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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 |
|---|---|---|---|---|---|
| C0376545 | Hematologic Neoplasms | PCYT1A | 5130 | phosphate cytidylyltransferase 1, choline, alpha | P49585 |
| C0376545 | Hematologic Neoplasms | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0376545 | Hematologic Neoplasms | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0376545 | Hematologic Neoplasms | PIP4K2A | 5305 | phosphatidylinositol-5-phosphate 4-kinase type 2 alpha | P48426 |
| C0376545 | Hematologic Neoplasms | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C0376545 | Hematologic Neoplasms | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0376545 | Hematologic Neoplasms | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0376545 | Hematologic Neoplasms | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C0376670 | Pancreatitis, Alcoholic | AKR1A1 | 10327 | aldo-keto reductase family 1 member A1 | P14550 |
| C0376670 | Pancreatitis, Alcoholic | UGT1A7 | 54577 | UDP glucuronosyltransferase family 1 member A7 | Q9HAW7 |
| C0376670 | Pancreatitis, Alcoholic | CEL | 1056 | carboxyl ester lipase | P19835 |
| C0376670 | Pancreatitis, Alcoholic | ADH1B | 125 | alcohol dehydrogenase 1B (class I), beta polypeptide | P00325 |
| C0376670 | Pancreatitis, Alcoholic | ADH1C | 126 | alcohol dehydrogenase 1C (class I), gamma polypeptide | P00326 |
| C0376670 | Pancreatitis, Alcoholic | ADH4 | 127 | alcohol dehydrogenase 4 (class II), pi polypeptide | P08319 |
| C0376670 | Pancreatitis, Alcoholic | ALDH2 | 217 | aldehyde dehydrogenase 2 family member | P05091 |
| C0376670 | Pancreatitis, Alcoholic | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C0376670 | Pancreatitis, Alcoholic | LPL | 4023 | lipoprotein lipase | P06858 |
| C0376670 | Pancreatitis, Alcoholic | CD14 | 929 | CD14 molecule | P08571 |
| C0376670 | Pancreatitis, Alcoholic | CYP2E1 | 1571 | cytochrome P450 family 2 subfamily E member 1 | P05181 |
| C0391826 | Lhermitte-Duclos disease | CHST3 | 9469 | carbohydrate sulfotransferase 3 | Q7LGC8 |
| C0391826 | Lhermitte-Duclos disease | IL18RAP | 8807 | interleukin 18 receptor accessory protein | O95256 |
| C0391826 | Lhermitte-Duclos disease | ACAN | 176 | aggrecan | P16112 |
| C0391826 | Lhermitte-Duclos disease | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0391826 | Lhermitte-Duclos disease | COL9A2 | 1298 | collagen type IX alpha 2 chain | Q14055 |
| C0391826 | Lhermitte-Duclos disease | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
