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DisGeNET
DisGeNET is a knowledge management platform that integrates and standardizes the data of genes and mutations related to diseases from multiple sources. It covers entire range of human disease.
| Source | Last Updated |
|---|---|
| DisGeNET | July 29, 2024 |
| Disease ID ▲ | Disease Name | Gene Symbol | Gene ID | Gene Name | UniProt ID |
|---|---|---|---|---|---|
| C1855565 | Pyruvate Dehydrogenase E2 Deficiency | DLAT | 1737 | dihydrolipoamide S-acetyltransferase | P10515 |
| C1855681 | Nephronophthisis, familial juvenile | MLYCD | 23417 | malonyl-CoA decarboxylase | O95822 |
| C1855739 | Indifference to Pain, Congenital, Autosomal Recessive | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C1855739 | Indifference to Pain, Congenital, Autosomal Recessive | CAT | 847 | catalase | P04040 |
| C1855789 | Self-Healing Collodion Baby | ALOX12B | 242 | arachidonate 12-lipoxygenase, 12R type | O75342 |
| C1855995 | L-2-HYDROXYGLUTARIC ACIDURIA | L2HGDH | 79944 | L-2-hydroxyglutarate dehydrogenase | Q9H9P8 |
| C1856058 | HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY | CYP7A1 | 1581 | cytochrome P450 family 7 subfamily A member 1 | P22680 |
| C1856113 | Mowat-Wilson syndrome | ARSD | 414 | arylsulfatase D | P51689 |
| C1856127 | Bile acid synthesis defect, congenital, 2 | AKR1D1 | 6718 | aldo-keto reductase family 1 member D1 | P51857 |
| C1856251 | Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C1856251 | Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I | SLC35A2 | 7355 | solute carrier family 35 member A2 | P78381 |
| C1856301 | GSD IV, Classic Hepatic | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C1856303 | GSD IV, Neuromuscular Form, Fatal Perinatal | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C1856304 | GSD IV, Neuromuscular Form, Congenital | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C1856305 | GSD IV, Neuromuscular Form, Childhood | GBE1 | 2632 | 1,4-alpha-glucan branching enzyme 1 | Q04446 |
| C1856439 | GLAUCOMA 3, PRIMARY CONGENITAL, A | CYP1B1 | 1545 | cytochrome P450 family 1 subfamily B member 1 | Q16678 |
| C1856689 | FRIEDREICH ATAXIA 1 | GPAA1 | 8733 | glycosylphosphatidylinositol anchor attachment 1 | O43292 |
| C1856689 | FRIEDREICH ATAXIA 1 | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C1856689 | FRIEDREICH ATAXIA 1 | ACO2 | 50 | aconitase 2 | Q99798 |
| C1856689 | FRIEDREICH ATAXIA 1 | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C1856689 | FRIEDREICH ATAXIA 1 | GPX1 | 2876 | glutathione peroxidase 1 | P07203 |
| C1856689 | FRIEDREICH ATAXIA 1 | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C1856689 | FRIEDREICH ATAXIA 1 | LPL | 4023 | lipoprotein lipase | P06858 |
| C1856689 | FRIEDREICH ATAXIA 1 | VCAM1 | 7412 | vascular cell adhesion molecule 1 | P19320 |
| C1856689 | FRIEDREICH ATAXIA 1 | PIP5K1B | 8395 | phosphatidylinositol-4-phosphate 5-kinase type 1 beta | O14986 |
