodystrophy | AR |
| Leukoencephalopathy with vanishing white matter | AR | ||
| EIF2B5 | 603945 | Ovarioleukodystrophy | AR |
| Leukoencephalopathy with vanishing white matter | AR | ||
| ELAC2 | 605367 | Prostate cancer, hereditary, 2, susceptibility to | - |
| Combined oxidative phosphorylation deficiency 17 | AR | ||
| ELANE | 130130 | Neutropenia, cyclic | AD |
| Neutropenia, severe congenital 1, autosomal dominant | AD | ||
| ENPP1 | 173335 | Arterial calcification, generalized, of infancy, 1 | AR |
| Obesity, susceptibility to | AD, AR, MF | ||
| Hypophosphatemic rickets, autosomal recessive, 2 | AR | ||
| Cole disease | AD | ||
| Diabetes mellitus, non-insulin-dependent, susceptibility to | AD | ||
| EPB42 | 177070 | Spherocytosis, type 5 | - |
| EPCAM | 185535 | Colorectal cancer, hereditary nonpolyposis, type 8 | AD |
| Diarrhea 5, with tufting enteropathy, congenital | AR | ||
| ETFA | - | Glutaric acidemia IIA | AR |
| ETFB | 130410 | Glutaric acidemia IIB | AR |
| ETFDH | 231675 | Glutaric acidemia IIC | AR |
| ETHE1 | 608451 | Ethylmalonic encephalopathy | AR |
| EVC | 604831 | Ellis-van Creveld syndrome | AR |
| ?Weyers acrofacial dysostosis | AD | ||
| EVC2 | 607261 | Ellis-van Creveld syndrome | AR |
| Weyers acrofacial dysostosis | AD | ||
| EXOSC3 | 606489 | Pontocerebellar hypoplasia, type 1B | AR |
| EYA1 | 601653 | Anterior segment anomalies with or without cataract | AD |
| Branchiootorenal syndrome 1, with or without cataracts | AD | ||
| ?Otofaciocervical syndrome | AD | ||
| Branchiootic syndrome 1 | AD | ||
| EYA4 | 603550 | Deafness, autosomal dominant 10 | AD |
| ?Cardiomyopathy, dilated, 1J | AD | ||
| F10 | 613872 | Factor X deficiency | AR |
| F11 | 264900 | Factor XI deficiency, autosomal dominant | - |
| Factor XI deficiency, autosomal recessive | - | ||
| F13A1 | 134570 | Factor XIIIA deficiency | AR |
| Venous thrombosis, protection against | AD | ||
| Myocardial infarction, protection against | - | ||
| F2 | 176930 | Dysprothrombinemia | AR |
| Stroke, ischemic, susceptibility to | MF | ||
| Pregnancy loss, recurrent, susceptibility to, 2 | AD | ||
| Hypoprothrombinemia | AR | ||
| Thrombophilia due to thrombin defect | AD | ||
| F5 | 612309 | Pregnancy loss, recurrent, susceptibility to, 1 | AD |
| Factor V deficiency | AR | ||
| Stroke, ischemic, susceptibility to | MF | ||
| Budd-Chiari syndrome | AR | ||
| Thrombophilia, susceptibility to, due to factor V Leiden | AD | ||
| Thrombophilia due to activated protein C resistance | AD | ||
| F7 | 613878 | Myocardial infarction, decreased susceptibility to | - |
| Factor VII deficiency | AR | ||
| F8 | 300841 | Thrombophilia 13, X-linked, due to factor VIII defect | - |
| Hemophilia A | XLR | ||
| F9 | 300746 | Warfarin sensitivity | XL |
| Thrombophilia, X-linked, due to factor IX defect | XLR | ||
| Hemophilia B | XLR | ||
| Deep venous thrombosis, protection against | XLR | ||
| FADD | 602457 | Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations | AR |
| FAH | 613871 | Tyrosinemia, type I | AR |
| FANCA | 607139 | Fanconi anemia, complementation group A | AR |
| FANCB | - | Fanconi anemia, complementation group B | XLR |
| FANCC | 613899 | Fanconi anemia, complementation group C | AR |
| FANCD2 | 613984 | Fanconi anemia, complementation group D2 | AR |
| FANCL | - | Fanconi anemia, complementation group L | AR |
| FARS2 | 611592 | Combined oxidative phosphorylation deficiency 14 | AR |
| Spastic paraplegia 77, autosomal recessive | AR | ||
| FASTKD2 | 612322 | Combined oxidative phosphorylation deficiency 44 | AR |
| FBN1 | 134797 | Marfan lipodystrophy syndrome | AD |
| Geleophysic dysplasia 2 | AD | ||
| Acromicric dysplasia | AD | ||
| Marfan syndrome | AD | ||
| Weill-Marchesani syndrome 2, dominant | AD | ||
| Stiff skin syndrome | AD | ||
| MASS syndrome | AD | ||
| Ectopia lentis, familial | AD | ||
| FBP1 | 611570 | Fructose-1, 6-bisphosphatase deficiency | AR |
| FBXL4 | 605654 | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) | AR |
| FGA | 134820 | Hypodysfibrinogenemia, congenital | - |
| Afibrinogenemia, congenital | AR | ||
| Amyloidosis, familial visceral | AD | ||
| Dysfibrinogenemia, congenital | - | ||
| FGB | 134830 | Afibrinogenemia, congenital | AR |
| Dysfibrinogenemia, congenital | - | ||
| Hypofibrinogenemia, congenital | AR | ||
| FGFR2 | 176943 | Crouzon syndrome | AD |
| Saethre-Chotzen syndrome | AD | ||
| Craniofacial-skeletal-dermatologic dysplasia | AD | ||
| Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis | AD | ||
| Gastric cancer, somatic | - | ||
| LADD syndrome | AD | ||
| Beare-Stevenson cutis gyrata syndrome | AD | ||
| Scaphocephaly, maxillary retrusion, and mental retardation | - | ||
| Apert syndrome | AD | ||
| Bent bone dysplasia syndrome | AD | ||
| Pfeiffer syndrome | AD | ||
| Jackson-Weiss syndrome | AD | ||
| FGFR3 | 134934 | Achondroplasia | AD |
| CATSHL syndrome | AD, AR | ||
| Thanatophoric dysplasia, type I | AD | ||
| Bladder cancer, somatic | - | ||
| Hypochondroplasia | AD | ||
| SADDAN | AD | ||
| Colorectal cancer, somatic | - | ||
| Crouzon syndrome with acanthosis nigricans | AD | ||
| Cervical cancer, somatic | - | ||
| Nevus, epidermal, somatic | - | ||
| Thanatophoric dysplasia, type II | AD | ||
| Spermatocytic seminoma, somatic | - | ||
| Muenke syndrome | AD | ||
| LADD syndrome | AD | ||
| FGG | 134850 | Dysfibrinogenemia, congenital | - |
| Afibrinogenemia, congenital | AR | ||
| Hypofibrinogenemia, congenital | AR | ||
| Hypodysfibrinogenemia | - | ||
| FH | 136850 | Fumarase deficiency | AR |
| Leiomyomatosis and renal cell cancer | AD | ||
| FIG4 | 609390 | Amyotrophic lateral sclerosis 11 | AD |
| Yunis-Varon syndrome | AR | ||
| Charcot-Marie-Tooth disease, type 4J | AR | ||
| ?Polymicrogyria, bilateral temporooccipital | AR | ||
| FKBP14 | 614505 | Ehlers-Danlos syndrome, kyphoscoliotic type, 2 | AR |
| FKRP | 606596 | Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 | AR |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 | AR | ||
| Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 | AR | ||
| FKTN | 607440 | Cardiomyopathy, dilated, 1X | AR |
| Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 | AR | ||
| Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 | AR | ||
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 | AR | ||
| FOXC1 | 601090 | Anterior segment dysgenesis 3, multiple subtypes | AD |
| Axenfeld-Rieger syndrome, type 3 | AD | ||
| FOXE1 | 602617 | Bamforth-Lazarus syndrome | AR |
| Thyroid cancer, nonmedullary, 4 | AD | ||
| FOXG1 | 164874 | Rett syndrome, congenital variant | AD |
| FOXP3 | 300292 | Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked | XLR |
| FOXRED1 | 613622 | Mitochondrial complex I deficiency, nuclear type 19 | AR |
| FRAS1 | 607830 | Fraser syndrome 1 | AR |
| FUCA1 | 612280 | Fucosidosis | AR |
| G6PC1 | 613742 | Glycogen storage disease Ia | AR |
| G6PD | 305900 | Resistance to malaria due to G6PD deficiency | - |
| Hemolytic anemia, G6PD deficient (favism) | XLD | ||
| GAA | 606800 | Glycogen storage disease II | AR |
| GALC | 606890 | Krabbe disease | AR |
| GALE | 606953 | Galactose epimerase deficiency | AR |
| GALK1 | 604313 | Galactokinase deficiency with cataracts | AR |
| GALNS | 612222 | Mucopolysaccharidosis IVA | AR |
| GALT | 606999 | Galactosemia | AR |
| GAMT | 601240 | Cerebral creatine deficiency syndrome 2 | AR |
| GAN | 605379 | Giant axonal neuropathy-1 | AR |
| GARS1 | 600287 | Spinal muscular atrophy, infantile, James type | AD |
| Charcot-Marie-Tooth disease, type 2D | AD | ||
| Neuronopathy, distal hereditary motor, type VA | AD | ||
| GATA1 | 305371 | Thrombocytopenia with beta-thalassemia, X-linked | XLR |
| Thrombocytopenia, X-linked, with or without dyserythropoietic anemia | XLR | ||
| Anemia, X-linked, with/without neutropenia and/or platelet abnormalities | XLR | ||
| Leukemia, megakaryoblastic, with or without Down syndrome, somatic | - | ||
| Hemolytic anemia due to elevated adenosine deaminase | - | ||
| GATM | 602360 | Cerebral creatine deficiency syndrome 3 | AR |
| Fanconi renotubular syndrome 1 | AD | ||
| GBA | 606463 | Lewy body dementia, susceptibility to | AD |
| Gaucher disease, type IIIC | AR | ||
| Parkinson disease, late-onset, susceptibility to | AD, MF | ||
| Gaucher disease, type II | AR | ||
| Gaucher disease, type III | AR | ||
| Gaucher disease, perinatal lethal | AR | ||
| Gaucher disease, type I | AR | ||
| GBE1 | 607839 | Glycogen storage disease IV | AR |
| Polyglucosan body disease, adult form | AR | ||
| GCDH | 608801 | Glutaricaciduria, type I | AR |
| GCH1 | 600225 | Dystonia, DOPA-responsive, with or without hyperphenylalaninemia | AD, AR |
| Hyperphenylalaninemia, BH4-deficient, B | AR | ||
| GCK | 138079 | Diabetes mellitus, permanent neonatal 1 | AR |
| Diabetes mellitus, noninsulin-dependent, late onset | AD | ||
| Hyperinsulinemic hypoglycemia, familial, 3 | AD | ||
| MODY, type II | AD | ||
| GCSH | 238330 | ?Glycine encephalopathy | AR |
| GDAP1 | 606598 | Charcot-Marie-Tooth disease, axonal, type 2K | AD, AR |
| Charcot-Marie-Tooth disease, type 4A | AR | ||
| Charcot-Marie-Tooth disease, axonal, with vocal cord paresis | AR | ||
| Charcot-Marie-Tooth disease, recessive intermediate, A | AR | ||
| GFAP | 137780 | Alexander disease | AD |
| GFM1 | 606639 | Combined oxidative phosphorylation deficiency 1 | AR |
| GFPT1 | 138292 | Myasthenia, congenital, 12, with tubular aggregates | AR |
| GJA1 | 121014 | Oculodentodigital dysplasia, autosomal recessive | AR |
| Atrioventricular septal defect 3 | AD | ||
| Syndactyly, type III | AD | ||
| Craniometaphyseal dysplasia, autosomal recessive | AR | ||
| Palmoplantar keratoderma with congenital alopecia | AD | ||
| Oculodentodigital dysplasia | AD | ||
| Hypoplastic left heart syndrome 1 | AR | ||
| Erythrokeratodermia variabilis et progressiva 3 | AD | ||
| GJB2 | 121011 | Keratoderma, palmoplantar, with deafness | AD |
| Keratitis-ichthyosis-deafness syndrome | AD | ||
| Deafness, autosomal dominant 3A | AD | ||
| Hystrix-like ichthyosis with deafness | AD | ||
| Bart-Pumphrey syndrome | AD | ||
| Vohwinkel syndrome | AD | ||
| Deafness, autosomal recessive 1A | AR, DD | ||
| GJB4 | 605425 | Erythrokeratodermia variabilis et progressiva 2 | AD |
| GK | - | Glycerol kinase deficiency | XLR |
| GLA | 300644 | Fabry disease | XL |
| Fabry disease, cardiac variant | XL | ||
| GLB1 | 611458 | GM1-gangliosidosis, type II | AR |
| GM1-gangliosidosis, type I | AR | ||
| Mucopolysaccharidosis type IVB (Morquio) | AR | ||
| GM1-gangliosidosis, type III | AR | ||
| GLDC | 238300 | Glycine encephalopathy | AR |
| GLIS3 | 610192 | Diabetes mellitus, neonatal, with congenital hypothyroidism | AR |
| GLRA1 | 138491 | Hyperekplexia 1 | AD, AR |
| GLRB | 138492 | Hyperekplexia 2 | AR |
| GLUD1 | 138130 | Hyperinsulinism-hyperammonemia syndrome | AD |
| GLYCTK | 610516 | D-glyceric aciduria | AR |
| GMPPB | 615320 | Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 | AR |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 | AR | ||
| Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 | AR | ||
| GNAS | 139320 | Pseudohypoparathyroidism Ic | AD |
| Osseous heteroplasia, progressive | AD | ||
| Pseudopseudohypoparathyroidism | AD | ||
| Pseudohypoparathyroidism Ia | AD | ||
| Pseudohypoparathyroidism Ib | AD | ||
| Pituitary adenoma 3, multiple types, somatic | - | ||
| ACTH-independent macronodular adrenal hyperplasia | SM | ||
| McCune-Albright syndrome, somatic, mosaic | - | ||
| GNE | 603824 | Nonaka myopathy | AR |
| Sialuria | AD | ||
| GNMT | 606628 | Glycine N-methyltransferase deficiency | AR |
| GNPAT | 602744 | Rhizomelic chondrodysplasia punctata, type 2 | AR |
| GNPTAB | 607840 | Mucolipidosis III alpha/beta | AR |
| Mucolipidosis II alpha/beta | AR | ||
| GP1BA | 606672 | Bernard-Soulier syndrome, type A1 (recessive) | AR |
| von Willebrand disease, platelet-type | AD | ||
| Bernard-Soulier syndrome, type A2 (dominant) | AD | ||
| Nonarteritic anterior ischemic optic neuropathy, susceptibility to | AR | ||
| GP1BB | 138720 | Giant platelet disorder, isolated | AR |
| Bernard-Soulier syndrome, type B | AR | ||
| GP9 | 173515 | Bernard-Soulier syndrome, type C | AR |
| GPC3 | 300037 | Simpson-Golabi-Behmel syndrome, type 1 | XLR |
| Wilms tumor, somatic | - | ||
| GPHN | 603930 | Molybdenum cofactor deficiency C | AR |
| GPSM2 | 609245 | Chudley-McCullough syndrome | AR |
| GSS | 601002 | Glutathione synthetase deficiency | AR |
| Hemolytic anemia due to glutathione synthetase deficiency | AR | ||
| GUSB | 611499 | Mucopolysaccharidosis VII | AR |
| GYS2 | 138571 | Glycogen storage disease 0, liver | AR |
| HADH | 601609 | 3-hydroxyacyl-CoA dehydrogenase deficiency | AR |
| Hyperinsulinemic hypoglycemia, familial, 4 | AR | ||
| HADHA | 600890 | HELLP syndrome, maternal, of pregnancy | AR |
| LCHAD deficiency | AR | ||
| Fatty liver, acute, of pregnancy | AR | ||
| Mitochondrial trifunctional protein deficiency | AR | ||
| HADHB | 143450 | Trifunctional protein deficiency | AR |
| HAMP | 606464 | Hemochromatosis, type 2B | AR |
| HAX1 | 605998 | Neutropenia, severe congenital 3, autosomal recessive | AR |
| HBA1 | 141800 | Methemoglobinemia, alpha type | AD |
| Heinz body anemias, alpha- | AD | ||
| Erythrocytosis 7 | AD | ||
| Thalassemias, alpha- | - | ||
| Hemoglobin H disease, nondeletional | - | ||
| HBA2 | 141850 | Thalassemia, alpha- | - |
| Erythrocytosis 7 | AD | ||
| Heinz body anemia | AD | ||
| Hemoglobin H disease, deletional and nondeletional | - | ||
| HBB | 141900 | Erythrocytosis 6 | AD |
| Methemoglobinemia, beta type | AD | ||
| Delta-beta thalassemia | AD | ||
| Thalassemia-beta, dominant inclusion-body | AD | ||
| Sickle cell anemia | AR | ||
| Hereditary persistence of fetal hemoglobin | AD | ||
| Malaria, resistance to | - | ||
| Thalassemia, beta | - | ||
| Heinz body anemia | AD | ||
| HCFC1 | 300019 | Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ) | XLR |
| HESX1 | 601802 | Septooptic dysplasia | AD, AR |
| Pituitary hormone deficiency, combined, 5 | AD, AR | ||
| Growth hormone deficiency with pituitary anomalies | AD, AR | ||
| HEXA | 606869 | Tay-Sachs disease | AR |
| [Hex A pseudodeficiency] | AR | ||
| GM2-gangliosidosis, several forms | AR | ||
| HEXB | 606873 | Sandhoff disease, infantile, juvenile, and adult forms | AR |
| HGD | 607474 | Alkaptonuria | AR |
| HGF | 142409 | Deafness, autosomal recessive 39 | AR |
| HIBCH | 610690 | 3-hydroxyisobutryl-CoA hydrolase deficiency | AR |
| HLCS | 609018 | Holocarboxylase synthetase deficiency | AR |
| HMGCL | 613898 | HMG-CoA lyase deficiency | AR |
| HMGCS2 | 600234 | HMG-CoA synthase-2 deficiency | AR |
| HNF1A | 142410 | Diabetes mellitus, insulin-dependent | AR |
| Diabetes mellitus, insulin-dependent, 20 | - | ||
| MODY, type III | AD | ||
| Diabetes mellitus, noninsulin-dependent, 2 | AD | ||
| Hepatic adenoma, somatic | - | ||
| Renal cell carcinoma | - | ||
| HNF1B | 189907 | Renal cysts and diabetes syndrome | AD |
| Diabetes mellitus, noninsulin-dependent | AD | ||
| Renal cell carcinoma | - | ||
| HNF4A | 600281 | Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young | AD |
| Diabetes mellitus, noninsulin-dependent | AD | ||
| MODY, type I | AD | ||
| HPD | 609695 | Hawkinsinuria | AD |
| Tyrosinemia, type III | AR | ||
| HPGD | 601688 | Cranioosteoarthropathy | AR |
| ?Digital clubbing, isolated congenital | AR | ||
| Hypertrophic osteoarthropathy, primary, autosomal recessive 1 | AR | ||
| HRAS | 190020 | Thyroid carcinoma, follicular, somatic | - |
| Spitz nevus or nevus spilus, somatic | - | ||
| Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic | - | ||
| Bladder cancer, somatic | - | ||
| Costello syndrome | AD | ||
| Nevus sebaceous or woolly hair nevus, somatic | - | ||
| Congenital myopathy with excess of muscle spindles | AD | ||
| HSD17B10 | 300256 | HSD10 mitochondrial disease | XLD |
| HSD17B4 | 601860 | Perrault syndrome 1 | AR |
| D-bifunctional protein deficiency | AR | ||
| HSD3B2 | 613890 | Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency | AR |
| HSD3B7 | 607764 | Bile acid synthesis defect, congenital, 1 | AR |
| HSPA9 | 600548 | Even-plus syndrome | AR |
| Anemia, sideroblastic, 4 | AD | ||
| HSPD1 | 118190 | Leukodystrophy, hypomyelinating, 4 | AR |
| Spastic paraplegia 13, autosomal dominant | AD | ||
| HSPG2 | 142461 | Schwartz-Jampel syndrome, type 1 | AR |
| Dyssegmental dysplasia, Silverman-Handmaker type | AR | ||
| ICOS | 604558 | Immunodeficiency, common variable, 1 | AR |
| IDUA | 252800 | Mucopolysaccharidosis Is | AR |
| Mucopolysaccharidosis Ih/s | AR | ||
| Mucopolysaccharidosis Ih | AR | ||
| IER3IP1 | 609382 | Microcephaly, epilepsy, and diabetes syndrome | AR |
| IFIH1 | 606951 | Aicardi-Goutieres syndrome 7 | AD |
| Singleton-Merten syndrome 1 | AD | ||
| Immunodeficiency 95 | AR | ||
| IFT172 | 607386 | Retinitis pigmentosa 71 | AR |
| Bardet-Biedl syndrome 20 | AR | ||
| Short-rib thoracic dysplasia 10 with or without polydactyly | AR | ||
| IGF1 | 147440 | Growth retardation with deafness and mental retardation due to IGF1 deficiency | AR |
| IGF1R | 147370 | Insulin-like growth factor I, resistance to | AD, AR |
| IGHMBP2 | 600502 | Neuronopathy, distal hereditary motor, type VI | AR |
| Charcot-Marie-Tooth disease, axonal, type 2S | AR | ||
| IGLL1 | 146770 | Agammaglobulinemia 2 | AR |
| IGSF1 | 300137 | Hypothyroidism, central, and testicular enlargement | XLR |
| IKBKB | 603258 | Immunodeficiency 15B | AR |
| Immunodeficiency 15A | AD | ||
| IL12RB1 | 601604 | Immunodeficiency 30 | AR |
| IL2RA | 147730 | Diabetes, mellitus, insulin-dependent, susceptibility to, 10 | - |
| Immunodeficiency 41 with lymphoproliferation and autoimmunity | AR | ||
| IL2RG | 308380 | Severe combined immunodeficiency, X-linked | XLR |
| Combined immunodeficiency, X-linked, moderate | XLR | ||
| IL7R | 146661 | Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type | AR |
| INS | 176730 | Diabetes mellitus, insulin-dependent, 2 | AD |
| Maturity-onset diabetes of the young, type 10 | AD | ||
| Hyperproinsulinemia | AD | ||
| Diabetes mellitus, permanent neonatal 4 | AD, AR | ||
| INSR | 147670 | Diabetes mellitus, insulin-resistant, with acanthosis nigricans | - |
| Rabson-Mendenhall syndrome | AR | ||
| Hyperinsulinemic hypoglycemia, familial, 5 | AD | ||
| Leprechaunism | AR | ||
| INVS | 243305 | Nephronophthisis 2, infantile | AR |
| IRF8 | 601565 | Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive | AR |
| Immunodeficiency 32A, mycobacteriosis, autosomal dominant | AD | ||
| IRS4 | 300904 | Hypothyroidism, congenital, nongoitrous, 9 | XLR |
| ITGA2B | 607759 | Glanzmann thrombasthenia | AR |
| Bleeding disorder, platelet-type, 16, autosomal dominant | AD | ||
| ITGA6 | 147556 | Epidermolysis bullosa, junctional, with pyloric stenosis | AR |
| Epidermolysis bullosa, junctional 6, with pyloric atresia | - | ||
| ITGA7 | 600536 | Muscular dystrophy, congenital, due to ITGA7 deficiency | AR |
| ITGB3 | 173470 | Glanzmann thrombasthenia 2 | - |
| Glanzmann thrombasthenia | AR | ||
| Bleeding disorder, platelet-type, 16, autosomal dominant | AD | ||
| Myocardial infarction, susceptibility to | - | ||
| Bleeding disorder, platelet-type, 24, autosomal dominant | - | ||
| ITGB4 | 147557 | Epidermolysis bullosa, junctional, non-Herlitz type | AR |
| Epidermolysis bullosa, junctional 5A, intermediate | - | ||
| Epidermolysis bullosa of hands and feet | AD | ||
| Epidermolysis bullosa, junctional, with pyloric atresia | AR | ||
| IVD | 607036 | Isovaleric acidemia | AR |
| IYD | 612025 | Thyroid dyshormonogenesis 4 | AR |
| JAG1 | 601920 | Alagille syndrome 1 | AD |
| Charcot-Marie-Tooth disease, axonal, type 2HH | AD | ||
| ?Deafness, congenital heart defects, and posterior embryotoxon | AD | ||
| Tetralogy of Fallot | AD | ||
| JAGN1 | 616012 | Neutropenia, severe congenital, 6, autosomal recessive | AR |
| JAK3 | 600173 | SCID, autosomal recessive, T-negative/B-positive type | AR |
| JAM3 | 606871 | Hemorrhagic destruction of the brain, subependymal calcification, and cataracts | AR |
| KAT6A | 601408 | Arboleda-Tham syndrome | AD |
| KAT6B | 605880 | SBBYSS syndrome | AD |
| Genitopatellar syndrome | AD | ||
| KBTBD13 | 613727 | Nemaline myopathy 6, autosomal dominant | AD |
| KCNE1 | 176261 | Jervell and Lange-Nielsen syndrome 2 | AR |
| Long QT syndrome 5 | AD | ||
| KCNH1 | 603305 | Zimmermann-Laband syndrome 1 | AD |
| Temple-Baraitser syndrome | AD | ||
| KCNH2 | 152427 | Long QT syndrome 2 | AD |
| Short QT syndrome 1 | - | ||
| Long QT syndrome 2, acquired, susceptibility to | AD | ||
| KCNJ10 | 602208 | Enlarged vestibular aqueduct, digenic | AR |
| SESAME syndrome | AR | ||
| KCNJ11 | 600937 | Maturity-onset diabetes of the young, type 13 | AD |
| Diabetes mellitus, transient neonatal 3 | AD | ||
| Hyperinsulinemic hypoglycemia, familial, 2 | AD, AR | ||
| Diabetes, permanent neonatal 2, with or without neurologic features | AD | ||
| Diabetes mellitus, type 2, susceptibility to | AD | ||
| KCNQ1 | 607542 | Long QT syndrome 1, acquired, susceptibility to | AD |
| Jervell and Lange-Nielsen syndrome | AR | ||
| Atrial fibrillation, familial, 3 | AD | ||
| Short QT syndrome 2 | AD | ||
| Long QT syndrome 1 | AD | ||
| KCNQ2 | 602235 | Seizures, benign neonatal, 1 | AD |
| Developmental and epileptic encephalopathy 7 | AD | ||
| Myokymia | AD | ||
| KCNQ3 | 602232 | Seizures, benign neonatal, 2 | AD |
| KCNT1 | 608167 | Developmental and epileptic encephalopathy 14 | AD |
| Epilepsy nocturnal frontal lobe, 5 | AD | ||
| KCTD7 | 611725 | Epilepsy, progressive myoclonic 3, with or without intracellular inclusions | AR |
| KIF1B | 605995 | ?Charcot-Marie-Tooth disease, type 2A1 | AD |
| Pheochromocytoma | AD | ||
| Neuroblastoma, susceptibility to, 1 | AD, SM | ||
| KLF1 | 600599 | Dyserythropoietic anemia, congenital, type IV | AD |
| Blood group--Lutheran inhibitor | - | ||
| [Hereditary persistence of fetal hemoglobin] | - | ||
| KLHL40 | 615340 | Nemaline myopathy 8, autosomal recessive | AR |
| KLHL41 | 607701 | Nemaline myopathy 9 | AR |
| KLHL7 | 611119 | PERCHING syndrome | AR |
| Retinitis pigmentosa 42 | AD | ||
| KRAS | 190070 | Arteriovenous malformation of the brain, somatic | - |
| Gastric cancer, somatic | - | ||
| Oculoectodermal syndrome, somatic | - | ||
| RAS-associated autoimmune leukoproliferative disorder | AD | ||
| Gastric cancer, somatic | - | ||
| Pancreatic carcinoma, somatic | - | ||
| Lung cancer, somatic | - | ||
| Cardiofaciocutaneous syndrome 2 | AD | ||
| Bladder cancer, somatic | - | ||
| Leukemia, acute myeloid, somatic | - | ||
| Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic | - | ||
| Breast cancer, somatic | - | ||
| Noonan syndrome 3 | AD | ||
| KRT5 | 148040 | Epidermolysis bullosa simplex-MP | AD |
| Epidermolysis bullosa simplex, Koebner type | AD | ||
| Epidermolysis bullosa simplex, recessive 1 | AR | ||
| Epidermolysis bullosa simplex, Weber-Cockayne type | AD | ||
| Epidermolysis bullosa simplex 2B, generalized intermediate | AD | ||
| Epidermolysis bullosa simplex 2A, generalized severe | AD | ||
| Epidermolysis bullosa simplex-MCR | - | ||
| Dowling-Degos disease 1 | AD | ||
| Epidermolysis bullosa simplex 2C, localized | AD | ||
| Epidermolysis bullosa simplex, Dowling-Meara type | AD | ||
| Epidermolysis bullosa simplex 2D, generalized, intermediate or severe, autosomal recessive | AR | ||
| LAMA2 | 156225 | Muscular dystrophy, congenital, merosin deficient or partially deficient | AR |
| Muscular dystrophy, limb-girdle, autosomal recessive 23 | AR | ||
| LAMA3 | 600805 | Laryngoonychocutaneous syndrome | AR |
| Epidermolysis bullosa, junctional, Herlitz type | AR | ||
| Epidermolysis bullosa, junctional 2B, severe | - | ||
| Epidermolysis bullosa, generalized atrophic benign | AR | ||
| Epidermolysis bullosa, junctional 2A, intermediate | - | ||
| LAMB3 | 150310 | Epidermolysis bullosa, junctional, non-Herlitz type | AR |
| Amelogenesis imperfecta, type IA | AD | ||
| Epidermolysis bullosa, junctional, Herlitz type | AR | ||
| LAMC2 | 150292 | Epidermolysis bullosa, junctional, non-Herlitz type | AR |
| Epidermolysis bullosa, junctional, Herlitz type | AR | ||
| Epidermolysis bullosa, junctional 3B, severe | - | ||
| Epidermolysis bullosa, junctional 3A, intermediate | - | ||
| LAMP2 | 309060 | Danon disease | XLD |
| LAMTOR2 | 610389 | Immunodeficiency due to defect in MAPBP-interacting protein | AR |
| LARS2 | 604544 | ?Hydrops, lactic acidosis, and sideroblastic anemia | AR |
| Perrault syndrome 4 | AR | ||
| LAS1L | 300964 | Wilson-Turner syndrome | XLR |
| LCT | 603202 | Lactase deficiency, congenital | AR |
| LHX3 | 600577 | Pituitary hormone deficiency, combined, 3 | AR |
| LHX4 | 602146 | Pituitary hormone deficiency, combined, 4 | AD |
| LIAS | 607031 | Hyperglycinemia, lactic acidosis, and seizures | AR |
| LIG4 | 601837 | Multiple myeloma, resistance to | SM |
| LIG4 syndrome | AR | ||
| LIPA | 613497 | Wolman disease | AR |
| Cholesteryl ester storage disease | AR | ||
| LIPN | 613924 | Ichthyosis, congenital, autosomal recessive 8 | AR |
| LIPT1 | 610284 | Lipoyltransferase 1 deficiency | AR |
| LMBRD1 | 612625 | Methylmalonic aciduria and homocystinuria, cblF type | AR |
| LMNA | 150330 | Restrictive dermopathy 2 | - |
| Malouf syndrome | AD | ||
| Emery-Dreifuss muscular dystrophy 3, autosomal recessive | AR | ||
| Emery-Dreifuss muscular dystrophy 2, autosomal dominant | AD | ||
| Hutchinson-Gilford progeria | AD | ||
| Muscular dystrophy, congenital | AD | ||
| Restrictive dermopathy, lethal | AR | ||
| Lipodystrophy, familial partial, type 2 | AD | ||
| Charcot-Marie-Tooth disease, type 2B1 | AR | ||
| Mandibuloacral dysplasia | AR | ||
| Cardiomyopathy, dilated, 1A | AD | ||
| Heart-hand syndrome, Slovenian type | AD | ||
| LPIN1 | 605518 | Myoglobinuria, acute recurrent, autosomal recessive | AR |
| LRBA | 606453 | Immunodeficiency, common variable, 8, with autoimmunity | AR |
| LRPPRC | 607544 | Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian) | AR |
| LRRC8A | 608360 | ?Agammaglobulinemia 5 | AD |
| MAGEL2 | 605283 | Schaaf-Yang syndrome | AD |
| MAGT1 | 300715 | Congenital disorder of glycosylation, type Icc | XLR |
| Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia | XLR | ||
| MALT1 | 604860 | Immunodeficiency 12 | AR |
| MAN2B1 | 609458 | Mannosidosis, alpha-, types I and II | AR |
| MANBA | 609489 | Mannosidosis, beta | AR |
| MAP2K1 | 176872 | Cardiofaciocutaneous syndrome 3 | AD |
| Melorheostosis, isolated, somatic mosaic | - | ||
| MAP2K2 | 601263 | Cardiofaciocutaneous syndrome 4 | AD |
| MAT1A | 610550 | Methionine adenosyltransferase deficiency, autosomal recessive | AD, AR |
| Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency | AD, AR | ||
| MCCC1 | 609010 | 3-Methylcrotonyl-CoA carboxylase 1 deficiency | AR |
| MCCC2 | 609014 | 3-Methylcrotonyl-CoA carboxylase 2 deficiency | AR |
| MCEE | 608419 | Methylmalonyl-CoA epimerase deficiency | AR |
| MCM4 | 602638 | Immunodeficiency 54 | AR |
| MCPH1 | 607117 | Microcephaly 1, primary, autosomal recessive | AR |
| MECP2 | 300005 | Rett syndrome, preserved speech variant | XLD |
| Encephalopathy, neonatal severe | XLR | ||
| Mental retardation, X-linked, syndromic 13 | XLR | ||
| Rett syndrome | XLD | ||
| Mental retardation, X-linked syndromic, Lubs type | XLR | ||
| Rett syndrome, atypical | XLD | ||
| Autism susceptibility, X-linked 3 | XL | ||
| MED12 | 300188 | Opitz-Kaveggia syndrome | XLR |
| Lujan-Fryns syndrome | XLR | ||
| Ohdo syndrome, X-linked | XLR | ||
| Hardikar syndrome | XLD | ||
| MEF2C | 600662 | Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations | AD |
| Chromosome 5q14.3 deletion syndrome | AD | ||
| MEGF10 | 612453 | Myopathy, areflexia, respiratory distress, and dysphagia, early-onset | AR |
| Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant | AR | ||
| MFN2 | 608507 | Hereditary motor and sensory neuropathy VIA | AD |
| Charcot-Marie-Tooth disease, axonal, type 2A2B | AR | ||
| Charcot-Marie-Tooth disease, axonal, type 2A2A | AD | ||
| MFSD8 | 611124 | Ceroid lipofuscinosis, neuronal, 7 | AR |
| Macular dystrophy with central cone involvement | AR | ||
| MITF | 156845 | Melanoma, cutaneous malignant, susceptibility to, 8 | - |
| Waardenburg syndrome, type 2A | AD | ||
| Waardenburg syndrome/ocular albinism, digenic | - | ||
| Tietz albinism-deafness syndrome | AD | ||
| COMMAD syndrome | AR | ||
| MKKS | 604896 | McKusick-Kaufman syndrome | AR |
| Bardet-Biedl syndrome 6 | AR | ||
| MLC1 | 605908 | Megalencephalic leukoencephalopathy with subcortical cysts | AR |
| MLYCD | 606761 | Malonyl-CoA decarboxylase deficiency | AR |
| MMAA | 607481 | Methylmalonic aciduria, vitamin B12-responsive | AR |
| MMAB | 607568 | Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type | AR |
| MMACHC | 609831 | Methylmalonic aciduria and homocystinuria, cblC type | AR |
| MMADHC | 611935 | Methylmalonic aciduria and homocystinuria, cblD type | AR |
