Dentro de los servicios qGenEx, los paneles de exoma dirigido permiten restringir el estudio a un grupo de genes concreto según especialidad.
qGenEx TM analiza 535 genes asociados a trastornos metabólicos usando secuenciación de exoma completo mediante NGS.
Utiliza el buscador para encontrar el grupo de genes relacionados con la patología que te interesa incluidos en el panel:
Gene | Median coverage | % covered > 10x | % covered > 20x | Associated Phenotype description and OMIM disease ID | |
---|---|---|---|---|---|
AASS | 147.3 | 0.99 | 0.97 | Hyperlysinemia, | 238700 |
AASS | 147.3 | 0.99 | 0.97 | Saccharopinuria, | 268700 |
ABAT | 103 | 1 | 0.99 | GABA-transaminase deficiency, | 613163 |
ABCD1 | 96 | 0.77 | 0.68 | Adrenoleukodystrophy, | 300100 |
ABCD1 | 96 | 0.77 | 0.68 | Adrenomyeloneuropathy, adult, | 300100 |
ABCD4 | 155.2 | 0.99 | 0.98 | Methylmalonic aciduria and homocystinuria, cblJ type, | 614857 |
ABCG5 | 147.9 | 0.99 | 0.98 | Sitosterolemia, | 210250 |
ABCG8 | 166.1 | 0.99 | 0.95 | Sitosterolemia, | 210250 |
ABCG8 | 166.1 | 0.99 | 0.95 | {Gallbladder disease 4}, | 611465 |
ABHD12 | 114.9 | 0.97 | 0.91 | Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract, | 612674 |
ABHD5 | 265.7 | 0.99 | 0.99 | Chanarin-Dorfman syndrome, | 275630 |
ACACA | 155.4 | 0.98 | 0.97 | Acetyl-CoA carboxylase deficiency, | 613933 |
ACAD8 | 149.3 | 0.99 | 0.99 | Isobutyryl-CoA dehydrogenase deficiency, | 611283 |
ACAD9 | 154 | 0.99 | 0.96 | Mitochondrial complex I deficiency due to ACAD9 deficiency, | 611126 |
ACADM | 112.6 | 0.98 | 0.94 | Acyl-CoA dehydrogenase, medium chain, deficiency of, | 201450 |
ACADS | 139.9 | 0.99 | 0.97 | Acyl-CoA dehydrogenase, short-chain, deficiency of, | 201470 |
ACADSB | 138.4 | 0.99 | 0.94 | 2-methylbutyrylglycinuria, | 610006 |
ACADVL | 128.3 | 0.99 | 0.97 | VLCAD deficiency, | 201475 |
ACAT1 | 138.1 | 0.98 | 0.93 | Alpha-methylacetoacetic aciduria, | 203750 |
ACAT2 | 188.5 | 1 | 1 | ?ACAT2 deficiency, | 614055 |
ACO2 | 138.6 | 0.96 | 0.92 | Infantile cerebellar-retinal degeneration, | 614559 |
ACO2 | 138.6 | 0.96 | 0.92 | ?Optic atrophy 9 | 616289 |
ACOX1 | 186.3 | 1 | 1 | Peroxisomal acyl-CoA oxidase deficiency, | 264470 |
ACSF3 | 146.5 | 1 | 0.99 | Combined malonic and methylmalonic aciduria, | 614265 |
ACSL4 | 127.6 | 0.96 | 0.91 | Mental retardation, X-linked 63 | 300387 |
ACY1 | 155.9 | 0.99 | 0.98 | Aminoacylase 1 deficiency, | 609924 |
ADA | 118 | 0.99 | 0.97 | Adenosine deaminase deficiency, partial, | 102700 |
ADA | 118 | 0.99 | 0.97 | Severe combined immunodeficiency due to ADA deficiency, | 102700 |
ADCY5 | 144.8 | 0.93 | 0.91 | Dyskinesia, familial, with facial myokymia, | 606703 |
ADK | 106.1 | 0.98 | 0.93 | Hypermethioninemia due to adenosine kinase deficiency, | 614300 |
ADSL | 205.9 | 1 | 0.99 | Adenylosuccinase deficiency, | 103050 |
AGA | 154.1 | 1 | 1 | Aspartylglucosaminuria, | 208400 |
AGK | 137.6 | 0.99 | 0.97 | Cataract 38 autosomal recessive, | 614691 |
AGK | 137.6 | 0.99 | 0.97 | Sengers syndrome, | 212350 |
AGL | 164.6 | 0.99 | 0.97 | Glycogen storage disease IIIa, | 232400 |
AGL | 164.6 | 0.99 | 0.97 | Glycogen storage disease IIIb, | 232400 |
AGPAT2 | 120.1 | 0.98 | 0.92 | Lipodystrophy, congenital generalized, type 1 | 608594 |
AGPS | 57.3 | 0.93 | 0.82 | Rhizomelic chondrodysplasia punctata, type 3 | 600121 |
AGXT | 149.5 | 1 | 1 | Hyperoxaluria, primary, type 1 | 259900 |
AHCY | 138.6 | 1 | 0.99 | Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, | 613752 |
AK1 | 130.7 | 0.99 | 0.99 | Hemolytic anemia due to adenylate kinase deficiency, | 612631 |
AK2 | 117 | 0.98 | 0.94 | Reticular dysgenesis, | 267500 |
AKR1D1 | 113.1 | 0.97 | 0.93 | Bile acid synthesis defect, congenital, 2 | 235555 |
ALAD | 115 | 1 | 0.99 | Porphyria, acute hepatic, | 612740 |
ALAD | 115 | 1 | 0.99 | {Lead poisoning, susceptibility to}, | 612740 |
ALAS2 | 107.4 | 0.99 | 0.96 | Anemia, sideroblastic, 1 | 300751 |
ALAS2 | 107.4 | 0.99 | 0.96 | Protoporphyria, erythropoietic, X-linked, | 300752 |
ALDH18A1 | 143 | 1 | 0.99 | Cutis laxa, autosomal dominant 3 | 616603 |
ALDH18A1 | 143 | 1 | 0.99 | Cutis laxa, autosomal recessive, type IIIA, | 219150 |
ALDH18A1 | 143 | 1 | 0.99 | Spastic paraplegia 9A, autosomal dominant, | 601162 |
ALDH18A1 | 143 | 1 | 0.99 | Spastic paraplegia 9B, autosomal recessive, | 616586 |
ALDH1A3 | 124.9 | 0.93 | 0.89 | Microphthalmia, isolated 8 | 615113 |
ALDH2 | 133.5 | 0.99 | 0.99 | Alcohol sensitivity, acute, | 610251 |
ALDH2 | 133.5 | 0.99 | 0.99 | {Esophageal cancer, alcohol-related, susceptibility to} | 610251 |
ALDH2 | 133.5 | 0.99 | 0.99 | {Hangover, susceptibility to}, | 610251 |
ALDH2 | 133.5 | 0.99 | 0.99 | {Sublingual nitroglycerin, susceptibility to poor response to} | 610251 |
ALDH3A2 | 157.4 | 1 | 0.99 | Sjogren-Larsson syndrome, | 270200 |
ALDH4A1 | 130.3 | 0.99 | 0.98 | Hyperprolinemia, type II, | 239510 |
ALDH5A1 | 92.3 | 0.9 | 0.82 | Succinic semialdehyde dehydrogenase deficiency, | 271980 |
ALDH6A1 | 149.3 | 1 | 0.99 | Methylmalonate semialdehyde dehydrogenase deficiency, | 614105 |
ALDH7A1 | 83.1 | 0.97 | 0.89 | Epilepsy, pyridoxine-dependent, | 266100 |
ALDOA | 191.8 | 0.99 | 0.96 | Glycogen storage disease XII, | 611881 |
ALDOB | 174.3 | 0.99 | 0.98 | Fructose intolerance, | 229600 |
ALG1 | 60.3 | 0.53 | 0.49 | Congenital disorder of glycosylation, type Ik, | 608540 |
ALG10 | 282.1 | 1 | 1 | {Long QT syndrome, acquired, reduced susceptibility to}, | 613688 |
ALG11 | 182.7 | 1 | 0.99 | Congenital disorder of glycosylation, type Ip, | 613661 |
ALG12 | 167.3 | 1 | 1 | Congenital disorder of glycosylation, type Ig, | 607143 |
ALG13 | 107.4 | 0.98 | 0.94 | Epileptic encephalopathy, early infantile, 36 | 300884 |
ALG2 | 119.8 | 1 | 0.99 | Myasthenic syndrome, congenital, 14 with tubular aggregates, | 616228 |
ALG2 | 119.8 | 1 | 0.99 | ?Congenital disorder of glycosylation, type Ii, | 607906 |
ALG3 | 125.8 | 1 | 0.99 | Congenital disorder of glycosylation, type Id, | 601110 |
ALG6 | 104.1 | 0.95 | 0.92 | Congenital disorder of glycosylation, type Ic, | 603147 |
ALG8 | 153.6 | 0.96 | 0.93 | Congenital disorder of glycosylation, type Ih, | 608104 |
ALG9 | 136.2 | 0.99 | 0.98 | Congenital disorder of glycosylation, type Il, | 608776 |
ALG9 | 136.2 | 0.99 | 0.98 | Gillessen-Kaesbach-Nishimura syndrome, | 263210 |
ALOX12B | 148.4 | 0.99 | 0.99 | Ichthyosis, congenital, autosomal recessive 2 | 242100 |
ALPL | 163.1 | 1 | 1 | Hypophosphatasia, adult, | 146300 |
ALPL | 163.1 | 1 | 1 | Hypophosphatasia, childhood, | 241510 |
ALPL | 163.1 | 1 | 1 | Hypophosphatasia, infantile, | 241500 |
ALPL | 163.1 | 1 | 1 | Odontohypophosphatasia, | 146300 |
AMACR | 161.6 | 0.99 | 0.98 | Alpha-methylacyl-CoA racemase deficiency, | 614307 |
AMACR | 161.6 | 0.99 | 0.98 | Bile acid synthesis defect, congenital, 4 | 214950 |
AMN | 69.2 | 0.86 | 0.75 | Megaloblastic anemia-1, Norwegian type, | 261100 |
AMPD3 | 146 | 0.99 | 0.98 | [AMP deaminase deficiency, erythrocytic], | 612874 |
AMT | 174 | 1 | 0.99 | Glycine encephalopathy, | 605899 |
AP1S1 | 121.3 | 1 | 0.99 | MEDNIK syndrome, | 609313 |
APOC2 | 111.6 | 1 | 1 | Hyperlipoproteinemia, type Ib, | 207750 |
APRT | 68.4 | 0.99 | 0.99 | Adenine phosphoribosyltransferase deficiency, | 614723 |
ARG1 | 172.1 | 1 | 1 | Argininemia, | 207800 |
ARSA | 111.5 | 1 | 0.99 | Metachromatic leukodystrophy, | 250100 |
ARSB | 144.1 | 0.98 | 0.95 | Mucopolysaccharidosis type VI (Maroteaux-Lamy), | 253200 |
ASAH1 | 141 | 0.98 | 0.92 | Farber lipogranulomatosis, | 228000 |
ASAH1 | 141 | 0.98 | 0.92 | Spinal muscular atrophy with progressive myoclonic epilepsy, | 159950 |
ASL | 118.4 | 0.99 | 0.98 | Argininosuccinic aciduria, | 207900 |
ASPA | 151.7 | 0.99 | 0.92 | Canavan disease, | 271900 |
ASS1 | 106.2 | 0.97 | 0.92 | Citrullinemia, | 215700 |
ATIC | 134.7 | 0.99 | 0.98 | AICA-ribosiduria due to ATIC deficiency, | 608688 |
