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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 |
|---|---|---|---|---|---|
| C0549473 | Thyroid carcinoma | TKTL1 | 8277 | transketolase like 1 | P51854 |
| C0549463 | X-Linked Lymphoproliferative Disorder | FUT1 | 2523 | fucosyltransferase 1 (H blood group) | P19526 |
| C0549463 | X-Linked Lymphoproliferative Disorder | HPRT1 | 3251 | hypoxanthine phosphoribosyltransferase 1 | P00492 |
| C0549463 | X-Linked Lymphoproliferative Disorder | HPGDS | 27306 | hematopoietic prostaglandin D synthase | O60760 |
| C0549463 | X-Linked Lymphoproliferative Disorder | PLCG1 | 5335 | phospholipase C gamma 1 | P19174 |
| C0549463 | X-Linked Lymphoproliferative Disorder | CD1D | 912 | CD1d molecule | P15813 |
| C0549423 | Obstructive Hydrocephalus | CRPPA | 729920 | CDP-L-ribitol pyrophosphorylase A | A4D126 |
| C0547065 | Mixed oligoastrocytoma | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0547065 | Mixed oligoastrocytoma | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C0546953 | Subacromial bursitis | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0546837 | Malignant neoplasm of esophagus | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C0546837 | Malignant neoplasm of esophagus | ABO | 28 | ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase | P16442 |
| C0546837 | Malignant neoplasm of esophagus | CHST15 | 51363 | carbohydrate sulfotransferase 15 | Q7LFX5 |
| C0546837 | Malignant neoplasm of esophagus | C1GALT1 | 56913 | core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 | Q9NS00 |
| C0546837 | Malignant neoplasm of esophagus | ST8SIA4 | 7903 | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 | Q92187 |
| C0546837 | Malignant neoplasm of esophagus | ARSA | 410 | arylsulfatase A | P15289 |
| C0546837 | Malignant neoplasm of esophagus | TUSC3 | 7991 | tumor suppressor candidate 3 | Q13454 |
| C0546837 | Malignant neoplasm of esophagus | PLOD3 | 8985 | procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 | O60568 |
| C0546837 | Malignant neoplasm of esophagus | COG8 | 84342 | component of oligomeric golgi complex 8 | Q96MW5 |
| C0546837 | Malignant neoplasm of esophagus | PARP2 | 10038 | poly(ADP-ribose) polymerase 2 | Q9UGN5 |
| C0546837 | Malignant neoplasm of esophagus | AKR1A1 | 10327 | aldo-keto reductase family 1 member A1 | P14550 |
| C0546837 | Malignant neoplasm of esophagus | HPSE | 10855 | heparanase | Q9Y251 |
| C0546837 | Malignant neoplasm of esophagus | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0546837 | Malignant neoplasm of esophagus | ENO1 | 2023 | enolase 1 | P06733 |
| C0546837 | Malignant neoplasm of esophagus | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