| Methylmalonic aciduria, cblD type, variant 2 | AR | ||
| Homocystinuria, cblD type, variant 1 | AR | ||
| MMUT | 609058 | Methylmalonic aciduria, mut(0) type | AR |
| MOCS1 | 603707 | Molybdenum cofactor deficiency A | AR |
| MOCS2 | 603708 | Molybdenum cofactor deficiency B | AR |
| MPC1 | 614738 | Mitochondrial pyruvate carrier deficiency | AR |
| MPI | 154550 | Congenital disorder of glycosylation, type Ib | AR |
| MPL | 159530 | Myelofibrosis with myeloid metaplasia, somatic | - |
| Thrombocytopenia, congenital amegakaryocytic | AR | ||
| Thrombocythemia 2 | AD, SM | ||
| MPV17 | 137960 | Charcot-Marie-Tooth disease, axonal, type 2EE | AR |
| Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | AR | ||
| MPZ | 159440 | Charcot-Marie-Tooth disease, type 2I | AD |
| Dejerine-Sottas disease | AD, AR | ||
| Hypomyelinating neuropathy, congenital, 2 | AD | ||
| Charcot-Marie-Tooth disease, type 2J | AD | ||
| Charcot-Marie-Tooth disease, dominant intermediate D | AD | ||
| Charcot-Marie-Tooth disease, type 1B | AD | ||
| Roussy-Levy syndrome | AD | ||
| MRPL3 | 607118 | Combined oxidative phosphorylation deficiency 9 | AR |
| MRPL44 | 611849 | ?Combined oxidative phosphorylation deficiency 16 | AR |
| MSMO1 | 607545 | Microcephaly, congenital cataract, and psoriasiform dermatitis | AR |
| MTHFR | 607093 | Neural tube defects, susceptibility to | AR |
| Homocystinuria due to MTHFR deficiency | AR | ||
| Schizophrenia, susceptibility to | AD | ||
| Thromboembolism, susceptibility to | AD | ||
| MTM1 | 300415 | Myotubular myopathy, X-linked | XLR |
| MTMR14 | 611089 | Centronuclear myopathy, autosomal, modifier of | AD |
| MTO1 | 614667 | Combined oxidative phosphorylation deficiency 10 | AR |
| MTR | 156570 | Neural tube defects, folate-sensitive, susceptibility to | AR |
| Homocystinuria-megaloblastic anemia, cblG complementation type | AR | ||
| MTRFR | 613541 | Spastic paraplegia 55, autosomal recessive | AR |
| Combined oxidative phosphorylation deficiency 7 | AR | ||
| MTRR | 602568 | Homocystinuria-megaloblastic anemia, cbl E type | AR |
| Neural tube defects, folate-sensitive, susceptibility to | AR | ||
| MUSK | 601296 | Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency | AR |
| Fetal akinesia deformation sequence 1 | AR | ||
| MVK | 251170 | Mevalonic aciduria | AR |
| Hyper-IgD syndrome | AR | ||
| Porokeratosis 3, multiple types | AD | ||
| MYCN | 164840 | Feingold syndrome 1 | AD |
| MYH9 | 160775 | Deafness, autosomal dominant 17 | AD |
| Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | AD | ||
| NAA10 | 300013 | Ogden syndrome | XLD, XLR |
| Microphthalmia, syndromic 1 | XL | ||
| NAGA | 104170 | Schindler disease, type III | AR |
| Kanzaki disease | AR | ||
| Schindler disease, type I | AR | ||
| NAGS | 608300 | N-acetylglutamate synthase deficiency | AR |
| NALCN | 611549 | Congenital contractures of the limbs and face, hypotonia, and developmental delay | AD |
| Hypotonia, infantile, with psychomotor retardation and characteristic facies 1 | AR | ||
| NARS2 | 612803 | ?Deafness, autosomal recessive 94 | AR |
| Combined oxidative phosphorylation deficiency 24 | AR | ||
| NBAS | 608025 | Short stature, optic nerve atrophy, and Pelger-Huet anomaly | AR |
| Infantile liver failure syndrome 2 | AR | ||
| NDUFA1 | 300078 | Mitochondrial complex I deficiency, nuclear type 12 | XLR |
| NDUFA10 | 603835 | Mitochondrial complex I deficiency, nuclear type 22 | AR |
| NDUFA11 | 612638 | Mitochondrial complex I deficiency, nuclear type 14 | AR |
| NDUFA2 | 602137 | Mitochondrial complex I deficiency, nuclear type 13 | AR |
| NDUFA9 | 603834 | Mitochondrial complex I deficiency, nuclear type 26 | AR |
| NDUFAF1 | 606934 | Mitochondrial complex I deficiency, nuclear type 11 | AR |
| NDUFAF2 | 609653 | Mitochondrial complex I deficiency, nuclear type 10 | AR |
| NDUFAF3 | 612911 | Mitochondrial complex I deficiency, nuclear type 18 | AR |
| NDUFAF4 | 611776 | Mitochondrial complex I deficiency, nuclear type 15 | AR |
| NDUFAF5 | 612360 | Mitochondrial complex I deficiency, nuclear type 16 | AR |
| NDUFAF6 | 612392 | Mitochondrial complex I deficiency, nuclear type 17 | AR |
| Fanconi renotubular syndrome 5 | AR | ||
| NDUFB3 | 603839 | Mitochondrial complex I deficiency, nuclear type 25 | AR |
| NDUFB9 | - | ?Mitochondrial complex I deficiency, nuclear type 24 | AR |
| NDUFS1 | 157655 | Mitochondrial complex I deficiency, nuclear type 5 | AR |
| NDUFS2 | 602985 | Mitochondrial complex I deficiency, nuclear type 6 | AR |
| NDUFS3 | 603846 | Mitochondrial complex I deficiency, nuclear type 8 | AR |
| NDUFS4 | 602694 | Mitochondrial complex I deficiency, nuclear type 1 | AR |
| NDUFS6 | 603848 | Mitochondrial complex I deficiency, nuclear type 9 | AR |
| NDUFS7 | 601825 | Mitochondrial complex I deficiency, nuclear type 3 | AR |
| NDUFV1 | 161015 | Mitochondrial complex I deficiency, nuclear type 4 | AR |
| NDUFV2 | 600532 | Mitochondrial complex I deficiency, nuclear type 7 | AR |
| NEB | 161650 | Nemaline myopathy 2, autosomal recessive | AR |
| Arthrogryposis multiplex congenita 6 | AR | ||
| NEU1 | 608272 | Sialidosis, type I | AR |
| Sialidosis, type II | AR | ||
| NEUROG3 | 604882 | Diarrhea 4, malabsorptive, congenital | AR |
| NEXN | 613121 | Cardiomyopathy, hypertrophic, 20 | AD |
| Cardiomyopathy, dilated, 1CC | AD | ||
| NFKB2 | 164012 | Immunodeficiency, common variable, 10 | AD |
| NFU1 | - | Multiple mitochondrial dysfunctions syndrome 1 | AR |
| NGF | 162030 | Neuropathy, hereditary sensory and autonomic, type V | AR |
| NGLY1 | 610661 | Congenital disorder of deglycosylation | AR |
| NHEJ1 | 611290 | Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation | - |
| NIPAL4 | 609383 | Ichthyosis, congenital, autosomal recessive 6 | AR |
| NIPBL | 608667 | Cornelia de Lange syndrome 1 | AD |
| NKX2-1 | 600635 | Chorea, hereditary benign | AD |
| Choreoathetosis, hypothyroidism, and neonatal respiratory distress | AD | ||
| Thyroid cancer, nonmedullary, 1 | AD | ||
| NKX2-5 | 600584 | Hypoplastic left heart syndrome 2 | AD |
| Hypothyroidism, congenital nongoitrous, 5 | AD | ||
| Atrial septal defect 7, with or without AV conduction defects | AD | ||
| Conotruncal heart malformations, variable | - | ||
| Ventricular septal defect 3 | AD | ||
| Tetralogy of Fallot | AD | ||
| NLRC4 | 606831 | Autoinflammation with infantile enterocolitis | AD |
| ?Familial cold autoinflammatory syndrome 4 | AD | ||
| NLRP3 | 606416 | CINCA syndrome | AD |
| Deafness, autosomal dominant 34, with or without inflammation | AD | ||
| Keratoendothelitis fugax hereditaria | AD | ||
| Familial cold inflammatory syndrome 1 | AD | ||
| Muckle-Wells syndrome | AD | ||
| NOTCH2 | 600275 | Alagille syndrome 2 | AD |
| Hajdu-Cheney syndrome | AD | ||
| NPC1 | 607623 | Niemann-Pick disease, type C1 | AR |
| Niemann-Pick disease, type D | AR | ||
| NPC2 | 601015 | Niemann-pick disease, type C2 | AR |
| NPHP1 | 607100 | Joubert syndrome 4 | AR |
| Nephronophthisis 1, juvenile | AR | ||
| Senior-Loken syndrome-1 | AR | ||
| NPHP3 | 608002 | Nephronophthisis 3 | AR |
| Meckel syndrome 7 | AR | ||
| Renal-hepatic-pancreatic dysplasia 1 | AR | ||
| NR0B1 | - | Adrenal hypoplasia, congenital | XLR |
| 46XY sex reversal 2, dosage-sensitive | XL | ||
| NR3C2 | 600983 | Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy | - |
| Pseudohypoaldosteronism type I, autosomal dominant | AD | ||
| NRAS | 164790 | Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic | - |
| Colorectal cancer, somatic | - | ||
| Neurocutaneous melanosis, somatic | - | ||
| ?RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic | - | ||
| Noonan syndrome 6 | AD | ||
| Melanocytic nevus syndrome, congenital, somatic | - | ||
| Thyroid carcinoma, follicular, somatic | - | ||
| Epidermal nevus, somatic | - | ||
| NSD1 | 606681 | Sotos syndrome 1 | AD |
| NSDHL | 300275 | CK syndrome | XLR |
| CHILD syndrome | XLD | ||
| NUBPL | 613621 | Mitochondrial complex I deficiency, nuclear type 21 | AR |
| OAT | 613349 | Gyrate atrophy of choroid and retina with or without ornithinemia | AR |
| OCLN | 602876 | Pseudo-TORCH syndrome 1 | AR |
| OCRL | - | Lowe syndrome | XLR |
| Dent disease 2 | XLR | ||
| ODAD1 | 615038 | Ciliary dyskinesia, primary, 20 | AR |
| OPA3 | 606580 | 3-methylglutaconic aciduria, type III | AR |
| Optic atrophy 3 with cataract | AD | ||
| OPHN1 | 300127 | Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance | XLR |
| ORC1 | 601902 | Meier-Gorlin syndrome 1 | AR |
| ORC4 | 603056 | Meier-Gorlin syndrome 2 | AR |
| OTC | 300461 | Ornithine transcarbamylase deficiency | XL |
| OTX2 | 600037 | Retinal dystrophy, early-onset, with or without pituitary dysfunction | AD |
| Microphthalmia, syndromic 5 | AD | ||
| Pituitary hormone deficiency, combined, 6 | AD | ||
| OXCT1 | - | Succinyl CoA:3-oxoacid CoA transferase deficiency | AR |
| PAFAH1B1 | 601545 | Subcortical laminar heterotopia | AD |
| Lissencephaly 1 | AD | ||
| PAH | 612349 | Phenylketonuria | AR |
| [Hyperphenylalaninemia, non-PKU mild] | AR | ||
| PAX2 | 167409 | Glomerulosclerosis, focal segmental, 7 | AD |
| Papillorenal syndrome | AD | ||
| PAX3 | 606597 | Waardenburg syndrome, type 3 | AD, AR |
| Rhabdomyosarcoma 2, alveolar | SM | ||
| Craniofacial-deafness-hand syndrome | AD | ||
| Waardenburg syndrome, type 1 | AD | ||
| PAX6 | 607108 | ?Coloboma, ocular | AD |
| Aniridia | AD | ||
| ?Morning glory disc anomaly | AD | ||
| Keratitis | AD | ||
| Optic nerve hypoplasia | AD | ||
| ?Coloboma of optic nerve | AD | ||
| Anterior segment dysgenesis 5, multiple subtypes | AD | ||
| Cataract with late-onset corneal dystrophy | AD | ||
| Foveal hypoplasia 1 | AD | ||
| PAX8 | 167415 | Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia | AD |
| PC | 608786 | Pyruvate carboxylase deficiency | AR |
| PCBD1 | 126090 | Hyperphenylalaninemia, BH4-deficient, D | AR |
| PCCA | 232000 | Propionicacidemia | AR |
| PCCB | 232050 | Propionicacidemia | AR |
| PCDH19 | 300460 | Developmental and epileptic encephalopathy 9 | XL |
| PCNT | 605925 | Microcephalic osteodysplastic primordial dwarfism, type II | AR |
| PDCD10 | 609118 | Cerebral cavernous malformations 3 | AD |
| PDE10A | 610652 | Dyskinesia, limb and orofacial, infantile-onset | AR |
| Striatal degeneration, autosomal dominant | AD | ||
| PDHA1 | - | Pyruvate dehydrogenase E1-alpha deficiency | XLD |
| PDHB | 179060 | Pyruvate dehydrogenase E1-beta deficiency | AR |
| PDHX | 608769 | Lacticacidemia due to PDX1 deficiency | AR |
| PDP1 | 605993 | Pyruvate dehydrogenase phosphatase deficiency | AR |
| PDSS2 | 610564 | Coenzyme Q10 deficiency, primary, 3 | AR |
| PDX1 | 600733 | Pancreatic agenesis 1 | AR |
| MODY, type IV | - | ||
| Diabetes mellitus, type II, susceptibility to | AD | ||
| PEPD | 613230 | Prolidase deficiency | AR |
| PEX1 | 602136 | Peroxisome biogenesis disorder 1A (Zellweger) | AR |
| Peroxisome biogenesis disorder 1B (NALD/IRD) | AR | ||
| Heimler syndrome 1 | AR | ||
| PEX10 | 602859 | Peroxisome biogenesis disorder 6A (Zellweger) | AR |
| Peroxisome biogenesis disorder 6B | AR | ||
| PEX12 | 601758 | Peroxisome biogenesis disorder 3B | AR |
| Peroxisome biogenesis disorder 3A (Zellweger) | AR | ||
| PEX13 | 601789 | Peroxisome biogenesis disorder 11B | AR |
| Peroxisome biogenesis disorder 11A (Zellweger) | AR | ||
| PEX14 | 601791 | Peroxisome biogenesis disorder 13A (Zellweger) | AR |
| PEX16 | 603360 | Peroxisome biogenesis disorder 8A (Zellweger) | AR |
| Peroxisome biogenesis disorder 8B | AR | ||
| PEX19 | 600279 | Peroxisome biogenesis disorder 12A (Zellweger) | AR |
| PEX2 | 170993 | Peroxisome biogenesis disorder 5B | AR |
| Peroxisome biogenesis disorder 5A (Zellweger) | AR | ||
| PEX26 | 608666 | Peroxisome biogenesis disorder 7A (Zellweger) | AR |
| Peroxisome biogenesis disorder 7B | AR | ||
| PEX3 | 603164 | Peroxisome biogenesis disorder 10A (Zellweger) | AR |
| ?Peroxisome biogenesis disorder 10B | AR | ||
| PEX5 | 600414 | Rhizomelic chondrodysplasia punctata, type 5 | AR |
| Peroxisome biogenesis disorder 2B | AR | ||
| Peroxisome biogenesis disorder 2A (Zellweger) | AR | ||
| PEX6 | - | Peroxisome biogenesis disorder 4B | AD, AR |
| Peroxisome biogenesis disorder 4A (Zellweger) | AR | ||
| Heimler syndrome 2 | AR | ||
| PEX7 | 601757 | Peroxisome biogenesis disorder 9B | AR |
| Rhizomelic chondrodysplasia punctata, type 1 | AR | ||
| PGAP1 | 611655 | Mental retardation, autosomal recessive 42 | AR |
| PGM1 | 171900 | Congenital disorder of glycosylation, type It | AR |
| PHGDH | 606879 | Phosphoglycerate dehydrogenase deficiency | AR |
| Neu-Laxova syndrome 1 | AR | ||
| PHKG2 | 172471 | Glycogen storage disease IXc | AR |
| PHOX2B | 603851 | Central hypoventilation syndrome, congenital, with or without Hirschsprung disease | AD |
| Neuroblastoma, susceptibility to, 2 | - | ||
| Neuroblastoma with Hirschsprung disease | - | ||
| PIGA | 311770 | Paroxysmal nocturnal hemoglobinuria, somatic | - |
| Multiple congenital anomalies-hypotonia-seizures syndrome 2 | XLR | ||
| Neurodevelopmental disorder with epilepsy and hemochromatosis | - | ||
| PIGN | 606097 | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | AR |
| PIGT | 610272 | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | AR |
| ?Paroxysmal nocturnal hemoglobinuria 2 | AD, SM | ||
| PIGV | 610274 | Hyperphosphatasia with mental retardation syndrome 1 | AR |
| PIK3CD | 602839 | Immunodeficiency 14 | AD |
| ?Roifman-Chitayat syndrome, digenic | DR | ||
| Immunodeficiency 14B, autosomal recessive | AR | ||
| PKD2 | 173910 | Polycystic kidney disease 2 | AD |
| PKHD1 | 606702 | Polycystic kidney disease 4, with or without hepatic disease | AR |
| PKLR | 609712 | Adenosine triphosphate, elevated, of erythrocytes | AD |
| Pyruvate kinase deficiency | AR | ||
| PLCB4 | 600810 | Auriculocondylar syndrome 2 | AD, AR |
| PLEC | 601282 | Epidermolysis bullosa simplex, Ogna type | AD |
| Epidermolysis bullosa simplex with muscular dystrophy | AR | ||
| ?Epidermolysis bullosa simplex with nail dystrophy | AR | ||
| Epidermolysis bullosa simplex with pyloric atresia | AR | ||
| Muscular dystrophy, limb-girdle, autosomal recessive 17 | AR | ||
| PLOD1 | 153454 | Ehlers-Danlos syndrome, kyphoscoliotic type, 1 | AR |
| PLP1 | 300401 | Pelizaeus-Merzbacher disease | XLR |
| Spastic paraplegia 2, X-linked | XLR | ||
| PMM2 | 601785 | Congenital disorder of glycosylation, type Ia | AR |
| PMP22 | 601097 | Neuropathy, recurrent, with pressure palsies | AD |
| Dejerine-Sottas disease | AD, AR | ||
| Roussy-Levy syndrome | AD | ||
| ?Neuropathy, inflammatory demyelinating | ?AD | ||
| Charcot-Marie-Tooth disease, type 1E | AD | ||
| Charcot-Marie-Tooth disease, type 1A | AD | ||
| PNKP | 605610 | Ataxia-oculomotor apraxia 4 | AR |
| Microcephaly, seizures, and developmental delay | AR | ||
| ?Charcot-Marie-Tooth disease, type 2B2 | AR | ||
| PNP | 164050 | Immunodeficiency due to purine nucleoside phosphorylase deficiency | AR |
| PNPLA1 | 612121 | Ichthyosis, congenital, autosomal recessive 10 | AR |
| PNPO | 603287 | Pyridoxamine 5'-phosphate oxidase deficiency | AR |
| PNPT1 | 610316 | Deafness, autosomal recessive 70 | AR |
| Combined oxidative phosphorylation deficiency 13 | AR | ||
| Spinocerebellar ataxia 25 | - | ||
| POGZ | 614787 | White-Sutton syndrome | AD |
| POLG | 174763 | Progressive external ophthalmoplegia, autosomal recessive 1 | AR |
| Progressive external ophthalmoplegia, autosomal dominant 1 | AD | ||
| Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) | AR | ||
| Mitochondrial DNA depletion syndrome 4B (MNGIE type) | AR | ||
| Mitochondrial DNA depletion syndrome 4A (Alpers type) | AR | ||
| POLG2 | 604983 | Mitochondrial DNA depletion syndrome 16 (hepatic type) | AR |
| ?Mitochondrial DNA depletion syndrome 16B (neuroophthalmic type) | AR | ||
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 | AD | ||
| POMGNT1 | 606822 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 | AR |
| Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3 | AR | ||
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 | AR | ||
| Retinitis pigmentosa 76 | AR | ||
| POMGNT2 | 614828 | Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 | AR |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 | AR | ||
| POMK | 615247 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 | AR |
| ?Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12 | AR | ||
| POMT1 | 607423 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 | AR |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | AR | ||
| Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 | AR | ||
| POMT2 | 607439 | Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 | AR |
| Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 | AR | ||
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 | AR | ||
| POU1F1 | 173110 | Pituitary hormone deficiency, combined, 1 | AD, AR |
| PPT1 | 600722 | Ceroid lipofuscinosis, neuronal, 1 | AR |
| PRDM16 | 605557 | Cardiomyopathy, dilated, 1LL | AD |
| Left ventricular noncompaction 8 | AD | ||
| PRKAG2 | 602743 | Glycogen storage disease of heart, lethal congenital | AD |
| Cardiomyopathy, hypertrophic 6 | AD | ||
| Wolff-Parkinson-White syndrome | AD | ||
| PRKAR1A | 188830 | Myxoma, intracardiac | AD |
| Pigmented nodular adrenocortical disease, primary, 1 | AD | ||
| Carney complex, type 1 | AD | ||
| Acrodysostosis 1, with or without hormone resistance | AD | ||
| PROC | 612283 | Thrombophilia due to protein C deficiency, autosomal dominant | AD |
| Thrombophilia due to protein C deficiency, autosomal recessive | AR | ||
| PRODH | 606810 | Schizophrenia, susceptibility to, 4 | AD |
| Hyperprolinemia, type I | AR | ||
| PROP1 | 601538 | Pituitary hormone deficiency, combined, 2 | AR |
| PROS1 | 176880 | Thrombophilia due to protein S deficiency, autosomal recessive | AR |
| Thrombophilia due to protein S deficiency, autosomal dominant | AD | ||
| PRPS1 | 311850 | Charcot-Marie-Tooth disease, X-linked recessive, 5 | XLR |
| Deafness, X-linked 1 | XL | ||
| Phosphoribosylpyrophosphate synthetase superactivity | XLR | ||
| Arts syndrome | XLR | ||
| Gout, PRPS-related | XLR | ||
| PRRT2 | 614386 | Episodic kinesigenic dyskinesia 1 | AD |
| Convulsions, familial infantile, with paroxysmal choreoathetosis | AD | ||
| Seizures, benign familial infantile, 2 | AD | ||
| PSAP | 176801 | Combined SAP deficiency | AR |
| Gaucher disease, atypical | - | ||
| Krabbe disease, atypical | AR | ||
| Parkinson disease 24, autosomal dominant, susceptibility to | AD | ||
| Metachromatic leukodystrophy due to SAP-b deficiency | AR | ||
| PSAT1 | 610936 | Neu-Laxova syndrome 2 | AR |
| ?Phosphoserine aminotransferase deficiency | AR | ||
| PSPH | 172480 | Phosphoserine phosphatase deficiency | AR |
| PTPN11 | 176876 | Leukemia, juvenile myelomonocytic, somatic | - |
| LEOPARD syndrome 1 | AD | ||
| Metachondromatosis | AD | ||
| Noonan syndrome 1 | AD | ||
| PTPRC | 151460 | Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive | AR |
| Hepatitis C virus, susceptibility to | - | ||
| Immunodeficiency 105, severe combined | - | ||
| PTRH2 | 608625 | Infantile-onset multisystem neurologic, endocrine, and pancreatic disease | AR |
| PTS | 612719 | Hyperphenylalaninemia, BH4-deficient, A | AR |
| PURA | 600473 | Mental retardation, autosomal dominant 31 | AD |
| QDPR | 612676 | Hyperphenylalaninemia, BH4-deficient, C | AR |
| RAB18 | 602207 | Warburg micro syndrome 3 | AR |
| RAB3GAP1 | 602536 | Martsolf syndrome 2 | AR |
| Warburg micro syndrome 1 | AR | ||
| RAB3GAP2 | 609275 | Warburg micro syndrome 2 | AR |
| Martsolf syndrome | AR | ||
| RAC2 | 602049 | ?Immunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinemia | AR |
| Immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis | AD | ||
| Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopenia | AD | ||
| RAF1 | 164760 | Noonan syndrome 5 | AD |
| LEOPARD syndrome 2 | - | ||
| Cardiomyopathy, dilated, 1NN | AD | ||
| RAG1 | 179615 | Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity | - |
| Omenn syndrome | AR | ||
| Severe combined immunodeficiency, B cell-negative | AR | ||
| Combined cellular and humoral immune defects with granulomas | AR | ||
| RAG2 | 179616 | Omenn syndrome | AR |
| Combined cellular and humoral immune defects with granulomas | AR | ||
| Severe combined immunodeficiency, B cell-negative | AR | ||
| RANBP2 | 601181 | Encephalopathy, acute, infection-induced, 3, susceptibility to | AD |
| RAPSN | 601592 | Fetal akinesia deformation sequence 2 | AR |
| Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency | AR | ||
| RARS2 | 611524 | Pontocerebellar hypoplasia, type 6 | AR |
| RB1 | 614041 | Bladder cancer, somatic | - |
| Retinoblastoma, trilateral | AD, SM | ||
| Small cell cancer of the lung, somatic | - | ||
| Osteosarcoma, somatic | - | ||
| Retinoblastoma | AD, SM | ||
| RBBP8 | 604124 | Seckel syndrome 2 | AR |
| Jawad syndrome | AR | ||
| RBM8A | 605313 | Thrombocytopenia-absent radius syndrome | AR |
| RET | 164761 | Hirschsprung disease, susceptibility to, 1 | AD |
| Multiple endocrine neoplasia IIA | AD | ||
| Medullary thyroid carcinoma | AD | ||
| Pheochromocytoma | AD | ||
| Multiple endocrine neoplasia IIB | AD | ||
| Hirschsprung disease, protection against | AD | ||
| Central hypoventilation syndrome, congenital | AD | ||
| RFT1 | 611908 | Congenital disorder of glycosylation, type In | AR |
| RFX5 | 601863 | Bare lymphocyte syndrome, type II, complementation group E | AR |
| Bare lymphocyte syndrome, type II, complementation group C | AR | ||
| RFX6 | 612659 | Mitchell-Riley syndrome | AR |
| RIT1 | 609591 | Noonan syndrome 8 | AD |
| RMND1 | 614917 | Combined oxidative phosphorylation deficiency 11 | AR |
| RNASEH2C | 610330 | Aicardi-Goutieres syndrome 3 | AR |
| RNASET2 | 612944 | Leukoencephalopathy, cystic, without megalencephaly | AR |
| RORC | 602943 | Immunodeficiency 42 | AR |
| RPS19 | 603474 | Diamond-Blackfan anemia 1 | AD |
| RRM2B | 604712 | Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) | AR |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 | AD | ||
| Mitochondrial DNA depletion syndrome 8B (MNGIE type) | AR | ||
| Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction | AR | ||
| RXYLT1 | 605862 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10 | AR |
| RYR1 | 180901 | Malignant hyperthermia susceptibility 1 | AD |
| King-Denborough syndrome | AD | ||
| King-Denborough syndrome | AD | ||
| Central core disease | AD, AR | ||
| Neuromuscular disease, congenital, with uniform type 1 fiber | AD, AR | ||
| Minicore myopathy with external ophthalmoplegia | AR | ||
| SALL1 | 602218 | Townes-Brocks branchiootorenal-like syndrome | AD |
| Townes-Brocks syndrome 1 | AD | ||
| SATB2 | 608148 | Glass syndrome | AD |
| SBDS | 607444 | Aplastic anemia, susceptibility to | - |
| Shwachman-Diamond syndrome | AR | ||
| SCN1A | 182389 | Epilepsy, generalized, with febrile seizures plus, type 2 | AD |
| Migraine, familial hemiplegic, 3 | AD | ||
| Developmental and epileptic encephalopathy 6B, non-Dravet | AD | ||
| Febrile seizures, familial, 3A | AD | ||
| Dravet syndrome | AD | ||
| SCN2A | 182390 | Developmental and epileptic encephalopathy 11 | AD |
| Seizures, benign familial infantile, 3 | AD | ||
| Episodic ataxia, type 9 | AD | ||
| SCN4A | 603967 | Paramyotonia congenita | AD |
| Myotonia congenita, atypical, acetazolamide-responsive | AD | ||
| Myasthenic syndrome, congenital, 16 | AR | ||
| Hyperkalemic periodic paralysis, type 2 | AD | ||
| Hypokalemic periodic paralysis, type 2 | AD | ||
| SCN5A | 600163 | Heart block, nonprogressive | AD |
| Ventricular fibrillation, familial, 1 | - | ||
| Sick sinus syndrome 1 | AR | ||
| Brugada syndrome 1 | AD | ||
| Heart block, progressive, type IA | AD | ||
| Atrial fibrillation, familial, 10 | AD | ||
| Long QT syndrome 3 | AD | ||
| Cardiomyopathy, dilated, 1E | AD | ||
| Sudden infant death syndrome, susceptibility to | AR | ||
| SCN9A | 603415 | Erythermalgia, primary | AD |
| Generalized epilepsy with febrile seizures plus, type 7 | AD | ||
| Febrile seizures, familial, 3B | AD | ||
| Neuropathy, hereditary sensory and autonomic, type IID | AR | ||
| Insensitivity to pain, congenital | AR | ||
| Paroxysmal extreme pain disorder | AD | ||
| Small fiber neuropathy | AD | ||
| SCO1 | 603644 | Mitochondrial complex IV deficiency, nuclear type 4 | AR |
| SCO2 | 604272 | Myopia 6 | AD |
| Mitochondrial complex IV deficiency, nuclear type 2 | AR | ||
| SDHA | 600857 | Neurodegeneration with ataxia and late-onset optic atrophy | AD |
| Cardiomyopathy, dilated, 1GG | AR | ||
| Leigh syndrome | AR, Mitochondrial | ||
| Mitochondrial respiratory chain complex II deficiency | AR | ||
| Paragangliomas 5 | AD | ||
| SDHAF1 | 612848 | Mitochondrial complex II deficiency, nuclear type 2 | AR |
| Mitochondrial complex II deficiency | AR | ||
| SECISBP2 | 607693 | Thyroid hormone metabolism, abnormal | AR |
| SELENON | 606210 | Muscular dystrophy, rigid spine, 1 | AR |
| Myopathy, congenital, with fiber-type disproportion | AD, AR | ||
| SERAC1 | 614725 | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | AR |
| SERPINC1 | 107300 | Thrombophilia due to antithrombin III deficiency | AD, AR |
| SERPING1 | 606860 | Complement component 4, partial deficiency of | AD |
| Angioedema, hereditary, types I and II | AD, AR | ||
| SFTPB | 178640 | Surfactant metabolism dysfunction, pulmonary, 1 | AR |
| SFTPC | 178620 | Surfactant metabolism dysfunction, pulmonary, 2 | AD |
| SHOC2 | 602775 | Noonan syndrome-like with loose anagen hair 1 | AD |
| SIL1 | 608005 | Marinesco-Sjogren syndrome | AR |
| SIX3 | 603714 | Holoprosencephaly 2 | AD |
| Schizencephaly | - | ||
| SIX5 | 600963 | Branchiootorenal syndrome 2 | - |
| SKI | 164780 | Shprintzen-Goldberg syndrome | AD |
| SLC12A6 | 604878 | Agenesis of the corpus callosum with peripheral neuropathy | AR |
| Charcot-Marie-Tooth disease, axonal, type 2II | - | ||
| SLC16A1 | 600682 | Hyperinsulinemic hypoglycemia, familial, 7 | AD |
| Erythrocyte lactate transporter defect | AD | ||
| Monocarboxylate transporter 1 deficiency | AD, AR | ||
| SLC16A2 | 300095 | Allan-Herndon-Dudley syndrome | XL |
| SLC17A5 | 604322 | Sialic acid storage disorder, infantile | AR |
| Salla disease | AR | ||
| SLC19A2 | 603941 | Thiamine-responsive megaloblastic anemia syndrome | AR |
| SLC19A3 | 606152 | Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) | AR |
| SLC22A5 | 603377 | Carnitine deficiency, systemic primary | AR |
| SLC25A1 | 190315 | Myasthenic syndrome, congenital, 23, presynaptic | AR |
| Combined D-2- and L-2-hydroxyglutaric aciduria | AR | ||
| SLC25A12 | 603667 | Developmental and epileptic encephalopathy 39 | AR |
| SLC25A13 | 603859 | Citrullinemia, type II, neonatal-onset | AR |
| Citrullinemia, adult-onset type II | AR | ||
| SLC25A15 | 603861 | Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome | AR |
| SLC25A19 | 606521 | Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type) | AR |
| Microcephaly, Amish type | AR | ||
| SLC25A20 | 613698 | Carnitine-acylcarnitine translocase deficiency | AR |
| SLC25A22 | 609302 | Developmental and epileptic encephalopathy 3 | AR |
| SLC25A3 | 600370 | Mitochondrial phosphate carrier deficiency | AR |
| SLC26A2 | 606718 | Diastrophic dysplasia, broad bone-platyspondylic variant | AR |
| Achondrogenesis Ib | AR | ||
| Epiphyseal dysplasia, multiple, 4 | AR | ||
| De la Chapelle dysplasia | AR | ||
| Diastrophic dysplasia | AR | ||
| Atelosteogenesis, type II | AR | ||
| SLC26A3 | 126650 | Diarrhea 1, secretory chloride, congenital | AR |
| SLC26A4 | 605646 | Pendred syndrome | AR |
| Deafness, autosomal recessive 4, with enlarged vestibular aqueduct | AR | ||
| SLC2A1 | 138140 | GLUT1 deficiency syndrome 2, childhood onset | AD |
| GLUT1 deficiency syndrome 1, infantile onset, severe | AD, AR | ||
| Epilepsy, idiopathic generalized, susceptibility to, 12 | AD | ||
| Stomatin-deficient cryohydrocytosis with neurologic defects | AD | ||
| Dystonia 9 | AD | ||
| SLC30A2 | 609617 | Zinc deficiency, transient neonatal | AD |
| SLC33A1 | 603690 | Congenital cataracts, hearing loss, and neurodegeneration | AR |
| Spastic paraplegia 42, autosomal dominant | AD | ||
| SLC3A1 | 104614 | Cystinuria | AD, AR |
| SLC4A1 | 109270 | [Blood group, Wright] | - |
| Distal renal tubular acidosis 1 | AD | ||
| Ovalocytosis, SA type | AD | ||
| [Malaria, resistance to] | - | ||
| [Blood group, Swann] | - | ||
| [Blood group, Froese] | - | ||
| [Blood group, Waldner] | - | ||
| Cryohydrocytosis | AD | ||
| [Blood group, Diego] | - | ||
| Distal renal tubular acidosis 4 with hemolytic anemia | AR | ||
| Spherocytosis, type 4 | AD | ||
| SLC52A1 | 607883 | Riboflavin deficiency | AD |
| SLC52A3 | 613350 | ?Fazio-Londe disease | AR |
| Brown-Vialetto-Van Laere syndrome 1 | AR | ||
| SLC5A1 | 182380 | Glucose/galactose malabsorption | AR |
| SLC5A5 | 601843 | Thyroid dyshormonogenesis 1 | AR |
| SLC6A1 | 137165 | Myoclonic-atonic epilepsy | AD |
| SLC6A3 | 126455 | Nicotine dependence, protection against | - |
