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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 |
|---|---|---|---|---|---|
| C0206694 | Mucoepidermoid Carcinoma | PTGS1 | 5742 | prostaglandin-endoperoxide synthase 1 | P23219 |
| C0206694 | Mucoepidermoid Carcinoma | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C0206694 | Mucoepidermoid Carcinoma | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0206694 | Mucoepidermoid Carcinoma | ALDH3A1 | 218 | aldehyde dehydrogenase 3 family member A1 | P30838 |
| C0206694 | Mucoepidermoid Carcinoma | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0206694 | Mucoepidermoid Carcinoma | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0206694 | Mucoepidermoid Carcinoma | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0026697 | Mucolipidoses | DPAGT1 | 1798 | dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Q9H3H5 |
| C0026697 | Mucolipidoses | GLB1 | 2720 | galactosidase beta 1 | P16278 |
| C0026697 | Mucolipidoses | IDS | 3423 | iduronate 2-sulfatase | P22304 |
| C0026697 | Mucolipidoses | IDUA | 3425 | alpha-L-iduronidase | P35475 |
| C0026697 | Mucolipidoses | NEU1 | 4758 | neuraminidase 1 | Q99519 |
| C0026697 | Mucolipidoses | CTSA | 5476 | cathepsin A | P10619 |
| C0026697 | Mucolipidoses | GNPTAB | 79158 | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Q3T906 |
| C0026697 | Mucolipidoses | OGA | 10724 | O-GlcNAcase | O60502 |
| C0026697 | Mucolipidoses | CHIT1 | 1118 | chitinase 1 | Q13231 |
| C0026697 | Mucolipidoses | FUCA2 | 2519 | alpha-L-fucosidase 2 | Q9BTY2 |
| C0026697 | Mucolipidoses | HPRT1 | 3251 | hypoxanthine phosphoribosyltransferase 1 | P00492 |
| C0026697 | Mucolipidoses | NAGPA | 51172 | N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase | Q9UK23 |
| C0026697 | Mucolipidoses | GNPTG | 84572 | N-acetylglucosamine-1-phosphate transferase subunit gamma | Q9UJJ9 |
| C0026697 | Mucolipidoses | DHCR7 | 1717 | 7-dehydrocholesterol reductase | Q9UBM7 |
| C2673375 | Mucolipidosis III Alpha Beta, Atypical | GNPTAB | 79158 | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Q3T906 |
| C1854896 | Mucolipidosis III Gamma | GNPTAB | 79158 | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Q3T906 |
| C1854896 | Mucolipidosis III Gamma | GNPTG | 84572 | N-acetylglucosamine-1-phosphate transferase subunit gamma | Q9UJJ9 |
| C0238286 | Mucolipidosis Type IV | HEXA | 3073 | hexosaminidase subunit alpha | P06865 |
