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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 |
|---|---|---|---|---|---|
| C0025517 | Metabolic Diseases | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0025517 | Metabolic Diseases | PLA2G4A | 5321 | phospholipase A2 group IVA | P47712 |
| C0025517 | Metabolic Diseases | TPI1 | 7167 | triosephosphate isomerase 1 | P60174 |
| C0025517 | Metabolic Diseases | SORD | 6652 | sorbitol dehydrogenase | Q00796 |
| C0025517 | Metabolic Diseases | AKR1D1 | 6718 | aldo-keto reductase family 1 member D1 | P51857 |
| C0025517 | Metabolic Diseases | TALDO1 | 6888 | transaldolase 1 | P37837 |
| C0025517 | Metabolic Diseases | MOGAT2 | 80168 | monoacylglycerol O-acyltransferase 2 | Q3SYC2 |
| C0025517 | Metabolic Diseases | AKR1C3 | 8644 | aldo-keto reductase family 1 member C3 | P42330 |
| C0025517 | Metabolic Diseases | CDH13 | 1012 | cadherin 13 | P55290 |
| C0025517 | Metabolic Diseases | COL9A2 | 1298 | collagen type IX alpha 2 chain | Q14055 |
| C0025517 | Metabolic Diseases | CYP1B1 | 1545 | cytochrome P450 family 1 subfamily B member 1 | Q16678 |
| C0025517 | Metabolic Diseases | CYP2C19 | 1557 | cytochrome P450 family 2 subfamily C member 19 | P33261 |
| C0025517 | Metabolic Diseases | CYP2B6 | 1555 | cytochrome P450 family 2 subfamily B member 6 | P20813 |
| C0025517 | Metabolic Diseases | CYP2C9 | 1559 | cytochrome P450 family 2 subfamily C member 9 | P11712 |
| C0025517 | Metabolic Diseases | CYP8B1 | 1582 | cytochrome P450 family 8 subfamily B member 1 | Q9UNU6 |
| C0025517 | Metabolic Diseases | CYP7A1 | 1581 | cytochrome P450 family 7 subfamily A member 1 | P22680 |
| C0025517 | Metabolic Diseases | CYP11B1 | 1584 | cytochrome P450 family 11 subfamily B member 1 | P15538 |
| C0025517 | Metabolic Diseases | CYP11B2 | 1585 | cytochrome P450 family 11 subfamily B member 2 | P19099 |
| C0025517 | Metabolic Diseases | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C0025517 | Metabolic Diseases | ECHS1 | 1892 | enoyl-CoA hydratase, short chain 1 | P30084 |
| C0025517 | Metabolic Diseases | AGXT | 189 | alanine--glyoxylate and serine--pyruvate aminotransferase | P21549 |
| C0025517 | Metabolic Diseases | ACSF3 | 197322 | acyl-CoA synthetase family member 3 | Q4G176 |
| C0025517 | Metabolic Diseases | FASN | 2194 | fatty acid synthase | P49327 |
| C0025517 | Metabolic Diseases | GAD2 | 2572 | glutamate decarboxylase 2 | Q05329 |
| C0025517 | Metabolic Diseases | GPX3 | 2878 | glutathione peroxidase 3 | P22352 |