| Parkinsonism-dystonia, infantile, 1 | AR | ||
| SLC6A5 | 604159 | Hyperekplexia 3 | AD, AR |
| SLC7A7 | 603593 | Lysinuric protein intolerance | AR |
| SLC7A9 | 604144 | Cystinuria | AD, AR |
| SLCO1B1 | 604843 | Hyperbilirubinemia, Rotor type, digenic | DR |
| SLCO1B3 | 605495 | Hyperbilirubinemia, Rotor type, digenic | DR |
| SMPD1 | 607608 | Niemann-Pick disease, type A | AR |
| Niemann-Pick disease, type B | AR | ||
| SNAI2 | 602150 | Waardenburg syndrome, type 2D | AR |
| Piebaldism | AD | ||
| SNX10 | 614780 | Osteopetrosis, autosomal recessive 8 | AR |
| SOS1 | 182530 | Noonan syndrome 4 | AD |
| ?Fibromatosis, gingival, 1 | AD | ||
| SOX10 | 602229 | Waardenburg syndrome, type 4C | AD |
| PCWH syndrome | AD | ||
| Waardenburg syndrome, type 2E, with or without neurologic involvement | AD | ||
| SOX2 | 184429 | Microphthalmia, syndromic 3 | AD |
| Optic nerve hypoplasia and abnormalities of the central nervous system | AD | ||
| SOX9 | 608160 | Acampomelic campomelic dysplasia | AD |
| Campomelic dysplasia | AD | ||
| Campomelic dysplasia with autosomal sex reversal | AD | ||
| SPAST | 604277 | Spastic paraplegia 4, autosomal dominant | AD |
| SPEG | 615950 | Centronuclear myopathy 5 | AR |
| SPINK5 | 605010 | Netherton syndrome | AR |
| SPINT2 | 605124 | Diarrhea 3, secretory sodium, congenital, syndromic | AR |
| SPR | 182125 | Dystonia, dopa-responsive, due to sepiapterin reductase deficiency | ?AD, AR |
| SPRED1 | 609291 | Legius syndrome | AD |
| SPTA1 | 182860 | Pyropoikilocytosis | AR |
| Elliptocytosis-2 | AD | ||
| Spherocytosis, type 3 | AR | ||
| SPTAN1 | 182810 | Developmental and epileptic encephalopathy 5 | AD |
| SPTB | 182870 | Spherocytosis, type 2 | AD |
| Elliptocytosis-3 | - | ||
| Anemia, neonatal hemolytic, fatal or near-fatal | - | ||
| SRD5A3 | 611715 | Congenital disorder of glycosylation, type Iq | AR |
| Kahrizi syndrome | AR | ||
| ST3GAL3 | 606494 | ?Developmental and epileptic encephalopathy 15 | AR |
| Mental retardation, autosomal recessive 12 | AR | ||
| ST3GAL5 | 604402 | Salt and pepper developmental regression syndrome | AR |
| STAR | 600617 | Lipoid adrenal hyperplasia | AR |
| STAT1 | 600555 | Immunodeficiency 31C, chronic mucocutaneous candidiasis, autosomal dominant | AD |
| Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive | AR | ||
| Immunodeficiency 31A, mycobacteriosis, autosomal dominant | AD | ||
| STAT3 | 102582 | Hyper-IgE recurrent infection syndrome | AD |
| Autoimmune disease, multisystem, infantile-onset, 1 | AD | ||
| STIL | 181590 | Microcephaly 7, primary, autosomal recessive | AR |
| STIM1 | 605921 | Myopathy, tubular aggregate, 1 | AD |
| Stormorken syndrome | AD | ||
| Immunodeficiency 10 | AR | ||
| STING1 | 612374 | STING-associated vasculopathy, infantile-onset | AD |
| STS | 300747 | Ichthyosis, X-linked | XLR |
| STT3B | 608605 | ?Congenital disorder of glycosylation, type Ix | AR |
| STXBP1 | 602926 | Developmental and epileptic encephalopathy 4 | AD |
| SUCLA2 | 603921 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | AR |
| SUCLG1 | 611224 | Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) | AR |
| SUMF1 | 607939 | Multiple sulfatase deficiency | AR |
| SUOX | 606887 | Sulfite oxidase deficiency | AR |
| SYNE1 | 608441 | Arthrogryposis multiplex congenita 3, myogenic type | AR |
| Emery-Dreifuss muscular dystrophy 4, autosomal dominant | AD | ||
| Spinocerebellar ataxia, autosomal recessive 8 | AR | ||
| TACO1 | 612958 | Mitochondrial complex IV deficiency, nuclear type 8 | AR |
| TAFAZZIN | 300394 | Barth syndrome | XLR |
| TAT | 613018 | Tyrosinemia, type II | AR |
| TBC1D24 | 613577 | Deafness, autosomal dominant 65 | AD |
| Deafness, autosomal recessive 86 | AR | ||
| Myoclonic epilepsy, infantile, familial | AR | ||
| Developmental and epileptic encephalopathy 16 | AR | ||
| DOORS syndrome | AR | ||
| Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp | AR | ||
| TBCE | 604934 | Hypoparathyroidism-retardation-dysmorphism syndrome | AR |
| Encephalopathy, progressive, with amyotrophy and optic atrophy | AR | ||
| Kenny-Caffey syndrome, type 1 | AR | ||
| TBL1X | 300196 | Hypothyroidism, congenital, nongoitrous, 8 | XL |
| TBX19 | 604614 | Adrenocorticotropic hormone deficiency | AR |
| TBX5 | 601620 | Holt-Oram syndrome | AD |
| TCAP | 604488 | Muscular dystrophy, limb-girdle, autosomal recessive 7 | AR |
| Cardiomyopathy, hypertrophic, 25 | AD | ||
| TCN2 | 613441 | Transcobalamin II deficiency | AR |
| TFR2 | 604720 | Hemochromatosis, type 3 | AR |
| TG | 188450 | Thyroid dyshormonogenesis 3 | AR |
| Autoimmune thyroid disease, susceptibility to, 3 | - | ||
| TGM1 | 190195 | Ichthyosis, congenital, autosomal recessive 1 | AR |
| TH | 191290 | Segawa syndrome, recessive | AR |
| THRA | 190120 | Hypothyroidism, congenital, nongoitrous, 6 | AD |
| THRB | 190160 | Thyroid hormone resistance, autosomal recessive | AR |
| Thyroid hormone resistance | AD | ||
| Thyroid hormone resistance, selective pituitary | AD | ||
| TJP2 | 607709 | Hypercholanemia, familial | AR |
| Cholestasis, progressive familial intrahepatic 4 | AR | ||
| TMCO1 | 614123 | Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome | AR |
| TMEM165 | 614726 | Congenital disorder of glycosylation, type IIk | AR |
| TMEM70 | 612418 | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 | AR |
| TNFRSF13B | 604907 | Immunodeficiency, common variable, 2 | AD, AR |
| Immunoglobulin A deficiency 2 | - | ||
| TNFRSF13C | 606269 | Immunodeficiency, common variable, 4 | AR |
| TNFSF4 | 603594 | Myocardial infarction, susceptibility to | - |
| TNNT1 | 191041 | Nemaline myopathy 5, Amish type | AR |
| TP63 | 603273 | Rapp-Hodgkin syndrome | AD |
| Orofacial cleft 8 | - | ||
| Limb-mammary syndrome | AD | ||
| Split-hand/foot malformation 4 | AD | ||
| Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 | AD | ||
| Hay-Wells syndrome | AD | ||
| ADULT syndrome | AD | ||
| TPM2 | 190990 | Arthrogryposis, distal, type 2B4 | AD |
| Arthrogryposis, distal, type 1A | AD | ||
| CAP myopathy 2 | AD | ||
| Nemaline myopathy 4, autosomal dominant | AD | ||
| TPM3 | 191030 | Myopathy, congenital, with fiber-type disproportion | AD, AR |
| Nemaline myopathy 1, autosomal dominant or recessive | AD, AR | ||
| CAP myopathy 1 | AD, AR | ||
| TPO | 606765 | Thyroid dyshormonogenesis 2A | AR |
| TPP1 | 607998 | Ceroid lipofuscinosis, neuronal, 2 | AR |
| Spinocerebellar ataxia, autosomal recessive 7 | AR | ||
| TRH | 613879 | Thyrotropin-releasing hormone deficiency | AR |
| TRHR | 188545 | Hypothyroidism, congenital, nongoitrous, 7 | AR |
| TRIP11 | 604505 | Achondrogenesis, type IA | AR |
| Osteochondrodysplasia | AR | ||
| TRMU | 610230 | Liver failure, transient infantile | AR |
| Deafness, mitochondrial, modifier of | Mitochondrial | ||
| TRPV4 | 605427 | SED, Maroteaux type | AD |
| Spondylometaphyseal dysplasia, Kozlowski type | AD | ||
| Metatropic dysplasia | AD | ||
| Brachyolmia type 3 | AD | ||
| Neuronopathy, distal hereditary motor, type VIII | AD | ||
| [Sodium serum level QTL 1] | - | ||
| ?Avascular necrosis of femoral head, primary, 2 | AD | ||
| Scapuloperoneal spinal muscular atrophy | AD | ||
| Parastremmatic dwarfism | AD | ||
| Hereditary motor and sensory neuropathy, type IIc | AD | ||
| Digital arthropathy-brachydactyly, familial | AD | ||
| TSC1 | 605284 | Lymphangioleiomyomatosis | - |
| Focal cortical dysplasia, type II, somatic | - | ||
| Tuberous sclerosis-1 | AD | ||
| TSC2 | 191092 | ?Focal cortical dysplasia, type II, somatic | - |
| Lymphangioleiomyomatosis, somatic | - | ||
| Tuberous sclerosis-2 | AD | ||
| TSFM | 604723 | Combined oxidative phosphorylation deficiency 3 | AR |
| TSHB | 188540 | Hypothyroidism, congenital, nongoitrous 4 | AR |
| TSHR | 603372 | Hyperthyroidism, nonautoimmune | AD |
| Hypothyroidism, congenital, nongoitrous, 1 | AR | ||
| Hyperthyroidism, familial gestational | AD | ||
| TSPYL1 | 604714 | Sudden infant death with dysgenesis of the testes syndrome | AR |
| TTC7A | 609332 | Gastrointestinal defects and immunodeficiency syndrome | AR |
| TTN | 188840 | Cardiomyopathy, dilated, 1G | - |
| Muscular dystrophy, limb-girdle, autosomal recessive 10 | AR | ||
| Tibial muscular dystrophy, tardive | AD | ||
| Myopathy, myofibrillar, 9, with early respiratory failure | AD | ||
| Salih myopathy | AR | ||
| Cardiomyopathy, familial hypertrophic, 9 | AD | ||
| TUBA8 | 605742 | Macrothrombocytopenia, isolated, 2, autosomal dominant | - |
| Cortical dysplasia, complex, with other brain malformations 8 | AR | ||
| TUBB1 | 612901 | Macrothrombocytopenia, autosomal dominant, TUBB1-related | AD |
| TUBB2A | 615101 | Cortical dysplasia, complex, with other brain malformations 5 | AD |
| TWNK | 606075 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 | AD |
| Perrault syndrome 5 | AR | ||
| Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) | AR | ||
| UBA1 | 314370 | VEXAS syndrome, somatic | - |
| Spinal muscular atrophy, X-linked 2, infantile | XLR | ||
| UBR1 | 605981 | Johanson-Blizzard syndrome | AR |
| UGT1A1 | 191740 | [Gilbert syndrome] | AR |
| Crigler-Najjar syndrome, type II | AR | ||
| Crigler-Najjar syndrome, type I | AR | ||
| Hyperbilirubinemia, familial transient neonatal | AD, AR | ||
| [Bilirubin, serum level of, QTL1] | - | ||
| UMPS | 613891 | Orotic aciduria | AR |
| UNG | 191525 | Immunodeficiency with hyper IgM, type 5 | AR |
| UPB1 | 606673 | Beta-ureidopropionase deficiency | AR |
| UQCRC2 | 191329 | Mitochondrial complex III deficiency, nuclear type 5 | AR |
| UROD | 613521 | Porphyria, hepatoerythropoietic | AD, AR |
| Porphyria cutanea tarda | AD, AR | ||
| UROS | 606938 | Porphyria, congenital erythropoietic | AR |
| WAS | 300392 | Wiskott-Aldrich syndrome | XLR |
| Thrombocytopenia, X-linked | XLR | ||
| Neutropenia, severe congenital, X-linked | XLR | ||
| Thrombocytopenia, X-linked, intermittent | XLR | ||
| WDPCP | 613580 | Congenital heart defects, hamartomas of tongue, and polysyndactyly | AR |
| ?Bardet-Biedl syndrome 15 | AR | ||
| WDR62 | 613583 | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | AR |
| WDR73 | 616144 | Galloway-Mowat syndrome 1 | AR |
| WFS1 | 606201 | ?Cataract 41 | AD |
| Wolfram-like syndrome, autosomal dominant | AD | ||
| Wolfram syndrome 1 | AR | ||
| Diabetes mellitus, noninsulin-dependent, association with | AD | ||
| Deafness, autosomal dominant 6/14/38 | AD | ||
| WNK1 | 605232 | Neuropathy, hereditary sensory and autonomic, type II | AR |
| Pseudohypoaldosteronism, type IIC | AD | ||
| WT1 | 607102 | Denys-Drash syndrome | AD, SM |
| Mesothelioma, somatic | - | ||
| Frasier syndrome | AD, SM | ||
| Meacham syndrome | AD | ||
| Wilms tumor, type 1 | AD, SM | ||
| Nephrotic syndrome, type 4 | AD | ||
| ZAP70 | 176947 | Autoimmune disease, multisystem, infantile-onset, 2 | AR |
| Immunodeficiency 48 | AR | ||
| ZEB2 | 605802 | Mowat-Wilson syndrome | AD |
| ZFP57 | 612192 | Diabetes mellitus, transient neonatal 1 | AD |
| ZNF423 | 604557 | Joubert syndrome 19 | AD, AR |
| Nephronophthisis 14 | AD, AR |
COMMON SYNDROMES AND DISORDERS COVERED
- Alagille syndrome
- Alpha-Thalassemia
- Arginase deficiency
- Beta-Thalassemia
- Biotinidase deficiency
- Biotin-thiamine-responsive basal ganglia disease
- Carnitine deficiency
- Congenital hypothyroidism
- Cystic Fibrosis
- Dystonia DOPA responsive
- Factor VII deficiency
- Glucose transporter 1 deficiency
- Glutaric acidemia Type 1
- Hereditary fructose intolerance
- Holocarboxylase synthetase deficiency
- Maple syrup urine disease (MSUD)
- Non ketotic hyperglicinemia
- Phenylketonuria
- Pompe disease
- Primary coenzyme Q10 deficiency
- Pyridoxamine 5 phosphate oxidase deficiency
- Pyridoxine-dependent epilepsy
- Pyruvate carboxylase deficiency
- Tuberous sclerosis complex
- Tyrosinemia type I
- VLCAD deficiency
*List does not include all disorders covered by our panel
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Because life begins today
CentoIEM
Inborn Errors of Metabolism (IEM) largely impact human diseases. CentoIEM is a metabolic and liver disease gene panel that screens for an array of different disorders and contains genes responsible for diverse phenotypes, including intermediary metabolism, such as aminoacidopathies, organic acidurias, urea cycle disorders, sugar intolerance, mental disorders, and porphyrias, among others. Genes linked to cytoplasmic and mitochondrial energetic processes and metabolism affecting cellular organelles, such as lysosomal, peroxisomal, glycosylation, and cholesterol synthesis are also included.
| No. of genes: | 744 |
|---|---|
| TAT: | 25 business days |
| Coverage: | ≥99.00% ≥20x |
| Details: |
NGS including CNV analysis
|
| Gene | OMIM (Gene) | Associated diseases (OMIM) | Inheritance |
|---|---|---|---|
| AARS2 | 612035 | Combined oxidative phosphorylation deficiency 8 | AR |
| Leukoencephalopathy, progressive, with ovarian failure | AR | ||
| ABCA1 | 600046 | HDL deficiency, familial, 1 | AD |
| Tangier disease | AR | ||
| ABCB4 | 171060 | Gallbladder disease 1 | AD, AR |
| Cholestasis, progressive familial intrahepatic 3 | AR | ||
| Cholestasis, intrahepatic, of pregnancy, 3 | AD, AR | ||
| ABCC2 | 601107 | Dubin-Johnson syndrome | AR |
| ABCC8 | 600509 | Diabetes mellitus, transient neonatal 2 | - |
| Diabetes mellitus, noninsulin-dependent | AD | ||
| Hyperinsulinemic hypoglycemia, familial, 1 | AD, AR | ||
| Hypoglycemia of infancy, leucine-sensitive | AD | ||
| Diabetes mellitus, permanent neonatal 3, with or without neurologic features | AD, AR | ||
| ABCD1 | 300371 | Adrenoleukodystrophy | XLR |
| Adrenomyeloneuropathy, adult | XLR | ||
| ABCD4 | 603214 | Methylmalonic aciduria and homocystinuria, cblJ type | AR |
| ABCG5 | 605459 | Sitosterolemia 2 | AR |
| ABCG8 | 605460 | Gallbladder disease 4 | - |
| Sitosterolemia 1 | AR | ||
| ACAD8 | 604773 | Isobutyryl-CoA dehydrogenase deficiency | AR |
| ACAD9 | 611103 | Mitochondrial complex I deficiency, nuclear type 20 | AR |
| ACADM | 607008 | Acyl-CoA dehydrogenase, medium chain, deficiency of | AR |
| ACADS | 606885 | Acyl-CoA dehydrogenase, short-chain, deficiency of | AR |
| ACADSB | 600301 | 2-methylbutyrylglycinuria | AR |
| ACADVL | 609575 | VLCAD deficiency | AR |
| ACAT1 | 607809 | Alpha-methylacetoacetic aciduria | AR |
| ACOX1 | 609751 | Peroxisomal acyl-CoA oxidase deficiency | AR |
| Mitchell syndrome | AD | ||
| ACSF3 | 614245 | Combined malonic and methylmalonic aciduria | - |
| ACY1 | 104620 | Aminoacylase 1 deficiency | AR |
| ADA | 608958 | Adenosine deaminase deficiency, partial | AR, Somatic mosaicism |
| Severe combined immunodeficiency due to ADA deficiency | AR, Somatic mosaicism | ||
| ADAMTS10 | 608990 | Weill-Marchesani syndrome 1, recessive | AR |
| ADAMTSL2 | 612277 | Geleophysic dysplasia 1 | AR |
| ADAR | 146920 | Aicardi-Goutieres syndrome 6 | AR |
| Dyschromatosis symmetrica hereditaria | AD | ||
| ADGRG1 | 604110 | Polymicrogyria, bilateral perisylvian | - |
| Polymicrogyria, bilateral frontoparietal | AR | ||
| ADK | 102750 | Hypermethioninemia due to adenosine kinase deficiency | AR |
| ADSL | 608222 | Adenylosuccinase deficiency | AR |
| AFG3L2 | 604581 | Spinocerebellar ataxia 28 | AD |
| Spastic ataxia 5, autosomal recessive | AR | ||
| Optic atrophy 12 | AD | ||
| AGA | 613228 | Aspartylglucosaminuria | AR |
| AGL | 610860 | Glycogen storage disease IIIb | AR |
| Glycogen storage disease IIIa | AR | ||
| AGPAT2 | 603100 | Lipodystrophy, congenital generalized, type 1 | AR |
| AGPS | 603051 | Rhizomelic chondrodysplasia punctata, type 3 | AR |
| AGXT | 604285 | Hyperoxaluria, primary, type 1 | AR |
| AHCY | 180960 | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase | AR |
| AIFM1 | 300169 | Cowchock syndrome | XLR |
| Combined oxidative phosphorylation deficiency 6 | XLR | ||
| Deafness, X-linked 5 | XLR | ||
| Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy | XLR | ||
| AIMP1 | 603605 | Leukodystrophy, hypomyelinating, 3 | AR |
| AIMP2 | 600859 | Leukodystrophy, hypomyelinating, 17 | AR |
| AKT2 | 164731 | Diabetes mellitus, type II | AD |
| Hypoinsulinemic hypoglycemia with hemihypertrophy | AD | ||
| AKT3 | 611223 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 | AD |
| ALAD | 125270 | Porphyria, acute hepatic | AR |
| Lead poisoning, susceptibility to | AR | ||
| ALAS2 | 301300 | Protoporphyria, erythropoietic, X-linked | XL |
| Anemia, sideroblastic, 1 | XLR | ||
| ALDH18A1 | 138250 | Cutis laxa, autosomal dominant 3 | AD |
| Cutis laxa, autosomal recessive, type IIIA | AR | ||
| Spastic paraplegia 9B, autosomal recessive | AR | ||
| Spastic paraplegia 9A, autosomal dominant | AD | ||
| ALDH3A2 | 609523 | Sjogren-Larsson syndrome | AR |
| ALDH4A1 | 606811 | Hyperprolinemia, type II | AR |
| ALDH5A1 | 610045 | Succinic semialdehyde dehydrogenase deficiency | AR |
| ALDH7A1 | 107323 | Epilepsy, pyridoxine-dependent | AR |
| ALDOA | 103850 | Glycogen storage disease XII | AR |
| ALDOB | 612724 | Fructose intolerance, hereditary | AR |
| ALG1 | 605907 | Congenital disorder of glycosylation, type Ik | AR |
| ALG11 | 613666 | Congenital disorder of glycosylation, type Ip | AR |
| ALG12 | 607144 | Congenital disorder of glycosylation, type Ig | AR |
| ALG13 | 300776 | ?Congenital disorder of glycosylation, type Is | XL |
| Developmental and epileptic encephalopathy 36 | XL | ||
| ALG2 | 607905 | ?Congenital disorder of glycosylation, type Ii | AR |
| Myasthenic syndrome, congenital, 14, with tubular aggregates | AR | ||
| ALG3 | 608750 | Congenital disorder of glycosylation, type Id | AR |
| ALG6 | 604566 | Congenital disorder of glycosylation, type Ic | AR |
| ALG8 | - | Polycystic liver disease 3 with or without kidney cysts | AD |
| Congenital disorder of glycosylation, type Ih | AR | ||
| ALG9 | 606941 | Congenital disorder of glycosylation, type Il | AR |
| Gillessen-Kaesbach-Nishimura syndrome | AR | ||
| ALPL | 171760 | Hypophosphatasia, infantile | AR |
| Odontohypophosphatasia | AD, AR | ||
| Hypophosphatasia, childhood | AR | ||
| Hypophosphatasia, adult | AD, AR | ||
| ALS2 | 606352 | Amyotrophic lateral sclerosis 2, juvenile | AR |
| Spastic paralysis, infantile onset ascending | AR | ||
| Primary lateral sclerosis, juvenile | AR | ||
| AMN | 605799 | Imerslund-Grasbeck syndrome 2 | AR |
| AMPD2 | 102771 | ?Spastic paraplegia 63 | AR |
| Pontocerebellar hypoplasia, type 9 | AR | ||
| AMT | 238310 | Glycine encephalopathy | AR |
| ANK1 | 612641 | Spherocytosis, type 1 | AD, AR |
| ANTXR2 | - | Hyaline fibromatosis syndrome | AR |
| AP3B1 | 603401 | Hermansky-Pudlak syndrome 2 | AR |
| AP4B1 | 607245 | Spastic paraplegia 47, autosomal recessive | AR |
| AP4E1 | 607244 | Stuttering, familial persistent, 1 | AD |
| Spastic paraplegia 51, autosomal recessive | AR | ||
| AP4M1 | 602296 | Spastic paraplegia 50, autosomal recessive | AR |
| AP4S1 | 607243 | Spastic paraplegia 52, autosomal recessive | AR |
| AP5Z1 | 613653 | Spastic paraplegia 48, autosomal recessive | AR |
| APOA2 | 107670 | Hypercholesterolemia, familial, modifier of | AD, AR |
| APOA5 | 606368 | Hyperchylomicronemia, late-onset | AD |
| Hypertriglyceridemia, susceptibility to | AD | ||
| APOB | 107730 | Hypobetalipoproteinemia | AR |
| Hypercholesterolemia, familial, 2 | AD | ||
| APOC2 | - | Hyperlipoproteinemia, type Ib | AR |
| APOE | 107741 | Sea-blue histiocyte disease | AR |
| Lipoprotein glomerulopathy | - | ||
| ?Alzheimer disease, protection against, due to APOE3-Christchurch | AD | ||
| Hyperlipoproteinemia, type III | - | ||
| Coronary artery disease, severe, susceptibility to | - | ||
| ?Macular degeneration, age-related | AD | ||
| Alzheimer disease 2 | AD | ||
| APP | 104760 | Alzheimer disease 1, familial | AD |
| Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants | AD | ||
| APPL1 | 604299 | Maturity-onset diabetes of the young, type 14 | AD |
| APTX | 606350 | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | AR |
| AQP2 | 107777 | Diabetes insipidus, nephrogenic | AD, AR |
| ARG1 | 608313 | Argininemia | AR |
| ARL6IP1 | 607669 | ?Spastic paraplegia 61, autosomal recessive | AR |
| ARSA | 607574 | Metachromatic leukodystrophy | AR |
| ARSB | 611542 | Mucopolysaccharidosis type VI (Maroteaux-Lamy) | AR |
| ASAH1 | 613468 | Spinal muscular atrophy with progressive myoclonic epilepsy | AR |
| Farber lipogranulomatosis | AR | ||
| ASL | 608310 | Argininosuccinic aciduria | AR |
| ASPA | 608034 | Canavan disease | AR |
| ASS1 | 603470 | Citrullinemia | AR |
| ATM | 607585 | Breast cancer, susceptibility to | AD, SM |
| Ataxia-telangiectasia | AR | ||
| ATP13A2 | 610513 | Spastic paraplegia 78, autosomal recessive | AR |
| Kufor-Rakeb syndrome | AR | ||
| ATP6V0A2 | 611716 | Cutis laxa, autosomal recessive, type IIA | AR |
| Wrinkly skin syndrome | AR | ||
| ATP7A | 300011 | Menkes disease | XLR |
| Occipital horn syndrome | XLR | ||
| Spinal muscular atrophy, distal, X-linked 3 | XLR | ||
| ATP7B | 606882 | Wilson disease | AR |
| ATPAF2 | 608918 | ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 | AR |
| ATRX | 300032 | Mental retardation-hypotonic facies syndrome, X-linked | XLR |
| Alpha-thalassemia/mental retardation syndrome | XLD | ||
| Alpha-thalassemia myelodysplasia syndrome, somatic | - | ||
| AUH | 600529 | 3-methylglutaconic aciduria, type I | AR |
| AVP | 192340 | Diabetes insipidus, neurohypophyseal | AD |
| AVPR2 | - | Nephrogenic syndrome of inappropriate antidiuresis | XLR |
| Diabetes insipidus, nephrogenic | XLR | ||
| B3GALNT2 | 610194 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11 | AR |
| B4GALNT1 | 601873 | Spastic paraplegia 26, autosomal recessive | AR |
| B4GALT1 | 137060 | Congenital disorder of glycosylation, type IId | AR |
| BCAP31 | 300398 | Deafness, dystonia, and cerebral hypomyelination | XLR |
| BCKDHA | 608348 | Maple syrup urine disease, type Ia | AR |
| BCKDHB | 248611 | Maple syrup urine disease, type Ib | AR |
| BCS1L | 603647 | GRACILE syndrome | AR |
| Bjornstad syndrome | AR | ||
| Mitochondrial complex III deficiency, nuclear type 1 | AR | ||
| BEST1 | 607854 | Macular dystrophy, vitelliform, 2 | AD |
| Retinitis pigmentosa-50 | - | ||
| ?Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2 | AD | ||
| Vitreoretinochoroidopathy | AD | ||
| Bestrophinopathy, autosomal recessive | - | ||
| Retinitis pigmentosa, concentric | - | ||
| BICD2 | 609797 | Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant | AD |
| Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant | AD | ||
| BLK | 191305 | Maturity-onset diabetes of the young, type 11 | AD |
| BMP6 | 112266 | Iron overload, susceptibility to | - |
| BOLA3 | 613183 | Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia | AR |
| BRAT1 | 614506 | Neurodevelopmental disorder with cerebellar atrophy and with or without seizures | AR |
| Rigidity and multifocal seizure syndrome, lethal neonatal | AR | ||
| BSCL2 | 606158 | Lipodystrophy, congenital generalized, type 2 | AR |
| Encephalopathy, progressive, with or without lipodystrophy | AR | ||
| Silver spastic paraplegia syndrome | AD | ||
| Neuropathy, distal hereditary motor, type VC | AD | ||
| BTD | 609019 | Biotinidase deficiency | AR |
| C19orf12 | 614297 | Neurodegeneration with brain iron accumulation 4 | AD, AR |
| ?Spastic paraplegia 43, autosomal recessive | AR | ||
| CA5A | 114761 | Hyperammonemia due to carbonic anhydrase VA deficiency | AR |
| CACNA1D | 114206 | Primary aldosteronism, seizures, and neurologic abnormalities | AD |
| Sinoatrial node dysfunction and deafness | AR | ||
| CAPN1 | 114220 | Spastic paraplegia 76, autosomal recessive | AR |
| CASP10 | 601762 | Autoimmune lymphoproliferative syndrome, type II | AD |
| Gastric cancer, somatic | - | ||
| Lymphoma, non-Hodgkin, somatic | - | ||
| CASP8 | 601763 | Breast cancer, protection against | AD, SM |
| Lung cancer, protection against | AD, SM | ||
| ?Autoimmune lymphoproliferative syndrome, type IIB | AR | ||
| Hepatocellular carcinoma, somatic | - | ||
| CAV1 | 601047 | Pulmonary hypertension, primary, 3 | AD |
| Lipodystrophy, familial partial, type 7 | AD | ||
| ?Lipodystrophy, congenital generalized, type 3 | AR | ||
| CAVIN1 | 603198 | Lipodystrophy, congenital generalized, type 4 | AR |
| CBLIF | 609342 | Intrinsic factor deficiency | AR |
| CBS | 613381 | Thrombosis, hyperhomocysteinemic | AR |
| Homocystinuria, B6-responsive and nonresponsive types | AR | ||
| CCT5 | 610150 | Neuropathy, hereditary sensory, with spastic paraplegia | AR |
| CD320 | 606475 | Methylmalonic aciduria, transient, due to transcobalamin receptor defect | AR |
| CEL | 114840 | Maturity-onset diabetes of the young, type VIII | AD |
| CERS1 | 606919 | ?Epilepsy, progressive myoclonic, 8 | AR |
| CETP | 118470 | Hyperalphalipoproteinemia | AD |
| [High density lipoprotein cholesterol level QTL 10] | AD | ||
| CISD2 | 611507 | Wolfram syndrome 2 | AR |
| CLCN2 | 600570 | Epilepsy, juvenile absence, susceptibility to, 2 | AD |
| Hyperaldosteronism, familial, type II | AD | ||
| Epilepsy, juvenile myoclonic, susceptibility to, 8 | AD | ||
| Epilepsy, idiopathic generalized, susceptibility to, 11 | AD | ||
| Leukoencephalopathy with ataxia | AR | ||
| CLN3 | 607042 | Ceroid lipofuscinosis, neuronal, 3 | AR |
| CLN5 | - | Ceroid lipofuscinosis, neuronal, 5 | AR |
| CLN6 | 606725 | Ceroid lipofuscinosis, neuronal, Kufs type, adult onset | AR |
| Ceroid lipofuscinosis, neuronal, 6 | AR | ||
| CLN8 | 607837 | Ceroid lipofuscinosis, neuronal, 8 | AR |
| Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant | AR | ||
| CLPB | 616254 | 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia | AR |
| 3-methylglutaconic aciduria, type VIIA, autosomal dominant | AD | ||
| Neutropenia, severe congenital, 9, autosomal dominant | AD | ||
| CLPP | 601119 | Perrault syndrome 3 | AR |
| COA7 | 615623 | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 | AR |
| COA8 | 616003 | Mitochondrial complex IV deficiency, nuclear type 17 | AR |
| COASY | 609855 | Neurodegeneration with brain iron accumulation 6 | AR |
| Pontocerebellar hypoplasia, type 12 | AR | ||
| COG1 | 606973 | Congenital disorder of glycosylation, type IIg | AR |
| COG4 | 606976 | Congenital disorder of glycosylation, type IIj | AR |
| Saul-Wilson syndrome | AD | ||
| COG5 | 606821 | Congenital disorder of glycosylation, type IIi | AR |
| COG6 | 606977 | Shaheen syndrome | AR |
| Congenital disorder of glycosylation, type IIl | AR | ||
| COG7 | 606978 | Congenital disorder of glycosylation, type IIe | AR |
| COG8 | 606979 | Congenital disorder of glycosylation, type IIh | - |
| COL11A2 | 120290 | Deafness, autosomal recessive 53 | AR |
| Otospondylomegaepiphyseal dysplasia, autosomal recessive | AR | ||
| Fibrochondrogenesis 2 | AD, AR | ||
| Otospondylomegaepiphyseal dysplasia, autosomal dominant | AD | ||
| Deafness, autosomal dominant 13 | AD | ||
| COL2A1 | 120140 | Legg-Calve-Perthes disease | AD |
| Stickler syndrome, type I | AD | ||
| Osteoarthritis with mild chondrodysplasia | AD | ||
| Platyspondylic skeletal dysplasia, Torrance type | AD | ||
| Spondyloepiphyseal dysplasia, Stanescu type | AD | ||
| Kniest dysplasia | AD | ||
| Czech dysplasia | AD | ||
| Stickler sydrome, type I, nonsyndromic ocular | AD | ||
| ?Vitreoretinopathy with phalangeal epiphyseal dysplasia | AD | ||
| ?Epiphyseal dysplasia, multiple, with myopia and deafness | AD | ||
| Avascular necrosis of the femoral head | AD | ||
| Spondyloperipheral dysplasia | AD | ||
| Achondrogenesis, type II or hypochondrogenesis | AD | ||
| SMED Strudwick type | AD | ||
| SED congenita | AD | ||
| COL4A1 | 120130 | ?Retinal arteries, tortuosity of | AD |
| Hemorrhage, intracerebral, susceptibility to | - | ||
| Microangiopathy and leukoencephalopathy, pontine, autosomal dominant | AD | ||
| Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps | AD | ||
| Brain small vessel disease with or without ocular anomalies | AD | ||
| COL4A2 | 120090 | Hemorrhage, intracerebral, susceptibility to | - |
| Brain small vessel disease 2 | AD | ||
| COLGALT1 | 617531 | Brain small vessel disease 3 | AR |
| COQ2 | 609825 | Coenzyme Q10 deficiency, primary, 1 | AR |
| Multiple system atrophy, susceptibility to | AD, AR | ||
| COQ8A | 606980 | Coenzyme Q10 deficiency, primary, 4 | AR |
| COQ9 | 612837 | Coenzyme Q10 deficiency, primary, 5 | AR |
| COX10 | 602125 | Mitochondrial complex IV deficiency, nuclear type 3 | AR |
| COX15 | 603646 | Mitochondrial complex IV deficiency, nuclear type 6 | AR |
| COX20 | 614698 | Mitochondrial complex IV deficiency, nuclear type 11 | AR |
| COX6B1 | 124089 | Mitochondrial complex IV deficiency, nuclear type 7 | AR |
| CP | 117700 | Cerebellar ataxia | AR |
| Hemosiderosis, systemic, due to aceruloplasminemia | AR | ||
| [Hypoceruloplasminemia, hereditary] | AR | ||
| CPOX | 612732 | Harderoporphyria | AR |
| Coproporphyria | AD, AR | ||
| CPS1 | 608307 | Carbamoylphosphate synthetase I deficiency | AR |
| Pulmonary hypertension, neonatal, susceptibility to | - | ||
| CPT1A | 600528 | CPT deficiency, hepatic, type IA | AR |
