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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 |
|---|---|---|---|---|---|
| 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 |
| C0008312 | Primary biliary cirrhosis | LGALS3 | 3958 | galectin 3 | P17931 |
| C0008312 | Primary biliary cirrhosis | MBL2 | 4153 | mannose binding lectin 2 | P11226 |
| C0008312 | Primary biliary cirrhosis | ITLN1 | 55600 | intelectin 1 | Q8WWA0 |
| C0008312 | Primary biliary cirrhosis | CNTN5 | 53942 | contactin 5 | O94779 |
| C0008312 | Primary biliary cirrhosis | VCAM1 | 7412 | vascular cell adhesion molecule 1 | P19320 |
| C0008312 | Primary biliary cirrhosis | VTCN1 | 79679 | V-set domain containing T cell activation inhibitor 1 | Q7Z7D3 |
| C0008312 | Primary biliary cirrhosis | PDHX | 8050 | pyruvate dehydrogenase complex component X | O00330 |
| C0008312 | Primary biliary cirrhosis | PNPLA3 | 80339 | patatin like phospholipase domain containing 3 | Q9NST1 |
| C0008312 | Primary biliary cirrhosis | CD1D | 912 | CD1d molecule | P15813 |
| C0008312 | Primary biliary cirrhosis | CD14 | 929 | CD14 molecule | P08571 |
| C0008312 | Primary biliary cirrhosis | CD74 | 972 | CD74 molecule | P04233 |
| C0008312 | Primary biliary cirrhosis | DAG1 | 1605 | dystroglycan 1 | Q14118 |
| C0008312 | Primary biliary cirrhosis | OGDH | 4967 | oxoglutarate dehydrogenase | Q02218 |
| C0008312 | Primary biliary cirrhosis | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0008312 | Primary biliary cirrhosis | IL18R1 | 8809 | interleukin 18 receptor 1 | Q13478 |
| C0008312 | Primary biliary cirrhosis | CYP3A4 | 1576 | cytochrome P450 family 3 subfamily A member 4 | P08684 |
| C0008312 | Primary biliary cirrhosis | CYP7A1 | 1581 | cytochrome P450 family 7 subfamily A member 1 | P22680 |
| C0008312 | Primary biliary cirrhosis | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C0008312 | Primary biliary cirrhosis | DLST | 1743 | dihydrolipoamide S-succinyltransferase | P36957 |
