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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 |
|---|---|---|---|---|---|
| C0023827 | liposarcoma | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0023827 | liposarcoma | NANS | 54187 | N-acetylneuraminate synthase | Q9NR45 |
| C0023827 | liposarcoma | SDC1 | 6382 | syndecan 1 | P18827 |
| C0023827 | liposarcoma | CD38 | 952 | CD38 molecule | P28907 |
| C0023827 | liposarcoma | CPM | 1368 | carboxypeptidase M | P14384 |
| C0023827 | liposarcoma | STS | 412 | steroid sulfatase | P08842 |
| C0023827 | liposarcoma | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C0023827 | liposarcoma | PNPLA2 | 57104 | patatin like phospholipase domain containing 2 | Q96AD5 |
| C0023827 | liposarcoma | PNPLA3 | 80339 | patatin like phospholipase domain containing 3 | Q9NST1 |
| C0023827 | liposarcoma | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0023827 | liposarcoma | GPNMB | 10457 | glycoprotein nmb | Q14956 |
| C0023827 | liposarcoma | FASN | 2194 | fatty acid synthase | P49327 |
| C0023827 | liposarcoma | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0023827 | liposarcoma | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0023827 | liposarcoma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C0023817 | Hyperlipoproteinemia Type I | GPIHBP1 | 338328 | glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 | Q8IV16 |
| C0023817 | Hyperlipoproteinemia Type I | LCAT | 3931 | lecithin-cholesterol acyltransferase | P04180 |
| C0023817 | Hyperlipoproteinemia Type I | LPL | 4023 | lipoprotein lipase | P06858 |
| C0023817 | Hyperlipoproteinemia Type I | PNPLA2 | 57104 | patatin like phospholipase domain containing 2 | Q96AD5 |
| C0023817 | Hyperlipoproteinemia Type I | DGAT1 | 8694 | diacylglycerol O-acyltransferase 1 | O75907 |
| C0023817 | Hyperlipoproteinemia Type I | AMT | 275 | aminomethyltransferase | P48728 |
| C0023806 | Lipomucopolysaccharidosis | NEU1 | 4758 | neuraminidase 1 | Q99519 |
| C0023806 | Lipomucopolysaccharidosis | CYP21A2 | 1589 | cytochrome P450 family 21 subfamily A member 2 | P08686 |
| C0023804 | Lipomatosis, Multiple Symmetrical | CEL | 1056 | carboxyl ester lipase | P19835 |
| C0023804 | Lipomatosis, Multiple Symmetrical | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
