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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 |
|---|---|---|---|---|---|
| C0004135 | Ataxia Telangiectasia | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0004135 | Ataxia Telangiectasia | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0004135 | Ataxia Telangiectasia | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C0004114 | Astrocytoma | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C0004114 | Astrocytoma | FKTN | 2218 | fukutin | O75072 |
| C0004114 | Astrocytoma | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C0004114 | Astrocytoma | CHST15 | 51363 | carbohydrate sulfotransferase 15 | Q7LFX5 |
| C0004114 | Astrocytoma | HAS2 | 3037 | hyaluronan synthase 2 | Q92819 |
| C0004114 | Astrocytoma | XYLT1 | 64131 | xylosyltransferase 1 | Q86Y38 |
| C0004114 | Astrocytoma | ST8SIA4 | 7903 | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 | Q92187 |
| C0004114 | Astrocytoma | ST8SIA2 | 8128 | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 | Q92186 |
| C0004114 | Astrocytoma | NEU1 | 4758 | neuraminidase 1 | Q99519 |
| C0004114 | Astrocytoma | AKR1A1 | 10327 | aldo-keto reductase family 1 member A1 | P14550 |
| C0004114 | Astrocytoma | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C0004114 | Astrocytoma | PARP1 | 142 | poly(ADP-ribose) polymerase 1 | P09874 |
| C0004114 | Astrocytoma | CS | 1431 | citrate synthase | O75390 |
| C0004114 | Astrocytoma | AKR1B1 | 231 | aldo-keto reductase family 1 member B | P15121 |
| C0004114 | Astrocytoma | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C0004114 | Astrocytoma | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0004114 | Astrocytoma | LGALS4 | 3960 | galectin 4 | P56470 |
| C0004114 | Astrocytoma | ENPP1 | 5167 | ectonucleotide pyrophosphatase/phosphodiesterase 1 | P22413 |
| C0004114 | Astrocytoma | PGAM1 | 5223 | phosphoglycerate mutase 1 | P18669 |
| C0004114 | Astrocytoma | PGK1 | 5230 | phosphoglycerate kinase 1 | P00558 |
| C0004114 | Astrocytoma | CALR | 811 | calreticulin | P27797 |
| C0004114 | Astrocytoma | TNKS | 8658 | tankyrase | O95271 |
