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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 |
|---|---|---|---|---|---|
| C1306459 | Primary malignant neoplasm | DHRS11 | 79154 | dehydrogenase/reductase 11 | Q6UWP2 |
| C1306459 | Primary malignant neoplasm | TKTL2 | 84076 | transketolase like 2 | Q9H0I9 |
| C1306459 | Primary malignant neoplasm | PIP4K2B | 8396 | phosphatidylinositol-5-phosphate 4-kinase type 2 beta | P78356 |
| C1306459 | Primary malignant neoplasm | MTMR7 | 9108 | myotubularin related protein 7 | Q9Y216 |
| C1306459 | Primary malignant neoplasm | MTMR3 | 8897 | myotubularin related protein 3 | Q13615 |
| C1306459 | Primary malignant neoplasm | GFPT2 | 9945 | glutamine-fructose-6-phosphate transaminase 2 | O94808 |
| C1306459 | Primary malignant neoplasm | CYP4F2 | 8529 | cytochrome P450 family 4 subfamily F member 2 | P78329 |
| C1306459 | Primary malignant neoplasm | DGCR2 | 9993 | DiGeorge syndrome critical region gene 2 | P98153 |
| C1306459 | Primary malignant neoplasm | DGKD | 8527 | diacylglycerol kinase delta | Q16760 |
| C1306459 | Primary malignant neoplasm | ACYP2 | 98 | acylphosphatase 2 | P14621 |
| C1306459 | Primary malignant neoplasm | PCYT1B | 9468 | phosphate cytidylyltransferase 1, choline, beta | Q9Y5K3 |
| C1306341 | Mental handicap | GBA2 | 57704 | glucosylceramidase beta 2 | Q9HCG7 |
| C1306214 | ACTH-Secreting Pituitary Adenoma | GAPDH | 2597 | glyceraldehyde-3-phosphate dehydrogenase | P04406 |
| C1306214 | ACTH-Secreting Pituitary Adenoma | HSD11B1 | 3290 | hydroxysteroid 11-beta dehydrogenase 1 | P28845 |
| C1304508 | Spindle cell hemangioma | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C1304508 | Spindle cell hemangioma | ANXA5 | 308 | annexin A5 | P08758 |
| C1304508 | Spindle cell hemangioma | PTGS1 | 5742 | prostaglandin-endoperoxide synthase 1 | P23219 |
| C1304508 | Spindle cell hemangioma | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C1304508 | Spindle cell hemangioma | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C1304508 | Spindle cell hemangioma | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C1302547 | Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma | SLC35B2 | 347734 | solute carrier family 35 member B2 | Q8TB61 |
| C1302547 | Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma | FCER2 | 2208 | Fc fragment of IgE receptor II | P06734 |
| C1301937 | Talipes | CHST14 | 113189 | carbohydrate sulfotransferase 14 | Q8NCH0 |
| C1301937 | Talipes | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C1301937 | Talipes | EOGT | 285203 | EGF domain specific O-linked N-acetylglucosamine transferase | Q5NDL2 |
