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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 |
|---|---|---|---|---|---|
| C0008412 | Choline Deficiency | MLYCD | 23417 | malonyl-CoA decarboxylase | O95822 |
| C0008412 | Choline Deficiency | PEMT | 10400 | phosphatidylethanolamine N-methyltransferase | Q9UBM1 |
| 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 |
| C0008384 | Cholesterol Ester Storage Disease | LIPA | 3988 | lipase A, lysosomal acid type | P38571 |
| C0008373 | Cholesteatoma | CLEC6A | 93978 | C-type lectin domain containing 6A | Q6EIG7 |
| C0008373 | Cholesteatoma | CLEC10A | 10462 | C-type lectin domain containing 10A | Q8IUN9 |
| C0008373 | Cholesteatoma | MGLL | 11343 | monoglyceride lipase | Q99685 |
| C0008373 | Cholesteatoma | CLEC5A | 23601 | C-type lectin domain containing 5A | Q9NY25 |
| C0008373 | Cholesteatoma | LY75 | 4065 | lymphocyte antigen 75 | O60449 |
| 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 |
| C2931067 | Cholestasis, progressive familial intrahepatic 4 | HSD3B7 | 80270 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | Q9H2F3 |
| C4551898 | Cholestasis, progressive familial intrahepatic 1 | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