| CPT1C | 608846 | ?Spastic paraplegia 73, autosomal dominant | AD |
| CPT2 | 600650 | CPT II deficiency, myopathic, stress-induced | AD, AR |
| CPT II deficiency, infantile | AR | ||
| Encephalopathy, acute, infection-induced, 4, susceptibility to | AD, AR | ||
| CPT II deficiency, lethal neonatal | AR | ||
| CSF1R | 164770 | Brain abnormalities, neurodegeneration, and dysosteosclerosis | AR |
| Leukoencephalopathy, diffuse hereditary, with spheroids | AD | ||
| CTC1 | 613129 | Cerebroretinal microangiopathy with calcifications and cysts | AR |
| CTH | 607657 | Cystathioninuria | AR |
| CTLA4 | 123890 | Systemic lupus erythematosus, susceptibility to | AD |
| Autoimmune lymphoproliferative syndrome, type V | AD | ||
| Celiac disease, susceptibility to, 3 | - | ||
| Hashimoto thyroiditis | AD | ||
| Diabetes mellitus, insulin-dependent, 12 | - | ||
| CTNS | 606272 | Cystinosis, late-onset juvenile or adolescent nephropathic | AR |
| Cystinosis, ocular nonnephropathic | AR | ||
| Cystinosis, nephropathic | AR | ||
| Cystinosis, atypical nephropathic | AR | ||
| CTSA | 613111 | Galactosialidosis | AR |
| CTSC | 602365 | Periodontitis 1, juvenile | AR |
| Haim-Munk syndrome | AR | ||
| Papillon-Lefevre syndrome | AR | ||
| CTSD | 116840 | Ceroid lipofuscinosis, neuronal, 10 | AR |
| CTSF | 603539 | Ceroid lipofuscinosis, neuronal, 13, Kufs type | AR |
| CTSK | 601105 | Pycnodysostosis | AR |
| CUBN | 602997 | [Proteinuria, chronic benign] | AR |
| Imerslund-Grasbeck syndrome 1 | AR | ||
| CYP11B1 | 610613 | Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency | AR |
| Aldosteronism, glucocorticoid-remediable | AD | ||
| CYP17A1 | 609300 | 17, 20-lyase deficiency, isolated | AR |
| 17-alpha-hydroxylase/17, 20-lyase deficiency | AR | ||
| CYP19A1 | 107910 | Aromatase excess syndrome | AD |
| Aromatase deficiency | - | ||
| CYP27A1 | 606530 | Cerebrotendinous xanthomatosis | AR |
| CYP2U1 | 610670 | Spastic paraplegia 56, autosomal recessive | AR |
| CYP7B1 | 603711 | Spastic paraplegia 5A, autosomal recessive | AR |
| Bile acid synthesis defect, congenital, 3 | AR | ||
| D2HGDH | 609186 | D-2-hydroxyglutaric aciduria | AR |
| DAG1 | 128239 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 | AR |
| Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9 | AR | ||
| DARS1 | 603084 | Hypomyelination with brainstem and spinal cord involvement and leg spasticity | AR |
| DARS2 | 610956 | Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation | AR |
| DBT | 248610 | Maple syrup urine disease, type II | AR |
| DCAF17 | 612515 | Woodhouse-Sakati syndrome | AR |
| DDC | 107930 | Aromatic L-amino acid decarboxylase deficiency | AR |
| DDHD1 | 614603 | Spastic paraplegia 28, autosomal recessive | AR |
| DDHD2 | 615003 | Spastic paraplegia 54, autosomal recessive | AR |
| DDOST | 602202 | ?Congenital disorder of glycosylation, type Ir | AR |
| DGUOK | - | Portal hypertension, noncirrhotic | AR |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 | AR | ||
| Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | AR | ||
| DHCR7 | 602858 | Smith-Lemli-Opitz syndrome | AR |
| DHDDS | 608172 | Developmental delay and seizures with or without movement abnormalities | AD |
| Retinitis pigmentosa 59 | AR | ||
| ?Congenital disorder of glycosylation, type 1bb | AR | ||
| DIABLO | 605219 | Deafness, autosomal dominant 64 | AD |
| DKC1 | 300126 | Dyskeratosis congenita, X-linked | XLR |
| DLAT | 608770 | Pyruvate dehydrogenase E2 deficiency | AR |
| DLD | 238331 | Dihydrolipoamide dehydrogenase deficiency | AR |
| DLL3 | 602768 | Spondylocostal dysostosis 1, autosomal recessive | AR |
| DNAJC5 | 611203 | Ceroid lipofuscinosis, neuronal, 4, Parry type | AD |
| DNM1L | 603850 | Optic atrophy 5 | AD |
| Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 | AD, AR | ||
| DOLK | 610746 | Congenital disorder of glycosylation, type Im | AR |
| DPM1 | 603503 | Congenital disorder of glycosylation, type Ie | AR |
| DPM2 | 603564 | Congenital disorder of glycosylation, type Iu | AR |
| DPM3 | 605951 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 | AR |
| ?Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 | AR | ||
| DPYD | 612779 | 5-fluorouracil toxicity | AR |
| Dihydropyrimidine dehydrogenase deficiency | AR | ||
| DSTYK | 612666 | Spastic paraplegia 23 | AR |
| Congenital anomalies of kidney and urinary tract 1 | AD | ||
| DYM | 607461 | Dyggve-Melchior-Clausen disease | AR |
| Smith-McCort dysplasia | AR | ||
| EARS2 | 612799 | Combined oxidative phosphorylation deficiency 12 | AR |
| ECHS1 | 602292 | Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency | AR |
| EIF2AK3 | 604032 | Wolcott-Rallison syndrome | AR |
| EIF2B1 | 606686 | Leukoencephalopathy with vanishing white matter | AR |
| EIF2B2 | 606454 | Ovarioleukodystrophy | AR |
| Leukoencephalopathy with vanishing white matter | AR | ||
| EIF2B3 | 606273 | Leukoencephalopathy with vanishing white matter | AR |
| EIF2B4 | 606687 | Ovarioleukodystrophy | AR |
| Leukoencephalopathy with vanishing white matter | AR | ||
| EIF2B5 | 603945 | Ovarioleukodystrophy | AR |
| Leukoencephalopathy with vanishing white matter | AR | ||
| EIF2S3 | 300161 | MEHMO syndrome | XLR |
| ENO3 | 131370 | ?Glycogen storage disease XIII | AR |
| ENPP1 | 173335 | Arterial calcification, generalized, of infancy, 1 | AR |
| Obesity, susceptibility to | AD, AR, MF | ||
| Hypophosphatemic rickets, autosomal recessive, 2 | AR | ||
| Cole disease | AD | ||
| Diabetes mellitus, non-insulin-dependent, susceptibility to | AD | ||
| ENTPD1 | 601752 | Spastic paraplegia 64, autosomal recessive | AR |
| EPB42 | 177070 | Spherocytosis, type 5 | - |
| EPHX2 | 132811 | Hypercholesterolemia, familial, due to LDLR defect, modifier of | AD, AR |
| EPM2A | 607566 | Epilepsy, progressive myoclonic 2A (Lafora) | AR |
| EPRS1 | 138295 | Leukodystrophy, hypomyelinating, 15 | AR |
| ERCC6 | 609413 | Lung cancer, susceptibility to | AD, SM |
| UV-sensitive syndrome 1 | AR | ||
| Premature ovarian failure 11 | AD | ||
| Macular degeneration, age-related, susceptibility to, 5 | - | ||
| Cockayne syndrome, type B | AR | ||
| De Sanctis-Cacchione syndrome | AR | ||
| Cerebrooculofacioskeletal syndrome 1 | AR | ||
| ERCC8 | 609412 | Cockayne syndrome, type A | AR |
| UV-sensitive syndrome 2 | AR | ||
| ERLIN1 | 611604 | Spastic paraplegia 62 | AR |
| ERLIN2 | 611605 | Spastic paraplegia 18, autosomal recessive | AR |
| ETFA | - | Glutaric acidemia IIA | AR |
| ETFB | 130410 | Glutaric acidemia IIB | AR |
| ETFDH | 231675 | Glutaric acidemia IIC | AR |
| ETHE1 | 608451 | Ethylmalonic encephalopathy | AR |
| EXOSC3 | 606489 | Pontocerebellar hypoplasia, type 1B | AR |
| F2 | 176930 | Dysprothrombinemia | AR |
| Stroke, ischemic, susceptibility to | MF | ||
| Pregnancy loss, recurrent, susceptibility to, 2 | AD | ||
| Hypoprothrombinemia | AR | ||
| Thrombophilia due to thrombin defect | AD | ||
| F5 | 612309 | Pregnancy loss, recurrent, susceptibility to, 1 | AD |
| Factor V deficiency | AR | ||
| Stroke, ischemic, susceptibility to | MF | ||
| Budd-Chiari syndrome | AR | ||
| Thrombophilia, susceptibility to, due to factor V Leiden | AD | ||
| Thrombophilia due to activated protein C resistance | AD | ||
| FA2H | 611026 | Spastic paraplegia 35, autosomal recessive | AR |
| FADD | 602457 | Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations | AR |
| FAH | 613871 | Tyrosinemia, type I | AR |
| FAM126A | 610531 | Leukodystrophy, hypomyelinating, 5 | AR |
| FARS2 | 611592 | Combined oxidative phosphorylation deficiency 14 | AR |
| Spastic paraplegia 77, autosomal recessive | AR | ||
| FARSB | 609690 | Rajab interstitial lung disease with brain calcifications 1 | AR |
| FAS | 134637 | Autoimmune lymphoproliferative syndrome, type IA | AD |
| Autoimmune lymphoproliferative syndrome | AD | ||
| FASLG | 134638 | Autoimmune lymphoproliferative syndrome, type IB | AD |
| Lung cancer, susceptibility to | AD, SM | ||
| FASTKD2 | 612322 | Combined oxidative phosphorylation deficiency 44 | AR |
| FBN1 | 134797 | Marfan lipodystrophy syndrome | AD |
| Geleophysic dysplasia 2 | AD | ||
| Acromicric dysplasia | AD | ||
| Marfan syndrome | AD | ||
| Weill-Marchesani syndrome 2, dominant | AD | ||
| Stiff skin syndrome | AD | ||
| MASS syndrome | AD | ||
| Ectopia lentis, familial | AD | ||
| FBP1 | 611570 | Fructose-1, 6-bisphosphatase deficiency | AR |
| FBXL4 | 605654 | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) | AR |
| FDX2 | 614585 | Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy | AR |
| FECH | 612386 | Protoporphyria, erythropoietic, 1 | AR |
| FGF23 | 605380 | Tumoral calcinosis, hyperphosphatemic, familial, 2 | AR |
| Hypophosphatemic rickets, autosomal dominant | AD | ||
| FH | 136850 | Fumarase deficiency | AR |
| Leiomyomatosis and renal cell cancer | AD | ||
| FHL1 | 300163 | Reducing body myopathy, X-linked 1b, with late childhood or adult onset | XL |
| Scapuloperoneal myopathy, X-linked dominant | XLD | ||
| ?Uruguay faciocardiomusculoskeletal syndrome | XLR | ||
| Myopathy, X-linked, with postural muscle atrophy | XLR | ||
| Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset | XLD | ||
| Emery-Dreifuss muscular dystrophy 6, X-linked | XLR | ||
| FLAD1 | 610595 | Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency | AR |
| FOLR1 | 136430 | Neurodegeneration due to cerebral folate transport deficiency | AR |
| FOXP3 | 300292 | Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked | XLR |
| FOXRED1 | 613622 | Mitochondrial complex I deficiency, nuclear type 19 | AR |
| FTL | 134790 | Neurodegeneration with brain iron accumulation 3 | AD |
| Hyperferritinemia-cataract syndrome | AD | ||
| L-ferritin deficiency, dominant and recessive | AD, AR | ||
| FUCA1 | 612280 | Fucosidosis | AR |
| G6PC1 | 613742 | Glycogen storage disease Ia | AR |
| G6PD | 305900 | Resistance to malaria due to G6PD deficiency | - |
| Hemolytic anemia, G6PD deficient (favism) | XLD | ||
| GAA | 606800 | Glycogen storage disease II | AR |
| GABRB2 | 600232 | Epileptic encephalopathy, infantile or early childhood, 2 | AD |
| GALC | 606890 | Krabbe disease | AR |
| GALE | 606953 | Galactose epimerase deficiency | AR |
| GALK1 | 604313 | Galactokinase deficiency with cataracts | AR |
| GALNS | 612222 | Mucopolysaccharidosis IVA | AR |
| GALT | 606999 | Galactosemia | AR |
| GAMT | 601240 | Cerebral creatine deficiency syndrome 2 | AR |
| GAN | 605379 | Giant axonal neuropathy-1 | AR |
| GATA4 | 600576 | Atrioventricular septal defect 4 | AD |
| ?Testicular anomalies with or without congenital heart disease | AD | ||
| Ventricular septal defect 1 | AD | ||
| Tetralogy of Fallot | AD | ||
| Atrial septal defect 2 | AD | ||
| GATA6 | 601656 | Persistent truncus arteriosus | - |
| Atrioventricular septal defect 5 | AD | ||
| Tetralogy of Fallot | AD | ||
| Atrial septal defect 9 | AD | ||
| Pancreatic agenesis and congenital heart defects | AD | ||
| GATM | 602360 | Cerebral creatine deficiency syndrome 3 | AR |
| Fanconi renotubular syndrome 1 | AD | ||
| GBA | 606463 | Lewy body dementia, susceptibility to | AD |
| Gaucher disease, type IIIC | AR | ||
| Parkinson disease, late-onset, susceptibility to | AD, MF | ||
| Gaucher disease, type II | AR | ||
| Gaucher disease, type III | AR | ||
| Gaucher disease, perinatal lethal | AR | ||
| Gaucher disease, type I | AR | ||
| GBA2 | 609471 | Spastic paraplegia 46, autosomal recessive | AR |
| GBE1 | 607839 | Glycogen storage disease IV | AR |
| Polyglucosan body disease, adult form | AR | ||
| GCDH | 608801 | Glutaricaciduria, type I | AR |
| GCK | 138079 | Diabetes mellitus, permanent neonatal 1 | AR |
| Diabetes mellitus, noninsulin-dependent, late onset | AD | ||
| Hyperinsulinemic hypoglycemia, familial, 3 | AD | ||
| MODY, type II | AD | ||
| GCSH | 238330 | ?Glycine encephalopathy | AR |
| GFAP | 137780 | Alexander disease | AD |
| GFER | 600924 | Myopathy, mitochondrial progressive, with congenital cataract and developmental delay | AR |
| GFM1 | 606639 | Combined oxidative phosphorylation deficiency 1 | AR |
| GFM2 | 606544 | Combined oxidative phosphorylation deficiency 39 | AR |
| GFPT1 | 138292 | Myasthenia, congenital, 12, with tubular aggregates | AR |
| GHR | 600946 | Hypercholesterolemia, familial, modifier of | AD, AR |
| Laron dwarfism | AR | ||
| Growth hormone insensitivity, partial | AD | ||
| Increased responsiveness to growth hormone | AD | ||
| GJA1 | 121014 | Oculodentodigital dysplasia, autosomal recessive | AR |
| Atrioventricular septal defect 3 | AD | ||
| Syndactyly, type III | AD | ||
| Craniometaphyseal dysplasia, autosomal recessive | AR | ||
| Palmoplantar keratoderma with congenital alopecia | AD | ||
| Oculodentodigital dysplasia | AD | ||
| Hypoplastic left heart syndrome 1 | AR | ||
| Erythrokeratodermia variabilis et progressiva 3 | AD | ||
| GJB1 | 304040 | Charcot-Marie-Tooth neuropathy, X-linked dominant, 1 | XLD |
| GJC2 | 608803 | Leukodystrophy, hypomyelinating, 2 | AR |
| Spastic paraplegia 44, autosomal recessive | AR | ||
| Lymphatic malformation 3 | AD | ||
| GK | - | Glycerol kinase deficiency | XLR |
| GLA | 300644 | Fabry disease | XL |
| Fabry disease, cardiac variant | XL | ||
| GLB1 | 611458 | GM1-gangliosidosis, type II | AR |
| GM1-gangliosidosis, type I | AR | ||
| Mucopolysaccharidosis type IVB (Morquio) | AR | ||
| GM1-gangliosidosis, type III | AR | ||
| GLDC | 238300 | Glycine encephalopathy | AR |
| GLIS3 | 610192 | Diabetes mellitus, neonatal, with congenital hypothyroidism | AR |
| GLRX5 | 609588 | Spasticity, childhood-onset, with hyperglycinemia | AR |
| Anemia, sideroblastic, 3, pyridoxine-refractory | AR | ||
| GLUD1 | 138130 | Hyperinsulinism-hyperammonemia syndrome | AD |
| GLUL | 138290 | Glutamine deficiency, congenital | AR |
| GM2A | 613109 | GM2-gangliosidosis, AB variant | AR |
| GMPPA | 615495 | Alacrima, achalasia, and mental retardation syndrome | AR |
| GNE | 603824 | Nonaka myopathy | AR |
| Sialuria | AD | ||
| GNMT | 606628 | Glycine N-methyltransferase deficiency | AR |
| GNPAT | 602744 | Rhizomelic chondrodysplasia punctata, type 2 | AR |
| GNPTAB | 607840 | Mucolipidosis III alpha/beta | AR |
| Mucolipidosis II alpha/beta | AR | ||
| GNPTG | 607838 | Mucolipidosis III gamma | AR |
| GNS | 607664 | Mucopolysaccharidosis type IIID | AR |
| GOSR2 | 604027 | Epilepsy, progressive myoclonic 6 | AR |
| Muscular dystrophy, congenital, with or without seizures | - | ||
| GPC3 | 300037 | Simpson-Golabi-Behmel syndrome, type 1 | XLR |
| Wilms tumor, somatic | - | ||
| GRN | 138945 | Ceroid lipofuscinosis, neuronal, 11 | AR |
| Frontotemporal lobar degeneration with ubiquitin-positive inclusions | AD | ||
| Aphasia, primary progressive | AD | ||
| GTPBP2 | 607434 | Jaberi-Elahi syndrome | AR |
| GTPBP3 | 608536 | Combined oxidative phosphorylation deficiency 23 | AR |
| GUSB | 611499 | Mucopolysaccharidosis VII | AR |
| GYG1 | 603942 | Polyglucosan body myopathy 2 | AR |
| ?Glycogen storage disease XV | AR | ||
| GYS1 | 138570 | Glycogen storage disease 0, muscle | AR |
| GYS2 | 138571 | Glycogen storage disease 0, liver | AR |
| HACE1 | 610876 | Spastic paraplegia and psychomotor retardation with or without seizures | AR |
| HADH | 601609 | 3-hydroxyacyl-CoA dehydrogenase deficiency | AR |
| Hyperinsulinemic hypoglycemia, familial, 4 | AR | ||
| HADHA | 600890 | HELLP syndrome, maternal, of pregnancy | AR |
| LCHAD deficiency | AR | ||
| Fatty liver, acute, of pregnancy | AR | ||
| Mitochondrial trifunctional protein deficiency | AR | ||
| HADHB | 143450 | Trifunctional protein deficiency | AR |
| HAMP | 606464 | Hemochromatosis, type 2B | AR |
| HCFC1 | 300019 | Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ) | XLR |
| HEPACAM | 611642 | Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation | AD |
| Megalencephalic leukoencephalopathy with subcortical cysts 2A | AR | ||
| HEXA | 606869 | Tay-Sachs disease | AR |
| [Hex A pseudodeficiency] | AR | ||
| GM2-gangliosidosis, several forms | AR | ||
| HEXB | 606873 | Sandhoff disease, infantile, juvenile, and adult forms | AR |
| HFE | 613609 | Porphyria variegata, susceptibility to | AD |
| Alzheimer disease, susceptibility to | AD | ||
| Hemochromatosis | AR | ||
| [Transferrin serum level QTL2] | - | ||
| Porphyria cutanea tarda, susceptibility to | AD, AR | ||
| Microvascular complications of diabetes 7 | - | ||
| HGD | 607474 | Alkaptonuria | AR |
| HGSNAT | 610453 | Mucopolysaccharidosis type IIIC (Sanfilippo C) | AR |
| Retinitis pigmentosa 73 | AR | ||
| HIBCH | 610690 | 3-hydroxyisobutryl-CoA hydrolase deficiency | AR |
| HIKESHI | 614908 | Leukodystrophy, hypomyelinating, 13 | AR |
| HJV | 608374 | Hemochromatosis, type 2A | AR |
| HK1 | 142600 | Retinitis pigmentosa 79 | AD |
| Hemolytic anemia due to hexokinase deficiency | AR | ||
| Neurodevelopmental disorder with visual defects and brain anomalies | AD | ||
| Neuropathy, hereditary motor and sensory, Russe type | AR | ||
| HLCS | 609018 | Holocarboxylase synthetase deficiency | AR |
| HMBS | 609806 | Porphyria, acute intermittent | AD |
| Porphyria, acute intermittent, nonerythroid variant | AD | ||
| HMGCL | 613898 | HMG-CoA lyase deficiency | AR |
| HMGCS2 | 600234 | HMG-CoA synthase-2 deficiency | AR |
| HNF1A | 142410 | Diabetes mellitus, insulin-dependent | AR |
| Diabetes mellitus, insulin-dependent, 20 | - | ||
| MODY, type III | AD | ||
| Diabetes mellitus, noninsulin-dependent, 2 | AD | ||
| Hepatic adenoma, somatic | - | ||
| Renal cell carcinoma | - | ||
| HNF1B | 189907 | Renal cysts and diabetes syndrome | AD |
| Diabetes mellitus, noninsulin-dependent | AD | ||
| Renal cell carcinoma | - | ||
| HNF4A | 600281 | Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young | AD |
| Diabetes mellitus, noninsulin-dependent | AD | ||
| MODY, type I | AD | ||
| HPD | 609695 | Hawkinsinuria | AD |
| Tyrosinemia, type III | AR | ||
| HPRT1 | 308000 | Hyperuricemia, HRPT-related | XLR |
| Lesch-Nyhan syndrome | XLR | ||
| HRAS | 190020 | Thyroid carcinoma, follicular, somatic | - |
| Spitz nevus or nevus spilus, somatic | - | ||
| Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic | - | ||
| Bladder cancer, somatic | - | ||
| Costello syndrome | AD | ||
| Nevus sebaceous or woolly hair nevus, somatic | - | ||
| Congenital myopathy with excess of muscle spindles | AD | ||
| HSD17B10 | 300256 | HSD10 mitochondrial disease | XLD |
| HSD17B4 | 601860 | Perrault syndrome 1 | AR |
| D-bifunctional protein deficiency | AR | ||
| HSD3B2 | 613890 | Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency | AR |
| HSPD1 | 118190 | Leukodystrophy, hypomyelinating, 4 | AR |
| Spastic paraplegia 13, autosomal dominant | AD | ||
| HTRA1 | 602194 | Macular degeneration, age-related, 7 | - |
| CARASIL syndrome | AR | ||
| Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 | AD | ||
| Macular degeneration, age-related, neovascular type | - | ||
| HYAL1 | 607071 | ?Mucopolysaccharidosis type IX | AR |
| IARS2 | 612801 | ?Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia | AR |
| IBA57 | 615316 | ?Spastic paraplegia 74, autosomal recessive | AR |
| Multiple mitochondrial dysfunctions syndrome 3 | AR | ||
| IDS | 300823 | Mucopolysaccharidosis II | XLR |
| IDUA | 252800 | Mucopolysaccharidosis Is | AR |
| Mucopolysaccharidosis Ih/s | AR | ||
| Mucopolysaccharidosis Ih | AR | ||
| IER3IP1 | 609382 | Microcephaly, epilepsy, and diabetes syndrome | AR |
| IFIH1 | 606951 | Aicardi-Goutieres syndrome 7 | AD |
| Singleton-Merten syndrome 1 | AD | ||
| Immunodeficiency 95 | AR | ||
| IL2RA | 147730 | Diabetes, mellitus, insulin-dependent, susceptibility to, 10 | - |
| Immunodeficiency 41 with lymphoproliferation and autoimmunity | AR | ||
| INS | 176730 | Diabetes mellitus, insulin-dependent, 2 | AD |
| Maturity-onset diabetes of the young, type 10 | AD | ||
| Hyperproinsulinemia | AD | ||
| Diabetes mellitus, permanent neonatal 4 | AD, AR | ||
| INSR | 147670 | Diabetes mellitus, insulin-resistant, with acanthosis nigricans | - |
| Rabson-Mendenhall syndrome | AR | ||
| Hyperinsulinemic hypoglycemia, familial, 5 | AD | ||
| Leprechaunism | AR | ||
| ISCA2 | 615317 | Multiple mitochondrial dysfunctions syndrome 4 | AR |
| ITK | 186973 | Lymphoproliferative syndrome 1 | AR |
| IVD | 607036 | Isovaleric acidemia | AR |
| JAG1 | 601920 | Alagille syndrome 1 | AD |
| Charcot-Marie-Tooth disease, axonal, type 2HH | AD | ||
| ?Deafness, congenital heart defects, and posterior embryotoxon | AD | ||
| Tetralogy of Fallot | AD | ||
| JAM3 | 606871 | Hemorrhagic destruction of the brain, subependymal calcification, and cataracts | AR |
| KCNC1 | 176258 | Epilepsy, progressive myoclonic 7 | AD |
| KCNJ10 | 602208 | Enlarged vestibular aqueduct, digenic | AR |
| SESAME syndrome | AR | ||
| KCNJ11 | 600937 | Maturity-onset diabetes of the young, type 13 | AD |
| Diabetes mellitus, transient neonatal 3 | AD | ||
| Hyperinsulinemic hypoglycemia, familial, 2 | AD, AR | ||
| Diabetes, permanent neonatal 2, with or without neurologic features | AD | ||
| Diabetes mellitus, type 2, susceptibility to | AD | ||
| KCNT1 | 608167 | Developmental and epileptic encephalopathy 14 | AD |
| Epilepsy nocturnal frontal lobe, 5 | AD | ||
| KCTD7 | 611725 | Epilepsy, progressive myoclonic 3, with or without intracellular inclusions | AR |
| KDM6A | 300128 | Kabuki syndrome 2 | XLD |
| KHK | 614058 | [Fructosuria] | AR |
| KIDINS220 | 615759 | Ventriculomegaly and arthrogryposis | AR |
| Spastic paraplegia, intellectual disability, nystagmus, and obesity | AD | ||
| KIF1A | 601255 | NESCAV syndrome | AD |
| Spastic paraplegia 30, autosomal recessive | AD, AR | ||
| Neuropathy, hereditary sensory, type IIC | AR | ||
| Spastic paraplegia 30, autosomal dominant | AD, AR | ||
| KIF1C | 603060 | Spastic ataxia 2, autosomal recessive | AR |
| KIF5A | 602821 | Amyotrophic lateral sclerosis, susceptibility to, 25 | AD |
| Myoclonus, intractable, neonatal | AD | ||
| Spastic paraplegia 10, autosomal dominant | AD | ||
| KLF11 | 603301 | Maturity-onset diabetes of the young, type VII | - |
| KMT2D | 602113 | Kabuki syndrome 1 | AD |
| KRAS | 190070 | Arteriovenous malformation of the brain, somatic | - |
| Gastric cancer, somatic | - | ||
| Oculoectodermal syndrome, somatic | - | ||
| RAS-associated autoimmune leukoproliferative disorder | AD | ||
| Gastric cancer, somatic | - | ||
| Pancreatic carcinoma, somatic | - | ||
| Lung cancer, somatic | - | ||
| Cardiofaciocutaneous syndrome 2 | AD | ||
| Bladder cancer, somatic | - | ||
| Leukemia, acute myeloid, somatic | - | ||
| Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic | - | ||
| Breast cancer, somatic | - | ||
| Noonan syndrome 3 | AD | ||
| L1CAM | 308840 | Hydrocephalus with congenital idiopathic intestinal pseudoobstruction | XLR |
| CRASH syndrome | XLR | ||
| Corpus callosum, partial agenesis of | XLR | ||
| Hydrocephalus with Hirschsprung disease | XLR | ||
| MASA syndrome | XLR | ||
| Hydrocephalus due to aqueductal stenosis | XLR | ||
| L2HGDH | 609584 | L-2-hydroxyglutaric aciduria | AR |
| LAMA2 | 156225 | Muscular dystrophy, congenital, merosin deficient or partially deficient | AR |
| Muscular dystrophy, limb-girdle, autosomal recessive 23 | AR | ||
| LAMB1 | 150240 | Lissencephaly 5 | AR |
| LAMP2 | 309060 | Danon disease | XLD |
| LARGE1 | 603590 | Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 | AR |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 | AR | ||
| LAT | 602354 | Immunodeficiency 52 | AR |
| LCAT | 606967 | Norum disease | AR |
| Fish-eye disease | AR | ||
| LDB3 | 605906 | Cardiomyopathy, hypertrophic, 24 | AD |
| Myopathy, myofibrillar, 4 | AD | ||
| Cardiomyopathy, dilated, 1C, with or without LVNC | AD | ||
| Left ventricular noncompaction 3 | AD | ||
| LDHA | 150000 | Glycogen storage disease XI | AR |
| LDLR | 606945 | LDL cholesterol level QTL2 | AD, AR |
| Hypercholesterolemia, familial, 1 | AD, AR | ||
| LDLRAP1 | 605747 | Hypercholesterolemia, familial, 4 | AR |
| LIAS | 607031 | Hyperglycinemia, lactic acidosis, and seizures | AR |
| LIPA | 613497 | Wolman disease | AR |
| Cholesteryl ester storage disease | AR | ||
| LIPC | 151670 | [High density lipoprotein cholesterol level QTL 12] | - |
| Hepatic lipase deficiency | AR | ||
| Diabetes mellitus, noninsulin-dependent | AD | ||
| LIPE | 151750 | Lipodystrophy, familial partial, type 6 | AR |
| LIPT1 | 610284 | Lipoyltransferase 1 deficiency | AR |
| LIPT2 | 617659 | Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities | AR |
| LMBRD1 | 612625 | Methylmalonic aciduria and homocystinuria, cblF type | AR |
| LMNA | 150330 | Restrictive dermopathy 2 | - |
| Malouf syndrome | AD | ||
| Emery-Dreifuss muscular dystrophy 3, autosomal recessive | AR | ||
| Emery-Dreifuss muscular dystrophy 2, autosomal dominant | AD | ||
| Hutchinson-Gilford progeria | AD | ||
| Muscular dystrophy, congenital | AD | ||
| Restrictive dermopathy, lethal | AR | ||
| Lipodystrophy, familial partial, type 2 | AD | ||
| Charcot-Marie-Tooth disease, type 2B1 | AR | ||
| Mandibuloacral dysplasia | AR | ||
| Cardiomyopathy, dilated, 1A | AD | ||
| Heart-hand syndrome, Slovenian type | AD | ||
| LMNB1 | 150340 | Leukodystrophy, adult-onset, autosomal dominant | AD |
| Microcephaly 26, primary, autosomal dominant | AD | ||
| LPIN1 | 605518 | Myoglobinuria, acute recurrent, autosomal recessive | AR |
| LPL | 609708 | [High density lipoprotein cholesterol level QTL 11] | AR |
| Combined hyperlipidemia, familial | AD | ||
| Lipoprotein lipase deficiency | AR | ||
| LRBA | 606453 | Immunodeficiency, common variable, 8, with autoimmunity | AR |
| LRPPRC | 607544 | Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian) | AR |
| LYRM7 | 615831 | Mitochondrial complex III deficiency, nuclear type 8 | AR |
| LYST | 606897 | Chediak-Higashi syndrome | AR |
| MAG | 159460 | Spastic paraplegia 75, autosomal recessive | AR |
| MAGT1 | 300715 | Congenital disorder of glycosylation, type Icc | XLR |
| Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia | XLR | ||
| MAN1B1 | 604346 | Rafiq syndrome | AR |
| MAN2B1 | 609458 | Mannosidosis, alpha-, types I and II | AR |
| MANBA | 609489 | Mannosidosis, beta | AR |
| MARS1 | 156560 | Charcot-Marie-Tooth disease, axonal, type 2U | AD |
| ?Trichothiodystrophy 9, nonphotosensitive | AR | ||
| Interstitial lung and liver disease | AR | ||
| MARS2 | 609728 | Spastic ataxia 3, autosomal recessive | AR |
| ?Combined oxidative phosphorylation deficiency 25 | AR | ||
| MCCC1 | 609010 | 3-Methylcrotonyl-CoA carboxylase 1 deficiency | AR |
| MCCC2 | 609014 | 3-Methylcrotonyl-CoA carboxylase 2 deficiency | AR |
| MCEE | 608419 | Methylmalonyl-CoA epimerase deficiency | AR |
| MCOLN1 | 605248 | Mucolipidosis IV | AR |
| MECR | 608205 | Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | AR |
| MFSD8 | 611124 | Ceroid lipofuscinosis, neuronal, 7 | AR |
| Macular dystrophy with central cone involvement | AR | ||
| MGAT2 | 602616 | Congenital disorder of glycosylation, type IIa | AR |
| MGME1 | 615076 | Mitochondrial DNA depletion syndrome 11 | AR |
| MLC1 | 605908 | Megalencephalic leukoencephalopathy with subcortical cysts | AR |
| MLPH | 606526 | Griscelli syndrome, type 3 | AR |
| MLYCD | 606761 | Malonyl-CoA decarboxylase deficiency | AR |
| MMAA | 607481 | Methylmalonic aciduria, vitamin B12-responsive | AR |
| MMAB | 607568 | Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type | AR |
| MMACHC | 609831 | Methylmalonic aciduria and homocystinuria, cblC type | AR |
| MMADHC | 611935 | Methylmalonic aciduria and homocystinuria, cblD type | AR |
| Methylmalonic aciduria, cblD type, variant 2 | AR | ||
| Homocystinuria, cblD type, variant 1 | AR | ||
| MMUT | 609058 | Methylmalonic aciduria, mut(0) type | AR |
| MOCS1 | 603707 | Molybdenum cofactor deficiency A | AR |
| MOCS2 | 603708 | Molybdenum cofactor deficiency B | AR |
| MOGS | 601336 | Congenital disorder of glycosylation, type IIb | AR |
| MPDU1 | 604041 | Congenital disorder of glycosylation, type If | AR |
| MPI | 154550 | Congenital disorder of glycosylation, type Ib | AR |
| MPV17 | 137960 | Charcot-Marie-Tooth disease, axonal, type 2EE | AR |
| Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | AR | ||
| MRPL44 | 611849 | ?Combined oxidative phosphorylation deficiency 16 | AR |
| MRPS22 | 605810 | Ovarian dysgenesis 7 | AR |
| Combined oxidative phosphorylation deficiency 5 | AR | ||
| MTFMT | 611766 | Combined oxidative phosphorylation deficiency 15 | AR |
| Mitochondrial complex I deficiency, nuclear type 27 | AR | ||
| MTHFR | 607093 | Neural tube defects, susceptibility to | AR |
| Homocystinuria due to MTHFR deficiency | AR | ||
| Schizophrenia, susceptibility to | AD | ||
| Thromboembolism, susceptibility to | AD | ||
| MTPAP | 613669 | ?Spastic ataxia 4, autosomal recessive | AR |
| MTR | 156570 | Neural tube defects, folate-sensitive, susceptibility to | AR |
| Homocystinuria-megaloblastic anemia, cblG complementation type | AR | ||
| MTRFR | 613541 | Spastic paraplegia 55, autosomal recessive | AR |