ATP6V0A2 | 159.8 | 1 | 0.99 | Cutis laxa, autosomal recessive, type IIA, | 219200 |
ATP6V0A2 | 159.8 | 1 | 0.99 | Wrinkly skin syndrome, | 278250 |
ATP7A | 157.3 | 0.99 | 0.97 | Menkes disease, | 309400 |
ATP7A | 157.3 | 0.99 | 0.97 | Occipital horn syndrome, | 304150 |
ATP7A | 157.3 | 0.99 | 0.97 | Spinal muscular atrophy, distal, X-linked 3 | 300489 |
ATP7B | 173 | 0.99 | 0.99 | Wilson disease, | 277900 |
ATP8B1 | 169.2 | 0.95 | 0.93 | Cholestasis, benign recurrent intrahepatic, | 243300 |
ATP8B1 | 169.2 | 0.95 | 0.93 | Cholestasis, intrahepatic, of pregnancy, 1 | 147480 |
ATP8B1 | 169.2 | 0.95 | 0.93 | Cholestasis, progressive familial intrahepatic 1 | 211600 |
AUH | 89.3 | 0.98 | 0.92 | 3-methylglutaconic aciduria, type I, | 250950 |
B3GALNT1 | 127.9 | 1 | 0.98 | [Blood group, globoside system], | 615021 |
B3GALNT1 | 127.9 | 1 | 0.98 | [Blood group, P1PK system, P(k) phenotype], | 111400 |
B3GALNT2 | 134.9 | 0.92 | 0.9 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11 | 615181 |
B3GALTL | 113.5 | 0.96 | 0.92 | Peters-plus syndrome, | 261540 |
B3GAT3 | 101 | 0.99 | 0.95 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart | 261540 |
B3GAT3 | 101 | 0.99 | 0.95 | defects, | 245600 |
B3GNT1 | 126 | 1 | 1 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13 | 615287 |
B4GALT1 | 132.4 | 0.99 | 0.99 | Congenital disorder of glycosylation, type IId, | 607091 |
B4GALT7 | 116.3 | 0.96 | 0.95 | Ehlers-Danlos syndrome with short stature and limb anomalies, | 130070 |
BAAT | 140.3 | 0.98 | 0.95 | Hypercholanemia, familial, | 607748 |
BCKDHA | 186.9 | 0.99 | 0.99 | Maple syrup urine disease, type Ia, | 248600 |
BCKDHB | 124.4 | 0.89 | 0.81 | Maple syrup urine disease, type Ib, | 248600 |
BCMO1 | 184.8 | 1 | 1 | Hypercarotenemia and vitamin A deficiency, autosomal dominant, | 115300 |
BLVRA | 145.3 | 0.99 | 0.99 | Hyperbiliverdinemia, | 614156 |
BMP2 | 204.4 | 0.99 | 0.99 | Brachydactyly, type A2, | 112600 |
BMP2 | 204.4 | 0.99 | 0.99 | {HFE hemochromatosis, modifier of}, | 235200 |
BPGM | 126 | 1 | 1 | Erythrocytosis due to bisphosphoglycerate mutase deficiency, | 222800 |
BTD | 163.8 | 1 | 0.99 | Biotinidase deficiency, | 253260 |
C1GALT1C1 | 155.5 | 0.99 | 0.99 | Tn polyagglutination syndrome, somatic, | 300622 |
C7orf10 | 139.2 | 0.95 | 0.9 | Glutaric aciduria III, | 231690 |
CANT1 | 157.6 | 1 | 1 | Desbuquois dysplasia 1 | 251450 |
CAT | 186 | 1 | 0.99 | Acatalasemia, | 614097 |
CBS | 127.1 | 0.97 | 0.92 | Homocystinuria, B6-responsive and nonresponsive types, | 236200 |
CBS | 127.1 | 0.97 | 0.92 | Thrombosis, hyperhomocysteinemic, | 236200 |
CEL | 143.7 | 0.85 | 0.83 | Maturity-onset diabetes of the young, type VIII, | 609812 |
CERKL | 108.1 | 0.97 | 0.92 | Retinitis pigmentosa 26 | 608380 |
CERS3 | 139.7 | 1 | 0.99 | Ichthyosis, congenital, autosomal recessive 9 | 615023 |
CFTR | 142 | 0.98 | 0.96 | Congenital bilateral absence of vas deferens, | 277180 |
CFTR | 142 | 0.98 | 0.96 | Cystic fibrosis, | 219700 |
CFTR | 142 | 0.98 | 0.96 | Sweat chloride elevation without CF | 219700 |
CFTR | 142 | 0.98 | 0.96 | {Bronchiectasis with or without elevated sweat chloride 1 modifier of}, | 211400 |
CFTR | 142 | 0.98 | 0.96 | {Hypertrypsinemia, neonatal} | 211400 |
CFTR | 142 | 0.98 | 0.96 | {Pancreatitis, idiopathic}, | 167800 |
CHIT1 | 125.8 | 0.99 | 0.96 | [Chitotriosidase deficiency], | 614122 |
CHKB | 101.2 | 0.99 | 0.96 | Muscular dystrophy, congenital, megaconial type, | 602541 |
CHST14 | 190.5 | 0.96 | 0.94 | Ehlers-Danlos syndrome, musculocontractural type 1 | 601776 |
CHST3 | 93 | 0.99 | 0.96 | Spondyloepiphyseal dysplasia with congenital joint dislocations, | 143095 |
CHST6 | 328.3 | 1 | 1 | Macular corneal dystrophy, | 217800 |
CHSY1 | 148.3 | 0.96 | 0.94 | Temtamy preaxial brachydactyly syndrome, | 605282 |
CLN3 | 125.9 | 0.98 | 0.94 | Ceroid lipofuscinosis, neuronal, 3 | 204200 |
CLN5 | 163.1 | 0.98 | 0.93 | Ceroid lipofuscinosis, neuronal, 5 | 256731 |
CLN6 | 142.3 | 0.98 | 0.94 | Ceroid lipofuscinosis, neuronal, 6 | 601780 |
CLN6 | 142.3 | 0.98 | 0.94 | Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, | 204300 |
CLN8 | 252.4 | 1 | 1 | Ceroid lipofuscinosis, neuronal, 8 | 600143 |
CLN8 | 252.4 | 1 | 1 | Ceroid lipofuscinosis, neuronal, 8 Northern epilepsy variant, | 610003 |
CLPB | 152.7 | 0.96 | 0.95 | 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, | 616271 |
COG1 | 136 | 0.99 | 0.99 | Congenital disorder of glycosylation, type IIg, | 611209 |
COG4 | 139 | 1 | 0.99 | Congenital disorder of glycosylation, type IIj, | 613489 |
COG5 | 117.8 | 0.97 | 0.93 | Congenital disorder of glycosylation, type IIi, | 613612 |
COG6 | 92.4 | 0.93 | 0.85 | Congenital disorder of glycosylation, type IIl, | 614576 |
COG6 | 92.4 | 0.93 | 0.85 | Shaheen syndrome, | 615328 |
COG7 | 138.9 | 1 | 1 | Congenital disorder of glycosylation, type IIe, | 608779 |
COG8 | 124.6 | 0.99 | 0.96 | Congenital disorder of glycosylation, type IIh, | 611182 |
COMT | 218.2 | 1 | 0.99 | {Panic disorder, susceptibility to}, | 167870 |
COMT | 218.2 | 1 | 0.99 | {Schizophrenia, susceptibility to}, | 181500 |
CP | 141 | 0.94 | 0.9 | Cerebellar ataxia, | 604290 |
CP | 141 | 0.94 | 0.9 | Hemosiderosis, systemic, due to aceruloplasminemia, | 604290 |
CP | 141 | 0.94 | 0.9 | [Hypoceruloplasminemia, hereditary], | 604290 |
CPOX | 124.8 | 0.91 | 0.85 | Coproporphyria, | 121300 |
CPOX | 124.8 | 0.91 | 0.85 | Harderoporphyria, | 121300 |
CPS1 | 169.3 | 1 | 0.99 | Carbamoylphosphate synthetase I deficiency, | 237300 |
CPS1 | 169.3 | 1 | 0.99 | {Pulmonary hypertension, neonatal, susceptibility to}, | 615371 |
CPS1 | 169.3 | 1 | 0.99 | {Venoocclusive disease after bone marrow transplantation} | 615371 |
CPT1A | 192.2 | 1 | 0.98 | CPT deficiency, hepatic, type IA, | 255120 |
CPT2 | 168.6 | 0.98 | 0.96 | CPT deficiency, hepatic, type II, | 600649 |
CPT2 | 168.6 | 0.98 | 0.96 | CPT II deficiency, lethal neonatal, | 608836 |
CPT2 | 168.6 | 0.98 | 0.96 | Myopathy due to CPT II deficiency, | 255110 |
CPT2 | 168.6 | 0.98 | 0.96 | {Encephalopathy, acute, infection-induced, 4 susceptibility to}, | 614212 |
CTH | 188.9 | 0.99 | 0.99 | Cystathioninuria, | 219500 |
CTH | 188.9 | 0.99 | 0.99 | Homocysteine, total plasma, elevated | 219500 |
CTNS | 138.1 | 1 | 1 | Cystinosis, atypical nephropathic, | 219800 |
CTNS | 138.1 | 1 | 1 | Cystinosis, late-onset juvenile or adolescent nephropathic, | 219900 |
CTNS | 138.1 | 1 | 1 | Cystinosis, nephropathic, | 219800 |
CTNS | 138.1 | 1 | 1 | Cystinosis, ocular nonnephropathic, | 219750 |
CTSA | 149.8 | 0.99 | 0.99 | Galactosialidosis, | 256540 |
CTSC | 148.6 | 1 | 1 | Haim-Munk syndrome, | 245010 |
CTSC | 148.6 | 1 | 1 | Papillon-Lefevre syndrome, | 245000 |
CTSC | 148.6 | 1 | 1 | Periodontitis 1 juvenile, | 170650 |
CTSD | 183.6 | 0.99 | 0.98 | Ceroid lipofuscinosis, neuronal, 10 | 610127 |
CTSK | 117.2 | 1 | 0.99 | Pycnodysostosis, | 265800 |
CUBN | 141.9 | 0.99 | 0.98 | Megaloblastic anemia-1, Finnish type, | 261100 |
CYB5R3 | 184.9 | 0.98 | 0.98 | Methemoglobinemia, type I, | 250800 |
CYB5R3 | 184.9 | 0.98 | 0.98 | Methemoglobinemia, type II, | 250800 |
CYP11A1 | 141.1 | 0.99 | 0.97 | Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, | 613743 |
CYP11B1 | 182.2 | 0.99 | 0.99 | Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, | 202010 |
CYP11B1 | 182.2 | 0.99 | 0.99 | Aldosteronism, glucocorticoid-remediable, | 103900 |
CYP11B2 | 185.8 | 1 | 0.99 | Aldosterone to renin ratio raised | 103900 |
CYP11B2 | 185.8 | 1 | 0.99 | Hypoaldosteronism, congenital, due to CMO I deficiency, | 203400 |
CYP11B2 | 185.8 | 1 | 0.99 | Hypoaldosteronism, congenital, due to CMO II deficiency, | 610600 |
CYP11B2 | 185.8 | 1 | 0.99 | {Low renin hypertension, susceptibility to} | 610600 |
CYP17A1 | 146.2 | 1 | 0.99 | 17,20-lyase deficiency, isolated, | 202110 |
CYP17A1 | 146.2 | 1 | 0.99 | 17-alpha-hydroxylase/17,20-lyase deficiency, | 202110 |
