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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 |
|---|---|---|---|---|---|
| C0342788 | Renal carnitine transport defect | SFTPD | 6441 | surfactant protein D | P35247 |
| C0342788 | Renal carnitine transport defect | SCD5 | 79966 | stearoyl-CoA desaturase 5 | Q86SK9 |
| C0342788 | Renal carnitine transport defect | CPT1A | 1374 | carnitine palmitoyltransferase 1A | P50416 |
| C1378703 | Renal carcinoma | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C1378703 | Renal carcinoma | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C1378703 | Renal carcinoma | G6PD | 2539 | glucose-6-phosphate dehydrogenase | P11413 |
| C1378703 | Renal carcinoma | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C1378703 | Renal carcinoma | LDHA | 3939 | lactate dehydrogenase A | P00338 |
| C1378703 | Renal carcinoma | ACO2 | 50 | aconitase 2 | Q99798 |
| C1378703 | Renal carcinoma | PKM | 5315 | pyruvate kinase M1/2 | P14618 |
| C1378703 | Renal carcinoma | UGT2B7 | 7364 | UDP glucuronosyltransferase family 2 member B7 | P16662 |
| C1378703 | Renal carcinoma | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C1378703 | Renal carcinoma | VCAN | 1462 | versican | P13611 |
| C1378703 | Renal carcinoma | CYP17A1 | 1586 | cytochrome P450 family 17 subfamily A member 1 | P05093 |
| C1378703 | Renal carcinoma | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C1378703 | Renal carcinoma | DLD | 1738 | dihydrolipoamide dehydrogenase | P09622 |
| C1378703 | Renal carcinoma | FH | 2271 | fumarate hydratase | P07954 |
| C1378703 | Renal carcinoma | GPX1 | 2876 | glutathione peroxidase 1 | P07203 |
| C1378703 | Renal carcinoma | ANXA5 | 308 | annexin A5 | P08758 |
| C1378703 | Renal carcinoma | ICAM1 | 3383 | intercellular adhesion molecule 1 | P05362 |
| C1378703 | Renal carcinoma | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C1378703 | Renal carcinoma | PRNP | 5621 | prion protein | P04156 |
| C1378703 | Renal carcinoma | SDHB | 6390 | succinate dehydrogenase complex iron sulfur subunit B | P21912 |
| C1378703 | Renal carcinoma | SDHC | 6391 | succinate dehydrogenase complex subunit C | Q99643 |
| C1378703 | Renal carcinoma | SDHD | 6392 | succinate dehydrogenase complex subunit D | O14521 |