| Combined oxidative phosphorylation deficiency 7 | AR | ||
| MTRR | 602568 | Homocystinuria-megaloblastic anemia, cbl E type | AR |
| Neural tube defects, folate-sensitive, susceptibility to | AR | ||
| MYO5A | 160777 | Griscelli syndrome, type 1 | AR |
| MYOT | 604103 | Myopathy, myofibrillar, 3 | AD |
| Myopathy, spheroid body | AD | ||
| NAGA | 104170 | Schindler disease, type III | AR |
| Kanzaki disease | AR | ||
| Schindler disease, type I | AR | ||
| NAGLU | 609701 | ?Charcot-Marie-Tooth disease, axonal, type 2V | AD |
| Mucopolysaccharidosis type IIIB (Sanfilippo B) | AR | ||
| NAGS | 608300 | N-acetylglutamate synthase deficiency | AR |
| NARS2 | 612803 | ?Deafness, autosomal recessive 94 | AR |
| Combined oxidative phosphorylation deficiency 24 | AR | ||
| NAXD | 615910 | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 | AR |
| NAXE | 608862 | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy | AR |
| NBAS | 608025 | Short stature, optic nerve atrophy, and Pelger-Huet anomaly | AR |
| Infantile liver failure syndrome 2 | AR | ||
| NDUFA1 | 300078 | Mitochondrial complex I deficiency, nuclear type 12 | XLR |
| NDUFA10 | 603835 | Mitochondrial complex I deficiency, nuclear type 22 | AR |
| NDUFA11 | 612638 | Mitochondrial complex I deficiency, nuclear type 14 | AR |
| NDUFA12 | 614530 | ?Mitochondrial complex I deficiency, nuclear type 23 | AR |
| NDUFA2 | 602137 | Mitochondrial complex I deficiency, nuclear type 13 | AR |
| NDUFA9 | 603834 | Mitochondrial complex I deficiency, nuclear type 26 | AR |
| NDUFAF1 | 606934 | Mitochondrial complex I deficiency, nuclear type 11 | AR |
| NDUFAF2 | 609653 | Mitochondrial complex I deficiency, nuclear type 10 | AR |
| NDUFAF4 | 611776 | Mitochondrial complex I deficiency, nuclear type 15 | AR |
| NDUFAF5 | 612360 | Mitochondrial complex I deficiency, nuclear type 16 | AR |
| NDUFAF6 | 612392 | Mitochondrial complex I deficiency, nuclear type 17 | AR |
| Fanconi renotubular syndrome 5 | AR | ||
| NDUFS1 | 157655 | Mitochondrial complex I deficiency, nuclear type 5 | AR |
| NDUFS2 | 602985 | Mitochondrial complex I deficiency, nuclear type 6 | AR |
| NDUFS3 | 603846 | Mitochondrial complex I deficiency, nuclear type 8 | AR |
| NDUFS4 | 602694 | Mitochondrial complex I deficiency, nuclear type 1 | AR |
| NDUFS6 | 603848 | Mitochondrial complex I deficiency, nuclear type 9 | AR |
| NDUFS7 | 601825 | Mitochondrial complex I deficiency, nuclear type 3 | AR |
| NDUFS8 | 602141 | Mitochondrial complex I deficiency, nuclear type 2 | AR |
| NDUFV1 | 161015 | Mitochondrial complex I deficiency, nuclear type 4 | AR |
| NDUFV2 | 600532 | Mitochondrial complex I deficiency, nuclear type 7 | AR |
| NEU1 | 608272 | Sialidosis, type I | AR |
| Sialidosis, type II | AR | ||
| NEUROD1 | 601724 | Type 2 diabetes mellitus, susceptibility to | AD |
| Maturity-onset diabetes of the young 6 | - | ||
| NEUROG3 | 604882 | Diarrhea 4, malabsorptive, congenital | AR |
| NFE2L2 | 600492 | Immunodeficiency, developmental delay, and hypohomocysteinemia | AD |
| NFU1 | - | Multiple mitochondrial dysfunctions syndrome 1 | AR |
| NGLY1 | 610661 | Congenital disorder of deglycosylation | AR |
| NHLRC1 | - | Epilepsy, progressive myoclonic 2B (Lafora) | AR |
| NIPA1 | 608145 | Spastic paraplegia 6, autosomal dominant | AD |
| NKX6-2 | 605955 | Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy | AR |
| NOTCH3 | 600276 | ?Myofibromatosis, infantile 2 | AD |
| Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 | AD | ||
| Lateral meningocele syndrome | AD | ||
| NPC1 | 607623 | Niemann-Pick disease, type C1 | AR |
| Niemann-Pick disease, type D | AR | ||
| NPC2 | 601015 | Niemann-pick disease, type C2 | AR |
| NPR2 | 108961 | Acromesomelic dysplasia, Maroteaux type | AR |
| Short stature with nonspecific skeletal abnormalities | AD | ||
| Epiphyseal chondrodysplasia, Miura type | AD | ||
| NRAS | 164790 | Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic | - |
| Colorectal cancer, somatic | - | ||
| Neurocutaneous melanosis, somatic | - | ||
| ?RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic | - | ||
| Noonan syndrome 6 | AD | ||
| Melanocytic nevus syndrome, congenital, somatic | - | ||
| Thyroid carcinoma, follicular, somatic | - | ||
| Epidermal nevus, somatic | - | ||
| NT5C2 | 600417 | Spastic paraplegia 45, autosomal recessive | AR |
| NUBPL | 613621 | Mitochondrial complex I deficiency, nuclear type 21 | AR |
| OAT | 613349 | Gyrate atrophy of choroid and retina with or without ornithinemia | AR |
| OCLN | 602876 | Pseudo-TORCH syndrome 1 | AR |
| OCRL | - | Lowe syndrome | XLR |
| Dent disease 2 | XLR | ||
| OPA3 | 606580 | 3-methylglutaconic aciduria, type III | AR |
| Optic atrophy 3 with cataract | AD | ||
| OSGEP | 610107 | Galloway-Mowat syndrome 3 | AR |
| OTC | 300461 | Ornithine transcarbamylase deficiency | XL |
| OXCT1 | - | Succinyl CoA:3-oxoacid CoA transferase deficiency | AR |
| PAH | 612349 | Phenylketonuria | AR |
| [Hyperphenylalaninemia, non-PKU mild] | AR | ||
| PANK2 | 606157 | HARP syndrome | AR |
| Neurodegeneration with brain iron accumulation 1 | AR | ||
| PAX4 | 167413 | Maturity-onset diabetes of the young, type IX | - |
| Diabetes mellitus, ketosis-prone, susceptibility to | AD, AR | ||
| Diabetes mellitus, type 2 | AD | ||
| PC | 608786 | Pyruvate carboxylase deficiency | AR |
| PCCA | 232000 | Propionicacidemia | AR |
| PCCB | 232050 | Propionicacidemia | AR |
| PCK1 | 614168 | ?Phosphoenolpyruvate carboxykinase deficiency, cytosolic | AR |
| PCSK9 | 607786 | Hypercholesterolemia, familial, 3 | AD |
| Low density lipoprotein cholesterol level QTL 1 | AD | ||
| PCYT2 | 602679 | Spastic paraplegia 82, autosomal recessive | AR |
| PDHA1 | - | Pyruvate dehydrogenase E1-alpha deficiency | XLD |
| PDHB | 179060 | Pyruvate dehydrogenase E1-beta deficiency | AR |
| PDHX | 608769 | Lacticacidemia due to PDX1 deficiency | AR |
| PDP1 | 605993 | Pyruvate dehydrogenase phosphatase deficiency | AR |
| PDSS1 | 607429 | Coenzyme Q10 deficiency, primary, 2 | AR |
| PDSS2 | 610564 | Coenzyme Q10 deficiency, primary, 3 | AR |
| PDX1 | 600733 | Pancreatic agenesis 1 | AR |
| MODY, type IV | - | ||
| Diabetes mellitus, type II, susceptibility to | AD | ||
| PEPD | 613230 | Prolidase deficiency | AR |
| PET100 | 614770 | Mitochondrial complex IV deficiency, nuclear type 12 | AR |
| PEX1 | 602136 | Peroxisome biogenesis disorder 1A (Zellweger) | AR |
| Peroxisome biogenesis disorder 1B (NALD/IRD) | AR | ||
| Heimler syndrome 1 | AR | ||
| PEX10 | 602859 | Peroxisome biogenesis disorder 6A (Zellweger) | AR |
| Peroxisome biogenesis disorder 6B | AR | ||
| PEX11B | 603867 | Peroxisome biogenesis disorder 14B | AR |
| PEX12 | 601758 | Peroxisome biogenesis disorder 3B | AR |
| Peroxisome biogenesis disorder 3A (Zellweger) | AR | ||
| PEX13 | 601789 | Peroxisome biogenesis disorder 11B | AR |
| Peroxisome biogenesis disorder 11A (Zellweger) | AR | ||
| PEX14 | 601791 | Peroxisome biogenesis disorder 13A (Zellweger) | AR |
| PEX16 | 603360 | Peroxisome biogenesis disorder 8A (Zellweger) | AR |
| Peroxisome biogenesis disorder 8B | AR | ||
| PEX19 | 600279 | Peroxisome biogenesis disorder 12A (Zellweger) | AR |
| PEX2 | 170993 | Peroxisome biogenesis disorder 5B | AR |
| Peroxisome biogenesis disorder 5A (Zellweger) | AR | ||
| PEX26 | 608666 | Peroxisome biogenesis disorder 7A (Zellweger) | AR |
| Peroxisome biogenesis disorder 7B | AR | ||
| PEX3 | 603164 | Peroxisome biogenesis disorder 10A (Zellweger) | AR |
| ?Peroxisome biogenesis disorder 10B | AR | ||
| PEX5 | 600414 | Rhizomelic chondrodysplasia punctata, type 5 | AR |
| Peroxisome biogenesis disorder 2B | AR | ||
| Peroxisome biogenesis disorder 2A (Zellweger) | AR | ||
| PEX6 | - | Peroxisome biogenesis disorder 4B | AD, AR |
| Peroxisome biogenesis disorder 4A (Zellweger) | AR | ||
| Heimler syndrome 2 | AR | ||
| PEX7 | 601757 | Peroxisome biogenesis disorder 9B | AR |
| Rhizomelic chondrodysplasia punctata, type 1 | AR | ||
| PFKM | 610681 | Glycogen storage disease VII | AR |
| PGAM2 | 612931 | Glycogen storage disease X | AR |
| PGAP1 | 611655 | Mental retardation, autosomal recessive 42 | AR |
| PGK1 | 311800 | Phosphoglycerate kinase 1 deficiency | XLR |
| PGM1 | 171900 | Congenital disorder of glycosylation, type It | AR |
| PHKA1 | 311870 | Muscle glycogenosis | XLR |
| PHKA2 | 300798 | Glycogen storage disease, type IXa1 | XLR |
| Glycogen storage disease, type IXa2 | XLR | ||
| PHKB | 172490 | Phosphorylase kinase deficiency of liver and muscle, autosomal recessive | AR |
| PHKG2 | 172471 | Glycogen storage disease IXc | AR |
| PHYH | 602026 | Refsum disease | AR |
| PIK3R1 | 171833 | ?Agammaglobulinemia 7, autosomal recessive | AR |
| Immunodeficiency 36 | AD | ||
| SHORT syndrome | AD | ||
| PKLR | 609712 | Adenosine triphosphate, elevated, of erythrocytes | AD |
| Pyruvate kinase deficiency | AR | ||
| PLA2G6 | 603604 | Neurodegeneration with brain iron accumulation 2B | AR |
| Parkinson disease 14, autosomal recessive | AR | ||
| Infantile neuroaxonal dystrophy 1 | AR | ||
| PLAA | 603873 | Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies | AR |
| PLCG2 | 600220 | Familial cold autoinflammatory syndrome 3 | AD |
| Autoinflammation, antibody deficiency, and immune dysregulation syndrome | AD | ||
| PLIN1 | 170290 | Lipodystrophy, familial partial, type 4 | AD |
| PLP1 | 300401 | Pelizaeus-Merzbacher disease | XLR |
| Spastic paraplegia 2, X-linked | XLR | ||
| PLPBP | 604436 | Epilepsy, early-onset, vitamin B6-dependent | AR |
| PMM2 | 601785 | Congenital disorder of glycosylation, type Ia | AR |
| PMPCB | 603131 | Multiple mitochondrial dysfunctions syndrome 6 | AR |
| PNPLA6 | 603197 | Spastic paraplegia 39, autosomal recessive | AR |
| Boucher-Neuhauser syndrome | AR | ||
| Oliver-McFarlane syndrome | AR | ||
| ?Laurence-Moon syndrome | AR | ||
| PNPO | 603287 | Pyridoxamine 5'-phosphate oxidase deficiency | AR |
| PNPT1 | 610316 | Deafness, autosomal recessive 70 | AR |
| Combined oxidative phosphorylation deficiency 13 | AR | ||
| Spinocerebellar ataxia 25 | - | ||
| POLG | 174763 | Progressive external ophthalmoplegia, autosomal recessive 1 | AR |
| Progressive external ophthalmoplegia, autosomal dominant 1 | AD | ||
| Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) | AR | ||
| Mitochondrial DNA depletion syndrome 4B (MNGIE type) | AR | ||
| Mitochondrial DNA depletion syndrome 4A (Alpers type) | AR | ||
| POLR1C | 610060 | Leukodystrophy, hypomyelinating, 11 | AR |
| Treacher Collins syndrome 3 | AR | ||
| POLR3A | 614258 | Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism | AR |
| Wiedemann-Rautenstrauch syndrome | AR | ||
| POLR3B | 614366 | Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism | AR |
| Charcot-Marie-Tooth disease, demyelinating, type 1I | AD | ||
| POR | 124015 | Disordered steroidogenesis due to cytochrome P450 oxidoreductase | - |
| Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | AR | ||
| PPARG | - | Carotid intimal medial thickness 1 | - |
| Obesity, severe | AD, AR, MF | ||
| Lipodystrophy, familial partial, type 3 | AD | ||
| Diabetes, type 2 | AD | ||
| Insulin resistance, severe, digenic | AD | ||
| PPOX | 600923 | Porphyria variegata | AD |
| PPP1R17 | 604088 | Hypercholesterolemia, susceptibility to | AD, AR |
| PPT1 | 600722 | Ceroid lipofuscinosis, neuronal, 1 | AR |
| PRF1 | 170280 | Hemophagocytic lymphohistiocytosis, familial, 2 | AR |
| Lymphoma, non-Hodgkin | - | ||
| Aplastic anemia | - | ||
| PRICKLE1 | 608500 | Epilepsy, progressive myoclonic 1B | AR |
| PRKAG2 | 602743 | Glycogen storage disease of heart, lethal congenital | AD |
| Cardiomyopathy, hypertrophic 6 | AD | ||
| Wolff-Parkinson-White syndrome | AD | ||
| PRKCD | 176977 | Autoimmune lymphoproliferative syndrome, type III | AR |
| PRODH | 606810 | Schizophrenia, susceptibility to, 4 | AD |
| Hyperprolinemia, type I | AR | ||
| PSAP | 176801 | Combined SAP deficiency | AR |
| Gaucher disease, atypical | - | ||
| Krabbe disease, atypical | AR | ||
| Parkinson disease 24, autosomal dominant, susceptibility to | AD | ||
| Metachromatic leukodystrophy due to SAP-b deficiency | AR | ||
| PSEN1 | 104311 | Cardiomyopathy, dilated, 1U | AD |
| Pick disease | AD | ||
| Alzheimer disease, type 3 | AD | ||
| Alzheimer disease, type 3, with spastic paraparesis and apraxia | AD | ||
| ?Acne inversa, familial, 3 | AD | ||
| Dementia, frontotemporal | AD | ||
| Alzheimer disease, type 3, with spastic paraparesis and unusual plaques | AD | ||
| PTF1A | 607194 | Pancreatic and cerebellar agenesis | AR |
| Pancreatic agenesis 2 | AR | ||
| PTS | 612719 | Hyperphenylalaninemia, BH4-deficient, A | AR |
| PYCR2 | 616406 | Leukodystrophy, hypomyelinating, 10 | AR |
| PYGL | 613741 | Glycogen storage disease VI | AR |
| PYGM | 608455 | McArdle disease | AR |
| QDPR | 612676 | Hyperphenylalaninemia, BH4-deficient, C | AR |
| RAB11B | 604198 | Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter | AD |
| RAB27A | 603868 | Griscelli syndrome, type 2 | AR |
| RAB3GAP2 | 609275 | Warburg micro syndrome 2 | AR |
| Martsolf syndrome | AR | ||
| RAI1 | 607642 | Smith-Magenis syndrome | AD, IC |
| RARS1 | 107820 | Leukodystrophy, hypomyelinating, 9 | AR |
| RARS2 | 611524 | Pontocerebellar hypoplasia, type 6 | AR |
| RBCK1 | 610924 | Polyglucosan body myopathy 1 with or without immunodeficiency | AR |
| REEP1 | 609139 | Spastic paraplegia 31, autosomal dominant | AD |
| ?Neuronopathy, distal hereditary motor, type VB | AD | ||
| Spinal muscular atrophy, distal, autosomal recessive, 6 | - | ||
| REEP2 | 609347 | ?Spastic paraplegia 72, autosomal recessive | AD, AR |
| ?Spastic paraplegia 72, autosomal dominant | AD, AR | ||
| RFT1 | 611908 | Congenital disorder of glycosylation, type In | AR |
| RFX6 | 612659 | Mitchell-Riley syndrome | AR |
| RNASEH2A | 606034 | Aicardi-Goutieres syndrome 4 | AR |
| RNASEH2B | 610326 | Aicardi-Goutieres syndrome 2 | AR |
| RNASEH2C | 610330 | Aicardi-Goutieres syndrome 3 | AR |
| RNASET2 | 612944 | Leukoencephalopathy, cystic, without megalencephaly | AR |
| RNF216 | 609948 | Cerebellar ataxia and hypogonadotropic hypogonadism | AR |
| RPIA | 180430 | Ribose 5-phosphate isomerase deficiency | AR |
| RRM2B | 604712 | Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) | AR |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 | AD | ||
| Mitochondrial DNA depletion syndrome 8B (MNGIE type) | AR | ||
| Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction | AR | ||
| RTN2 | 603183 | Spastic paraplegia 12, autosomal dominant | AD |
| SACS | 604490 | Spastic ataxia, Charlevoix-Saguenay type | AR |
| SAMHD1 | 606754 | ?Chilblain lupus 2 | AD |
| Aicardi-Goutieres syndrome 5 | AR | ||
| SCARB2 | 602257 | Epilepsy, progressive myoclonic 4, with or without renal failure | AR |
| SCO1 | 603644 | Mitochondrial complex IV deficiency, nuclear type 4 | AR |
| SCO2 | 604272 | Myopia 6 | AD |
| Mitochondrial complex IV deficiency, nuclear type 2 | AR | ||
| SDHA | 600857 | Neurodegeneration with ataxia and late-onset optic atrophy | AD |
| Cardiomyopathy, dilated, 1GG | AR | ||
| Leigh syndrome | AR, Mitochondrial | ||
| Mitochondrial respiratory chain complex II deficiency | AR | ||
| Paragangliomas 5 | AD | ||
| SDHAF1 | 612848 | Mitochondrial complex II deficiency, nuclear type 2 | AR |
| Mitochondrial complex II deficiency | AR | ||
| SDHB | 185470 | Pheochromocytoma | AD |
| Mitochondrial complex II deficiency, nuclear type 4 | AR | ||
| Paragangliomas 4 | AD | ||
| Paraganglioma and gastric stromal sarcoma | - | ||
| Gastrointestinal stromal tumor | AD, IC | ||
| SDHD | 602690 | Mitochondrial complex II deficiency | AR |
| Paraganglioma and gastric stromal sarcoma | - | ||
| Paragangliomas 1, with or without deafness | AD | ||
| Mitochondrial complex II deficiency, nuclear type 3 | AR | ||
| Pheochromocytoma | AD | ||
| SERAC1 | 614725 | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | AR |
| SERPINI1 | 602445 | Encephalopathy, familial, with neuroserpin inclusion bodies | AD |
| SGSH | 605270 | Mucopolysaccharidosis type IIIA (Sanfilippo A) | AR |
| SI | 609845 | Sucrase-isomaltase deficiency, congenital | AR |
| SLC13A3 | 606411 | Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate | AR |
| SLC16A1 | 600682 | Hyperinsulinemic hypoglycemia, familial, 7 | AD |
| Erythrocyte lactate transporter defect | AD | ||
| Monocarboxylate transporter 1 deficiency | AD, AR | ||
| SLC16A2 | 300095 | Allan-Herndon-Dudley syndrome | XL |
| SLC17A5 | 604322 | Sialic acid storage disorder, infantile | AR |
| Salla disease | AR | ||
| SLC19A2 | 603941 | Thiamine-responsive megaloblastic anemia syndrome | AR |
| SLC19A3 | 606152 | Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) | AR |
| SLC1A4 | 600229 | Spastic tetraplegia, thin corpus callosum, and progressive microcephaly | AR |
| SLC22A5 | 603377 | Carnitine deficiency, systemic primary | AR |
| SLC25A1 | 190315 | Myasthenic syndrome, congenital, 23, presynaptic | AR |
| Combined D-2- and L-2-hydroxyglutaric aciduria | AR | ||
| SLC25A12 | 603667 | Developmental and epileptic encephalopathy 39 | AR |
| SLC25A13 | 603859 | Citrullinemia, type II, neonatal-onset | AR |
| Citrullinemia, adult-onset type II | AR | ||
| SLC25A15 | 603861 | Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome | AR |
| SLC25A20 | 613698 | Carnitine-acylcarnitine translocase deficiency | AR |
| SLC25A4 | 103220 | Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR | AR |
| Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD | AD | ||
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 | AD | ||
| SLC25A46 | 610826 | Neuropathy, hereditary motor and sensory, type VIB | AR |
| Pontocerebellar hypoplasia, type 1E | AR | ||
| SLC2A1 | 138140 | GLUT1 deficiency syndrome 2, childhood onset | AD |
| GLUT1 deficiency syndrome 1, infantile onset, severe | AD, AR | ||
| Epilepsy, idiopathic generalized, susceptibility to, 12 | AD | ||
| Stomatin-deficient cryohydrocytosis with neurologic defects | AD | ||
| Dystonia 9 | AD | ||
| SLC2A2 | 138160 | Fanconi-Bickel syndrome | AR |
| Diabetes mellitus, noninsulin-dependent | AD | ||
| SLC33A1 | 603690 | Congenital cataracts, hearing loss, and neurodegeneration | AR |
| Spastic paraplegia 42, autosomal dominant | AD | ||
| SLC35A1 | 605634 | Congenital disorder of glycosylation, type IIf | AR |
| SLC35A2 | 314375 | Congenital disorder of glycosylation, type IIm | Somatic mosaicism, XLD |
| SLC35C1 | 605881 | Congenital disorder of glycosylation, type IIc | AR |
| SLC3A1 | 104614 | Cystinuria | AD, AR |
| SLC40A1 | 604653 | Hemochromatosis, type 4 | AD |
| SLC4A1 | 109270 | [Blood group, Wright] | - |
| Distal renal tubular acidosis 1 | AD | ||
| Ovalocytosis, SA type | AD | ||
| [Malaria, resistance to] | - | ||
| [Blood group, Swann] | - | ||
| [Blood group, Froese] | - | ||
| [Blood group, Waldner] | - | ||
| Cryohydrocytosis | AD | ||
| [Blood group, Diego] | - | ||
| Distal renal tubular acidosis 4 with hemolytic anemia | AR | ||
| Spherocytosis, type 4 | AD | ||
| SLC6A19 | 608893 | Iminoglycinuria, digenic | AR, DR |
| Hyperglycinuria | AD | ||
| Hartnup disorder | AR | ||
| SLC6A8 | 300036 | Cerebral creatine deficiency syndrome 1 | XLR |
| SLC6A9 | 601019 | Glycine encephalopathy with normal serum glycine | AR |
| SLC7A7 | 603593 | Lysinuric protein intolerance | AR |
| SLC7A9 | 604144 | Cystinuria | AD, AR |
| SLCO1B1 | 604843 | Hyperbilirubinemia, Rotor type, digenic | DR |
| SLCO1B3 | 605495 | Hyperbilirubinemia, Rotor type, digenic | DR |
| SMPD1 | 607608 | Niemann-Pick disease, type A | AR |
| Niemann-Pick disease, type B | AR | ||
| SNTA1 | 601017 | Long QT syndrome 12 | AD |
| SOX10 | 602229 | Waardenburg syndrome, type 4C | AD |
| PCWH syndrome | AD | ||
| Waardenburg syndrome, type 2E, with or without neurologic involvement | AD | ||
| SPART | 607111 | Troyer syndrome | AR |
| SPAST | 604277 | Spastic paraplegia 4, autosomal dominant | AD |
| SPG11 | 610844 | Spastic paraplegia 11, autosomal recessive | AR |
| Amyotrophic lateral sclerosis 5, juvenile | AR | ||
| Charcot-Marie-Tooth disease, axonal, type 2X | AR | ||
| SPG21 | 608181 | Mast syndrome | AR |
| SPG7 | 602783 | Spastic paraplegia 7, autosomal recessive | AD, AR |
| SPTA1 | 182860 | Pyropoikilocytosis | AR |
| Elliptocytosis-2 | AD | ||
| Spherocytosis, type 3 | AR | ||
| SPTB | 182870 | Spherocytosis, type 2 | AD |
| Elliptocytosis-3 | - | ||
| Anemia, neonatal hemolytic, fatal or near-fatal | - | ||
| SRD5A3 | 611715 | Congenital disorder of glycosylation, type Iq | AR |
| Kahrizi syndrome | AR | ||
| SSR4 | 300090 | Congenital disorder of glycosylation, type Iy | XLR |
| STAT1 | 600555 | Immunodeficiency 31C, chronic mucocutaneous candidiasis, autosomal dominant | AD |
| Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive | AR | ||
| Immunodeficiency 31A, mycobacteriosis, autosomal dominant | AD | ||
| STAT3 | 102582 | Hyper-IgE recurrent infection syndrome | AD |
| Autoimmune disease, multisystem, infantile-onset, 1 | AD | ||
| STT3A | 601134 | Congenital disorder of glycosylation, type Iw, autosomal dominant | AD |
| Congenital disorder of glycosylation, type Iw | AR | ||
| STT3B | 608605 | ?Congenital disorder of glycosylation, type Ix | AR |
| STX11 | 605014 | Hemophagocytic lymphohistiocytosis, familial, 4 | AR |
| STXBP2 | 601717 | Hemophagocytic lymphohistiocytosis, familial, 5 | - |
| SUCLA2 | 603921 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | AR |
| SUCLG1 | 611224 | Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) | AR |
| SUGCT | 609187 | Glutaric aciduria III | AR |
| SUMF1 | 607939 | Multiple sulfatase deficiency | AR |
| SUOX | 606887 | Sulfite oxidase deficiency | AR |
| SURF1 | 185620 | Charcot-Marie-Tooth disease, type 4K | AR |
| Mitochondrial complex IV deficiency, nuclear type 1 | AR | ||
| SYNE1 | 608441 | Arthrogryposis multiplex congenita 3, myogenic type | AR |
| Emery-Dreifuss muscular dystrophy 4, autosomal dominant | AD | ||
| Spinocerebellar ataxia, autosomal recessive 8 | AR | ||
| TACO1 | 612958 | Mitochondrial complex IV deficiency, nuclear type 8 | AR |
| TAFAZZIN | 300394 | Barth syndrome | XLR |
| TAT | 613018 | Tyrosinemia, type II | AR |
| TBC1D24 | 613577 | Deafness, autosomal dominant 65 | AD |
| Deafness, autosomal recessive 86 | AR | ||
| Myoclonic epilepsy, infantile, familial | AR | ||
| Developmental and epileptic encephalopathy 16 | AR | ||
| DOORS syndrome | AR | ||
| Epilepsy, rolandic, with proxysmal exercise-induce dystonia and writer's cramp | AR | ||
| TCF4 | 602272 | Pitt-Hopkins syndrome | AD |
| Corneal dystrophy, Fuchs endothelial, 3 | AD | ||
| TCN2 | 613441 | Transcobalamin II deficiency | AR |
| TECPR2 | 615000 | Spastic paraplegia 49, autosomal recessive | AR |
| TFG | 602498 | Hereditary motor and sensory neuropathy, Okinawa type | AD |
| ?Spastic paraplegia 57, autosomal recessive | AR | ||
| TFR2 | 604720 | Hemochromatosis, type 3 | AR |
| TGFB1 | 190180 | Camurati-Engelmann disease | AD |
| Cystic fibrosis lung disease, modifier of | AR | ||
| Inflammatory bowel disease, immunodeficiency, and encephalopathy | AR | ||
| TINF2 | 604319 | Revesz syndrome | AD |
| Dyskeratosis congenita, autosomal dominant 3 | AD | ||
| TK2 | 188250 | Mitochondrial DNA depletion syndrome 2 (myopathic type) | AR |
| ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 | AR | ||
| TMEM106B | 613413 | Leukodystrophy, hypomyelinating, 16 | AD |
| TMEM165 | 614726 | Congenital disorder of glycosylation, type IIk | AR |
| TMEM70 | 612418 | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 | AR |
| TPK1 | 606370 | Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) | AR |
| TPP1 | 607998 | Ceroid lipofuscinosis, neuronal, 2 | AR |
| Spinocerebellar ataxia, autosomal recessive 7 | AR | ||
| TREM2 | 605086 | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2 | AR |
| TREX1 | 606609 | Aicardi-Goutieres syndrome 1, dominant and recessive | AD, AR |
| Chilblain lupus | AD | ||
| Vasculopathy, retinal, with cerebral leukodystrophy | AD | ||
| Systemic lupus erythematosus, susceptibility to | AD | ||
| TRMT10A | 616013 | Microcephaly, short stature, and impaired glucose metabolism 1 | AR |
| TRPV4 | 605427 | SED, Maroteaux type | AD |
| Spondylometaphyseal dysplasia, Kozlowski type | AD | ||
| Metatropic dysplasia | AD | ||
| Brachyolmia type 3 | AD | ||
| Neuronopathy, distal hereditary motor, type VIII | AD | ||
| [Sodium serum level QTL 1] | - | ||
| ?Avascular necrosis of femoral head, primary, 2 | AD | ||
| Scapuloperoneal spinal muscular atrophy | AD | ||
| Parastremmatic dwarfism | AD | ||
| Hereditary motor and sensory neuropathy, type IIc | AD | ||
| Digital arthropathy-brachydactyly, familial | AD | ||
| TSFM | 604723 | Combined oxidative phosphorylation deficiency 3 | AR |
| TTC19 | 613814 | Mitochondrial complex III deficiency, nuclear type 2 | AR |
| TUBB4A | 602662 | Dystonia 4, torsion, autosomal dominant | AD |
| Leukodystrophy, hypomyelinating, 6 | AD | ||
| TUFM | 602389 | Combined oxidative phosphorylation deficiency 4 | AR |
| TUSC3 | 601385 | Mental retardation, autosomal recessive 7 | AR |
| TWNK | 606075 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 | AD |
| Perrault syndrome 5 | AR | ||
| Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) | AR | ||
| TYMP | 131222 | Mitochondrial DNA depletion syndrome 1 (MNGIE type) | AR |
| TYROBP | 604142 | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 | AR |
| UBAP1 | 609787 | Spastic paraplegia 80, autosomal dominant | AD |
| UCHL1 | 191342 | ?Parkinson disease 5, susceptibility to | AD |
| Spastic paraplegia 79, autosomal recessive | AR | ||
| UCP2 | 601693 | Obesity, susceptibility to, BMIQ4 | - |
| UFM1 | 610553 | Leukodystrophy, hypomyelinating, 14 | AR |
| UGT1A1 | 191740 | [Gilbert syndrome] | AR |
| Crigler-Najjar syndrome, type II | AR | ||
| Crigler-Najjar syndrome, type I | AR | ||
| Hyperbilirubinemia, familial transient neonatal | AD, AR | ||
| [Bilirubin, serum level of, QTL1] | - | ||
| UMPS | 613891 | Orotic aciduria | AR |
| UNC13D | 608897 | Hemophagocytic lymphohistiocytosis, familial, 3 | AR |
| UNC80 | 612636 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 | AR |
| UQCRQ | 612080 | Mitochondrial complex III deficiency, nuclear type 4 | AR |
| UROD | 613521 | Porphyria, hepatoerythropoietic | AD, AR |
| Porphyria cutanea tarda | AD, AR | ||
| UROS | 606938 | Porphyria, congenital erythropoietic | AR |
| USH1C | 605242 | Usher syndrome, type 1C | AR |
| Deafness, autosomal recessive 18A | AR | ||
| VAMP1 | 185880 | Myasthenic syndrome, congenital, 25 | AR |
| Spastic ataxia 1, autosomal dominant | AD | ||
| VCP | 601023 | Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1 | AD |
| Charcot-Marie-Tooth disease, type 2Y | AD | ||
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 | AD | ||
| VPS11 | 608549 | Leukodystrophy, hypomyelinating, 12 | AR |
| ?Dystonia 32 | AR | ||
| VPS37A | 609927 | Spastic paraplegia 53, autosomal recessive | AR |
| WARS2 | 604733 | Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures | AR |
| Parkinsonism-dystonia 3, childhood-onset | AR | ||
| WASHC5 | 610657 | Spastic paraplegia 8, autosomal dominant | AD |
| Ritscher-Schinzel syndrome 1 | AR | ||
| WDR45 | - | Neurodegeneration with brain iron accumulation 5 | XLD |
| WDR45B | 609226 | Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures | AR |
| WFS1 | 606201 | ?Cataract 41 | AD |
| Wolfram-like syndrome, autosomal dominant | AD | ||
| Wolfram syndrome 1 | AR | ||
| Diabetes mellitus, noninsulin-dependent, association with | AD | ||
| Deafness, autosomal dominant 6/14/38 | AD | ||
| ZFP57 | 612192 | Diabetes mellitus, transient neonatal 1 | AD |
| ZFYVE26 | 612012 | Spastic paraplegia 15, autosomal recessive | AR |
| ZFYVE27 | 610243 | Spastic paraplegia 33, autosomal dominant | AD |
COMMON SYNDROMES AND DISORDERS COVERED
- Aicardi-Goutieres syndrome
- Autoimmune lymphoproliferative syndrome
- Ceroid lipofuscinosis
- Congenital glycosylation disease
- Familial hypercholesterolemia
- Fatty acid oxidation disorder
- Fatty liver disease
- Glycogen storage disease
- Hemophagocytic lymphohistiocytosis
- Hereditary hemochromatosis
- Hereditary spherocytosis
- Leigh syndrome and mitochondrial encephalopathy
- Leukodystrophy and peroxisome biogenesis disorders
- Lipodystrophy syndromes
- Lysosomal storage disease
- Maple syrup urine disease
- Methylmalonic acidemia
- Mucopolysaccharidosis
- Neurodegeneration with Brain Iron Accumulation
- Non-ketotic hyperglycinemia
- Organic acidemias
- Porphyria
- Refsum disease
- Urea cycle disorder
CentoMetabolic® MOx
CentoMetabolic® MOx was developed specifically for patients suspected of having a metabolic disorder or presenting complex, overlapping symptoms, a metabolic crisis, or neurological conditions of unknown etiology. It provides short turnaround times –, targeting critically ill patients in NICU/PICU. It leverages a multiomic approach by including enzyme -activity testing where applicable, as well as a proprietary selection of biomarkers that is continuously updated.
