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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 |
|---|---|---|---|---|---|
| C0751396 | Well Differentiated Oligodendroglioma | SULT1E1 | 6783 | sulfotransferase family 1E member 1 | P49888 |
| C0751396 | Well Differentiated Oligodendroglioma | CNTN2 | 6900 | contactin 2 | Q02246 |
| C0751398 | Familial Olivopontocerebellar Atrophy | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0751401 | Ophthalmoparesis | GFPT1 | 2673 | glutamine--fructose-6-phosphate transaminase 1 | Q06210 |
| C0751401 | Ophthalmoparesis | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0751401 | Ophthalmoparesis | AGRN | 375790 | agrin | O00468 |
| C0751401 | Ophthalmoparesis | MTM1 | 4534 | myotubularin 1 | Q13496 |
| C0751406 | Post-Traumatic Osteoporosis | GPC6 | 10082 | glypican 6 | Q9Y625 |
| C0751406 | Post-Traumatic Osteoporosis | ENO1 | 2023 | enolase 1 | P06733 |
| C0751406 | Post-Traumatic Osteoporosis | PGLS | 25796 | 6-phosphogluconolactonase | O95336 |
| C0751406 | Post-Traumatic Osteoporosis | GAPDH | 2597 | glyceraldehyde-3-phosphate dehydrogenase | P04406 |
| C0751406 | Post-Traumatic Osteoporosis | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C0751406 | Post-Traumatic Osteoporosis | PKM | 5315 | pyruvate kinase M1/2 | P14618 |
| C0751406 | Post-Traumatic Osteoporosis | KL | 9365 | klotho | Q9UEF7 |
| C0751406 | Post-Traumatic Osteoporosis | MGLL | 11343 | monoglyceride lipase | Q99685 |
| C0751406 | Post-Traumatic Osteoporosis | GPX1 | 2876 | glutathione peroxidase 1 | P07203 |
| C0751406 | Post-Traumatic Osteoporosis | GPD2 | 2820 | glycerol-3-phosphate dehydrogenase 2 | P43304 |
| C0751406 | Post-Traumatic Osteoporosis | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C0751406 | Post-Traumatic Osteoporosis | TPI1 | 7167 | triosephosphate isomerase 1 | P60174 |
| C0751406 | Post-Traumatic Osteoporosis | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C0751406 | Post-Traumatic Osteoporosis | CYP24A1 | 1591 | cytochrome P450 family 24 subfamily A member 1 | Q07973 |
| C0751406 | Post-Traumatic Osteoporosis | OXCT1 | 5019 | 3-oxoacid CoA-transferase 1 | P55809 |
| C0751434 | Classical phenylketonuria | CAT | 847 | catalase | P04040 |
| C0751434 | Classical phenylketonuria | GPX3 | 2878 | glutathione peroxidase 3 | P22352 |
| C0751434 | Classical phenylketonuria | OXCT1 | 5019 | 3-oxoacid CoA-transferase 1 | P55809 |
