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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 |
|---|---|---|---|---|---|
| C0280803 | Primary central nervous system lymphoma | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0280803 | Primary central nervous system lymphoma | RTN4R | 65078 | reticulon 4 receptor | Q9BZR6 |
| C0280803 | Primary central nervous system lymphoma | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0280803 | Primary central nervous system lymphoma | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0280803 | Primary central nervous system lymphoma | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0280803 | Primary central nervous system lymphoma | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C1332582 | Primary bone lymphoma | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0008312 | Primary biliary cirrhosis | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0008312 | Primary biliary cirrhosis | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C0008312 | Primary biliary cirrhosis | POGLUT1 | 56983 | protein O-glucosyltransferase 1 | Q8NBL1 |
| C0008312 | Primary biliary cirrhosis | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0008312 | Primary biliary cirrhosis | MANBA | 4126 | mannosidase beta | O00462 |
| C0008312 | Primary biliary cirrhosis | COG6 | 57511 | component of oligomeric golgi complex 6 | Q9Y2V7 |
| C0008312 | Primary biliary cirrhosis | DLAT | 1737 | dihydrolipoamide S-acetyltransferase | P10515 |
| C0008312 | Primary biliary cirrhosis | HK1 | 3098 | hexokinase 1 | P19367 |
| C0008312 | Primary biliary cirrhosis | UGT2B4 | 7363 | UDP glucuronosyltransferase family 2 member B4 | P06133 |
| C0008312 | Primary biliary cirrhosis | DBT | 1629 | dihydrolipoamide branched chain transacylase E2 | P11182 |
| C0008312 | Primary biliary cirrhosis | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0008312 | Primary biliary cirrhosis | FH | 2271 | fumarate hydratase | P07954 |
| C0008312 | Primary biliary cirrhosis | PLCB1 | 23236 | phospholipase C beta 1 | Q9NQ66 |
| C0008312 | Primary biliary cirrhosis | ALPP | 250 | alkaline phosphatase, placental | P05187 |
| C0008312 | Primary biliary cirrhosis | ATRNL1 | 26033 | attractin like 1 | Q5VV63 |
| C0008312 | Primary biliary cirrhosis | GGT1 | 2678 | gamma-glutamyltransferase 1 | P19440 |
| C0008312 | Primary biliary cirrhosis | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C0008312 | Primary biliary cirrhosis | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