| No. of genes: | 198 |
|---|---|
| TAT: | 15 business days |
| Coverage: | ≥99.50% ≥20x |
| Details: |
NGS including CNV analysis
|
| Gene | OMIM (Gene) | Associated diseases (OMIM) | Inheritance |
|---|---|---|---|
| ABCA1 | 600046 | HDL deficiency, familial, 1 | AD |
| Tangier disease | AR | ||
| ABCB4 | 171060 | Gallbladder disease 1 | AD, AR |
| Cholestasis, progressive familial intrahepatic 3 | AR | ||
| Cholestasis, intrahepatic, of pregnancy, 3 | AD, AR | ||
| ABCC2 | 601107 | Dubin-Johnson syndrome | AR |
| ABCD1 | 300371 | Adrenoleukodystrophy | XLR |
| Adrenomyeloneuropathy, adult | XLR | ||
| ABCD4 | 603214 | Methylmalonic aciduria and homocystinuria, cblJ type | AR |
| ABCG5 | 605459 | Sitosterolemia 2 | AR |
| ABCG8 | 605460 | Gallbladder disease 4 | - |
| Sitosterolemia 1 | AR | ||
| ACAT1 | 607809 | Alpha-methylacetoacetic aciduria | AR |
| ADA | 608958 | Adenosine deaminase deficiency, partial | AR, Somatic mosaicism |
| Severe combined immunodeficiency due to ADA deficiency | AR, Somatic mosaicism | ||
| AGA | 613228 | Aspartylglucosaminuria | AR |
| AGL | 610860 | Glycogen storage disease IIIb | AR |
| Glycogen storage disease IIIa | AR | ||
| AGPS | 603051 | Rhizomelic chondrodysplasia punctata, type 3 | AR |
| AGXT | 604285 | Hyperoxaluria, primary, type 1 | AR |
| ALAD | 125270 | Porphyria, acute hepatic | AR |
| Lead poisoning, susceptibility to | AR | ||
| ALAS2 | 301300 | Protoporphyria, erythropoietic, X-linked | XL |
| Anemia, sideroblastic, 1 | XLR | ||
| ALDH4A1 | 606811 | Hyperprolinemia, type II | AR |
| ALDOA | 103850 | Glycogen storage disease XII | AR |
| ALDOB | 612724 | Fructose intolerance, hereditary | AR |
| ALG3 | 608750 | Congenital disorder of glycosylation, type Id | AR |
| ALPL | 171760 | Hypophosphatasia, infantile | AR |
| Odontohypophosphatasia | AD, AR | ||
| Hypophosphatasia, childhood | AR | ||
| Hypophosphatasia, adult | AD, AR | ||
| ANTXR2 | - | Hyaline fibromatosis syndrome | AR |
| APOA2 | 107670 | Hypercholesterolemia, familial, modifier of | AD, AR |
| APOA5 | 606368 | Hyperchylomicronemia, late-onset | AD |
| Hypertriglyceridemia, susceptibility to | AD | ||
| APOB | 107730 | Hypobetalipoproteinemia | AR |
| Hypercholesterolemia, familial, 2 | AD | ||
| APOC2 | - | Hyperlipoproteinemia, type Ib | AR |
| APOE | 107741 | Sea-blue histiocyte disease | AR |
| Lipoprotein glomerulopathy | - | ||
| ?Alzheimer disease, protection against, due to APOE3-Christchurch | AD | ||
| Hyperlipoproteinemia, type III | - | ||
| Coronary artery disease, severe, susceptibility to | - | ||
| ?Macular degeneration, age-related | AD | ||
| Alzheimer disease 2 | AD | ||
| ARG1 | 608313 | Argininemia | AR |
| ARSA | 607574 | Metachromatic leukodystrophy | AR |
| ARSB | 611542 | Mucopolysaccharidosis type VI (Maroteaux-Lamy) | AR |
| ASAH1 | 613468 | Spinal muscular atrophy with progressive myoclonic epilepsy | AR |
| Farber lipogranulomatosis | AR | ||
| ASL | 608310 | Argininosuccinic aciduria | AR |
| ASS1 | 603470 | Citrullinemia | AR |
| ATP7A | 300011 | Menkes disease | XLR |
| Occipital horn syndrome | XLR | ||
| Spinal muscular atrophy, distal, X-linked 3 | XLR | ||
| ATP7B | 606882 | Wilson disease | AR |
| BCKDHA | 608348 | Maple syrup urine disease, type Ia | AR |
| BCKDHB | 248611 | Maple syrup urine disease, type Ib | AR |
| BTD | 609019 | Biotinidase deficiency | AR |
| CBS | 613381 | Thrombosis, hyperhomocysteinemic | AR |
| Homocystinuria, B6-responsive and nonresponsive types | AR | ||
| CD320 | 606475 | Methylmalonic aciduria, transient, due to transcobalamin receptor defect | AR |
| CETP | 118470 | Hyperalphalipoproteinemia | AD |
| [High density lipoprotein cholesterol level QTL 10] | AD | ||
| CLN3 | 607042 | Ceroid lipofuscinosis, neuronal, 3 | AR |
| CLN5 | - | Ceroid lipofuscinosis, neuronal, 5 | AR |
| CLN6 | 606725 | Ceroid lipofuscinosis, neuronal, Kufs type, adult onset | AR |
| Ceroid lipofuscinosis, neuronal, 6 | AR | ||
| CLN8 | 607837 | Ceroid lipofuscinosis, neuronal, 8 | AR |
| Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant | AR | ||
| CPOX | 612732 | Harderoporphyria | AR |
| Coproporphyria | AD, AR | ||
| CPS1 | 608307 | Carbamoylphosphate synthetase I deficiency | AR |
| Pulmonary hypertension, neonatal, susceptibility to | - | ||
| CPT1A | 600528 | CPT deficiency, hepatic, type IA | AR |
| CTNS | 606272 | Cystinosis, late-onset juvenile or adolescent nephropathic | AR |
| Cystinosis, ocular nonnephropathic | AR | ||
| Cystinosis, nephropathic | AR | ||
| Cystinosis, atypical nephropathic | AR | ||
| CTSA | 613111 | Galactosialidosis | AR |
| CTSD | 116840 | Ceroid lipofuscinosis, neuronal, 10 | AR |
| CTSK | 601105 | Pycnodysostosis | AR |
| CYP11B1 | 610613 | Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency | AR |
| Aldosteronism, glucocorticoid-remediable | AD | ||
| CYP17A1 | 609300 | 17, 20-lyase deficiency, isolated | AR |
| 17-alpha-hydroxylase/17, 20-lyase deficiency | AR | ||
| CYP19A1 | 107910 | Aromatase excess syndrome | AD |
| Aromatase deficiency | - | ||
| CYP21A2 | 613815 | Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency | AR |
| Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency | AR | ||
| DBT | 248610 | Maple syrup urine disease, type II | AR |
| DDC | 107930 | Aromatic L-amino acid decarboxylase deficiency | AR |
| DHCR7 | 602858 | Smith-Lemli-Opitz syndrome | AR |
| DNAJC5 | 611203 | Ceroid lipofuscinosis, neuronal, 4, Parry type | AD |
| DPYD | 612779 | 5-fluorouracil toxicity | AR |
| Dihydropyrimidine dehydrogenase deficiency | AR | ||
| ENO3 | 131370 | ?Glycogen storage disease XIII | AR |
| ENPP1 | 173335 | Arterial calcification, generalized, of infancy, 1 | AR |
| Obesity, susceptibility to | AD, AR, MF | ||
| Hypophosphatemic rickets, autosomal recessive, 2 | AR | ||
| Cole disease | AD | ||
| Diabetes mellitus, non-insulin-dependent, susceptibility to | AD | ||
| EPHX2 | 132811 | Hypercholesterolemia, familial, due to LDLR defect, modifier of | AD, AR |
| ETHE1 | 608451 | Ethylmalonic encephalopathy | AR |
| FAH | 613871 | Tyrosinemia, type I | AR |
| FBP1 | 611570 | Fructose-1, 6-bisphosphatase deficiency | AR |
| FECH | 612386 | Protoporphyria, erythropoietic, 1 | AR |
| FGF23 | 605380 | Tumoral calcinosis, hyperphosphatemic, familial, 2 | AR |
| Hypophosphatemic rickets, autosomal dominant | AD | ||
| FUCA1 | 612280 | Fucosidosis | AR |
| G6PC1 | 613742 | Glycogen storage disease Ia | AR |
| G6PD | 305900 | Resistance to malaria due to G6PD deficiency | - |
| Hemolytic anemia, G6PD deficient (favism) | XLD | ||
| GAA | 606800 | Glycogen storage disease II | AR |
| GALC | 606890 | Krabbe disease | AR |
| GALE | 606953 | Galactose epimerase deficiency | AR |
| GALK1 | 604313 | Galactokinase deficiency with cataracts | AR |
| GALNS | 612222 | Mucopolysaccharidosis IVA | AR |
| GALT | 606999 | Galactosemia | AR |
| GAMT | 601240 | Cerebral creatine deficiency syndrome 2 | AR |
| GATM | 602360 | Cerebral creatine deficiency syndrome 3 | AR |
| Fanconi renotubular syndrome 1 | AD | ||
| GBA | 606463 | Lewy body dementia, susceptibility to | AD |
| Gaucher disease, type IIIC | AR | ||
| Parkinson disease, late-onset, susceptibility to | AD, MF | ||
| Gaucher disease, type II | AR | ||
| Gaucher disease, type III | AR | ||
| Gaucher disease, perinatal lethal | AR | ||
| Gaucher disease, type I | AR | ||
| GBE1 | 607839 | Glycogen storage disease IV | AR |
| Polyglucosan body disease, adult form | AR | ||
| GHR | 600946 | Hypercholesterolemia, familial, modifier of | AD, AR |
| Laron dwarfism | AR | ||
| Growth hormone insensitivity, partial | AD | ||
| Increased responsiveness to growth hormone | AD | ||
| GK | - | Glycerol kinase deficiency | XLR |
| GLA | 300644 | Fabry disease | XL |
| Fabry disease, cardiac variant | XL | ||
| GLB1 | 611458 | GM1-gangliosidosis, type II | AR |
| GM1-gangliosidosis, type I | AR | ||
| Mucopolysaccharidosis type IVB (Morquio) | AR | ||
| GM1-gangliosidosis, type III | AR | ||
| GM2A | 613109 | GM2-gangliosidosis, AB variant | AR |
| GNPAT | 602744 | Rhizomelic chondrodysplasia punctata, type 2 | AR |
| GNPTAB | 607840 | Mucolipidosis III alpha/beta | AR |
| Mucolipidosis II alpha/beta | AR | ||
| GNPTG | 607838 | Mucolipidosis III gamma | AR |
| GNS | 607664 | Mucopolysaccharidosis type IIID | AR |
| GUSB | 611499 | Mucopolysaccharidosis VII | AR |
| GYG1 | 603942 | Polyglucosan body myopathy 2 | AR |
| ?Glycogen storage disease XV | AR | ||
| GYS1 | 138570 | Glycogen storage disease 0, muscle | AR |
| GYS2 | 138571 | Glycogen storage disease 0, liver | AR |
| HCFC1 | 300019 | Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ) | XLR |
| HEXA | 606869 | Tay-Sachs disease | AR |
| [Hex A pseudodeficiency] | AR | ||
| GM2-gangliosidosis, several forms | AR | ||
| HEXB | 606873 | Sandhoff disease, infantile, juvenile, and adult forms | AR |
| HFE | 613609 | Porphyria variegata, susceptibility to | AD |
| Alzheimer disease, susceptibility to | AD | ||
| Hemochromatosis | AR | ||
| [Transferrin serum level QTL2] | - | ||
| Porphyria cutanea tarda, susceptibility to | AD, AR | ||
| Microvascular complications of diabetes 7 | - | ||
| HGD | 607474 | Alkaptonuria | AR |
| HGSNAT | 610453 | Mucopolysaccharidosis type IIIC (Sanfilippo C) | AR |
| Retinitis pigmentosa 73 | AR | ||
| HJV | 608374 | Hemochromatosis, type 2A | AR |
| HLCS | 609018 | Holocarboxylase synthetase deficiency | AR |
| HMBS | 609806 | Porphyria, acute intermittent | AD |
| Porphyria, acute intermittent, nonerythroid variant | AD | ||
| HPD | 609695 | Hawkinsinuria | AD |
| Tyrosinemia, type III | AR | ||
| HPRT1 | 308000 | Hyperuricemia, HRPT-related | XLR |
| Lesch-Nyhan syndrome | XLR | ||
| HSD3B2 | 613890 | Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency | AR |
| HYAL1 | 607071 | ?Mucopolysaccharidosis type IX | AR |
| IDS | 300823 | Mucopolysaccharidosis II | XLR |
| IDUA | 252800 | Mucopolysaccharidosis Is | AR |
| Mucopolysaccharidosis Ih/s | AR | ||
| Mucopolysaccharidosis Ih | AR | ||
| IVD | 607036 | Isovaleric acidemia | AR |
| KHK | 614058 | [Fructosuria] | AR |
| LAMP2 | 309060 | Danon disease | XLD |
| LCAT | 606967 | Norum disease | AR |
| Fish-eye disease | AR | ||
| LDHA | 150000 | Glycogen storage disease XI | AR |
| LDLR | 606945 | LDL cholesterol level QTL2 | AD, AR |
| Hypercholesterolemia, familial, 1 | AD, AR | ||
| LDLRAP1 | 605747 | Hypercholesterolemia, familial, 4 | AR |
| LIPA | 613497 | Wolman disease | AR |
| Cholesteryl ester storage disease | AR | ||
| LIPC | 151670 | [High density lipoprotein cholesterol level QTL 12] | - |
| Hepatic lipase deficiency | AR | ||
| Diabetes mellitus, noninsulin-dependent | AD | ||
| LMBRD1 | 612625 | Methylmalonic aciduria and homocystinuria, cblF type | AR |
| LPL | 609708 | [High density lipoprotein cholesterol level QTL 11] | AR |
| Combined hyperlipidemia, familial | AD | ||
| Lipoprotein lipase deficiency | AR | ||
| MAN2B1 | 609458 | Mannosidosis, alpha-, types I and II | AR |
| MANBA | 609489 | Mannosidosis, beta | AR |
| MCOLN1 | 605248 | Mucolipidosis IV | AR |
| MFSD8 | 611124 | Ceroid lipofuscinosis, neuronal, 7 | AR |
| Macular dystrophy with central cone involvement | AR | ||
| MMAA | 607481 | Methylmalonic aciduria, vitamin B12-responsive | AR |
| MMAB | 607568 | Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type | AR |
| MMACHC | 609831 | Methylmalonic aciduria and homocystinuria, cblC type | AR |
| MMADHC | 611935 | Methylmalonic aciduria and homocystinuria, cblD type | AR |
| Methylmalonic aciduria, cblD type, variant 2 | AR | ||
| Homocystinuria, cblD type, variant 1 | AR | ||
| MMUT | 609058 | Methylmalonic aciduria, mut(0) type | AR |
| NAGA | 104170 | Schindler disease, type III | AR |
| Kanzaki disease | AR | ||
| Schindler disease, type I | AR | ||
| NAGLU | 609701 | ?Charcot-Marie-Tooth disease, axonal, type 2V | AD |
| Mucopolysaccharidosis type IIIB (Sanfilippo B) | AR | ||
| NAGS | 608300 | N-acetylglutamate synthase deficiency | AR |
| NEU1 | 608272 | Sialidosis, type I | AR |
| Sialidosis, type II | AR | ||
| NPC1 | 607623 | Niemann-Pick disease, type C1 | AR |
| Niemann-Pick disease, type D | AR | ||
| NPC2 | 601015 | Niemann-pick disease, type C2 | AR |
| OTC | 300461 | Ornithine transcarbamylase deficiency | XL |
| PAH | 612349 | Phenylketonuria | AR |
| [Hyperphenylalaninemia, non-PKU mild] | AR | ||
| PCSK9 | 607786 | Hypercholesterolemia, familial, 3 | AD |
| Low density lipoprotein cholesterol level QTL 1 | AD | ||
| PDHB | 179060 | Pyruvate dehydrogenase E1-beta deficiency | AR |
| PEX1 | 602136 | Peroxisome biogenesis disorder 1A (Zellweger) | AR |
| Peroxisome biogenesis disorder 1B (NALD/IRD) | AR | ||
| Heimler syndrome 1 | AR | ||
| PEX10 | 602859 | Peroxisome biogenesis disorder 6A (Zellweger) | AR |
| Peroxisome biogenesis disorder 6B | AR | ||
| PEX12 | 601758 | Peroxisome biogenesis disorder 3B | AR |
| Peroxisome biogenesis disorder 3A (Zellweger) | AR | ||
| PEX13 | 601789 | Peroxisome biogenesis disorder 11B | AR |
| Peroxisome biogenesis disorder 11A (Zellweger) | AR | ||
| PEX14 | 601791 | Peroxisome biogenesis disorder 13A (Zellweger) | AR |
| PEX16 | 603360 | Peroxisome biogenesis disorder 8A (Zellweger) | AR |
| Peroxisome biogenesis disorder 8B | AR | ||
| PEX19 | 600279 | Peroxisome biogenesis disorder 12A (Zellweger) | AR |
| PEX2 | 170993 | Peroxisome biogenesis disorder 5B | AR |
| Peroxisome biogenesis disorder 5A (Zellweger) | AR | ||
| PEX26 | 608666 | Peroxisome biogenesis disorder 7A (Zellweger) | AR |
| Peroxisome biogenesis disorder 7B | AR | ||
| PEX3 | 603164 | Peroxisome biogenesis disorder 10A (Zellweger) | AR |
| ?Peroxisome biogenesis disorder 10B | AR | ||
| PEX5 | 600414 | Rhizomelic chondrodysplasia punctata, type 5 | AR |
| Peroxisome biogenesis disorder 2B | AR | ||
| Peroxisome biogenesis disorder 2A (Zellweger) | AR | ||
| PEX6 | - | Peroxisome biogenesis disorder 4B | AD, AR |
| Peroxisome biogenesis disorder 4A (Zellweger) | AR | ||
| Heimler syndrome 2 | AR | ||
| PEX7 | 601757 | Peroxisome biogenesis disorder 9B | AR |
| Rhizomelic chondrodysplasia punctata, type 1 | AR | ||
| PFKM | 610681 | Glycogen storage disease VII | AR |
| PGAM2 | 612931 | Glycogen storage disease X | AR |
| PGK1 | 311800 | Phosphoglycerate kinase 1 deficiency | XLR |
| PGM1 | 171900 | Congenital disorder of glycosylation, type It | AR |
| PHKA1 | 311870 | Muscle glycogenosis | XLR |
| PHKA2 | 300798 | Glycogen storage disease, type IXa1 | XLR |
| Glycogen storage disease, type IXa2 | XLR | ||
| PHKB | 172490 | Phosphorylase kinase deficiency of liver and muscle, autosomal recessive | AR |
| PHKG2 | 172471 | Glycogen storage disease IXc | AR |
| PKLR | 609712 | Adenosine triphosphate, elevated, of erythrocytes | AD |
| Pyruvate kinase deficiency | AR | ||
| PNPO | 603287 | Pyridoxamine 5'-phosphate oxidase deficiency | AR |
| POR | 124015 | Disordered steroidogenesis due to cytochrome P450 oxidoreductase | - |
| Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis | AR | ||
| PPOX | 600923 | Porphyria variegata | AD |
| PPT1 | 600722 | Ceroid lipofuscinosis, neuronal, 1 | AR |
| PRKAG2 | 602743 | Glycogen storage disease of heart, lethal congenital | AD |
| Cardiomyopathy, hypertrophic 6 | AD | ||
| Wolff-Parkinson-White syndrome | AD | ||
| PSAP | 176801 | Combined SAP deficiency | AR |
| Gaucher disease, atypical | - | ||
| Krabbe disease, atypical | AR | ||
| Parkinson disease 24, autosomal dominant, susceptibility to | AD | ||
| Metachromatic leukodystrophy due to SAP-b deficiency | AR | ||
| PYGL | 613741 | Glycogen storage disease VI | AR |
| PYGM | 608455 | McArdle disease | AR |
| RBCK1 | 610924 | Polyglucosan body myopathy 1 with or without immunodeficiency | AR |
| SGSH | 605270 | Mucopolysaccharidosis type IIIA (Sanfilippo A) | AR |
| SI | 609845 | Sucrase-isomaltase deficiency, congenital | AR |
| SLC17A5 | 604322 | Sialic acid storage disorder, infantile | AR |
| Salla disease | AR | ||
| SLC22A5 | 603377 | Carnitine deficiency, systemic primary | AR |
| SLC25A13 | 603859 | Citrullinemia, type II, neonatal-onset | AR |
| Citrullinemia, adult-onset type II | AR | ||
| SLC25A15 | 603861 | Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome | AR |
| SLC25A20 | 613698 | Carnitine-acylcarnitine translocase deficiency | AR |
| SLC2A1 | 138140 | GLUT1 deficiency syndrome 2, childhood onset | AD |
| GLUT1 deficiency syndrome 1, infantile onset, severe | AD, AR | ||
| Epilepsy, idiopathic generalized, susceptibility to, 12 | AD | ||
| Stomatin-deficient cryohydrocytosis with neurologic defects | AD | ||
| Dystonia 9 | AD | ||
| SLC2A2 | 138160 | Fanconi-Bickel syndrome | AR |
| Diabetes mellitus, noninsulin-dependent | AD | ||
| SLC37A4 | 602671 | Glycogen storage disease Ib | AR |
| Congenital disorder of glycosylation, type IIw | AD | ||
| Glycogen storage disease Ic | AR | ||
| SLC3A1 | 104614 | Cystinuria | AD, AR |
| SLC40A1 | 604653 | Hemochromatosis, type 4 | AD |
| SLC6A19 | 608893 | Iminoglycinuria, digenic | AR, DR |
| Hyperglycinuria | AD | ||
| Hartnup disorder | AR | ||
| SLC6A8 | 300036 | Cerebral creatine deficiency syndrome 1 | XLR |
| SLC7A7 | 603593 | Lysinuric protein intolerance | AR |
| SLC7A9 | 604144 | Cystinuria | AD, AR |
| SLCO1B1 | 604843 | Hyperbilirubinemia, Rotor type, digenic | DR |
| SLCO1B3 | 605495 | Hyperbilirubinemia, Rotor type, digenic | DR |
| SMPD1 | 607608 | Niemann-Pick disease, type A | AR |
| Niemann-Pick disease, type B | AR | ||
| SUMF1 | 607939 | Multiple sulfatase deficiency | AR |
| TAT | 613018 | Tyrosinemia, type II | AR |
| TFR2 | 604720 | Hemochromatosis, type 3 | AR |
| TPP1 | 607998 | Ceroid lipofuscinosis, neuronal, 2 | AR |
| Spinocerebellar ataxia, autosomal recessive 7 | AR | ||
| UGT1A1 | 191740 | [Gilbert syndrome] | AR |
| Crigler-Najjar syndrome, type II | AR | ||
| Crigler-Najjar syndrome, type I | AR | ||
| Hyperbilirubinemia, familial transient neonatal | AD, AR | ||
| [Bilirubin, serum level of, QTL1] | - | ||
| UMPS | 613891 | Orotic aciduria | AR |
| UROD | 613521 | Porphyria, hepatoerythropoietic | AD, AR |
| Porphyria cutanea tarda | AD, AR | ||
| UROS | 606938 | Porphyria, congenital erythropoietic | AR |
Common syndromes and disorders covered
- Congenital disorders of glycosylation and other disorders of protein modification
- Defects in cholesterol and lipoprotein metabolism
- Defects in hormone biogenesis or function
- Disorder of phosphate, calcium and vitamin D metabolism
- Disorders in the metabolism of purines, pyrimidines and nucleotides
- Disorders in the metabolism of trace elements and metals
- Disorders in the metabolism of vitamins and (non-protein) cofactors
- Disorders of amino acid and peptide metabolism
- Disorders of carbohydrate metabolism
- Disorders of energy metabolism
- Disorders of fatty acid and ketone body metabolism
- Disorders of lipid and lipoprotein metabolism
- Disorders of neurotransmitter metabolism
- Disorders of porphyrin and heme metabolism
- Disorders of the metabolism of sterols
- Lysosomal disorders
- Peroxisomal disorders
- Porphyria and bilirubinemia
Downloads
CentoMetabolic MOx – Product Sheet
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CentoMito® comprehensive
CentoMito® comprehensive covers the entire mitochondrial genome with detection of heteroplasmy down to 15.0 % and tests for nuclear genes related to mitochondrial diseases. Mitochondrial diseases are genetic conditions that occur when mitochondria fail to produce enough energy for the cell. Genetic mutations related to mitochondria cause symptoms mainly in organs, that consume large amounts of energy. These organs include the eye, kidney, pancreas, blood, inner ear, colon, skeletal muscle, heart, and brain.