CYP19A1 | 206.6 | 1 | 1 | Aromatase deficiency, | 613546 |
CYP19A1 | 206.6 | 1 | 1 | Aromatase excess syndrome, | 139300 |
CYP1B1 | 132.1 | 1 | 0.99 | Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, | 231300 |
CYP1B1 | 132.1 | 1 | 0.99 | Peters anomaly, | 604229 |
CYP21A2 | 15.3 | 0.56 | 0.3 | Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, | 201910 |
CYP21A2 | 15.3 | 0.56 | 0.3 | Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, | 201910 |
CYP27A1 | 188.7 | 0.97 | 0.95 | Cerebrotendinous xanthomatosis, | 213700 |
CYP27B1 | 137.1 | 0.99 | 0.98 | Vitamin D-dependent rickets, type I, | 264700 |
CYP2R1 | 151 | 0.96 | 0.91 | Rickets due to defect in vitamin D 25-hydroxylation, | 600081 |
CYP2U1 | 140.9 | 0.95 | 0.92 | Spastic paraplegia 56 autosomal recessive, | 615030 |
CYP7B1 | 106.9 | 0.95 | 0.9 | Bile acid synthesis defect, congenital, 3 | 613812 |
CYP7B1 | 106.9 | 0.95 | 0.9 | Spastic paraplegia 5A, autosomal recessive, | 270800 |
D2HGDH | 147.9 | 0.97 | 0.95 | D-2-hydroxyglutaric aciduria, | 600721 |
DAO | 144.9 | 1 | 1 | {Schizophrenia}, | 181500 |
DBH | 153.5 | 1 | 0.99 | Dopamine beta-hydroxylase deficiency, | 223360 |
DBH | 153.5 | 1 | 0.99 | [Dopamine-beta-hydroxylase activity levels, plasma] | 223360 |
DBT | 122.5 | 0.97 | 0.92 | Maple syrup urine disease, type II, | 248600 |
DCXR | 168.4 | 0.99 | 0.95 | [Pentosuria], | 260800 |
DDC | 118.6 | 0.99 | 0.96 | Aromatic L-amino acid decarboxylase deficiency, | 608643 |
DDHD1 | 166.1 | 0.96 | 0.94 | Spastic paraplegia 28 autosomal recessive, | 609340 |
DDOST | 129.1 | 0.99 | 0.99 | ?Congenital disorder of glycosylation, type Ir, | 614507 |
DGAT1 | 168.9 | 0.9 | 0.87 | ?Diarrhea 7 | 615863 |
DGKE | 157.9 | 0.98 | 0.93 | Nephrotic syndrome, type 7 | 615008 |
DGKE | 157.9 | 0.98 | 0.93 | {Hemolytic uremic syndrome, atypical, susceptibility to, 7}, | 615008 |
DGUOK | 134.6 | 0.99 | 0.98 | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), | 251880 |
DHCR24 | 203 | 1 | 0.99 | Desmosterolosis, | 602398 |
DHCR7 | 176.8 | 1 | 1 | Smith-Lemli-Opitz syndrome, | 270400 |
DHFR | 55 | 0.9 | 0.73 | Megaloblastic anemia due to dihydrofolate reductase deficiency, | 613839 |
DHODH | 111.8 | 1 | 0.99 | Miller syndrome, | 263750 |
DLD | 142 | 0.99 | 0.97 | Dihydrolipoamide dehydrogenase deficiency, | 246900 |
DMGDH | 171.2 | 0.99 | 0.97 | Dimethylglycine dehydrogenase deficiency, | 605850 |
DNAJC19 | 105.3 | 0.97 | 0.9 | 3-methylglutaconic aciduria, type V, | 610198 |
DNM1L | 131.5 | 0.99 | 0.96 | Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission, | 614388 |
DNM2 | 143.2 | 0.98 | 0.96 | Charcot-Marie-Tooth disease, axonal, type 2M, | 606482 |
DNM2 | 143.2 | 0.98 | 0.96 | Charcot-Marie-Tooth disease, dominant intermediate B, | 606482 |
DNM2 | 143.2 | 0.98 | 0.96 | Lethal congenital contracture syndrome 5 | 615368 |
DNM2 | 143.2 | 0.98 | 0.96 | Myopathy, centronuclear, | 160150 |
DNMT1 | 129 | 0.99 | 0.98 | Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, | 604121 |
DNMT1 | 129 | 0.99 | 0.98 | Neuropathy, hereditary sensory, type IE, | 614116 |
DNMT3B | 141 | 1 | 0.99 | Immunodeficiency-centromeric instability-facial anomalies syndrome 1 | 242860 |
DOLK | 201.8 | 0.99 | 0.99 | Congenital disorder of glycosylation, type Im, | 610768 |
DPAGT1 | 134.5 | 1 | 1 | Congenital disorder of glycosylation, type Ij, | 608093 |
DPAGT1 | 134.5 | 1 | 1 | Myasthenic syndrome, congenital, 13 with tubular aggregates, | 614750 |
DPM1 | 136.9 | 0.89 | 0.84 | Congenital disorder of glycosylation, type Ie, | 608799 |
DPM2 | 115.2 | 1 | 0.99 | Congenital disorder of glycosylation, type Iu, | 615042 |
DPM3 | 165.1 | 1 | 1 | Congenital disorder of glycosylation, type Io, | 612937 |
DPYD | 177.9 | 0.95 | 0.94 | 5-fluorouracil toxicity, | 274270 |
DPYD | 177.9 | 0.95 | 0.94 | Dihydropyrimidine dehydrogenase deficiency, | 274270 |
DPYS | 144.7 | 0.99 | 0.98 | Dihydropyrimidinuria, | 222748 |
EBP | 101.3 | 0.99 | 0.96 | Chondrodysplasia punctata, X-linked dominant, | 302960 |
EBP | 101.3 | 0.99 | 0.96 | MEND syndrome, | 300960 |
ECHS1 | 128 | 1 | 0.99 | Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, | 616277 |
ELOVL4 | 104.8 | 0.99 | 0.97 | Ichthyosis, spastic quadriplegia, and mental retardation, | 614457 |
ELOVL4 | 104.8 | 0.99 | 0.97 | Stargardt disease 3 | 600110 |
ELOVL4 | 104.8 | 0.99 | 0.97 | ?Spinocerebellar ataxia 34 | 133190 |
ENO3 | 202 | 1 | 0.99 | ?Glycogen storage disease XIII, | 612932 |
EPHX1 | 138.4 | 0.98 | 0.96 | Diphenylhydantoin toxicity | 612932 |
EPHX1 | 138.4 | 0.98 | 0.96 | Hypercholanemia, familial, | 607748 |
EPHX1 | 138.4 | 0.98 | 0.96 | ?Fetal hydantoin syndrome | 607748 |
EPHX1 | 138.4 | 0.98 | 0.96 | {Preeclampsia, susceptibility to}, | 189800 |
EPHX2 | 129.1 | 1 | 0.99 | {Hypercholesterolemia, familial, due to LDLR defect, modifier of}, | 143890 |
ETFA | 165.2 | 1 | 0.99 | Glutaric acidemia IIA, | 231680 |
ETFB | 128.1 | 1 | 1 | Glutaric acidemia IIB, | 231680 |
ETFDH | 116.1 | 0.99 | 0.98 | Glutaric acidemia IIC, | 231680 |
ETHE1 | 86.4 | 0.99 | 0.94 | Ethylmalonic encephalopathy, | 602473 |
EXT1 | 106.1 | 0.99 | 0.97 | Chondrosarcoma, | 215300 |
EXT1 | 106.1 | 0.99 | 0.97 | Exostoses, multiple, type 1 | 133700 |
EXT2 | 197.4 | 0.99 | 0.99 | Exostoses, multiple, type 2 | 133701 |
EXT2 | 197.4 | 0.99 | 0.99 | ?Seizures, scoliosis, and macrocephaly syndrome, | 616682 |
FA2H | 108.9 | 0.94 | 0.88 | Spastic paraplegia 35 autosomal recessive, | 612319 |
FAH | 173.1 | 1 | 0.99 | Tyrosinemia, type I, | 276700 |
FBP1 | 128.6 | 1 | 0.99 | Fructose-1,6-bisphosphatase deficiency, | 229700 |
FECH | 142.4 | 0.99 | 0.99 | Protoporphyria, erythropoietic, autosomal recessive, | 177000 |
FH | 175.4 | 0.92 | 0.88 | Fumarase deficiency, | 606812 |
FH | 175.4 | 0.92 | 0.88 | Leiomyomatosis and renal cell cancer, | 150800 |
FKRP | 93 | 0.99 | 0.98 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 | 613153 |
FKRP | 93 | 0.99 | 0.98 | Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 | 613153 |
FKRP | 93 | 0.99 | 0.98 | Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 | 606612 |
FKRP | 93 | 0.99 | 0.98 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 | 607155 |
FKTN | 157.4 | 0.98 | 0.93 | Cardiomyopathy, dilated, 1X, | 611615 |
FKTN | 157.4 | 0.98 | 0.93 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 | 253800 |
FKTN | 157.4 | 0.98 | 0.93 | Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 | 613152 |
FKTN | 157.4 | 0.98 | 0.93 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 | 611588 |
FMO3 | 177.1 | 1 | 0.99 | Trimethylaminuria, | 602079 |
FOLR1 | 166.3 | 1 | 1 | Neurodegeneration due to cerebral folate transport deficiency, | 613068 |
FTCD | 99.6 | 0.94 | 0.88 | Glutamate formiminotransferase deficiency, | 229100 |
FUCA1 | 156.2 | 0.99 | 0.99 | Fucosidosis, | 230000 |
FUT2 | 186.4 | 1 | 1 | [Bombay phenotype] | 230000 |
FUT2 | 186.4 | 1 | 1 | {Norwalk virus infection, resistance to} | 230000 |
FUT2 | 186.4 | 1 | 1 | {Vitamin B12 plasma level QTL1}, | 612542 |
FUT6 | 169.5 | 1 | 0.99 | Fucosyltransferase 6 deficiency, | 613852 |
G6PC | 219.4 | 1 | 1 | Glycogen storage disease Ia, | 232200 |
G6PC3 | 138.4 | 1 | 1 | Dursun syndrome, | 612541 |
G6PC3 | 138.4 | 1 | 1 | Neutropenia, severe congenital 4 autosomal recessive, | 612541 |
G6PD | 138 | 0.99 | 0.98 | Favism, | 134700 |
G6PD | 138 | 0.99 | 0.98 | Hemolytic anemia due to G6PD deficiency, | 300908 |
G6PD | 138 | 0.99 | 0.98 | {Resistance to malaria due to G6PD deficiency}, | 611162 |
GAA | 126.1 | 1 | 0.99 | Glycogen storage disease II, | 232300 |
GAD1 | 132.5 | 0.99 | 0.97 | ?Cerebral palsy, spastic quadriplegic, 1 | 603513 |
GALC | 112.3 | 0.97 | 0.93 | Krabbe disease, | 245200 |
GALE | 168.6 | 1 | 1 | Galactose epimerase deficiency, | 230350 |
GALK1 | 117.5 | 0.98 | 0.96 | Galactokinase deficiency with cataracts, | 230200 |
GALNS | 105.4 | 0.99 | 0.94 | Mucopolysaccharidosis IVA, | 253000 |
