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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 |
|---|---|---|---|---|---|
| C1569637 | Adenocarcinoma, Endometrioid | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C1569637 | Adenocarcinoma, Endometrioid | MSLN | 10232 | mesothelin | Q13421 |
| C1569637 | Adenocarcinoma, Endometrioid | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C1569637 | Adenocarcinoma, Endometrioid | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C1569637 | Adenocarcinoma, Endometrioid | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C1571983 | Involutional paraphrenia | GAD1 | 2571 | glutamate decarboxylase 1 | Q99259 |
| C1571983 | Involutional paraphrenia | CAT | 847 | catalase | P04040 |
| C1571983 | Involutional paraphrenia | GAD2 | 2572 | glutamate decarboxylase 2 | Q05329 |
| C1579029 | Chronic uremia | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C1609433 | Congenital absence of kidneys syndrome | HS6ST1 | 9394 | heparan sulfate 6-O-sulfotransferase 1 | O60243 |
| C1609433 | Congenital absence of kidneys syndrome | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
| C1609433 | Congenital absence of kidneys syndrome | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C1609433 | Congenital absence of kidneys syndrome | DHCR24 | 1718 | 24-dehydrocholesterol reductase | Q15392 |
| C1609433 | Congenital absence of kidneys syndrome | GAS1 | 2619 | growth arrest specific 1 | P54826 |
| C1609433 | Congenital absence of kidneys syndrome | NSDHL | 50814 | NAD(P) dependent steroid dehydrogenase-like | Q15738 |
| C1619700 | RENAL ADYSPLASIA | FREM1 | 158326 | FRAS1 related extracellular matrix 1 | Q5H8C1 |
| C1621920 | Intermediate Maple Syrup Urine Disease | DBT | 1629 | dihydrolipoamide branched chain transacylase E2 | P11182 |
| C1621920 | Intermediate Maple Syrup Urine Disease | BCKDHB | 594 | branched chain keto acid dehydrogenase E1 subunit beta | P21953 |
| C1621920 | Intermediate Maple Syrup Urine Disease | BCKDHA | 593 | branched chain keto acid dehydrogenase E1 subunit alpha | P12694 |
| C1621958 | Glioblastoma Multiforme | CHSY1 | 22856 | chondroitin sulfate synthase 1 | Q86X52 |
| C1621958 | Glioblastoma Multiforme | FUT4 | 2526 | fucosyltransferase 4 | P22083 |
| C1621958 | Glioblastoma Multiforme | B4GALNT1 | 2583 | beta-1,4-N-acetyl-galactosaminyltransferase 1 | Q00973 |
| C1621958 | Glioblastoma Multiforme | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C1621958 | Glioblastoma Multiforme | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C1621958 | Glioblastoma Multiforme | CHST15 | 51363 | carbohydrate sulfotransferase 15 | Q7LFX5 |