| No. of genes: | 451 |
|---|---|
| TAT: | 25 business days |
| Coverage: | ≥99.00% ≥20x |
| Details: |
NGS including CNV analysis
|
| Gene | OMIM (Gene) | Associated diseases (OMIM) | Inheritance |
|---|---|---|---|
| AARS2 | 612035 | Combined oxidative phosphorylation deficiency 8 | AR |
| Leukoencephalopathy, progressive, with ovarian failure | AR | ||
| AASS | 605113 | Hyperlysinemia | AR |
| ABAT | 137150 | GABA-transaminase deficiency | AR |
| ABCB6 | 605452 | Microphthalmia, isolated, with coloboma 7 | AD |
| [Blood group, Langereis system] | - | ||
| Dyschromatosis universalis hereditaria 3 | AD | ||
| Pseudohyperkalemia, familial, 2, due to red cell leak | AD | ||
| ABCB7 | 300135 | Anemia, sideroblastic, with ataxia | XLR |
| ABCD1 | 300371 | Adrenoleukodystrophy | XLR |
| Adrenomyeloneuropathy, adult | XLR | ||
| ABCD3 | 170995 | ?Bile acid synthesis defect, congenital, 5 | AR |
| ACACA | 200350 | Acetyl-CoA carboxylase deficiency | AR |
| ACAD8 | 604773 | Isobutyryl-CoA dehydrogenase deficiency | AR |
| ACAD9 | 611103 | Mitochondrial complex I deficiency, nuclear type 20 | AR |
| ACADM | 607008 | Acyl-CoA dehydrogenase, medium chain, deficiency of | AR |
| ACADS | 606885 | Acyl-CoA dehydrogenase, short-chain, deficiency of | AR |
| ACADSB | 600301 | 2-methylbutyrylglycinuria | AR |
| ACADVL | 609575 | VLCAD deficiency | AR |
| ACAT1 | 607809 | Alpha-methylacetoacetic aciduria | AR |
| ACO2 | 100850 | ?Optic atrophy 9 | AR |
| Infantile cerebellar-retinal degeneration | AR | ||
| ACOX1 | 609751 | Peroxisomal acyl-CoA oxidase deficiency | AR |
| Mitchell syndrome | AD | ||
| ACSF3 | 614245 | Combined malonic and methylmalonic aciduria | - |
| ACSL4 | 300157 | Mental retardation, X-linked 63 | XLD |
| ADAR | 146920 | Aicardi-Goutieres syndrome 6 | AR |
| Dyschromatosis symmetrica hereditaria | AD | ||
| AFG3L2 | 604581 | Spinocerebellar ataxia 28 | AD |
| Spastic ataxia 5, autosomal recessive | AR | ||
| Optic atrophy 12 | AD | ||
| AGK | 610345 | Sengers syndrome | AR |
| Cataract 38, autosomal recessive | AR | ||
| AGXT | 604285 | Hyperoxaluria, primary, type 1 | AR |
| AIFM1 | 300169 | Cowchock syndrome | XLR |
| Combined oxidative phosphorylation deficiency 6 | XLR | ||
| Deafness, X-linked 5 | XLR | ||
| Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy | XLR | ||
| AK2 | 103020 | Reticular dysgenesis | AR |
| ALAS2 | 301300 | Protoporphyria, erythropoietic, X-linked | XL |
| Anemia, sideroblastic, 1 | XLR | ||
| ALDH18A1 | 138250 | Cutis laxa, autosomal dominant 3 | AD |
| Cutis laxa, autosomal recessive, type IIIA | AR | ||
| Spastic paraplegia 9B, autosomal recessive | AR | ||
| Spastic paraplegia 9A, autosomal dominant | AD | ||
| ALDH2 | 100650 | Alcohol sensitivity, acute | AD |
| Hangover, susceptibility to | AD | ||
| ALDH3A2 | 609523 | Sjogren-Larsson syndrome | AR |
| ALDH4A1 | 606811 | Hyperprolinemia, type II | AR |
| ALDH5A1 | 610045 | Succinic semialdehyde dehydrogenase deficiency | AR |
| ALDH6A1 | 603178 | Methylmalonate semialdehyde dehydrogenase deficiency | AR |
| ALDH7A1 | 107323 | Epilepsy, pyridoxine-dependent | AR |
| AMACR | 604489 | Bile acid synthesis defect, congenital, 4 | AR |
| Alpha-methylacyl-CoA racemase deficiency | AR | ||
| AMPD1 | 102770 | Myopathy due to myoadenylate deaminase deficiency | AR |
| AMT | 238310 | Glycine encephalopathy | AR |
| APTX | 606350 | Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | AR |
| ATIC | 601731 | AICA-ribosiduria due to ATIC deficiency | AR |
| ATP5F1A | 164360 | ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4 | AR |
| ?Combined oxidative phosphorylation deficiency 22 | AR | ||
| ATP5F1E | 606153 | ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 | AR |
| ATP7B | 606882 | Wilson disease | AR |
| ATPAF2 | 608918 | ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 | AR |
| AUH | 600529 | 3-methylglutaconic aciduria, type I | AR |
| BAG3 | 603883 | Cardiomyopathy, dilated, 1HH | AD |
| Myopathy, myofibrillar, 6 | AD | ||
| BCKDHA | 608348 | Maple syrup urine disease, type Ia | AR |
| BCKDHB | 248611 | Maple syrup urine disease, type Ib | AR |
| BCKDK | 614901 | Branched-chain ketoacid dehydrogenase kinase deficiency | - |
| BCS1L | 603647 | GRACILE syndrome | AR |
| Bjornstad syndrome | AR | ||
| Mitochondrial complex III deficiency, nuclear type 1 | AR | ||
| BOLA3 | 613183 | Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia | AR |
| BTD | 609019 | Biotinidase deficiency | AR |
| C19orf12 | 614297 | Neurodegeneration with brain iron accumulation 4 | AD, AR |
| ?Spastic paraplegia 43, autosomal recessive | AR | ||
| C1QBP | 601269 | Combined oxidative phosphorylation deficiency 33 | AR |
| CA5A | 114761 | Hyperammonemia due to carbonic anhydrase VA deficiency | AR |
| CARS2 | 612800 | Combined oxidative phosphorylation deficiency 27 | AR |
| CAT | 115500 | Acatalasemia | - |
| CAVIN1 | 603198 | Lipodystrophy, congenital generalized, type 4 | AR |
| CEL | 114840 | Maturity-onset diabetes of the young, type VIII | AD |
| CHAT | 118490 | Myasthenic syndrome, congenital, 6, presynaptic | AR |
| CHCHD10 | 615903 | ?Myopathy, isolated mitochondrial, autosomal dominant | AD |
| Spinal muscular atrophy, Jokela type | AD | ||
| Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 | AD | ||
| CISD2 | 611507 | Wolfram syndrome 2 | AR |
| CLPB | 616254 | 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia | AR |
| 3-methylglutaconic aciduria, type VIIA, autosomal dominant | AD | ||
| Neutropenia, severe congenital, 9, autosomal dominant | AD | ||
| CLPP | 601119 | Perrault syndrome 3 | AR |
| COA5 | 613920 | ?Mitochondrial complex IV, deficiency, nuclear type 9 | AR |
| COA6 | 614772 | Mitochondrial complex IV deficiency, nuclear type 13 | AR |
| COA7 | 615623 | Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 | AR |
| COA8 | 616003 | Mitochondrial complex IV deficiency, nuclear type 17 | AR |
| COASY | 609855 | Neurodegeneration with brain iron accumulation 6 | AR |
| Pontocerebellar hypoplasia, type 12 | AR | ||
| COMT | 116790 | Panic disorder, susceptibility to | ?AD |
| Schizophrenia, susceptibility to | AD | ||
| COQ2 | 609825 | Coenzyme Q10 deficiency, primary, 1 | AR |
| Multiple system atrophy, susceptibility to | AD, AR | ||
| COQ4 | 612898 | Coenzyme Q10 deficiency, primary, 7 | AR |
| COQ6 | 614647 | Coenzyme Q10 deficiency, primary, 6 | AR |
| COQ7 | 601683 | ?Coenzyme Q10 deficiency, primary, 8 | AR |
| COQ8A | 606980 | Coenzyme Q10 deficiency, primary, 4 | AR |
| COQ8B | 615567 | Nephrotic syndrome, type 9 | AR |
| COQ9 | 612837 | Coenzyme Q10 deficiency, primary, 5 | AR |
| COX10 | 602125 | Mitochondrial complex IV deficiency, nuclear type 3 | AR |
| COX14 | 614478 | ?Mitochondrial complex IV deficiency, nuclear type 10 | AR |
| COX15 | 603646 | Mitochondrial complex IV deficiency, nuclear type 6 | AR |
| COX20 | 614698 | Mitochondrial complex IV deficiency, nuclear type 11 | AR |
| COX4I2 | 607976 | Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis | AR |
| COX6A1 | 602072 | Charcot-Marie-Tooth disease, recessive intermediate D | AR |
| COX6B1 | 124089 | Mitochondrial complex IV deficiency, nuclear type 7 | AR |
| COX7B | 300885 | Linear skin defects with multiple congenital anomalies 2 | XLD |
| CPOX | 612732 | Harderoporphyria | AR |
| Coproporphyria | AD, AR | ||
| CPS1 | 608307 | Carbamoylphosphate synthetase I deficiency | AR |
| Pulmonary hypertension, neonatal, susceptibility to | - | ||
| CPT1A | 600528 | CPT deficiency, hepatic, type IA | AR |
| CPT1C | 608846 | ?Spastic paraplegia 73, autosomal dominant | AD |
| CPT2 | 600650 | CPT II deficiency, myopathic, stress-induced | AD, AR |
| CPT II deficiency, infantile | AR | ||
| Encephalopathy, acute, infection-induced, 4, susceptibility to | AD, AR | ||
| CPT II deficiency, lethal neonatal | AR | ||
| CRBN | 609262 | Mental retardation, autosomal recessive 2 | AR |
| CYB5A | 613218 | Methemoglobinemia and ambiguous genitalia | AR |
| CYB5R3 | 613213 | Methemoglobinemia, type I | AR |
| Methemoglobinemia, type II | AR | ||
| CYC1 | 123980 | Mitochondrial complex III deficiency, nuclear type 6 | AR |
| CYCS | 123970 | Thrombocytopenia 4 | AD |
| CYP11A1 | 118485 | Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete | - |
| CYP11B1 | 610613 | Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency | AR |
| Aldosteronism, glucocorticoid-remediable | AD | ||
| CYP11B2 | 124080 | Hypoaldosteronism, congenital, due to CMO II deficiency | AR |
| Hypoaldosteronism, congenital, due to CMO I deficiency | AR | ||
| CYP24A1 | 126065 | Hypercalcemia, infantile, 1 | AR |
| CYP27A1 | 606530 | Cerebrotendinous xanthomatosis | AR |
| CYP27B1 | 609506 | Vitamin D-dependent rickets, type I | AR |
| D2HGDH | 609186 | D-2-hydroxyglutaric aciduria | AR |
| DARS2 | 610956 | Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation | AR |
| DBT | 248610 | Maple syrup urine disease, type II | AR |
| DGUOK | - | Portal hypertension, noncirrhotic | AR |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 | AR | ||
| Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) | AR | ||
| DHCR24 | 606418 | Desmosterolosis | AR |
| DHODH | 126064 | Miller syndrome | AR |
| DHTKD1 | 614984 | 2-aminoadipic 2-oxoadipic aciduria | AR |
| ?Charcot-Marie-Tooth disease, axonal, type 2Q | AD | ||
| DIABLO | 605219 | Deafness, autosomal dominant 64 | AD |
| DLAT | 608770 | Pyruvate dehydrogenase E2 deficiency | AR |
| DLD | 238331 | Dihydrolipoamide dehydrogenase deficiency | AR |
| DMGDH | 605849 | Dimethylglycine dehydrogenase deficiency | AR |
| DNA2 | 601810 | ?Seckel syndrome 8 | AR |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 | AD | ||
| DNAJC19 | 608977 | 3-methylglutaconic aciduria, type V | AR |
| DNM1L | 603850 | Optic atrophy 5 | AD |
| Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 | AD, AR | ||
| EARS2 | 612799 | Combined oxidative phosphorylation deficiency 12 | AR |
| ECHS1 | 602292 | Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency | AR |
| ELAC2 | 605367 | Prostate cancer, hereditary, 2, susceptibility to | - |
| Combined oxidative phosphorylation deficiency 17 | AR | ||
| EPHX2 | 132811 | Hypercholesterolemia, familial, due to LDLR defect, modifier of | AD, AR |
| ETFA | - | Glutaric acidemia IIA | AR |
| ETFB | 130410 | Glutaric acidemia IIB | AR |
| ETFDH | 231675 | Glutaric acidemia IIC | AR |
| ETHE1 | 608451 | Ethylmalonic encephalopathy | AR |
| FAH | 613871 | Tyrosinemia, type I | AR |
| FARS2 | 611592 | Combined oxidative phosphorylation deficiency 14 | AR |
| Spastic paraplegia 77, autosomal recessive | AR | ||
| FASTKD2 | 612322 | Combined oxidative phosphorylation deficiency 44 | AR |
| FBXL4 | 605654 | Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) | AR |
| FDX2 | 614585 | Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy | AR |
| FECH | 612386 | Protoporphyria, erythropoietic, 1 | AR |
| FH | 136850 | Fumarase deficiency | AR |
| Leiomyomatosis and renal cell cancer | AD | ||
| FKBP10 | 607063 | Osteogenesis imperfecta, type XI | AR |
| Bruck syndrome 1 | AR | ||
| FLAD1 | 610595 | Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency | AR |
| FOXRED1 | 613622 | Mitochondrial complex I deficiency, nuclear type 19 | AR |
| FXN | 606829 | Friedreich ataxia | AR |
| Friedreich ataxia with retained reflexes | AR | ||
| GAMT | 601240 | Cerebral creatine deficiency syndrome 2 | AR |
| GARS1 | 600287 | Spinal muscular atrophy, infantile, James type | AD |
| Charcot-Marie-Tooth disease, type 2D | AD | ||
| Neuronopathy, distal hereditary motor, type VA | AD | ||
| GATM | 602360 | Cerebral creatine deficiency syndrome 3 | AR |
| Fanconi renotubular syndrome 1 | AD | ||
| GCDH | 608801 | Glutaricaciduria, type I | AR |
| GCSH | 238330 | ?Glycine encephalopathy | AR |
| GDAP1 | 606598 | Charcot-Marie-Tooth disease, axonal, type 2K | AD, AR |
| Charcot-Marie-Tooth disease, type 4A | AR | ||
| Charcot-Marie-Tooth disease, axonal, with vocal cord paresis | AR | ||
| Charcot-Marie-Tooth disease, recessive intermediate, A | AR | ||
| GFER | 600924 | Myopathy, mitochondrial progressive, with congenital cataract and developmental delay | AR |
| GFM1 | 606639 | Combined oxidative phosphorylation deficiency 1 | AR |
| GFM2 | 606544 | Combined oxidative phosphorylation deficiency 39 | AR |
| GK | - | Glycerol kinase deficiency | XLR |
| GLDC | 238300 | Glycine encephalopathy | AR |
| GLRX5 | 609588 | Spasticity, childhood-onset, with hyperglycinemia | AR |
| Anemia, sideroblastic, 3, pyridoxine-refractory | AR | ||
| GLUD1 | 138130 | Hyperinsulinism-hyperammonemia syndrome | AD |
| GLYCTK | 610516 | D-glyceric aciduria | AR |
| GPI | 172400 | Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency | AR |
| GPT2 | 138210 | Neurodevelopmental disorder with microcephaly and spastic paraplegia | AR |
| GPX1 | 138320 | Hemolytic anemia due to glutathione peroxidase deficiency | AR |
| GRHPR | 604296 | Hyperoxaluria, primary, type II | AR |
| GSR | 138300 | Hemolytic anemia due to glutathione reductase deficiency | AR |
| GTPBP3 | 608536 | Combined oxidative phosphorylation deficiency 23 | AR |
| HADH | 601609 | 3-hydroxyacyl-CoA dehydrogenase deficiency | AR |
| Hyperinsulinemic hypoglycemia, familial, 4 | AR | ||
| HADHA | 600890 | HELLP syndrome, maternal, of pregnancy | AR |
| LCHAD deficiency | AR | ||
| Fatty liver, acute, of pregnancy | AR | ||
| Mitochondrial trifunctional protein deficiency | AR | ||
| HADHB | 143450 | Trifunctional protein deficiency | AR |
| HAMP | 606464 | Hemochromatosis, type 2B | AR |
| HARS2 | 600783 | Perrault syndrome 2 | AR |
| HAX1 | 605998 | Neutropenia, severe congenital 3, autosomal recessive | AR |
| HCCS | 300056 | Linear skin defects with multiple congenital anomalies 1 | XLD |
| HIBCH | 610690 | 3-hydroxyisobutryl-CoA hydrolase deficiency | AR |
| HINT1 | 601314 | Neuromyotonia and axonal neuropathy, autosomal recessive | AR |
| HK1 | 142600 | Retinitis pigmentosa 79 | AD |
| Hemolytic anemia due to hexokinase deficiency | AR | ||
| Neurodevelopmental disorder with visual defects and brain anomalies | AD | ||
| Neuropathy, hereditary motor and sensory, Russe type | AR | ||
| HLCS | 609018 | Holocarboxylase synthetase deficiency | AR |
| HMBS | 609806 | Porphyria, acute intermittent | AD |
| Porphyria, acute intermittent, nonerythroid variant | AD | ||
| HMGCL | 613898 | HMG-CoA lyase deficiency | AR |
| HMGCS2 | 600234 | HMG-CoA synthase-2 deficiency | AR |
| HOGA1 | 613597 | Hyperoxaluria, primary, type III | AR |
| HSD17B10 | 300256 | HSD10 mitochondrial disease | XLD |
| HSD17B4 | 601860 | Perrault syndrome 1 | AR |
| D-bifunctional protein deficiency | AR | ||
| HSD3B2 | 613890 | Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency | AR |
| HSPA9 | 600548 | Even-plus syndrome | AR |
| Anemia, sideroblastic, 4 | AD | ||
| HSPD1 | 118190 | Leukodystrophy, hypomyelinating, 4 | AR |
| Spastic paraplegia 13, autosomal dominant | AD | ||
| HTRA2 | 606441 | Parkinson disease 13 | - |
| 3-methylglutaconic aciduria, type VIII | AR | ||
| IARS2 | 612801 | ?Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia | AR |
| IBA57 | 615316 | ?Spastic paraplegia 74, autosomal recessive | AR |
| Multiple mitochondrial dysfunctions syndrome 3 | AR | ||
| IDH2 | 147650 | D-2-hydroxyglutaric aciduria 2 | - |
| IDH3B | 604526 | Retinitis pigmentosa 46 | AR |
| IFIH1 | 606951 | Aicardi-Goutieres syndrome 7 | AD |
| Singleton-Merten syndrome 1 | AD | ||
| Immunodeficiency 95 | AR | ||
| ISCA1 | 611006 | Multiple mitochondrial dysfunctions syndrome 5 | AR |
| ISCA2 | 615317 | Multiple mitochondrial dysfunctions syndrome 4 | AR |
| ISCU | 611911 | Myopathy with lactic acidosis, hereditary | AR |
| IVD | 607036 | Isovaleric acidemia | AR |
| KARS1 | 601421 | ?Charcot-Marie-Tooth disease, recessive intermediate, B | AR |
| Deafness, congenital, and adult-onset progressive leukoencephalopathy | AR | ||
| Leukoencephalopathy, progressive, infantile-onset, with or without deafness | AR | ||
| Deafness, autosomal recessive 89 | AR | ||
| KRT5 | 148040 | Epidermolysis bullosa simplex-MP | AD |
| Epidermolysis bullosa simplex, Koebner type | AD | ||
| Epidermolysis bullosa simplex, recessive 1 | AR | ||
| Epidermolysis bullosa simplex, Weber-Cockayne type | AD | ||
| Epidermolysis bullosa simplex 2B, generalized intermediate | AD | ||
| Epidermolysis bullosa simplex 2A, generalized severe | AD | ||
| Epidermolysis bullosa simplex-MCR | - | ||
| Dowling-Degos disease 1 | AD | ||
| Epidermolysis bullosa simplex 2C, localized | AD | ||
| Epidermolysis bullosa simplex, Dowling-Meara type | AD | ||
| Epidermolysis bullosa simplex 2D, generalized, intermediate or severe, autosomal recessive | AR | ||
| KRT8 | 148060 | Cirrhosis, cryptogenic | AR |
| Cirrhosis, noncryptogenic, susceptibility to | AR | ||
| L2HGDH | 609584 | L-2-hydroxyglutaric aciduria | AR |
| LAMP2 | 309060 | Danon disease | XLD |
| LARS2 | 604544 | ?Hydrops, lactic acidosis, and sideroblastic anemia | AR |
| Perrault syndrome 4 | AR | ||
| LIAS | 607031 | Hyperglycinemia, lactic acidosis, and seizures | AR |
| LIPT1 | 610284 | Lipoyltransferase 1 deficiency | AR |
| LIPT2 | 617659 | Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities | AR |
| LMBRD1 | 612625 | Methylmalonic aciduria and homocystinuria, cblF type | AR |
| LONP1 | 605490 | CODAS syndrome | AR |
| LRPPRC | 607544 | Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian) | AR |
| LYRM7 | 615831 | Mitochondrial complex III deficiency, nuclear type 8 | AR |
| MAOA | 309850 | Antisocial behavior | XLR |
| Brunner syndrome | XLR | ||
| MARS2 | 609728 | Spastic ataxia 3, autosomal recessive | AR |
| ?Combined oxidative phosphorylation deficiency 25 | AR | ||
| MCCC1 | 609010 | 3-Methylcrotonyl-CoA carboxylase 1 deficiency | AR |
| MCCC2 | 609014 | 3-Methylcrotonyl-CoA carboxylase 2 deficiency | AR |
| MCEE | 608419 | Methylmalonyl-CoA epimerase deficiency | AR |
| MECR | 608205 | Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities | AR |
| MFF | 614785 | Encephalopathy due to defective mitochondrial and peroxisomal fission 2 | AR |
| MFN2 | 608507 | Hereditary motor and sensory neuropathy VIA | AD |
| Charcot-Marie-Tooth disease, axonal, type 2A2B | AR | ||
| Charcot-Marie-Tooth disease, axonal, type 2A2A | AD | ||
| MGME1 | 615076 | Mitochondrial DNA depletion syndrome 11 | AR |
| MICU1 | 605084 | Myopathy with extrapyramidal signs | AR |
| MIPEP | 602241 | Combined oxidative phosphorylation deficiency 31 | AR |
| MLYCD | 606761 | Malonyl-CoA decarboxylase deficiency | AR |
| MMAA | 607481 | Methylmalonic aciduria, vitamin B12-responsive | AR |
| MMAB | 607568 | Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type | AR |
| MMACHC | 609831 | Methylmalonic aciduria and homocystinuria, cblC type | AR |
| MMADHC | 611935 | Methylmalonic aciduria and homocystinuria, cblD type | AR |
| Methylmalonic aciduria, cblD type, variant 2 | AR | ||
| Homocystinuria, cblD type, variant 1 | AR | ||
| MMUT | 609058 | Methylmalonic aciduria, mut(0) type | AR |
| MOCS1 | 603707 | Molybdenum cofactor deficiency A | AR |
| MPC1 | 614738 | Mitochondrial pyruvate carrier deficiency | AR |
| MPV17 | 137960 | Charcot-Marie-Tooth disease, axonal, type 2EE | AR |
| Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | AR | ||
| MRPL3 | 607118 | Combined oxidative phosphorylation deficiency 9 | AR |
| MRPL44 | 611849 | ?Combined oxidative phosphorylation deficiency 16 | AR |
| MRPS16 | 609204 | Combined oxidative phosphorylation deficiency 2 | AR |
| MRPS2 | 611971 | Combined oxidative phosphorylation deficiency 36 | AR |
| MRPS22 | 605810 | Ovarian dysgenesis 7 | AR |
| Combined oxidative phosphorylation deficiency 5 | AR | ||
| MRPS34 | 611994 | Combined oxidative phosphorylation deficiency 32 | AR |
| MSRB3 | 613719 | Deafness, autosomal recessive 74 | AR |
| MSTO1 | 617619 | Myopathy, mitochondrial, and ataxia | AD, AR |
| MTFMT | 611766 | Combined oxidative phosphorylation deficiency 15 | AR |
| Mitochondrial complex I deficiency, nuclear type 27 | AR | ||
| MTHFD1 | 172460 | Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia | AR |
| Neural tube defects, folate-sensitive, susceptibility to | AR | ||
| MTO1 | 614667 | Combined oxidative phosphorylation deficiency 10 | AR |
| MTPAP | 613669 | ?Spastic ataxia 4, autosomal recessive | AR |
| MTRFR | 613541 | Spastic paraplegia 55, autosomal recessive | AR |
| Combined oxidative phosphorylation deficiency 7 | AR | ||
| MTRR | 602568 | Homocystinuria-megaloblastic anemia, cbl E type | AR |
| Neural tube defects, folate-sensitive, susceptibility to | AR | ||
| NADK2 | 615787 | 2, 4-dienoyl-CoA reductase deficiency | AR |
| NAGS | 608300 | N-acetylglutamate synthase deficiency | AR |
| NARS2 | 612803 | ?Deafness, autosomal recessive 94 | AR |
| Combined oxidative phosphorylation deficiency 24 | AR | ||
| NAXE | 608862 | Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy | AR |
| NBAS | 608025 | Short stature, optic nerve atrophy, and Pelger-Huet anomaly | AR |
| Infantile liver failure syndrome 2 | AR | ||
| NDUFA1 | 300078 | Mitochondrial complex I deficiency, nuclear type 12 | XLR |
| NDUFA10 | 603835 | Mitochondrial complex I deficiency, nuclear type 22 | AR |
| NDUFA11 | 612638 | Mitochondrial complex I deficiency, nuclear type 14 | AR |
| NDUFA12 | 614530 | ?Mitochondrial complex I deficiency, nuclear type 23 | AR |
| NDUFA2 | 602137 | Mitochondrial complex I deficiency, nuclear type 13 | AR |
| NDUFA6 | 602138 | Mitochondrial complex I deficiency, nuclear type 33 | AR |
| NDUFA9 | 603834 | Mitochondrial complex I deficiency, nuclear type 26 | AR |
| NDUFAF1 | 606934 | Mitochondrial complex I deficiency, nuclear type 11 | AR |
| NDUFAF2 | 609653 | Mitochondrial complex I deficiency, nuclear type 10 | AR |
| NDUFAF3 | 612911 | Mitochondrial complex I deficiency, nuclear type 18 | AR |
| NDUFAF4 | 611776 | Mitochondrial complex I deficiency, nuclear type 15 | AR |
| NDUFAF5 | 612360 | Mitochondrial complex I deficiency, nuclear type 16 | AR |
| NDUFAF6 | 612392 | Mitochondrial complex I deficiency, nuclear type 17 | AR |
| Fanconi renotubular syndrome 5 | AR | ||
| NDUFB11 | 300403 | Linear skin defects with multiple congenital anomalies 3 | XLD |
| ?Mitochondrial complex I deficiency, nuclear type 30 | XL | ||
| NDUFB3 | 603839 | Mitochondrial complex I deficiency, nuclear type 25 | AR |
| NDUFB8 | 602140 | Mitochondrial complex I deficiency, nuclear type 32 | AR |
| NDUFB9 | - | ?Mitochondrial complex I deficiency, nuclear type 24 | AR |
| NDUFS1 | 157655 | Mitochondrial complex I deficiency, nuclear type 5 | AR |
| NDUFS2 | 602985 | Mitochondrial complex I deficiency, nuclear type 6 | AR |
| NDUFS3 | 603846 | Mitochondrial complex I deficiency, nuclear type 8 | AR |
| NDUFS4 | 602694 | Mitochondrial complex I deficiency, nuclear type 1 | AR |
| NDUFS6 | 603848 | Mitochondrial complex I deficiency, nuclear type 9 | AR |
| NDUFS7 | 601825 | Mitochondrial complex I deficiency, nuclear type 3 | AR |
| NDUFS8 | 602141 | Mitochondrial complex I deficiency, nuclear type 2 | AR |
| NDUFV1 | 161015 | Mitochondrial complex I deficiency, nuclear type 4 | AR |
| NDUFV2 | 600532 | Mitochondrial complex I deficiency, nuclear type 7 | AR |
| NFU1 | - | Multiple mitochondrial dysfunctions syndrome 1 | AR |
| NGLY1 | 610661 | Congenital disorder of deglycosylation | AR |
| NNT | 607878 | Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency | AR |
| NR2F1 | 132890 | Bosch-Boonstra-Schaaf optic atrophy syndrome | AD |
| NTHL1 | 602656 | Familial adenomatous polyposis 3 | AR |
| NUBPL | 613621 | Mitochondrial complex I deficiency, nuclear type 21 | AR |
| NUP62 | 605815 | Striatonigral degeneration, infantile | AR |
| OAT | 613349 | Gyrate atrophy of choroid and retina with or without ornithinemia | AR |
| OGDH | 613022 | Alpha-ketoglutarate dehydrogenase deficiency | AR |
| OPA1 | 605290 | Optic atrophy 1 | AD |
| ?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type) | AR | ||
| Glaucoma, normal tension, susceptibility to | - | ||
| Optic atrophy plus syndrome | AD | ||
| Behr syndrome | AR | ||
| OPA3 | 606580 | 3-methylglutaconic aciduria, type III | AR |
| Optic atrophy 3 with cataract | AD | ||
| OTC | 300461 | Ornithine transcarbamylase deficiency | XL |
| OXCT1 | - | Succinyl CoA:3-oxoacid CoA transferase deficiency | AR |
| P4HB | 176790 | Cole-Carpenter syndrome 1 | AD |
| PAM16 | 614336 | Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type | AR |
| PANK2 | 606157 | HARP syndrome | AR |
| Neurodegeneration with brain iron accumulation 1 | AR | ||
| PARK7 | 602533 | Parkinson disease 7, autosomal recessive early-onset | AR |
| PARS2 | 612036 | Developmental and epileptic encephalopathy 75 | AR |
| PC | 608786 | Pyruvate carboxylase deficiency | AR |
| PCCA | 232000 | Propionicacidemia | AR |
| PCCB | 232050 | Propionicacidemia | AR |
| PCK2 | 614095 | PEPCK deficiency, mitochondrial | AR |
| PDHA1 | - | Pyruvate dehydrogenase E1-alpha deficiency | XLD |
| PDHB | 179060 | Pyruvate dehydrogenase E1-beta deficiency | AR |
| PDHX | 608769 | Lacticacidemia due to PDX1 deficiency | AR |
| PDK3 | 300906 | ?Charcot-Marie-Tooth disease, X-linked dominant, 6 | XLD |
| PDP1 | 605993 | Pyruvate dehydrogenase phosphatase deficiency | AR |
| PDSS1 | 607429 | Coenzyme Q10 deficiency, primary, 2 | AR |
| PDSS2 | 610564 | Coenzyme Q10 deficiency, primary, 3 | AR |
| PDX1 | 600733 | Pancreatic agenesis 1 | AR |
| MODY, type IV | - | ||
| Diabetes mellitus, type II, susceptibility to | AD | ||
| PET100 | 614770 | Mitochondrial complex IV deficiency, nuclear type 12 | AR |
| PEX11B | 603867 | Peroxisome biogenesis disorder 14B | AR |
| PHYH | 602026 | Refsum disease | AR |
| PINK1 | 608309 | Parkinson disease 6, early onset | AR |
| PKLR | 609712 | Adenosine triphosphate, elevated, of erythrocytes | AD |
| Pyruvate kinase deficiency | AR | ||
| PMPCA | 613036 | Spinocerebellar ataxia, autosomal recessive 2 | AR |
| PMPCB | 603131 | Multiple mitochondrial dysfunctions syndrome 6 | AR |
| PNKD | 609023 | Paroxysmal nonkinesigenic dyskinesia 1 | AD |
| PNPLA8 | 612123 | ?Mitochondrial myopathy with lactic acidosis | AR |
| PNPO | 603287 | Pyridoxamine 5'-phosphate oxidase deficiency | AR |
| PNPT1 | 610316 | Deafness, autosomal recessive 70 | AR |
| Combined oxidative phosphorylation deficiency 13 | AR | ||
| Spinocerebellar ataxia 25 | - | ||
| POLG | 174763 | Progressive external ophthalmoplegia, autosomal recessive 1 | AR |
| Progressive external ophthalmoplegia, autosomal dominant 1 | AD | ||
| Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) | AR | ||
| Mitochondrial DNA depletion syndrome 4B (MNGIE type) | AR | ||
| Mitochondrial DNA depletion syndrome 4A (Alpers type) | AR | ||
| POLG2 | 604983 | Mitochondrial DNA depletion syndrome 16 (hepatic type) | AR |
| ?Mitochondrial DNA depletion syndrome 16B (neuroophthalmic type) | AR | ||
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 | AD | ||
| POP1 | 602486 | Anauxetic dysplasia 2 | AR |
| PPOX | 600923 | Porphyria variegata | AD |
| PRODH | 606810 | Schizophrenia, susceptibility to, 4 | AD |
| Hyperprolinemia, type I | AR | ||
| PSAP | 176801 | Combined SAP deficiency | AR |
| Gaucher disease, atypical | - | ||
| Krabbe disease, atypical | AR | ||
| Parkinson disease 24, autosomal dominant, susceptibility to | AD | ||
| Metachromatic leukodystrophy due to SAP-b deficiency | AR | ||
| PTRH2 | 608625 | Infantile-onset multisystem neurologic, endocrine, and pancreatic disease | AR |
| PTS | 612719 | Hyperphenylalaninemia, BH4-deficient, A | AR |
| PUS1 | - | Myopathy, lactic acidosis, and sideroblastic anemia 1 | AR |
| PYCR1 | 179035 | Cutis laxa, autosomal recessive, type IIB | AR |
| Cutis laxa, autosomal recessive, type IIIB | AR | ||
| PYCR2 | 616406 | Leukodystrophy, hypomyelinating, 10 | AR |
| QDPR | 612676 | Hyperphenylalaninemia, BH4-deficient, C | AR |
| RARS1 | 107820 | Leukodystrophy, hypomyelinating, 9 | AR |
| RARS2 | 611524 | Pontocerebellar hypoplasia, type 6 | AR |
| RDH11 | 607849 | ?Retinal dystrophy, juvenile cataracts, and short stature syndrome | AR |
| RMND1 | 614917 | Combined oxidative phosphorylation deficiency 11 | AR |
| RNASEH1 | 604123 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 | AR |
| RNASEH2A | 606034 | Aicardi-Goutieres syndrome 4 | AR |
| RNASEH2B | 610326 | Aicardi-Goutieres syndrome 2 | AR |
| RNASEH2C | 610330 | Aicardi-Goutieres syndrome 3 | AR |
| RPIA | 180430 | Ribose 5-phosphate isomerase deficiency | AR |
| RPL35A | 180468 | Diamond-Blackfan anemia 5 | AD |
| RPS14 | 130620 | Macrocytic anemia, refractory, due to 5q deletion, somatic | - |
| RRM2B | 604712 | Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) | AR |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 | AD | ||
| Mitochondrial DNA depletion syndrome 8B (MNGIE type) | AR | ||
| Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction | AR | ||
| SACS | 604490 | Spastic ataxia, Charlevoix-Saguenay type | AR |
| SARS2 | 612804 | Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis | AR |
| SBDS | 607444 | Aplastic anemia, susceptibility to | - |
| Shwachman-Diamond syndrome | AR | ||
| SCN1A | 182389 | Epilepsy, generalized, with febrile seizures plus, type 2 | AD |
| Migraine, familial hemiplegic, 3 | AD | ||
| Developmental and epileptic encephalopathy 6B, non-Dravet | AD | ||
| Febrile seizures, familial, 3A | AD | ||
| Dravet syndrome | AD | ||
| SCO1 | 603644 | Mitochondrial complex IV deficiency, nuclear type 4 | AR |
| SCO2 | 604272 | Myopia 6 | AD |
| Mitochondrial complex IV deficiency, nuclear type 2 | AR | ||
| SDHA | 600857 | Neurodegeneration with ataxia and late-onset optic atrophy | AD |
| Cardiomyopathy, dilated, 1GG | AR | ||
| Leigh syndrome | AR, Mitochondrial | ||
| Mitochondrial respiratory chain complex II deficiency | AR | ||
| Paragangliomas 5 | AD | ||
| SDHAF1 | 612848 | Mitochondrial complex II deficiency, nuclear type 2 | AR |
| Mitochondrial complex II deficiency | AR | ||
| SDHAF2 | 613019 | Paragangliomas 2 | AD |
| SDHD | 602690 | Mitochondrial complex II deficiency | AR |
| Paraganglioma and gastric stromal sarcoma | - | ||
| Paragangliomas 1, with or without deafness | AD | ||
| Mitochondrial complex II deficiency, nuclear type 3 | AR | ||
| Pheochromocytoma | AD | ||
| SECISBP2 | 607693 | Thyroid hormone metabolism, abnormal | AR |
| SERAC1 | 614725 | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome | AR |
| SFXN4 | 615564 | Combined oxidative phosphorylation deficiency 18 | AR |
| SLC16A1 | 600682 | Hyperinsulinemic hypoglycemia, familial, 7 | AD |
| Erythrocyte lactate transporter defect | AD | ||
| Monocarboxylate transporter 1 deficiency | AD, AR | ||
| SLC19A2 | 603941 | Thiamine-responsive megaloblastic anemia syndrome | AR |
| SLC19A3 | 606152 | Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) | AR |
| SLC22A5 | 603377 | Carnitine deficiency, systemic primary | AR |
| SLC25A1 | 190315 | Myasthenic syndrome, congenital, 23, presynaptic | AR |
| Combined D-2- and L-2-hydroxyglutaric aciduria | AR | ||
| SLC25A12 | 603667 | Developmental and epileptic encephalopathy 39 | AR |
| SLC25A13 | 603859 | Citrullinemia, type II, neonatal-onset | AR |
| Citrullinemia, adult-onset type II | AR | ||
| SLC25A15 | 603861 | Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome | AR |
| SLC25A19 | 606521 | Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type) | AR |
| Microcephaly, Amish type | AR | ||
| SLC25A20 | 613698 | Carnitine-acylcarnitine translocase deficiency | AR |
| SLC25A22 | 609302 | Developmental and epileptic encephalopathy 3 | AR |
| SLC25A26 | 611037 | Combined oxidative phosphorylation deficiency 28 | AR |
| SLC25A3 | 600370 | Mitochondrial phosphate carrier deficiency | AR |
| SLC25A38 | 610819 | Anemia, sideroblastic, 2, pyridoxine-refractory | AR |
| SLC25A4 | 103220 | Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR | AR |
| Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD | AD | ||
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 | AD | ||
| SLC25A42 | 610823 | Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression | AR |
| SLC25A46 | 610826 | Neuropathy, hereditary motor and sensory, type VIB | AR |
| Pontocerebellar hypoplasia, type 1E | AR | ||
| SLC39A8 | 608732 | Congenital disorder of glycosylation, type IIn | AR |
| SLC52A2 | 607882 | Brown-Vialetto-Van Laere syndrome 2 | AR |
| SLC6A8 | 300036 | Cerebral creatine deficiency syndrome 1 | XLR |
| SLC9A6 | 300231 | Mental retardation, X-linked syndromic, Christianson type | XL |
| SNAP29 | 604202 | Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome | AR |
| SOD1 | 147450 | Spastic tetraplegia and axial hypotonia, progressive | AR |
| Amyotrophic lateral sclerosis 1 | AD, AR | ||
| SOD2 | 147460 | Microvascular complications of diabetes 6 | - |
| SPAST | 604277 | Spastic paraplegia 4, autosomal dominant | AD |
| SPG7 | 602783 | Spastic paraplegia 7, autosomal recessive | AD, AR |
| SPR | 182125 | Dystonia, dopa-responsive, due to sepiapterin reductase deficiency | ?AD, AR |
| SPTLC2 | 605713 | Neuropathy, hereditary sensory and autonomic, type IC | AD |
| STAR | 600617 | Lipoid adrenal hyperplasia | AR |
| STAT2 | 600556 | Pseudo-TORCH syndrome 3 | AR |
| Immunodeficiency 44 | AR | ||
| STXBP1 | 602926 | Developmental and epileptic encephalopathy 4 | AD |
| SUCLA2 | 603921 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria) | AR |
| SUCLG1 | 611224 | Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) | AR |
| SUGCT | 609187 | Glutaric aciduria III | AR |
| SUOX | 606887 | Sulfite oxidase deficiency | AR |
| SURF1 | 185620 | Charcot-Marie-Tooth disease, type 4K | AR |
| Mitochondrial complex IV deficiency, nuclear type 1 | AR | ||
| TACO1 | 612958 | Mitochondrial complex IV deficiency, nuclear type 8 | AR |
| TAFAZZIN | 300394 | Barth syndrome | XLR |
| TANGO2 | 616830 | Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration | AR |
| TCIRG1 | 604592 | Osteopetrosis, autosomal recessive 1 | AR |
| TFR2 | 604720 | Hemochromatosis, type 3 | AR |
| TIMM50 | 607381 | 3-methylglutaconic aciduria, type IX | AR |
| TIMM8A | 300356 | Mohr-Tranebjaerg syndrome | XLR |
| TIMMDC1 | 615534 | Mitochondrial complex I deficiency, nuclear type 31 | AR |
| TK2 | 188250 | Mitochondrial DNA depletion syndrome 2 (myopathic type) | AR |
| ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3 | AR | ||
| TMEM126A | 612988 | Optic atrophy 7 | AR |
| TMEM126B | 615533 | Mitochondrial complex I deficiency, nuclear type 29 | AR |
| TMEM70 | 612418 | Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 | AR |
| TMLHE | 300777 | Autism, susceptibility to, X-linked 6 | XLR |
| TOP3A | 601243 | Microcephaly, growth restriction, and increased sister chromatid exchange 2 | AR |
| ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5 | AR | ||
| TPI1 | 190450 | Hemolytic anemia due to triosephosphate isomerase deficiency | AR |
| TPK1 | 606370 | Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) | AR |
| TREX1 | 606609 | Aicardi-Goutieres syndrome 1, dominant and recessive | AD, AR |
| Chilblain lupus | AD | ||
| Vasculopathy, retinal, with cerebral leukodystrophy | AD | ||
| Systemic lupus erythematosus, susceptibility to | AD | ||
| TRIT1 | 617840 | Combined oxidative phosphorylation deficiency 35 | AR |
| TRMT10C | 615423 | Combined oxidative phosphorylation deficiency 30 | AR |
| TRMT5 | 611023 | Combined oxidative phosphorylation deficiency 26 | AR |
| TRMU | 610230 | Liver failure, transient infantile | AR |
| Deafness, mitochondrial, modifier of | Mitochondrial | ||
| TRNT1 | 612907 | Retinitis pigmentosa and erythrocytic microcytosis | AR |
| Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay | AR | ||
| TSFM | 604723 | Combined oxidative phosphorylation deficiency 3 | AR |
| TTC19 | 613814 | Mitochondrial complex III deficiency, nuclear type 2 | AR |
| TUBB3 | 602661 | Cortical dysplasia, complex, with other brain malformations 1 | AD |
| Fibrosis of extraocular muscles, congenital, 3A | AD | ||
| TUFM | 602389 | Combined oxidative phosphorylation deficiency 4 | AR |
| TWNK | 606075 | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 | AD |
| Perrault syndrome 5 | AR | ||
| Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) | AR | ||
| TYMP | 131222 | Mitochondrial DNA depletion syndrome 1 (MNGIE type) | AR |
| UNG | 191525 | Immunodeficiency with hyper IgM, type 5 | AR |
| UQCC2 | 614461 | Mitochondrial complex III deficiency, nuclear type 7 | AR |
| UQCRB | 191330 | Mitochondrial complex III deficiency, nuclear type 3 | AR |
| UQCRC2 | 191329 | Mitochondrial complex III deficiency, nuclear type 5 | AR |
| UQCRQ | 612080 | Mitochondrial complex III deficiency, nuclear type 4 | AR |
| VARS2 | 612802 | Combined oxidative phosphorylation deficiency 20 | AR |
| WARS2 | 604733 | Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures | AR |
| Parkinsonism-dystonia 3, childhood-onset | AR | ||
| WDR45 | - | Neurodegeneration with brain iron accumulation 5 | XLD |
| WDR81 | 614218 | Hydrocephalus, congenital, 3, with brain anomalies | AR |
| Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 | AR | ||
| WFS1 | 606201 | ?Cataract 41 | AD |
| Wolfram-like syndrome, autosomal dominant | AD | ||
| Wolfram syndrome 1 | AR | ||
| Diabetes mellitus, noninsulin-dependent, association with | AD | ||
| Deafness, autosomal dominant 6/14/38 | AD | ||
| XPNPEP3 | 613553 | Nephronophthisis-like nephropathy 1 | AR |
| YARS2 | 610957 | Myopathy, lactic acidosis, and sideroblastic anemia 2 | AR |
Common syndromes and disorders covered
- Chronic progressive external ophthalmoplegia
- Kearns-Sayre syndrome
- Leigh’s syndrome and maternally inherited Leigh’s syndrome
- Mitochondrial disorders
- Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes
- Myoclonus epilepsy with ragged red fibers
- Myogastrointestinal encephalomyopathy
- NARP
- Neonatal mitochondrial hepatopathies
- Pearson syndrome
CentoMito® Genome
CentoMito® Genome includes mitochondrial genes. Nuclear mitochondrial genes are not included.
