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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 |
|---|---|---|---|---|---|
| C1961099 | Precursor T-Cell Lymphoblastic Leukemia-Lymphoma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C1961099 | Precursor T-Cell Lymphoblastic Leukemia-Lymphoma | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C1960469 | Left ventricular noncompaction | SDHD | 6392 | succinate dehydrogenase complex subunit D | O14521 |
| C1960469 | Left ventricular noncompaction | SLC39A8 | 64116 | solute carrier family 39 member 8 | Q9C0K1 |
| C1960469 | Left ventricular noncompaction | SDHA | 6389 | succinate dehydrogenase complex flavoprotein subunit A | P31040 |
| C1959632 | Plasma Cell Neoplasm | PIGA | 5277 | phosphatidylinositol glycan anchor biosynthesis class A | P37287 |
| C1959632 | Plasma Cell Neoplasm | CD38 | 952 | CD38 molecule | P28907 |
| C1959632 | Plasma Cell Neoplasm | LPL | 4023 | lipoprotein lipase | P06858 |
| C1959632 | Plasma Cell Neoplasm | NCAM1 | 4684 | neural cell adhesion molecule 1 | P13591 |
| C1959632 | Plasma Cell Neoplasm | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C1959626 | Mevalonic Aciduria | FDFT1 | 2222 | farnesyl-diphosphate farnesyltransferase 1 | P37268 |
| C1959588 | Angioma | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C1959588 | Angioma | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C1959588 | Angioma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C1959584 | Cardiac Carcinoma | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C1959584 | Cardiac Carcinoma | CYP1A2 | 1544 | cytochrome P450 family 1 subfamily A member 2 | P05177 |
| C1959583 | Myocardial Failure | CS | 1431 | citrate synthase | O75390 |
| C1959583 | Myocardial Failure | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C1959583 | Myocardial Failure | PTGS1 | 5742 | prostaglandin-endoperoxide synthase 1 | P23219 |
| C1959583 | Myocardial Failure | SCD | 6319 | stearoyl-CoA desaturase | O00767 |
| C1959583 | Myocardial Failure | ELOVL6 | 79071 | ELOVL fatty acid elongase 6 | Q9H5J4 |
| C1959583 | Myocardial Failure | CAT | 847 | catalase | P04040 |
| C1959583 | Myocardial Failure | PCK1 | 5105 | phosphoenolpyruvate carboxykinase 1 | P35558 |
| C1959583 | Myocardial Failure | EPHX2 | 2053 | epoxide hydrolase 2 | P34913 |
| C1959583 | Myocardial Failure | FASN | 2194 | fatty acid synthase | P49327 |
