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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 | 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 |
| C0008312 | Primary biliary cirrhosis | DGKQ | 1609 | diacylglycerol kinase theta | P52824 |
| C0008312 | Primary biliary cirrhosis | CLEC16A | 23274 | C-type lectin domain containing 16A | Q2KHT3 |
| C0008312 | Primary biliary cirrhosis | L1CAM | 3897 | L1 cell adhesion molecule | P32004 |
| C0008312 | Primary biliary cirrhosis | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0008312 | Primary biliary cirrhosis | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C0008312 | Primary biliary cirrhosis | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
| C1332582 | Primary bone lymphoma | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0280803 | Primary central nervous system lymphoma | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0280803 | Primary central nervous system lymphoma | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0280803 | Primary central nervous system lymphoma | CANX | 821 | calnexin | P27824 |
| C0280803 | Primary central nervous system lymphoma | MRC1 | 4360 | mannose receptor C-type 1 | P22897 |
| C0280803 | Primary central nervous system lymphoma | ISYNA1 | 51477 | inositol-3-phosphate synthase 1 | Q9NPH2 |
| 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 |
| C0240803 | Primary cerebral lymphoma | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C1335473 | Primary chondrosarcoma of bone | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