GALT | 168 | 1 | 1 | Galactosemia, | 230400 |
GAMT | 119.1 | 0.97 | 0.91 | Cerebral creatine deficiency syndrome 2 | 612736 |
GATM | 174.8 | 1 | 0.99 | Cerebral creatine deficiency syndrome 3 | 612718 |
GBA | 237.3 | 1 | 1 | Gaucher disease, perinatal lethal, | 608013 |
GBA | 237.3 | 1 | 1 | Gaucher disease, type I, | 230800 |
GBA | 237.3 | 1 | 1 | Gaucher disease, type II, | 230900 |
GBA | 237.3 | 1 | 1 | Gaucher disease, type III, | 231000 |
GBA | 237.3 | 1 | 1 | Gaucher disease, type IIIC, | 231005 |
GBA | 237.3 | 1 | 1 | {Lewy body dementia, susceptibility to}, | 127750 |
GBA | 237.3 | 1 | 1 | {Parkinson disease, late-onset, susceptibility to}, | 168600 |
GBA2 | 187.3 | 1 | 0.99 | Spastic paraplegia 46 autosomal recessive, | 614409 |
GBE1 | 171.8 | 0.99 | 0.97 | Glycogen storage disease IV, | 232500 |
GBE1 | 171.8 | 0.99 | 0.97 | Polyglucosan body disease, adult form, | 263570 |
GCDH | 148.6 | 0.93 | 0.91 | Glutaricaciduria, type I, | 231670 |
GCH1 | 91.2 | 0.95 | 0.86 | Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, | 128230 |
GCH1 | 91.2 | 0.95 | 0.86 | Hyperphenylalaninemia, BH4-deficient, B, | 233910 |
GCK | 155.4 | 1 | 1 | Diabetes mellitus, noninsulin-dependent, late onset, | 125853 |
GCK | 155.4 | 1 | 1 | Diabetes mellitus, permanent neonatal, | 606176 |
GCK | 155.4 | 1 | 1 | Hyperinsulinemic hypoglycemia, familial, 3 | 602485 |
GCK | 155.4 | 1 | 1 | MODY, type II, | 125851 |
GCLC | 150.4 | 0.99 | 0.98 | Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency, | 230450 |
GCLC | 150.4 | 0.99 | 0.98 | {Myocardial infarction, susceptibility to}, | 608446 |
GCLM | 132.5 | 0.98 | 0.93 | {Myocardial infarction, susceptibility to}, | 608446 |
GCSH | 38.8 | 0.83 | 0.62 | Glycine encephalopathy, | 605899 |
GFPT1 | 160.1 | 0.99 | 0.97 | Myasthenia, congenital, 12 with tubular aggregates, | 610542 |
GK | 51.7 | 0.77 | 0.62 | Glycerol kinase deficiency, | 307030 |
GLA | 87.1 | 0.99 | 0.97 | Fabry disease, | 301500 |
GLA | 87.1 | 0.99 | 0.97 | Fabry disease, cardiac variant, | 301500 |
GLB1 | 93.9 | 0.99 | 0.95 | GM1-gangliosidosis, type I, | 230500 |
GLB1 | 93.9 | 0.99 | 0.95 | GM1-gangliosidosis, type II, | 230600 |
GLB1 | 93.9 | 0.99 | 0.95 | GM1-gangliosidosis, type III, | 230650 |
GLB1 | 93.9 | 0.99 | 0.95 | Mucopolysaccharidosis type IVB (Morquio), | 253010 |
GLDC | 90.1 | 0.91 | 0.84 | Glycine encephalopathy, | 605899 |
GLRA1 | 136.5 | 1 | 1 | Hyperekplexia, hereditary 1 autosomal dominant or recessive, | 149400 |
GLRX5 | 102.2 | 0.93 | 0.86 | Anemia, sideroblastic, 3 pyridoxine-refractory, | 616860 |
GLRX5 | 102.2 | 0.93 | 0.86 | Spasticity, childhood-onset, with hyperglycinemia, | 616859 |
GLUD1 | 82.4 | 0.94 | 0.86 | Hyperinsulinism-hyperammonemia syndrome, | 606762 |
GLUL | 101.8 | 0.99 | 0.97 | Glutamine deficiency, congenital, | 610015 |
GLYCTK | 239 | 0.99 | 0.99 | D-glyceric aciduria, | 220120 |
GM2A | 143.6 | 1 | 0.99 | GM2-gangliosidosis, AB variant, | 272750 |
GMPPB | 256.1 | 1 | 1 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 | 615350 |
GMPPB | 256.1 | 1 | 1 | Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 | 615351 |
GMPPB | 256.1 | 1 | 1 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 | 615352 |
GMPS | 121 | 0.97 | 0.92 | No OMIM phenotype | 615352 |
GMPS | 121 | 0.97 | 0.92 | Leukemia, acute myelogenous, | 601626 |
GNE | 176.5 | 0.99 | 0.99 | Nonaka myopathy, | 605820 |
GNE | 176.5 | 0.99 | 0.99 | Sialuria, | 269921 |
GNMT | 180 | 0.99 | 0.97 | Glycine N-methyltransferase deficiency, | 606664 |
GNPAT | 159.6 | 0.98 | 0.95 | Rhizomelic chondrodysplasia punctata, type 2 | 222765 |
GNPTAB | 192 | 0.98 | 0.97 | Mucolipidosis II alpha/beta, | 252500 |
GNPTAB | 192 | 0.98 | 0.97 | Mucolipidosis III alpha/beta, | 252600 |
GNPTG | 156.3 | 0.95 | 0.89 | Mucolipidosis III gamma, | 252605 |
GNS | 123 | 0.96 | 0.91 | Mucopolysaccharidosis type IIID, | 252940 |
GOT1 | 140 | 1 | 0.98 | Aspartate aminotransferase, serum level of, QTL1, | 614419 |
GPD1 | 116.2 | 0.99 | 0.97 | Hypertriglyceridemia, transient infantile, | 614480 |
GPD1L | 173.4 | 1 | 0.99 | Brugada syndrome 2 | 611777 |
GPHN | 192.1 | 0.98 | 0.97 | Molybdenum cofactor deficiency C, | 615501 |
GPI | 159.4 | 1 | 0.99 | Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, | 613470 |
GPX1 | 38.2 | 0.87 | 0.74 | Hemolytic anemia due to glutathione peroxidase deficiency, | 614164 |
GRHPR | 120.1 | 0.84 | 0.79 | Hyperoxaluria, primary, type II, | 260000 |
GSS | 113.1 | 1 | 0.99 | Glutathione synthetase deficiency, | 266130 |
GSS | 113.1 | 1 | 0.99 | Hemolytic anemia due to glutathione synthetase deficiency, | 231900 |
GUSB | 125.1 | 0.9 | 0.87 | Mucopolysaccharidosis VII, | 253220 |
GYG1 | 145.7 | 0.99 | 0.98 | Polyglucosan body myopathy 2 | 616199 |
GYG1 | 145.7 | 0.99 | 0.98 | ?Glycogen storage disease XV, | 613507 |
GYS1 | 122.6 | 0.99 | 0.98 | Glycogen storage disease 0 muscle, | 611556 |
GYS2 | 183.5 | 0.98 | 0.94 | Glycogen storage disease 0 liver, | 240600 |
H6PD | 177.8 | 0.99 | 0.99 | Cortisone reductase deficiency 1 | 604931 |
HADH | 120.8 | 0.97 | 0.95 | 3-hydroxyacyl-CoA dehydrogenase deficiency, | 231530 |
HADH | 120.8 | 0.97 | 0.95 | Hyperinsulinemic hypoglycemia, familial, 4 | 609975 |
HADHA | 90.1 | 0.95 | 0.9 | Fatty liver, acute, of pregnancy, | 609016 |
HADHA | 90.1 | 0.95 | 0.9 | HELLP syndrome, maternal, of pregnancy, | 609016 |
HADHA | 90.1 | 0.95 | 0.9 | LCHAD deficiency, | 609016 |
HADHA | 90.1 | 0.95 | 0.9 | Trifunctional protein deficiency, | 609015 |
HADHB | 100.9 | 0.94 | 0.85 | Trifunctional protein deficiency, | 609015 |
HAGH | 139.3 | 0.99 | 0.96 | [Glyoxalase II deficiency], | 614033 |
HEXA | 143.7 | 1 | 0.99 | GM2-gangliosidosis, several forms, | 272800 |
HEXA | 143.7 | 1 | 0.99 | Tay-Sachs disease, | 272800 |
HEXA | 143.7 | 1 | 0.99 | [Hex A pseudodeficiency], | 272800 |
HEXB | 152.6 | 0.97 | 0.91 | Sandhoff disease, infantile, juvenile, and adult forms, | 268800 |
HFE | 155 | 0.99 | 0.99 | Hemochromatosis, | 235200 |
HFE | 155 | 0.99 | 0.99 | [Transferrin serum level QTL2], | 614193 |
HFE | 155 | 0.99 | 0.99 | {Alzheimer disease, susceptibility to}, | 104300 |
HFE | 155 | 0.99 | 0.99 | {Microvascular complications of diabetes 7}, | 612635 |
HFE | 155 | 0.99 | 0.99 | {Porphyria cutanea tarda, susceptibility to}, | 176100 |
HFE | 155 | 0.99 | 0.99 | {Porphyria variegata, susceptibility to}, | 176200 |
HGD | 143.1 | 0.99 | 0.98 | Alkaptonuria, | 203500 |
HGSNAT | 116.9 | 0.82 | 0.8 | Mucopolysaccharidosis type IIIC (Sanfilippo C), | 252930 |
HGSNAT | 116.9 | 0.82 | 0.8 | Retinitis pigmentosa 73 | 616544 |
HIBADH | 108.2 | 0.92 | 0.9 | No OMIM phenotype | 616544 |
HIBCH | 76.2 | 0.91 | 0.72 | 3-hydroxyisobutryl-CoA hydrolase deficiency, | 250620 |
HK1 | 160.1 | 0.99 | 0.99 | Hemolytic anemia due to hexokinase deficiency, | 235700 |
HK1 | 160.1 | 0.99 | 0.99 | Neuropathy, hereditary motor and sensory, Russe type, | 605285 |
HLCS | 193.1 | 1 | 1 | Holocarboxylase synthetase deficiency, | 253270 |
HMBS | 117.7 | 1 | 0.99 | Porphyria, acute intermittent, | 176000 |
HMBS | 117.7 | 1 | 0.99 | Porphyria, acute intermittent, nonerythroid variant, | 176000 |
HMGCL | 152.4 | 0.99 | 0.99 | HMG-CoA lyase deficiency, | 246450 |
HMGCS2 | 149.9 | 1 | 1 | HMG-CoA synthase-2 deficiency, | 605911 |
HMOX1 | 142.1 | 0.97 | 0.9 | Heme oxygenase-1 deficiency, | 614034 |
HMOX1 | 142.1 | 0.97 | 0.9 | {Pulmonary disease, chronic obstructive, susceptibility to}, | 606963 |
HOGA1 | 154.2 | 1 | 0.97 | Hyperoxaluria, primary, type III, | 613616 |
HPD | 151.2 | 1 | 0.99 | Hawkinsinuria, | 140350 |
HPD | 151.2 | 1 | 0.99 | Tyrosinemia, type III, | 276710 |
HPRT1 | 75.3 | 0.94 | 0.84 | HPRT-related gout, | 300323 |
HPRT1 | 75.3 | 0.94 | 0.84 | Lesch-Nyhan syndrome, | 300322 |
HS6ST1 | 68.9 | 0.93 | 0.84 | {Hypogonadotropic hypogonadism 15 with or without anosmia}, | 614880 |
