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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 |
|---|---|---|---|---|---|
| C1443892 | Chronic Q Fever | DHCR24 | 1718 | 24-dehydrocholesterol reductase | Q15392 |
| C1443892 | Chronic Q Fever | LSS | 4047 | lanosterol synthase | P48449 |
| C1442965 | Avascular necrosis of the capital femoral epiphysis | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C1442965 | Avascular necrosis of the capital femoral epiphysis | INPP5K | 51763 | inositol polyphosphate-5-phosphatase K | Q9BT40 |
| C1442965 | Avascular necrosis of the capital femoral epiphysis | SLC2A10 | 81031 | solute carrier family 2 member 10 | O95528 |
| C1442903 | Exostoses | B3GALT6 | 126792 | beta-1,3-galactosyltransferase 6 | Q96L58 |
| C1442903 | Exostoses | EXT2 | 2132 | exostosin glycosyltransferase 2 | Q93063 |
| C1442903 | Exostoses | EXT1 | 2131 | exostosin glycosyltransferase 1 | Q16394 |
| C1442903 | Exostoses | EXTL3 | 2137 | exostosin like glycosyltransferase 3 | O43909 |
| C1442903 | Exostoses | HPSE | 10855 | heparanase | Q9Y251 |
| C1442903 | Exostoses | IDH1 | 3417 | isocitrate dehydrogenase (NADP(+)) 1 | O75874 |
| C1442903 | Exostoses | DCN | 1634 | decorin | P07585 |
| C1442903 | Exostoses | ACAN | 176 | aggrecan | P16112 |
| C1442903 | Exostoses | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C1442903 | Exostoses | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
| C1442826 | Neonatal necrotizing enterocolitis | GM2A | 2760 | GM2 ganglioside activator | P17900 |
| C1415817 | HETEROTAXY, VISCERAL, 2, AUTOSOMAL | CFC1 | 55997 | cripto, FRL-1, cryptic family 1 | P0CG37 |
| C1412036 | Anal squamous cell carcinoma | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C1412036 | Anal squamous cell carcinoma | CEACAM5 | 1048 | CEA cell adhesion molecule 5 | P06731 |
| C1412036 | Anal squamous cell carcinoma | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| C1412036 | Anal squamous cell carcinoma | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C1412036 | Anal squamous cell carcinoma | CEACAM7 | 1087 | CEA cell adhesion molecule 7 | Q14002 |
| C1412036 | Anal squamous cell carcinoma | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C1412036 | Anal squamous cell carcinoma | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C1412036 | Anal squamous cell carcinoma | PTEN | 5728 | phosphatase and tensin homolog | P60484 |
