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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 |
|---|---|---|---|---|---|
| C0008373 | Cholesteatoma | STS | 412 | steroid sulfatase | P08842 |
| C0008373 | Cholesteatoma | MRC1 | 4360 | mannose receptor C-type 1 | P22897 |
| C0008373 | Cholesteatoma | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0008373 | Cholesteatoma | PSMD10 | 5716 | proteasome 26S subunit, non-ATPase 10 | O75832 |
| C0008373 | Cholesteatoma | CLEC7A | 64581 | C-type lectin domain containing 7A | Q9BXN2 |
| C0008373 | Cholesteatoma | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0008373 | Cholesteatoma | CLEC12B | 387837 | C-type lectin domain family 12 member B | Q2HXU8 |
| C0008373 | Cholesteatoma | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0008373 | Cholesteatoma | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0008373 | Cholesteatoma | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0008384 | Cholesterol Ester Storage Disease | LIPA | 3988 | lipase A, lysosomal acid type | P38571 |
| C0342883 | Cholesteryl Ester Transfer Protein Deficiency | GALNT2 | 2590 | polypeptide N-acetylgalactosaminyltransferase 2 | Q10471 |
| C0342883 | Cholesteryl Ester Transfer Protein Deficiency | LCAT | 3931 | lecithin-cholesterol acyltransferase | P04180 |
| C0342883 | Cholesteryl Ester Transfer Protein Deficiency | LIPC | 3990 | lipase C, hepatic type | P11150 |
| C0342883 | Cholesteryl Ester Transfer Protein Deficiency | LPL | 4023 | lipoprotein lipase | P06858 |
| C0342883 | Cholesteryl Ester Transfer Protein Deficiency | LIPG | 9388 | lipase G, endothelial type | Q9Y5X9 |
| C0008412 | Choline Deficiency | MLYCD | 23417 | malonyl-CoA decarboxylase | O95822 |
| C0008412 | Choline Deficiency | PEMT | 10400 | phosphatidylethanolamine N-methyltransferase | Q9UBM1 |
| C0152230 | Cholinergic urticaria | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C0152230 | Cholinergic urticaria | CLEC10A | 10462 | C-type lectin domain containing 10A | Q8IUN9 |
| C0152230 | Cholinergic urticaria | MGLL | 11343 | monoglyceride lipase | Q99685 |
| C0279603 | Chondroblastic osteosarcoma | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0008441 | Chondroblastoma | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0008441 | Chondroblastoma | ACAN | 176 | aggrecan | P16112 |
| C0008441 | Chondroblastoma | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