HSD11B1 | 190.2 | 1 | 1 | Cortisone reductase deficiency 2 | 614662 |
HSD11B2 | 166.6 | 0.87 | 0.84 | Apparent mineralocorticoid excess, | 218030 |
HSD17B10 | 120.3 | 1 | 0.98 | 17-beta-hydroxysteroid dehydrogenase X deficiency, | 300438 |
HSD17B10 | 120.3 | 1 | 0.98 | ?Mental retardation, X-linked syndromic 10 | 300220 |
HSD17B3 | 172 | 1 | 1 | Pseudohermaphroditism, male, with gynecomastia, | 264300 |
HSD17B4 | 110.3 | 0.94 | 0.91 | D-bifunctional protein deficiency, | 261515 |
HSD17B4 | 110.3 | 0.94 | 0.91 | Perrault syndrome 1 | 233400 |
HSD3B2 | 178.2 | 1 | 1 | 3-beta-hydroxysteroid dehydrogenase, type II, deficiency, | 201810 |
HSD3B7 | 154.3 | 0.99 | 0.93 | Bile acid synthesis defect, congenital, 1 | 607765 |
HYAL1 | 125 | 1 | 1 | ?Mucopolysaccharidosis type IX, | 601492 |
IDH2 | 108.8 | 0.99 | 0.98 | D-2-hydroxyglutaric aciduria 2 | 613657 |
IDH3B | 186.6 | 1 | 1 | Retinitis pigmentosa 46 | 612572 |
IDS | 119.1 | 0.99 | 0.98 | Mucopolysaccharidosis II, | 309900 |
IDUA | 116.9 | 0.91 | 0.85 | Mucopolysaccharidosis Ih, | 607014 |
IDUA | 116.9 | 0.91 | 0.85 | Mucopolysaccharidosis Ih/s, | 607015 |
IDUA | 116.9 | 0.91 | 0.85 | Mucopolysaccharidosis Is, | 607016 |
IMPAD1 | 152.6 | 0.99 | 0.99 | Chondrodysplasia with joint dislocations, GPAPP type, | 614078 |
IMPDH1 | 60.2 | 0.92 | 0.81 | Leber congenital amaurosis 11 | 613837 |
IMPDH1 | 60.2 | 0.92 | 0.81 | Retinitis pigmentosa 10 | 180105 |
INPP5E | 105.1 | 0.96 | 0.91 | Joubert syndrome 1 | 213300 |
INPP5E | 105.1 | 0.96 | 0.91 | Mental retardation, truncal obesity, retinal dystrophy, and micropenis, | 610156 |
INPPL1 | 136.5 | 0.98 | 0.95 | Opsismodysplasia, | 258480 |
ISPD | 120 | 0.95 | 0.85 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 | 614643 |
ISPD | 120 | 0.95 | 0.85 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 | 616052 |
IVD | 126 | 0.99 | 0.99 | Isovaleric acidemia, | 243500 |
KMT2A | 173.8 | 0.99 | 0.98 | Leukemia, myeloid/lymphoid or mixed-lineage | 243500 |
KMT2A | 173.8 | 0.99 | 0.98 | Wiedemann-Steiner syndrome, | 605130 |
KMT2D | 162.1 | 0.99 | 0.99 | Kabuki syndrome 1 | 147920 |
L2HGDH | 139.8 | 0.98 | 0.96 | L-2-hydroxyglutaric aciduria, | 236792 |
LAMP2 | 134.3 | 0.92 | 0.91 | Danon disease, | 300257 |
LARGE | 145.9 | 0.99 | 0.98 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 | 613154 |
LARGE | 145.9 | 0.99 | 0.98 | Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 | 608840 |
LCAT | 160.7 | 0.99 | 0.96 | Fish-eye disease, | 136120 |
LCAT | 160.7 | 0.99 | 0.96 | Norum disease, | 245900 |
LCT | 146.7 | 0.99 | 0.98 | Lactase deficiency, congenital, | 223000 |
LDHA | 60.1 | 0.92 | 0.86 | Glycogen storage disease XI, | 612933 |
LDHB | 115.9 | 0.97 | 0.86 | [Lactate dehydrogenase-B deficiency], | 614128 |
LFNG | 95.6 | 0.84 | 0.82 | ?Spondylocostal dysostosis 3 autosomal recessive, | 609813 |
LIPA | 129.1 | 0.96 | 0.94 | Cholesteryl ester storage disease, | 278000 |
LIPA | 129.1 | 0.96 | 0.94 | Wolman disease, | 278000 |
LIPC | 134.6 | 0.99 | 0.99 | Hepatic lipase deficiency, | 614025 |
LIPC | 134.6 | 0.99 | 0.99 | [High density lipoprotein cholesterol level QTL 12], | 612797 |
LIPC | 134.6 | 0.99 | 0.99 | {Diabetes mellitus, noninsulin-dependent}, | 125853 |
LMBRD1 | 81.3 | 0.89 | 0.81 | Methylmalonic aciduria and homocystinuria, cblF type, | 277380 |
LPIN1 | 144.7 | 0.99 | 0.94 | Myoglobinuria, acute recurrent, autosomal recessive, | 268200 |
LPIN2 | 129.6 | 0.99 | 0.99 | Majeed syndrome, | 609628 |
LPL | 183.3 | 1 | 0.99 | Combined hyperlipidemia, familial, | 144250 |
LPL | 183.3 | 1 | 0.99 | Lipoprotein lipase deficiency, | 238600 |
LPL | 183.3 | 1 | 0.99 | [High density lipoprotein cholesterol level QTL 11] | 238600 |
LRAT | 324 | 1 | 0.99 | Leber congenital amaurosis 14 | 613341 |
LRAT | 324 | 1 | 0.99 | Retinal dystrophy, early-onset severe, | 613341 |
LRAT | 324 | 1 | 0.99 | Retinitis pigmentosa, juvenile, | 613341 |
LTC4S | 60.5 | 0.79 | 0.64 | Leukotriene C4 synthase deficiency, | 614037 |
LYST | 151.3 | 0.97 | 0.94 | Chediak-Higashi syndrome, | 214500 |
MAN1B1 | 156.2 | 0.99 | 0.99 | Mental retardation, autosomal recessive 15 | 614202 |
MAN2B1 | 137.2 | 0.98 | 0.96 | Mannosidosis, alpha-, types I and II, | 248500 |
MANBA | 144.2 | 0.99 | 0.95 | Mannosidosis, beta, | 248510 |
MAOA | 142.8 | 1 | 0.99 | Brunner syndrome, | 300615 |
MAOA | 142.8 | 1 | 0.99 | {Antisocial behavior}, | 300615 |
MAT1A | 196.4 | 0.99 | 0.96 | Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III | 300615 |
MAT1A | 196.4 | 0.99 | 0.96 | deficiency, | 250850 |
MAT1A | 196.4 | 0.99 | 0.96 | Methionine adenosyltransferase deficiency, autosomal recessive, | 250850 |
MCCC1 | 169.5 | 0.99 | 0.99 | 3-Methylcrotonyl-CoA carboxylase 1 deficiency, | 210200 |
MCCC2 | 142 | 0.99 | 0.98 | 3-Methylcrotonyl-CoA carboxylase 2 deficiency, | 210210 |
MCEE | 110.4 | 1 | 1 | Methylmalonyl-CoA epimerase deficiency, | 251120 |
MCOLN1 | 166.6 | 0.98 | 0.96 | Mucolipidosis IV, | 252650 |
MFSD8 | 137.1 | 0.99 | 0.98 | Ceroid lipofuscinosis, neuronal, 7 | 610951 |
MFSD8 | 137.1 | 0.99 | 0.98 | Macular dystrophy with central cone involvement, | 616170 |
MGAT2 | 168.8 | 1 | 0.99 | Congenital disorder of glycosylation, type IIa, | 212066 |
MINPP1 | 166.8 | 0.98 | 0.94 | Thyroid carcinoma, follicular, | 188470 |
MLYCD | 93.2 | 0.94 | 0.91 | Malonyl-CoA decarboxylase deficiency, | 248360 |
MMAA | 201.9 | 0.99 | 0.99 | Methylmalonic aciduria, vitamin B12-responsive, | 251100 |
MMAB | 121.2 | 0.99 | 0.99 | Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB | 251100 |
MMAB | 121.2 | 0.99 | 0.99 | complementation type, | 251110 |
MMACHC | 205.3 | 1 | 1 | Methylmalonic aciduria and homocystinuria, cblC type, | 277400 |
MMADHC | 82.8 | 0.87 | 0.74 | Homocystinuria, cblD type, variant 1 | 277410 |
MMADHC | 82.8 | 0.87 | 0.74 | Methylmalonic aciduria and homocystinuria, cblD type, | 277410 |
MMADHC | 82.8 | 0.87 | 0.74 | Methylmalonic aciduria, cblD type, variant 2 | 277410 |
MOCS1 | 92.2 | 0.98 | 0.93 | Molybdenum cofactor deficiency A, | 252150 |
MOCS2 | 156.7 | 0.99 | 0.98 | Molybdenum cofactor deficiency B, | 252160 |
MOGS | 121.3 | 0.99 | 0.98 | Congenital disorder of glycosylation, type IIb, | 606056 |
MPDU1 | 131.9 | 1 | 0.99 | Congenital disorder of glycosylation, type If, | 609180 |
MPI | 137.4 | 1 | 1 | Congenital disorder of glycosylation, type Ib, | 602579 |
MSMO1 | 45.6 | 0.87 | 0.75 | Microcephaly, congenital cataract, and psoriasiform dermatitis, | 616834 |
MTHFD1 | 157.8 | 0.99 | 0.97 | {Abruptio placentae, susceptibility to} | 616834 |
MTHFD1 | 157.8 | 0.99 | 0.97 | {Spina bifida, folate-sensitive, susceptibility to}, | 601634 |
MTHFR | 153.2 | 1 | 0.99 | Homocystinuria due to MTHFR deficiency, | 236250 |
MTHFR | 153.2 | 1 | 0.99 | {Neural tube defects, susceptibility to}, | 601634 |
MTHFR | 153.2 | 1 | 0.99 | {Schizophrenia, susceptibility to}, | 181500 |
MTHFR | 153.2 | 1 | 0.99 | {Thromboembolism, susceptibility to}, | 188050 |
MTHFR | 153.2 | 1 | 0.99 | {Vascular disease, susceptibility to} | 188050 |
MTM1 | 115.4 | 0.97 | 0.89 | Myotubular myopathy, X-linked, | 310400 |
MTMR2 | 130.1 | 0.99 | 0.98 | Charcot-Marie-Tooth disease, type 4B1, | 601382 |
MTR | 158.9 | 0.99 | 0.99 | Homocystinuria-megaloblastic anemia, cblG complementation type, | 250940 |
MTR | 158.9 | 0.99 | 0.99 | {Neural tube defects, folate-sensitive, susceptibility to}, | 601634 |
MTRR | 143 | 0.99 | 0.98 | Homocystinuria-megaloblastic anemia, cbl E type, | 236270 |
MTRR | 143 | 0.99 | 0.98 | {Neural tube defects, folate-sensitive, susceptibility to}, | 601634 |
MUT | 130.1 | 0.99 | 0.95 | Methylmalonic aciduria, mut(0) type, | 251000 |
MVK | 146.1 | 1 | 0.99 | Hyper-IgD syndrome, | 260920 |
MVK | 146.1 | 1 | 0.99 | Mevalonic aciduria, | 610377 |
MVK | 146.1 | 1 | 0.99 | Porokeratosis 3 multiple types, | 175900 |
NAGA | 162.6 | 1 | 1 | Kanzaki disease, | 609242 |