| No. of genes: | 37 |
|---|---|
| TAT: | 25 business days |
| Coverage: | ≥97.00% ≥200x |
| Details: |
NGS including CNV analysis
|
| Gene | OMIM (Gene) | Associated diseases (OMIM) | Inheritance |
|---|
Common syndromes and disorders covered
- Chronic progressive external ophthalmoplegia
- Kearns-Sayre syndrome
- Leber hereditary optic neuropathy
- Leigh-like syndrome
- Leigh syndrome
- Mitochondrial disorders
- NARP
Diabetes and obesity panel
Our diabetes and obesity panel is recommended for patients with abnormalities in glucose metabolism, such as hyperinsulinemic hypoglicemia, diabetes neonatal, MODY, diabetes in adults, and familial hypercholesterolemia as well as for patients displaying insulin resistance, from mild to the severe spectrum (Donohue syndrome), and for patients with familial hyperinsulinism. Prader-Willi syndrome can be detected with our diabetes and obesity panel, however, other disorders caused by imprinting errors or uniparental disomy such as 6q24-related transient neonatal diabetes mellitus and Beckwith-Wiedemann syndrome are not included in this panel. Includes MLPA for genomic region 15q11.
| No. of genes: | 265 |
|---|---|
| TAT: | 25 business days |
| Coverage: | ≥99.00% ≥20x |
| Details: |
NGS including CNV analysis
|
| Gene | OMIM (Gene) | Associated diseases (OMIM) | Inheritance |
|---|---|---|---|
| ABCA1 | 600046 | HDL deficiency, familial, 1 | AD |
| Tangier disease | AR | ||
| ABCC8 | 600509 | Diabetes mellitus, transient neonatal 2 | - |
| Diabetes mellitus, noninsulin-dependent | AD | ||
| Hyperinsulinemic hypoglycemia, familial, 1 | AD, AR | ||
| Hypoglycemia of infancy, leucine-sensitive | AD | ||
| Diabetes mellitus, permanent neonatal 3, with or without neurologic features | AD, AR | ||
| ABCG5 | 605459 | Sitosterolemia 2 | AR |
| ABCG8 | 605460 | Gallbladder disease 4 | - |
| Sitosterolemia 1 | AR | ||
| ACAT1 | 607809 | Alpha-methylacetoacetic aciduria | AR |
| ACSF3 | 614245 | Combined malonic and methylmalonic aciduria | - |
| ADCY3 | 600291 | Obesity, susceptibility to, BMIQ19 | AR |
| AFF4 | 604417 | CHOPS syndrome | AD |
| AGL | 610860 | Glycogen storage disease IIIb | AR |
| Glycogen storage disease IIIa | AR | ||
| AGRP | 602311 | Obesity, late-onset | AD, AR, MF |
| Leanness, inherited | AD, AR, MF | ||
| AIP | 605555 | Pituitary adenoma 1, multiple types | AD, SM |
| Pituitary adenoma predisposition | AD, SM | ||
| AIRE | 607358 | Autoimmune polyendocrinopathy syndrome, type I, with or without reversible metaphyseal dysplasia | AD, AR |
| AKT2 | 164731 | Diabetes mellitus, type II | AD |
| Hypoinsulinemic hypoglycemia with hemihypertrophy | AD | ||
| ALDOA | 103850 | Glycogen storage disease XII | AR |
| ALDOB | 612724 | Fructose intolerance, hereditary | AR |
| ALG1 | 605907 | Congenital disorder of glycosylation, type Ik | AR |
| ALG11 | 613666 | Congenital disorder of glycosylation, type Ip | AR |
| ALG12 | 607144 | Congenital disorder of glycosylation, type Ig | AR |
| ALG3 | 608750 | Congenital disorder of glycosylation, type Id | AR |
| ALG6 | 604566 | Congenital disorder of glycosylation, type Ic | AR |
| ALG8 | - | Polycystic liver disease 3 with or without kidney cysts | AD |
| Congenital disorder of glycosylation, type Ih | AR | ||
| ALG9 | 606941 | Congenital disorder of glycosylation, type Il | AR |
| Gillessen-Kaesbach-Nishimura syndrome | AR | ||
| ANGPTL3 | 604774 | Hypobetalipoproteinemia, familial, 2 | AR |
| APOA1 | 107680 | ApoA-I and apoC-III deficiency, combined | AR |
| Hypoalphalipoproteinemia, primary, 2, with or without corneal clouding | AR | ||
| Hypoalphalipoproteinemia, primary, 2, intermediate | AD | ||
| Amyloidosis, 3 or more types | AD | ||
| APOA5 | 606368 | Hyperchylomicronemia, late-onset | AD |
| Hypertriglyceridemia, susceptibility to | AD | ||
| APOB | 107730 | Hypobetalipoproteinemia | AR |
| Hypercholesterolemia, familial, 2 | AD | ||
| APOC2 | - | Hyperlipoproteinemia, type Ib | AR |
| APOC3 | 107720 | Apolipoprotein C-III deficiency | - |
| APOE | 107741 | Sea-blue histiocyte disease | AR |
| Lipoprotein glomerulopathy | - | ||
| ?Alzheimer disease, protection against, due to APOE3-Christchurch | AD | ||
| Hyperlipoproteinemia, type III | - | ||
| Coronary artery disease, severe, susceptibility to | - | ||
| ?Macular degeneration, age-related | AD | ||
| Alzheimer disease 2 | AD | ||
| APPL1 | 604299 | Maturity-onset diabetes of the young, type 14 | AD |
| AQP2 | 107777 | Diabetes insipidus, nephrogenic | AD, AR |
| ARL13B | 608922 | Joubert syndrome 8 | AR |
| ARL6 | 608845 | Retinitis pigmentosa 55 | AR |
| Bardet-Biedl syndrome 1, modifier of | AR, DR | ||
| Bardet-Biedl syndrome 3 | AR | ||
| ARMC5 | 615549 | ACTH-independent macronodular adrenal hyperplasia 2 | AD, SM |
| ATP6V0A2 | 611716 | Cutis laxa, autosomal recessive, type IIA | AR |
| Wrinkly skin syndrome | AR | ||
| AVP | 192340 | Diabetes insipidus, neurohypophyseal | AD |
| AVPR2 | - | Nephrogenic syndrome of inappropriate antidiuresis | XLR |
| Diabetes insipidus, nephrogenic | XLR | ||
| B4GALT1 | 137060 | Congenital disorder of glycosylation, type IId | AR |
| BBS1 | 209901 | Bardet-Biedl syndrome 1 | AR, DR |
| BBS10 | 610148 | Bardet-Biedl syndrome 10 | AR |
| BBS12 | 610683 | Bardet-Biedl syndrome 12 | AR |
| BBS2 | 606151 | Bardet-Biedl syndrome 2 | AR |
| Retinitis pigmentosa 74 | AR | ||
| BBS4 | 600374 | Bardet-Biedl syndrome 4 | AR |
| BBS5 | 603650 | Bardet-Biedl syndrome 5 | AR |
| BBS7 | 607590 | Bardet-Biedl syndrome 7 | AR |
| BBS9 | 607968 | Bardet-Biedl syndrome 9 | AR |
| BLK | 191305 | Maturity-onset diabetes of the young, type 11 | AD |
| CANT1 | 613165 | Desbuquois dysplasia 1 | AR |
| Epiphyseal dysplasia, multiple, 7 | AR | ||
| CC2D2A | 612013 | Meckel syndrome 6 | AR |
| Retinitis pigmentosa 93 | AR | ||
| Joubert syndrome 9 | AR | ||
| COACH syndrome 2 | AR | ||
| CCDC28B | 610162 | Bardet-Biedl syndrome 1, modifier of | AR, DR |
| CEL | 114840 | Maturity-onset diabetes of the young, type VIII | AD |
| CEP164 | 614848 | Nephronophthisis 15 | AR |
| CEP19 | 615586 | Morbid obesity and spermatogenic failure | AR |
| CEP290 | 610142 | Leber congenital amaurosis 10 | - |
| Meckel syndrome 4 | AR | ||
| ?Bardet-Biedl syndrome 14 | AR | ||
| Senior-Loken syndrome 6 | AR | ||
| Joubert syndrome 5 | AR | ||
| CETP | 118470 | Hyperalphalipoproteinemia | AD |
| [High density lipoprotein cholesterol level QTL 10] | AD | ||
| CFAP418 | 614477 | Retinitis pigmentosa 64 | AR |
| Cone-rod dystrophy 16 | AR | ||
| Bardet-Biedl syndrome 21 | AR | ||
| CHD2 | 602119 | Epileptic encephalopathy, childhood-onset | AD |
| CISD2 | 611507 | Wolfram syndrome 2 | AR |
| CNOT1 | 604917 | Holoprosencephaly 12, with or without pancreatic agenesis | AD |
| Vissers-Bodmer syndrome | AD | ||
| COG1 | 606973 | Congenital disorder of glycosylation, type IIg | AR |
| COG4 | 606976 | Congenital disorder of glycosylation, type IIj | AR |
| Saul-Wilson syndrome | AD | ||
| COG5 | 606821 | Congenital disorder of glycosylation, type IIi | AR |
| COG6 | 606977 | Shaheen syndrome | AR |
| Congenital disorder of glycosylation, type IIl | AR | ||
| COG7 | 606978 | Congenital disorder of glycosylation, type IIe | AR |
| COG8 | 606979 | Congenital disorder of glycosylation, type IIh | - |
| CP | 117700 | Cerebellar ataxia | AR |
| Hemosiderosis, systemic, due to aceruloplasminemia | AR | ||
| [Hypoceruloplasminemia, hereditary] | AR | ||
| CPE | 114855 | Intellectual developmental disorder and hypogonadotropic hypogonadism | AR |
| CREBBP | 600140 | Menke-Hennekam syndrome 1 | AD |
| Rubinstein-Taybi syndrome 1 | AD | ||
| CUL4B | 300304 | Mental retardation, X-linked, syndromic 15 (Cabezas type) | XLR |
| CYP27A1 | 606530 | Cerebrotendinous xanthomatosis | AR |
| DCAF17 | 612515 | Woodhouse-Sakati syndrome | AR |
| DNAJC3 | 601184 | ?Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus | AR |
| DOLK | 610746 | Congenital disorder of glycosylation, type Im | AR |
| DPM1 | 603503 | Congenital disorder of glycosylation, type Ie | AR |
| DPM2 | 603564 | Congenital disorder of glycosylation, type Iu | AR |
| DPM3 | 605951 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 | AR |
| ?Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 | AR | ||
| DYRK1B | 604556 | Abdominal obesity-metabolic syndrome 3 | AD |
| EHMT1 | 607001 | Kleefstra syndrome 1 | AD |
| EIF2AK3 | 604032 | Wolcott-Rallison syndrome | AR |
| EIF2B1 | 606686 | Leukoencephalopathy with vanishing white matter | AR |
| EIF2S3 | 300161 | MEHMO syndrome | XLR |
| ENO3 | 131370 | ?Glycogen storage disease XIII | AR |
| ENPP1 | 173335 | Arterial calcification, generalized, of infancy, 1 | AR |
| Obesity, susceptibility to | AD, AR, MF | ||
| Hypophosphatemic rickets, autosomal recessive, 2 | AR | ||
| Cole disease | AD | ||
| Diabetes mellitus, non-insulin-dependent, susceptibility to | AD | ||
| EPM2A | 607566 | Epilepsy, progressive myoclonic 2A (Lafora) | AR |
| FBP1 | 611570 | Fructose-1, 6-bisphosphatase deficiency | AR |
| FOXP3 | 300292 | Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked | XLR |
| G6PC1 | 613742 | Glycogen storage disease Ia | AR |
| GAA | 606800 | Glycogen storage disease II | AR |
| GATA6 | 601656 | Persistent truncus arteriosus | - |
| Atrioventricular septal defect 5 | AD | ||
| Tetralogy of Fallot | AD | ||
| Atrial septal defect 9 | AD | ||
| Pancreatic agenesis and congenital heart defects | AD | ||
| GBE1 | 607839 | Glycogen storage disease IV | AR |
| Polyglucosan body disease, adult form | AR | ||
| GCK | 138079 | Diabetes mellitus, permanent neonatal 1 | AR |
| Diabetes mellitus, noninsulin-dependent, late onset | AD | ||
| Hyperinsulinemic hypoglycemia, familial, 3 | AD | ||
| MODY, type II | AD | ||
| GCKR | 600842 | [Fasting plasma glucose level QTL 5] | - |
| GH1 | 139250 | Growth hormone deficiency, isolated, type IB | - |
| Growth hormone deficiency, isolated, type IA | AR | ||
| Kowarski syndrome | AR | ||
| Growth hormone deficiency, isolated, type II | AD | ||
| GHR | 600946 | Hypercholesterolemia, familial, modifier of | AD, AR |
| Laron dwarfism | AR | ||
| Growth hormone insensitivity, partial | AD | ||
| Increased responsiveness to growth hormone | AD | ||
| GHRHR | 139191 | Growth hormone deficiency, isolated, type IV | AR |
| GHRL | 605353 | Obesity, susceptibility to | AD, AR, MF |
| GLI3 | 165240 | Pallister-Hall syndrome | AD |
| Polydactyly, preaxial, type IV | AD | ||
| Polydactyly, postaxial, types A1 and B | AD | ||
| Greig cephalopolysyndactyly syndrome | AD | ||
| GLIS3 | 610192 | Diabetes mellitus, neonatal, with congenital hypothyroidism | AR |
| GLUD1 | 138130 | Hyperinsulinism-hyperammonemia syndrome | AD |
| GMPPA | 615495 | Alacrima, achalasia, and mental retardation syndrome | AR |
| GNAS | 139320 | Pseudohypoparathyroidism Ic | AD |
| Osseous heteroplasia, progressive | AD | ||
| Pseudopseudohypoparathyroidism | AD | ||
| Pseudohypoparathyroidism Ia | AD | ||
| Pseudohypoparathyroidism Ib | AD | ||
| Pituitary adenoma 3, multiple types, somatic | - | ||
| ACTH-independent macronodular adrenal hyperplasia | SM | ||
| McCune-Albright syndrome, somatic, mosaic | - | ||
| GNE | 603824 | Nonaka myopathy | AR |
| Sialuria | AD | ||
| GPC3 | 300037 | Simpson-Golabi-Behmel syndrome, type 1 | XLR |
| Wilms tumor, somatic | - | ||
| GPD1 | 138420 | Hypertriglyceridemia, transient infantile | AR |
| GPIHBP1 | 612757 | Hyperlipoproteinemia, type 1D | AR |
| GYS1 | 138570 | Glycogen storage disease 0, muscle | AR |
| GYS2 | 138571 | Glycogen storage disease 0, liver | AR |
| H6PD | 138090 | Cortisone reductase deficiency 1 | AR |
| HADH | 601609 | 3-hydroxyacyl-CoA dehydrogenase deficiency | AR |
| Hyperinsulinemic hypoglycemia, familial, 4 | AR | ||
| HEXA | 606869 | Tay-Sachs disease | AR |
| [Hex A pseudodeficiency] | AR | ||
| GM2-gangliosidosis, several forms | AR | ||
| HMGCL | 613898 | HMG-CoA lyase deficiency | AR |
| HMGCS2 | 600234 | HMG-CoA synthase-2 deficiency | AR |
| HNF1A | 142410 | Diabetes mellitus, insulin-dependent | AR |
| Diabetes mellitus, insulin-dependent, 20 | - | ||
| MODY, type III | AD | ||
| Diabetes mellitus, noninsulin-dependent, 2 | AD | ||
| Hepatic adenoma, somatic | - | ||
| Renal cell carcinoma | - | ||
| HNF1B | 189907 | Renal cysts and diabetes syndrome | AD |
| Diabetes mellitus, noninsulin-dependent | AD | ||
| Renal cell carcinoma | - | ||
| HNF4A | 600281 | Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young | AD |
| Diabetes mellitus, noninsulin-dependent | AD | ||
| MODY, type I | AD | ||
| HSD11B1 | 600713 | Cortisone reductase deficiency 2 | AD |
| IER3IP1 | 609382 | Microcephaly, epilepsy, and diabetes syndrome | AR |
| IFT172 | 607386 | Retinitis pigmentosa 71 | AR |
| Bardet-Biedl syndrome 20 | AR | ||
| Short-rib thoracic dysplasia 10 with or without polydactyly | AR | ||
| IFT27 | 615870 | ?Bardet-Biedl syndrome 19 | AR |
| IGF1R | 147370 | Insulin-like growth factor I, resistance to | AD, AR |
| INPP5E | 613037 | Mental retardation, truncal obesity, retinal dystrophy, and micropenis | AR |
| Joubert syndrome 1 | AR | ||
| INS | 176730 | Diabetes mellitus, insulin-dependent, 2 | AD |
| Maturity-onset diabetes of the young, type 10 | AD | ||
| Hyperproinsulinemia | AD | ||
| Diabetes mellitus, permanent neonatal 4 | AD, AR | ||
| INSR | 147670 | Diabetes mellitus, insulin-resistant, with acanthosis nigricans | - |
| Rabson-Mendenhall syndrome | AR | ||
| Hyperinsulinemic hypoglycemia, familial, 5 | AD | ||
| Leprechaunism | AR | ||
| ITCH | 606409 | Autoimmune disease, multisystem, with facial dysmorphism | AR |
| KCNJ11 | 600937 | Maturity-onset diabetes of the young, type 13 | AD |
| Diabetes mellitus, transient neonatal 3 | AD | ||
| Hyperinsulinemic hypoglycemia, familial, 2 | AD, AR | ||
| Diabetes, permanent neonatal 2, with or without neurologic features | AD | ||
| Diabetes mellitus, type 2, susceptibility to | AD | ||
| KIDINS220 | 615759 | Ventriculomegaly and arthrogryposis | AR |
| Spastic paraplegia, intellectual disability, nystagmus, and obesity | AD | ||
| KIF7 | 611254 | Joubert syndrome 12 | AR |
| ?Hydrolethalus syndrome 2 | AR | ||
| ?Al-Gazali-Bakalinova syndrome | AR | ||
| Acrocallosal syndrome | AR | ||
| KLF11 | 603301 | Maturity-onset diabetes of the young, type VII | - |
| KMT2C | 606833 | Kleefstra syndrome 2 | AD |
| LAMP2 | 309060 | Danon disease | XLD |
| LARGE1 | 603590 | Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 | AR |
| Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 | AR | ||
| LAS1L | 300964 | Wilson-Turner syndrome | XLR |
| LDHA | 150000 | Glycogen storage disease XI | AR |
| LDLR | 606945 | LDL cholesterol level QTL2 | AD, AR |
| Hypercholesterolemia, familial, 1 | AD, AR | ||
| LDLRAP1 | 605747 | Hypercholesterolemia, familial, 4 | AR |
| LEP | 164160 | Obesity, morbid, due to leptin deficiency | AR |
| LEPR | 601007 | Obesity, morbid, due to leptin receptor deficiency | AR |
| LIPA | 613497 | Wolman disease | AR |
| Cholesteryl ester storage disease | AR | ||
| LIPC | 151670 | [High density lipoprotein cholesterol level QTL 12] | - |
| Hepatic lipase deficiency | AR | ||
| Diabetes mellitus, noninsulin-dependent | AD | ||
| LIPE | 151750 | Lipodystrophy, familial partial, type 6 | AR |
| LMF1 | 611761 | Lipase deficiency, combined | AR |
| LMNA | 150330 | Restrictive dermopathy 2 | - |
| Malouf syndrome | AD | ||
| Emery-Dreifuss muscular dystrophy 3, autosomal recessive | AR | ||
| Emery-Dreifuss muscular dystrophy 2, autosomal dominant | AD | ||
| Hutchinson-Gilford progeria | AD | ||
| Muscular dystrophy, congenital | AD | ||
| Restrictive dermopathy, lethal | AR | ||
| Lipodystrophy, familial partial, type 2 | AD | ||
| Charcot-Marie-Tooth disease, type 2B1 | AR | ||
| Mandibuloacral dysplasia | AR | ||
| Cardiomyopathy, dilated, 1A | AD | ||
| Heart-hand syndrome, Slovenian type | AD | ||
| LPL | 609708 | [High density lipoprotein cholesterol level QTL 11] | AR |
| Combined hyperlipidemia, familial | AD | ||
| Lipoprotein lipase deficiency | AR | ||
| LZTFL1 | 606568 | Bardet-Biedl syndrome 17 | AR |
| MAGEL2 | 605283 | Schaaf-Yang syndrome | AD |
| MAN1B1 | 604346 | Rafiq syndrome | AR |
| MC3R | 155540 | Obesity, severe, susceptibility to, BMIQ9 | - |
| MC4R | 155541 | Obesity (BMIQ20) | AD, AR |
| Obesity, resistance to (BMIQ20) | AD, AR | ||
| MEGF8 | 604267 | Carpenter syndrome 2 | AR |
| MGAT2 | 602616 | Congenital disorder of glycosylation, type IIa | AR |
| MKKS | 604896 | McKusick-Kaufman syndrome | AR |
| Bardet-Biedl syndrome 6 | AR | ||
| MKRN3 | 603856 | Precocious puberty, central, 2 | AD |
| MKS1 | 609883 | Bardet-Biedl syndrome 13 | AR |
| Joubert syndrome 28 | AR | ||
| Meckel syndrome 1 | AR | ||
| MOGS | 601336 | Congenital disorder of glycosylation, type IIb | AR |
| MPDU1 | 604041 | Congenital disorder of glycosylation, type If | AR |
| MPI | 154550 | Congenital disorder of glycosylation, type Ib | AR |
| MPV17 | 137960 | Charcot-Marie-Tooth disease, axonal, type 2EE | AR |
| Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) | AR | ||
| MRAP2 | 615410 | ?Obesity, susceptibility to, BMIQ18 | AD |
| MTNR1B | 600804 | Diabetes mellitus, type 2, susceptibility to | AD |
| MTTP | 157147 | Metabolic syndrome, protection against | AD |
| Abetalipoproteinemia | AR | ||
| MYO5A | 160777 | Griscelli syndrome, type 1 | AR |
| MYO7A | 276903 | Deafness, autosomal dominant 11 | AD |
| Usher syndrome, type 1B | AR | ||
| Deafness, autosomal recessive 2 | AR | ||
| MYT1L | 613084 | Mental retardation, autosomal dominant 39 | AD |
| NDN | 602117 | Prader-Willi syndrome | AD |
| NEUROD1 | 601724 | Type 2 diabetes mellitus, susceptibility to | AD |
| Maturity-onset diabetes of the young 6 | - | ||
| NEUROG3 | 604882 | Diarrhea 4, malabsorptive, congenital | AR |
| NGLY1 | 610661 | Congenital disorder of deglycosylation | AR |
| NHLRC1 | - | Epilepsy, progressive myoclonic 2B (Lafora) | AR |
| NPHP1 | 607100 | Joubert syndrome 4 | AR |
| Nephronophthisis 1, juvenile | AR | ||
| Senior-Loken syndrome-1 | AR | ||
| NPHP3 | 608002 | Nephronophthisis 3 | AR |
| Meckel syndrome 7 | AR | ||
| Renal-hepatic-pancreatic dysplasia 1 | AR | ||
| NR0B2 | 604630 | Obesity, mild, early-onset | AD, AR, MF |
| NSD1 | 606681 | Sotos syndrome 1 | AD |
| NTRK2 | 600456 | Developmental and epileptic encephalopathy 58 | AD |
| Obesity, hyperphagia, and developmental delay | AD | ||
| OFD1 | 300170 | Joubert syndrome 10 | XLR |
| Simpson-Golabi-Behmel syndrome, type 2 | XLR | ||
| ?Retinitis pigmentosa 23 | XLR | ||
| Orofaciodigital syndrome I | XLD | ||
| OXCT1 | - | Succinyl CoA:3-oxoacid CoA transferase deficiency | AR |
| PAX4 | 167413 | Maturity-onset diabetes of the young, type IX | - |
| Diabetes mellitus, ketosis-prone, susceptibility to | AD, AR | ||
| Diabetes mellitus, type 2 | AD | ||
| PAX6 | 607108 | ?Coloboma, ocular | AD |
| Aniridia | AD | ||
| ?Morning glory disc anomaly | AD | ||
| Keratitis | AD | ||
| Optic nerve hypoplasia | AD | ||
| ?Coloboma of optic nerve | AD | ||
| Anterior segment dysgenesis 5, multiple subtypes | AD | ||
| Cataract with late-onset corneal dystrophy | AD | ||
| Foveal hypoplasia 1 | AD | ||
| PC | 608786 | Pyruvate carboxylase deficiency | AR |
| PCBD1 | 126090 | Hyperphenylalaninemia, BH4-deficient, D | AR |
| PCK1 | 614168 | ?Phosphoenolpyruvate carboxykinase deficiency, cytosolic | AR |
| PCNT | 605925 | Microcephalic osteodysplastic primordial dwarfism, type II | AR |
| PCSK1 | 162150 | Obesity with impaired prohormone processing | AR |
| Obesity, susceptibility to, BMIQ12 | - | ||
| PCSK9 | 607786 | Hypercholesterolemia, familial, 3 | AD |
| Low density lipoprotein cholesterol level QTL 1 | AD | ||
| PDE11A | 604961 | Pigmented nodular adrenocortical disease, primary, 2 | AD |
| PDE4D | 600129 | Acrodysostosis 2, with or without hormone resistance | AD |
| PDX1 | 600733 | Pancreatic agenesis 1 | AR |
| MODY, type IV | - | ||
| Diabetes mellitus, type II, susceptibility to | AD | ||
| PFKM | 610681 | Glycogen storage disease VII | AR |
| PGAM2 | 612931 | Glycogen storage disease X | AR |
| PGK1 | 311800 | Phosphoglycerate kinase 1 deficiency | XLR |
| PGM1 | 171900 | Congenital disorder of glycosylation, type It | AR |
| PHF6 | 300414 | Borjeson-Forssman-Lehmann syndrome | XLR |
| PHIP | 612870 | Chung-Jansen syndrome | AD |
| PHKA1 | 311870 | Muscle glycogenosis | XLR |
| PHKA2 | 300798 | Glycogen storage disease, type IXa1 | XLR |
| Glycogen storage disease, type IXa2 | XLR | ||
| PHKB | 172490 | Phosphorylase kinase deficiency of liver and muscle, autosomal recessive | AR |
| PHKG2 | 172471 | Glycogen storage disease IXc | AR |
| PIK3R1 | 171833 | ?Agammaglobulinemia 7, autosomal recessive | AR |
| Immunodeficiency 36 | AD | ||
| SHORT syndrome | AD | ||
| PMM2 | 601785 | Congenital disorder of glycosylation, type Ia | AR |
| PNPLA6 | 603197 | Spastic paraplegia 39, autosomal recessive | AR |
| Boucher-Neuhauser syndrome | AR | ||
| Oliver-McFarlane syndrome | AR | ||
| ?Laurence-Moon syndrome | AR | ||
| POLD1 | 174761 | Colorectal cancer, susceptibility to, 10 | AD |
| Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome | AD | ||
| POMC | 176830 | Obesity, adrenal insufficiency, and red hair due to POMC deficiency | AR |
| Obesity, early-onset, susceptibility to | AD, AR, MF | ||
| PPARG | - | Carotid intimal medial thickness 1 | - |
| Obesity, severe | AD, AR, MF | ||
| Lipodystrophy, familial partial, type 3 | AD | ||
| Diabetes, type 2 | AD | ||
| Insulin resistance, severe, digenic | AD | ||
| PPP1R15B | 613257 | Microcephaly, short stature, and impaired glucose metabolism 2 | AR |
| PRKAG2 | 602743 | Glycogen storage disease of heart, lethal congenital | AD |
| Cardiomyopathy, hypertrophic 6 | AD | ||
| Wolff-Parkinson-White syndrome | AD | ||
| PRKAR1A | 188830 | Myxoma, intracardiac | AD |
| Pigmented nodular adrenocortical disease, primary, 1 | AD | ||
| Carney complex, type 1 | AD | ||
| Acrodysostosis 1, with or without hormone resistance | AD | ||
| PRMT7 | 610087 | Short stature, brachydactyly, intellectual developmental disability, and seizures | AR |
| PROM1 | 604365 | Cone-rod dystrophy 12 | AD, AR |
| Macular dystrophy, retinal, 2 | AD | ||
| Retinitis pigmentosa 41 | AR | ||
| Stargardt disease 4 | AD | ||
| PRPH2 | 179605 | Retinitis pigmentosa 7 and digenic form | AD, AR, DD |
| Retinitis punctata albescens | AD, AR | ||
| Choroidal dystrophy, central areolar 2 | AD | ||
| Macular dystrophy, patterned, 1 | AD | ||
| Macular dystrophy, vitelliform, 3 | AD | ||
| Leber congenital amaurosis 18 | AD, AR, DD | ||
| PTEN | 601728 | Cowden syndrome 1 | AD |
| Lhermitte-Duclos syndrome | AD | ||
| Macrocephaly/autism syndrome | AD | ||
| Glioma susceptibility 2 | - | ||
| Meningioma | AD | ||
| Prostate cancer, somatic | - | ||
| PTF1A | 607194 | Pancreatic and cerebellar agenesis | AR |
| Pancreatic agenesis 2 | AR | ||
| PYGL | 613741 | Glycogen storage disease VI | AR |
| PYGM | 608455 | McArdle disease | AR |
| RAB23 | 606144 | Carpenter syndrome | AR |
| RAI1 | 607642 | Smith-Magenis syndrome | AD, IC |
| RBCK1 | 610924 | Polyglucosan body myopathy 1 with or without immunodeficiency | AR |
| RDH5 | 601617 | Fundus albipunctatus | AD, AR |
| RFT1 | 611908 | Congenital disorder of glycosylation, type In | AR |
| RFX6 | 612659 | Mitchell-Riley syndrome | AR |
| RHO | 180380 | Retinitis punctata albescens | AD, AR |
| Retinitis pigmentosa 4, autosomal dominant or recessive | AD, AR | ||
| Night blindness, congenital stationary, autosomal dominant 1 | - | ||
| RLBP1 | 180090 | Newfoundland rod-cone dystrophy | - |
| Fundus albipunctatus | AD, AR | ||
| Retinitis punctata albescens | AD, AR | ||
| Bothnia retinal dystrophy | AR | ||
| RPGRIP1L | 610937 | Joubert syndrome 7 | AR |
| ?COACH syndrome 3 | AR | ||
| Meckel syndrome 5 | AR | ||
| RPS6KA3 | 300075 | Coffin-Lowry syndrome | XLD |
| Mental retardation, X-linked 19 | XLD | ||
| SDCCAG8 | 613524 | Bardet-Biedl syndrome 16 | AR |
| Senior-Loken syndrome 7 | AR | ||
| SETD2 | 612778 | Luscan-Lumish syndrome | AD |
| Rabin-Pappas syndrome | - | ||
| Intellectual developmental disorder, autosomal dominant 70 | - | ||
| SLC16A1 | 600682 | Hyperinsulinemic hypoglycemia, familial, 7 | AD |
| Erythrocyte lactate transporter defect | AD | ||
| Monocarboxylate transporter 1 deficiency | AD, AR | ||
| SLC19A2 | 603941 | Thiamine-responsive megaloblastic anemia syndrome | AR |
| SLC29A3 | 612373 | Histiocytosis-lymphadenopathy plus syndrome | AR |
| SLC2A2 | 138160 | Fanconi-Bickel syndrome | AR |
| Diabetes mellitus, noninsulin-dependent | AD | ||
| SLC35A1 | 605634 | Congenital disorder of glycosylation, type IIf | AR |
| SLC35A2 | 314375 | Congenital disorder of glycosylation, type IIm | Somatic mosaicism, XLD |
| SLC35C1 | 605881 | Congenital disorder of glycosylation, type IIc | AR |
| SNRPN | 182279 | Prader-Willi syndrome | AD |
| SPG11 | 610844 | Spastic paraplegia 11, autosomal recessive | AR |
| Amyotrophic lateral sclerosis 5, juvenile | AR | ||
| Charcot-Marie-Tooth disease, axonal, type 2X | AR | ||
| SRD5A3 | 611715 | Congenital disorder of glycosylation, type Iq | AR |
| Kahrizi syndrome | AR | ||
| SSR4 | 300090 | Congenital disorder of glycosylation, type Iy | XLR |
| STAT1 | 600555 | Immunodeficiency 31C, chronic mucocutaneous candidiasis, autosomal dominant | AD |
| Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive | AR | ||
| Immunodeficiency 31A, mycobacteriosis, autosomal dominant | AD | ||
| STAT3 | 102582 | Hyper-IgE recurrent infection syndrome | AD |
| Autoimmune disease, multisystem, infantile-onset, 1 | AD | ||
| TBX3 | 601621 | Ulnar-mammary syndrome | AD |
| THOC2 | 300395 | Mental retardation, X-linked 12/35 | XLR |
| THRA | 190120 | Hypothyroidism, congenital, nongoitrous, 6 | AD |
| TMEM165 | 614726 | Congenital disorder of glycosylation, type IIk | AR |
| TMEM67 | 609884 | COACH syndrome 1 | AR |
| ?RHYNS syndrome | AR | ||
| Meckel syndrome 3 | AR | ||
| Joubert syndrome 6 | AR | ||
| Bardet-Biedl syndrome 14, modifier of | AR | ||
| Nephronophthisis 11 | AR | ||
| TRAF3IP1 | 607380 | Senior-Loken syndrome 9 | AR |
| TRAPPC9 | 611966 | Mental retardation, autosomal recessive 13 | AR |
| TRIM32 | 602290 | Muscular dystrophy, limb-girdle, autosomal recessive 8 | AR |
| ?Bardet-Biedl syndrome 11 | AR | ||
| TRMT10A | 616013 | Microcephaly, short stature, and impaired glucose metabolism 1 | AR |
| TTC21B | 612014 | Short-rib thoracic dysplasia 4 with or without polydactyly | AR |
| Nephronophthisis 12 | AD, AR | ||
| TTC8 | - | Bardet-Biedl syndrome 8 | AR |
| ?Retinitis pigmentosa 51 | AR | ||
| TUSC3 | 601385 | Mental retardation, autosomal recessive 7 | AR |
| UCP2 | 601693 | Obesity, susceptibility to, BMIQ4 | - |
| UCP3 | 602044 | Obesity, severe, and type II diabetes | AD, AR, MF |
| VPS13B | 607817 | Cohen syndrome | AR |
| WFS1 | 606201 | ?Cataract 41 | AD |
| Wolfram-like syndrome, autosomal dominant | AD | ||
| Wolfram syndrome 1 | AR | ||
| Diabetes mellitus, noninsulin-dependent, association with | AD | ||
| Deafness, autosomal dominant 6/14/38 | AD | ||
| XRCC4 | 194363 | Short stature, microcephaly, and endocrine dysfunction | AR |
| XYLT1 | - | Desbuquois dysplasia 2 | AR |
| Pseudoxanthoma elasticum, modifier of severity of | AR | ||
| ZBTB20 | 606025 | Primrose syndrome | AD |
| ZFP57 | 612192 | Diabetes mellitus, transient neonatal 1 | AD |
| ZMPSTE24 | 606480 | Restrictive dermopathy, lethal | AR |
| Mandibuloacral dysplasia with type B lipodystrophy | AR | ||
| ZNF711 | 314990 | Mental retardation, X-linked 97 | XL |
COMMON SYNDROMES AND DISORDERS COVERED
- Bardet-Biedl syndrome
- Congenital glycosylation disease
- Congenital hyperinsulinism
- Congenital hypothyroidism
- Diabetes insipidus
- Growth hormone deficiency
- Familial hypercholesterolemia
- Hypoglycemia
- Maturity onset diabetes of the young
- Neonatal diabetes
- Obesity
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