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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 |
|---|---|---|---|---|---|
| C0008325 | Cholecystitis | PNPLA2 | 57104 | patatin like phospholipase domain containing 2 | Q96AD5 |
| C0008325 | Cholecystitis | PKLR | 5313 | pyruvate kinase L/R | P30613 |
| C0008325 | Cholecystitis | TPI1 | 7167 | triosephosphate isomerase 1 | P60174 |
| C0008313 | Cholangitis, Sclerosing | FUT2 | 2524 | fucosyltransferase 2 | Q10981 |
| C0008313 | Cholangitis, Sclerosing | GAL3ST2 | 64090 | galactose-3-O-sulfotransferase 2 | Q9H3Q3 |
| C0008313 | Cholangitis, Sclerosing | MANBA | 4126 | mannosidase beta | O00462 |
| C0008313 | Cholangitis, Sclerosing | IL1R1 | 3554 | interleukin 1 receptor type 1 | P14778 |
| C0008313 | Cholangitis, Sclerosing | MGLL | 11343 | monoglyceride lipase | Q99685 |
| C0008313 | Cholangitis, Sclerosing | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C0008313 | Cholangitis, Sclerosing | STS | 412 | steroid sulfatase | P08842 |
| C0008313 | Cholangitis, Sclerosing | IL18R1 | 8809 | interleukin 18 receptor 1 | Q13478 |
| C0008313 | Cholangitis, Sclerosing | CLEC16A | 23274 | C-type lectin domain containing 16A | Q2KHT3 |
| C0008313 | Cholangitis, Sclerosing | INPP5A | 3632 | inositol polyphosphate-5-phosphatase A | Q14642 |
| 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 |