NAGA | 162.6 | 1 | 1 | Schindler disease, type I, | 609241 |
NAGA | 162.6 | 1 | 1 | Schindler disease, type III, | 609241 |
NAGLU | 123.7 | 0.93 | 0.91 | Mucopolysaccharidosis type IIIB (Sanfilippo B), | 252920 |
NAGLU | 123.7 | 0.93 | 0.91 | ?Charcot-Marie-Tooth disease, axonal, type 2V, | 616491 |
NAGS | 80.6 | 0.97 | 0.91 | N-acetylglutamate synthase deficiency, | 237310 |
NEU1 | 19.8 | 0.73 | 0.44 | Sialidosis, type I, | 256550 |
NEU1 | 19.8 | 0.73 | 0.44 | Sialidosis, type II, | 256550 |
NMNAT1 | 143.8 | 0.99 | 0.97 | Leber congenital amaurosis 9 | 608553 |
NNT | 157 | 0.99 | 0.97 | Glucocorticoid deficiency 4 | 614736 |
NPC1 | 162.1 | 0.99 | 0.98 | Niemann-Pick disease, type C1, | 257220 |
NPC1 | 162.1 | 0.99 | 0.98 | Niemann-Pick disease, type D, | 257220 |
NPC1 | 162.1 | 0.99 | 0.98 | {Nasopharyngeal carcinoma 1} | 257220 |
NPC2 | 144 | 1 | 0.99 | Niemann-pick disease, type C2, | 607625 |
NSD1 | 172.3 | 1 | 0.99 | Beckwith-Wiedemann syndrome, | 130650 |
NSD1 | 172.3 | 1 | 0.99 | Leukemia, acute myeloid, | 601626 |
NSD1 | 172.3 | 1 | 0.99 | Sotos syndrome 1 | 117550 |
NSDHL | 205.2 | 0.99 | 0.99 | CHILD syndrome, | 308050 |
NSDHL | 205.2 | 0.99 | 0.99 | CK syndrome, | 300831 |
NT5C3A | 66.5 | 0.87 | 0.74 | Anemia, hemolytic, due to UMPH1 deficiency, | 266120 |
NT5E | 192.1 | 1 | 0.99 | Calcification of joints and arteries, | 211800 |
OAT | 94.1 | 0.76 | 0.68 | Gyrate atrophy of choroid and retina with or without ornithinemia, | 258870 |
OCRL | 152.2 | 0.99 | 0.97 | Dent disease 2 | 300555 |
OCRL | 152.2 | 0.99 | 0.97 | Lowe syndrome, | 309000 |
OPA3 | 122 | 0.99 | 0.96 | 3-methylglutaconic aciduria, type III, | 258501 |
OPA3 | 122 | 0.99 | 0.96 | Optic atrophy 3 with cataract, | 165300 |
OPLAH | 114.7 | 0.99 | 0.98 | 5-oxoprolinase deficiency, | 260005 |
OTC | 143.9 | 1 | 0.99 | Ornithine transcarbamylase deficiency, | 311250 |
OXCT1 | 129.1 | 0.99 | 0.97 | Succinyl CoA:3-oxoacid CoA transferase deficiency, | 245050 |
PAH | 191.3 | 1 | 1 | Phenylketonuria, | 261600 |
PAH | 191.3 | 1 | 1 | [Hyperphenylalaninemia, non-PKU mild], | 261600 |
PANK2 | 177.5 | 0.99 | 0.96 | HARP syndrome, | 607236 |
PANK2 | 177.5 | 0.99 | 0.96 | Neurodegeneration with brain iron accumulation 1 | 234200 |
PC | 162.8 | 0.99 | 0.97 | Pyruvate carboxylase deficiency, | 266150 |
PCBD1 | 124.7 | 0.99 | 0.99 | Hyperphenylalaninemia, BH4-deficient, D, | 264070 |
PCCA | 116.6 | 0.96 | 0.91 | Propionicacidemia, | 606054 |
PCCB | 160.5 | 0.97 | 0.95 | Propionicacidemia, | 606054 |
PEPD | 121.4 | 0.99 | 0.98 | Prolidase deficiency, | 170100 |
PEX1 | 123.4 | 0.97 | 0.95 | Heimler syndrome 1 | 234580 |
PEX1 | 123.4 | 0.97 | 0.95 | Peroxisome biogenesis disorder 1A (Zellweger), | 214100 |
PEX1 | 123.4 | 0.97 | 0.95 | Peroxisome biogenesis disorder 1B (NALD/IRD), | 601539 |
PEX10 | 118.3 | 0.97 | 0.93 | Peroxisome biogenesis disorder 6A (Zellweger), | 614870 |
PEX10 | 118.3 | 0.97 | 0.93 | Peroxisome biogenesis disorder 6B, | 614871 |
PEX11B | 123.3 | 0.99 | 0.99 | Peroxisome biogenesis disorder 14B, | 614920 |
PEX12 | 165.4 | 1 | 0.99 | Peroxisome biogenesis disorder 3A (Zellweger), | 614859 |
PEX12 | 165.4 | 1 | 0.99 | Peroxisome biogenesis disorder 3B, | 266510 |
PEX13 | 212.2 | 0.99 | 0.98 | Peroxisome biogenesis disorder 11A (Zellweger), | 614883 |
PEX13 | 212.2 | 0.99 | 0.98 | Peroxisome biogenesis disorder 11B, | 614885 |
PEX14 | 143.6 | 0.99 | 0.98 | Peroxisome biogenesis disorder 13A (Zellweger), | 614887 |
PEX16 | 138.5 | 0.96 | 0.92 | Peroxisome biogenesis disorder 8A, (Zellweger), | 614876 |
PEX16 | 138.5 | 0.96 | 0.92 | Peroxisome biogenesis disorder 8B, | 614877 |
PEX19 | 121 | 1 | 0.99 | Peroxisome biogenesis disorder 12A (Zellweger), | 614886 |
PEX2 | 169.7 | 1 | 1 | Peroxisome biogenesis disorder 5A (Zellweger), | 614866 |
PEX2 | 169.7 | 1 | 1 | Peroxisome biogenesis disorder 5B, | 614867 |
PEX26 | 86.5 | 0.99 | 0.99 | Peroxisome biogenesis disorder 7A (Zellweger), | 614872 |
PEX26 | 86.5 | 0.99 | 0.99 | Peroxisome biogenesis disorder 7B, | 614873 |
PEX3 | 108.8 | 0.98 | 0.94 | Peroxisome biogenesis disorder 10A (Zellweger), | 614882 |
PEX5 | 126.7 | 0.99 | 0.97 | Peroxisome biogenesis disorder 2A (Zellweger), | 214110 |
PEX5 | 126.7 | 0.99 | 0.97 | Peroxisome biogenesis disorder 2B, | 202370 |
PEX5 | 126.7 | 0.99 | 0.97 | Rhizomelic chondrodysplasia punctata, type 5 | 616716 |
PEX6 | 92 | 0.9 | 0.84 | Heimler syndrome 2 | 616617 |
PEX6 | 92 | 0.9 | 0.84 | Peroxisome biogenesis disorder 4A (Zellweger), | 614862 |
PEX6 | 92 | 0.9 | 0.84 | Peroxisome biogenesis disorder 4B, | 614863 |
PEX7 | 138.5 | 0.89 | 0.85 | Peroxisome biogenesis disorder 9B, | 614879 |
PEX7 | 138.5 | 0.89 | 0.85 | Rhizomelic chondrodysplasia punctata, type 1 | 215100 |
PFKM | 175.3 | 1 | 0.99 | Glycogen storage disease VII, | 232800 |
PGAM2 | 168.7 | 1 | 1 | Glycogen storage disease X, | 261670 |
PGAP2 | 186.1 | 1 | 1 | Hyperphosphatasia with mental retardation syndrome 3 | 614207 |
PGK1 | 60 | 0.92 | 0.81 | Phosphoglycerate kinase 1 deficiency, | 300653 |
PGM1 | 143.1 | 0.99 | 0.99 | Congenital disorder of glycosylation, type It, | 614921 |
PHGDH | 138.6 | 1 | 0.99 | Neu-Laxova syndrome 1 | 256520 |
PHGDH | 138.6 | 1 | 0.99 | Phosphoglycerate dehydrogenase deficiency, | 601815 |
PHKA1 | 132.8 | 0.98 | 0.96 | Muscle glycogenosis, | 300559 |
PHKA2 | 130.1 | 1 | 0.99 | Glycogen storage disease, type IXa1, | 306000 |
PHKA2 | 130.1 | 1 | 0.99 | Glycogen storage disease, type IXa2, | 306000 |
PHYH | 86.5 | 0.98 | 0.92 | Refsum disease, | 266500 |
PIGA | 102.1 | 0.92 | 0.84 | Multiple congenital anomalies-hypotonia-seizures syndrome 2 | 300868 |
PIGA | 102.1 | 0.92 | 0.84 | Paroxysmal nocturnal hemoglobinuria, somatic, | 300818 |
PIGL | 136.6 | 1 | 0.98 | CHIME syndrome, | 280000 |
PIGM | 160.8 | 1 | 1 | Glycosylphosphatidylinositol deficiency, | 610293 |
PIGN | 128.6 | 0.95 | 0.89 | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | 614080 |
PIGO | 140.6 | 1 | 0.99 | Hyperphosphatasia with mental retardation syndrome 2 | 614749 |
PIGT | 174.6 | 0.99 | 0.99 | Multiple congenital anomalies-hypotonia-seizures syndrome 3 | 615398 |
PIGT | 174.6 | 0.99 | 0.99 | ?Paroxysmal nocturnal hemoglobinuria 2 | 615399 |
PIGV | 171.1 | 1 | 1 | Hyperphosphatasia with mental retardation syndrome 1 | 239300 |
PIK3CA | 136.5 | 0.99 | 0.98 | Breast cancer, somatic, | 114480 |
PIK3CA | 136.5 | 0.99 | 0.98 | CLOVE syndrome, somatic, | 612918 |
PIK3CA | 136.5 | 0.99 | 0.98 | Colorectal cancer, somatic, | 114500 |
PIK3CA | 136.5 | 0.99 | 0.98 | Cowden syndrome 5 | 615108 |
PIK3CA | 136.5 | 0.99 | 0.98 | Gastric cancer, somatic, | 613659 |
PIK3CA | 136.5 | 0.99 | 0.98 | Hepatocellular carcinoma, somatic, | 114550 |
PIK3CA | 136.5 | 0.99 | 0.98 | Keratosis, seborrheic, somatic, | 182000 |
PIK3CA | 136.5 | 0.99 | 0.98 | Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, | 602501 |
PIK3CA | 136.5 | 0.99 | 0.98 | Nevus, epidermal, somatic, | 162900 |
PIK3CA | 136.5 | 0.99 | 0.98 | Nonsmall cell lung cancer, somatic, | 211980 |
PIK3CA | 136.5 | 0.99 | 0.98 | Ovarian cancer, somatic, | 167000 |
PIK3R1 | 144 | 0.99 | 0.96 | Immunodeficiency 36 | 616005 |
PIK3R1 | 144 | 0.99 | 0.96 | SHORT syndrome, | 269880 |
PIK3R1 | 144 | 0.99 | 0.96 | ?Agammaglobulinemia 7 autosomal recessive, | 615214 |
PIK3R2 | 96.5 | 0.89 | 0.86 | Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 | 603387 |
PIK3R5 | 123.1 | 1 | 0.99 | Ataxia-oculomotor apraxia 3 | 615217 |
PIKFYVE | 161.3 | 0.99 | 0.97 | Corneal fleck dystrophy, | 121850 |
PIP5K1C | 122.3 | 0.96 | 0.94 | Lethal congenital contractural syndrome 3 | 611369 |
PKLR | 182.7 | 1 | 0.99 | Adenosine triphosphate, elevated, of erythrocytes, | 102900 |
PKLR | 182.7 | 1 | 0.99 | Pyruvate kinase deficiency, | 266200 |
PLA2G5 | 133.8 | 1 | 1 | [Fleck retina, familial benign], | 228980 |
PLA2G6 | 132.4 | 0.99 | 0.98 | Infantile neuroaxonal dystrophy 1 | 256600 |
PLA2G6 | 132.4 | 0.99 | 0.98 | Neurodegeneration with brain iron accumulation 2B, | 610217 |
PLA2G6 | 132.4 | 0.99 | 0.98 | Parkinson disease 14 autosomal recessive, | 612953 |
PLA2G7 | 137.2 | 0.99 | 0.97 | Platelet-activating factor acetylhydrolase deficiency, | 614278 |
PLA2G7 | 137.2 | 0.99 | 0.97 | {Asthma, susceptibility to}, | 600807 |
PLA2G7 | 137.2 | 0.99 | 0.97 | {Atopy, susceptibility to}, | 147050 |
PLCB1 | 177.3 | 0.99 | 0.99 | Epileptic encephalopathy, early infantile, 12 | 613722 |
PLCB4 | 147.9 | 0.99 | 0.95 | Auriculocondylar syndrome 2 | 614669 |
PLCD1 | 124.1 | 0.99 | 0.97 | Nail disorder, nonsyndromic congenital, 3 (leukonychia), | 151600 |
PLCE1 | 171.1 | 0.99 | 0.98 | Nephrotic syndrome, type 3 | 610725 |
PLCG2 | 133.6 | 1 | 0.99 | Autoinflammation, antibody deficiency, and immune dysregulation syndrome, | 614878 |
PLCG2 | 133.6 | 1 | 0.99 | Familial cold autoinflammatory syndrome 3 | 614468 |
PLIN1 | 92.4 | 0.97 | 0.89 | Lipodystrophy, familial partial, type 4 | 613877 |
PLOD1 | 149.8 | 1 | 0.99 | Ehlers-Danlos syndrome, type VI, | 225400 |
PLOD2 | 125.3 | 0.94 | 0.88 | Bruck syndrome 2 | 609220 |
PLOD3 | 125.3 | 0.99 | 0.98 | Lysyl hydroxylase 3 deficiency, | 612394 |
PMM2 | 178.4 | 0.99 | 0.99 | Congenital disorder of glycosylation, type Ia, | 212065 |
PNLIP | 197.8 | 1 | 0.98 | Pancreatic lipase deficiency, | 614338 |
PNMT | 96.9 | 0.98 | 0.96 | ?Hypertension, essential, | 145500 |
PNP | 148.5 | 1 | 0.99 | Immunodeficiency due to purine nucleoside phosphorylase deficiency, | 613179 |
PNPLA2 | 127.6 | 0.99 | 0.97 | Neutral lipid storage disease with myopathy, | 610717 |
PNPLA6 | 140.9 | 0.99 | 0.98 | Boucher-Neuhauser syndrome, | 215470 |
PNPLA6 | 140.9 | 0.99 | 0.98 | Oliver-McFarlane syndrome, | 275400 |
PNPLA6 | 140.9 | 0.99 | 0.98 | Spastic paraplegia 39 autosomal recessive, | 612020 |
PNPLA6 | 140.9 | 0.99 | 0.98 | ?Laurence-Moon syndrome, | 245800 |
PNPO | 84.2 | 1 | 0.99 | Pyridoxamine 5'-phosphate oxidase deficiency, | 610090 |
POLR3A | 162.2 | 1 | 0.99 | Leukodystrophy, hypomyelinating, 7 with or without oligodontia and/or hypogonadotropic | 610090 |
POLR3A | 162.2 | 1 | 0.99 | hypogonadism, | 607694 |
POLR3B | 168.9 | 0.99 | 0.98 | Leukodystrophy, hypomyelinating, 8 with or without oligodontia and/or hypogonadotropic | 607694 |
POLR3B | 168.9 | 0.99 | 0.98 | hypogonadism, | 614381 |
POMGNT1 | 131.9 | 0.99 | 0.97 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 | 253280 |
POMGNT1 | 131.9 | 0.99 | 0.97 | Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3 | 613151 |
POMGNT1 | 131.9 | 0.99 | 0.97 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 | 613157 |
POMGNT2 | 281.8 | 1 | 1 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 | 614830 |
POMK | 225.3 | 1 | 1 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 | 615249 |
POMK | 225.3 | 1 | 1 | ?Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12 | 616094 |
POMT1 | 181 | 0.99 | 0.97 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | 236670 |
POMT1 | 181 | 0.99 | 0.97 | Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 | 613155 |
POMT1 | 181 | 0.99 | 0.97 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 | 609308 |
POMT2 | 120.5 | 0.98 | 0.96 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 | 613150 |
POMT2 | 120.5 | 0.98 | 0.96 | Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 | 613156 |
POMT2 | 120.5 | 0.98 | 0.96 | Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 | 613158 |
PPM1K | 174.3 | 0.99 | 0.99 | ?Maple syrup urine disease, mild variant, | 615135 |
PPOX | 108.1 | 0.99 | 0.97 | Porphyria variegata, | 176200 |
PPT1 | 190.4 | 1 | 1 | Ceroid lipofuscinosis, neuronal, 1 | 256730 |
PRODH | 95.8 | 0.88 | 0.82 | Hyperprolinemia, type I, | 239500 |
PRODH | 95.8 | 0.88 | 0.82 | {Schizophrenia, susceptibility to, 4}, | 600850 |
PRPS1 | 201.5 | 1 | 1 | Arts syndrome, | 301835 |
PRPS1 | 201.5 | 1 | 1 | Charcot-Marie-Tooth disease, X-linked recessive, 5 | 311070 |
PRPS1 | 201.5 | 1 | 1 | Deafness, X-linked 1 | 304500 |
PRPS1 | 201.5 | 1 | 1 | Gout, PRPS-related, | 300661 |
PRPS1 | 201.5 | 1 | 1 | Phosphoribosylpyrophosphate synthetase superactivity, | 300661 |
PSAP | 126.7 | 0.99 | 0.98 | Combined SAP deficiency, | 611721 |
PSAP | 126.7 | 0.99 | 0.98 | Gaucher disease, atypical, | 610539 |
PSAP | 126.7 | 0.99 | 0.98 | Krabbe disease, atypical, | 611722 |
PSAP | 126.7 | 0.99 | 0.98 | Metachromatic leukodystrophy due to SAP-b deficiency, | 249900 |
PSAT1 | 49.5 | 0.9 | 0.74 | Neu-Laxova syndrome 2 | 616038 |
PSAT1 | 49.5 | 0.9 | 0.74 | ?Phosphoserine aminotransferase deficiency, | 610992 |
PSPH | 139.8 | 0.99 | 0.94 | Phosphoserine phosphatase deficiency, | 614023 |
PTEN | 152.4 | 0.99 | 0.98 | Bannayan-Riley-Ruvalcaba syndrome, | 153480 |
PTEN | 152.4 | 0.99 | 0.98 | Cowden syndrome 1 | 158350 |
PTEN | 152.4 | 0.99 | 0.98 | Endometrial carcinoma, somatic, | 608089 |
PTEN | 152.4 | 0.99 | 0.98 | Lhermitte-Duclos syndrome, | 158350 |
PTEN | 152.4 | 0.99 | 0.98 | Macrocephaly/autism syndrome, | 605309 |
PTEN | 152.4 | 0.99 | 0.98 | Malignant melanoma, somatic, | 155600 |
PTEN | 152.4 | 0.99 | 0.98 | PTEN hamartoma tumor syndrome | 155600 |
PTEN | 152.4 | 0.99 | 0.98 | Squamous cell carcinoma, head and neck, somatic, | 275355 |
PTEN | 152.4 | 0.99 | 0.98 | VATER association with macrocephaly and ventriculomegaly, | 276950 |
PTEN | 152.4 | 0.99 | 0.98 | {Glioma susceptibility 2}, | 613028 |
PTEN | 152.4 | 0.99 | 0.98 | {Meningioma}, | 607174 |
PTEN | 152.4 | 0.99 | 0.98 | {Prostate cancer, somatic}, | 176807 |
PTGIS | 140.1 | 0.98 | 0.95 | Hypertension, essential, | 145500 |
PTPN11 | 101.2 | 0.96 | 0.9 | LEOPARD syndrome 1 | 151100 |
PTPN11 | 101.2 | 0.96 | 0.9 | Leukemia, juvenile myelomonocytic, somatic, | 607785 |
PTPN11 | 101.2 | 0.96 | 0.9 | Metachondromatosis, | 156250 |
PTPN11 | 101.2 | 0.96 | 0.9 | Noonan syndrome 1 | 163950 |
PTS | 128.2 | 0.97 | 0.89 | Hyperphenylalaninemia, BH4-deficient, A, | 261640 |
PYCR1 | 105.4 | 0.99 | 0.94 | Cutis laxa, autosomal recessive, type IIB, | 612940 |
PYCR1 | 105.4 | 0.99 | 0.94 | Cutis laxa, autosomal recessive, type IIIB, | 614438 |
PYGL | 192.4 | 1 | 0.99 | Glycogen storage disease VI, | 232700 |
PYGM | 160.1 | 1 | 0.99 | McArdle disease, | 232600 |
QDPR | 88.5 | 1 | 0.99 | Hyperphenylalaninemia, BH4-deficient, C, | 261630 |
RDH12 | 101.9 | 0.98 | 0.91 | Leber congenital amaurosis 13 | 612712 |
RDH5 | 160.7 | 1 | 0.99 | Fundus albipunctatus, | 136880 |
RFT1 | 118.8 | 0.99 | 0.97 | Congenital disorder of glycosylation, type In, | 612015 |
RPE65 | 150.7 | 0.99 | 0.99 | Leber congenital amaurosis 2 | 204100 |
RPE65 | 150.7 | 0.99 | 0.99 | Retinitis pigmentosa 20 | 613794 |
RPIA | 138.1 | 0.94 | 0.91 | ?Ribose 5-phosphate isomerase deficiency, | 608611 |
SARDH | 132.5 | 0.92 | 0.91 | [Sarcosinemia], | 268900 |
SAT1 | 162.6 | 0.99 | 0.98 | No OMIM phenotype | 268900 |
SAT1 | 162.6 | 0.99 | 0.98 | Keratosis follicularis spinulosa decalvans (Gimelli -2002 Hum Genet 111,235) | 268900 |
SC5D | 227.6 | 0.99 | 0.98 | Lathosterolosis, | 607330 |
SCARB2 | 138.9 | 0.99 | 0.98 | Epilepsy, progressive myoclonic 4 with or without renal failure, | 254900 |
SCP2 | 124.8 | 0.99 | 0.96 | Leukoencephalopathy with dystonia and motor neuropathy, | 613724 |
SEPSECS | 185 | 0.99 | 0.99 | Pontocerebellar hypoplasia type 2D, | 613811 |
SERAC1 | 125.5 | 0.98 | 0.94 | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, | 614739 |
SGSH | 146.8 | 0.97 | 0.94 | Mucopolysaccharidisis type IIIA (Sanfilippo A), | 252900 |
SI | 110.4 | 0.96 | 0.9 | Sucrase-isomaltase deficiency, congenital, | 222900 |
SLC16A1 | 167.2 | 0.99 | 0.97 | Erythrocyte lactate transporter defect, | 245340 |
SLC16A1 | 167.2 | 0.99 | 0.97 | Hyperinsulinemic hypoglycemia, familial, 7 | 610021 |
SLC16A1 | 167.2 | 0.99 | 0.97 | Monocarboxylate transporter 1 deficiency, | 616095 |
SLC17A5 | 123.8 | 0.97 | 0.93 | Salla disease, | 604369 |
SLC17A5 | 123.8 | 0.97 | 0.93 | Sialic acid storage disorder, infantile, | 269920 |
SLC22A5 | 164.5 | 1 | 1 | Carnitine deficiency, systemic primary, | 212140 |
SLC25A1 | 84.7 | 0.97 | 0.9 | Combined D-2- and L-2-hydroxyglutaric aciduria, | 615182 |
SLC25A13 | 125.3 | 0.98 | 0.93 | Citrullinemia, adult-onset type II, | 603471 |
SLC25A13 | 125.3 | 0.98 | 0.93 | Citrullinemia, type II, neonatal-onset, | 605814 |
SLC25A15 | 228.7 | 0.98 | 0.95 | Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, | 238970 |
SLC25A19 | 81.4 | 0.99 | 0.95 | Microcephaly, Amish type, | 607196 |
SLC25A19 | 81.4 | 0.99 | 0.95 | Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), | 613710 |
SLC25A20 | 115.1 | 1 | 0.99 | Carnitine-acylcarnitine translocase deficiency, | 212138 |
SLC25A38 | 117.7 | 0.99 | 0.96 | Anemia, sideroblastic, 2 pyridoxine-refractory, | 205950 |
SLC2A1 | 183.5 | 1 | 1 | Dystonia 9 | 601042 |
SLC2A1 | 183.5 | 1 | 1 | GLUT1 deficiency syndrome 1 infantile onset, severe, | 606777 |
SLC2A1 | 183.5 | 1 | 1 | GLUT1 deficiency syndrome 2 childhood onset, | 612126 |
SLC2A1 | 183.5 | 1 | 1 | Stomatin-deficient cryohydrocytosis with neurologic defects, | 608885 |
SLC2A1 | 183.5 | 1 | 1 | {Epilepsy, idiopathic generalized, susceptibility to, 12}, | 614847 |
SLC2A2 | 189.5 | 1 | 0.99 | Fanconi-Bickel syndrome, | 227810 |
SLC2A2 | 189.5 | 1 | 0.99 | {Diabetes mellitus, noninsulin-dependent}, | 125853 |
SLC30A10 | 192.1 | 0.99 | 0.99 | Hypermanganesemia with dystonia 1 | 613280 |
SLC33A1 | 148.5 | 0.96 | 0.89 | Congenital cataracts, hearing loss, and neurodegeneration, | 614482 |
SLC33A1 | 148.5 | 0.96 | 0.89 | Spastic paraplegia 42 autosomal dominant, | 612539 |
SLC35A1 | 146 | 0.99 | 0.97 | Congenital disorder of glycosylation, type IIf, | 603585 |
SLC35C1 | 230 | 0.99 | 0.97 | Congenital disorder of glycosylation, type IIc, | 266265 |
SLC37A4 | 141 | 1 | 0.99 | Glycogen storage disease Ib, | 232220 |
SLC37A4 | 141 | 1 | 0.99 | Glycogen storage disease Ic, | 232240 |
SLC39A4 | 88.4 | 0.99 | 0.96 | Acrodermatitis enteropathica, | 201100 |
SLC3A1 | 192 | 0.99 | 0.98 | Cystinuria, | 220100 |
SLC46A1 | 105.4 | 0.98 | 0.94 | Folate malabsorption, hereditary, | 229050 |
SLC52A1 | 222.1 | 1 | 1 | Riboflavin deficiency, | 615026 |
SLC52A2 | 196.4 | 1 | 1 | Brown-Vialetto-Van Laere syndrome 2 | 614707 |
SLC52A3 | 124.5 | 1 | 0.99 | Brown-Vialetto-Van Laere syndrome 1 | 211530 |
SLC52A3 | 124.5 | 1 | 0.99 | Fazio-Londe disease, | 211500 |
SLC5A1 | 160.8 | 1 | 1 | Glucose/galactose malabsorption, | 606824 |
SLC5A2 | 136.3 | 1 | 0.99 | Renal glucosuria, | 233100 |
SLC6A8 | 61.1 | 0.92 | 0.82 | Cerebral creatine deficiency syndrome 1 | 300352 |
SLC7A7 | 127.2 | 1 | 1 | Lysinuric protein intolerance, | 222700 |
SLC7A9 | 152.6 | 1 | 0.98 | Cystinuria, | 220100 |
SLCO1B1 | 53.4 | 0.92 | 0.85 | Hyperbilirubinemia, Rotor type, digenic, | 237450 |
SLCO1B3 | 56.8 | 0.93 | 0.78 | Hyperbilirubinemia, Rotor type, digenic, | 237450 |
SMPD1 | 134.3 | 0.99 | 0.97 | Niemann-Pick disease, type A, | 257200 |
SMPD1 | 134.3 | 0.99 | 0.97 | Niemann-Pick disease, type B, | 607616 |
SMS | 70.1 | 0.88 | 0.76 | Mental retardation, X-linked, Snyder-Robinson type, | 309583 |
SOD1 | 179.7 | 1 | 0.99 | Amyotrophic lateral sclerosis 1 | 105400 |
SPR | 183.9 | 0.97 | 0.89 | Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, | 612716 |
SPTLC1 | 132.3 | 0.98 | 0.95 | Neuropathy, hereditary sensory and autonomic, type IA, | 162400 |
SPTLC2 | 178 | 1 | 0.99 | Neuropathy, hereditary sensory and autonomic, type IC, | 613640 |
SRD5A2 | 91.8 | 1 | 0.97 | Pseudovaginal perineoscrotal hypospadias, | 264600 |
SRD5A3 | 166.9 | 0.99 | 0.99 | Congenital disorder of glycosylation, type Iq, | 612379 |
SRD5A3 | 166.9 | 0.99 | 0.99 | Kahrizi syndrome, | 612713 |
ST3GAL3 | 193.7 | 1 | 1 | Epileptic encephalopathy, early infantile, 15 | 615006 |
ST3GAL3 | 193.7 | 1 | 1 | Mental retardation, autosomal recessive 12 | 611090 |
ST3GAL5 | 138.4 | 0.95 | 0.94 | Amish infantile epilepsy syndrome, | 609056 |
STAR | 134.5 | 0.99 | 0.99 | Lipoid adrenal hyperplasia, | 201710 |
STS | 111.8 | 0.99 | 0.96 | Ichthyosis, X-linked, | 308100 |
SUCLA2 | 69.4 | 0.92 | 0.82 | Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic | 308100 |
SUCLA2 | 69.4 | 0.92 | 0.82 | aciduria), | 612073 |
SUCLG1 | 111.3 | 0.99 | 0.97 | Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), | 612073 |
SUCLG1 | 111.3 | 0.99 | 0.97 | Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), | 245400 |
SUCLG2 | 65.9 | 0.91 | 0.79 | No OMIM phenotype | 245400 |
SUMF1 | 138.4 | 0.97 | 0.92 | Multiple sulfatase deficiency, | 272200 |
SUOX | 219.5 | 1 | 1 | Sulfite oxidase deficiency, | 272300 |
TALDO1 | 143.2 | 1 | 0.99 | Transaldolase deficiency, | 606003 |
TANGO2 | 161 | 1 | 0.99 | Metabolic encephalomyopathic crises,recurrent,with rhabdomyolysis,cardiac arrhythmias and | 606003 |
TANGO2 | 161 | 1 | 0.99 | neurodegeneration, | 616878 |
TAT | 141.9 | 1 | 1 | Tyrosinemia, type II, | 276600 |
TAZ | 126.3 | 1 | 0.98 | Barth syndrome, | 302060 |
TBXAS1 | 161.1 | 1 | 1 | Ghosal hematodiaphyseal syndrome, | 231095 |
TBXAS1 | 161.1 | 1 | 1 | ?Thromboxane synthase deficiency, | 614158 |
TCIRG1 | 125.6 | 0.95 | 0.88 | Osteopetrosis, autosomal recessive 1 | 259700 |
TCN2 | 192.4 | 1 | 1 | Transcobalamin II deficiency, | 275350 |
TECR | 96.4 | 0.99 | 0.97 | Mental retardation, autosomal recessive 14 | 614020 |
TH | 83.6 | 0.97 | 0.92 | Segawa syndrome, recessive, | 605407 |
TK2 | 109.9 | 0.92 | 0.87 | Mitochondrial DNA depletion syndrome 2 (myopathic type), | 609560 |
TMEM165 | 122.2 | 0.98 | 0.96 | Congenital disorder of glycosylation, type IIk, | 614727 |
TMEM5 | 140 | 0.93 | 0.9 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10 | 615041 |
TMLHE | 116.6 | 0.99 | 0.96 | {Autism,susceptibility to,X-linked 6}, | 300872 |
TPI1 | 109.8 | 0.98 | 0.96 | Hemolytic anemia due to triosephosphate isomerase deficiency, | 615512 |
TPMT | 49.3 | 0.92 | 0.8 | {Thiopurines,poor metabolism of,1}, | 610460 |
TPP1 | 158.7 | 1 | 1 | Ceroid lipofuscinosis, neuronal, 2 | 204500 |
TPP1 | 158.7 | 1 | 1 | Spinocerebellar ataxia, autosomal recessive 7 | 609270 |
TREH | 153.5 | 0.99 | 0.95 | Trehalase deficiency, | 612119 |
TUSC3 | 153.5 | 0.99 | 0.98 | Mental retardation, autosomal recessive 7 | 611093 |
TYMP | 96.7 | 0.96 | 0.88 | Mitochondrial DNA depletion syndrome 1 (MNGIE type), | 603041 |
TYR | 205.6 | 1 | 0.99 | Albinism, oculocutaneous, type IA, | 203100 |
TYR | 205.6 | 1 | 0.99 | Albinism, oculocutaneous, type IB, | 606952 |
TYR | 205.6 | 1 | 0.99 | Waardenburg syndrome/albinism, digenic, | 103470 |
TYR | 205.6 | 1 | 0.99 | [Skin/hair/eye pigmentation 3 blue/green eyes], | 601800 |
TYR | 205.6 | 1 | 0.99 | [Skin/hair/eye pigmentation 3 light/dark/freckling skin], | 601800 |
TYR | 205.6 | 1 | 0.99 | {Melanoma, cutaneous malignant, susceptibility to, 8}, | 601800 |
TYRP1 | 209.7 | 1 | 1 | Albinism, oculocutaneous, type III, | 203290 |
TYRP1 | 209.7 | 1 | 1 | [Skin/hair/eye pigmentation, variation in, 11 (Melanesian blond hair)], | 612271 |
UGT1A1 | 244.7 | 1 | 0.99 | Crigler-Najjar syndrome, type I, | 218800 |
UGT1A1 | 244.7 | 1 | 0.99 | Crigler-Najjar syndrome, type II, | 606785 |
UGT1A1 | 244.7 | 1 | 0.99 | Hyperbilirubinemia, familial transient neonatal, | 237900 |
UGT1A1 | 244.7 | 1 | 0.99 | [Bilirubin, serum level of, QTL1], | 601816 |
UGT1A1 | 244.7 | 1 | 0.99 | [Gilbert syndrome], | 143500 |
UMPS | 196.5 | 1 | 0.99 | Orotic aciduria, | 258900 |
UPB1 | 177.2 | 1 | 1 | Beta-ureidopropionase deficiency, | 613161 |
UROC1 | 150 | 1 | 0.99 | ?Urocanase deficiency, | 276880 |
UROD | 178.2 | 1 | 0.99 | Porphyria cutanea tarda, | 176100 |
UROD | 178.2 | 1 | 0.99 | Porphyria, hepatoerythropoietic, | 176100 |
UROS | 119.9 | 1 | 1 | Porphyria, congenital erythropoietic, | 263700 |
XDH | 119.9 | 1 | 0.99 | Xanthinuria, type I, | 278300 |