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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 |
|---|---|---|---|---|---|
| C0001815 | Primary Myelofibrosis | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0001815 | Primary Myelofibrosis | IL18R1 | 8809 | interleukin 18 receptor 1 | Q13478 |
| C0001815 | Primary Myelofibrosis | CEACAM6 | 4680 | CEA cell adhesion molecule 6 | P40199 |
| C0001815 | Primary Myelofibrosis | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0001815 | Primary Myelofibrosis | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0001815 | Primary Myelofibrosis | SOAT1 | 6646 | sterol O-acyltransferase 1 | P35610 |
| C0001787 | Osteoporosis, Age-Related | GPC6 | 10082 | glypican 6 | Q9Y625 |
| C0001787 | Osteoporosis, Age-Related | ENO1 | 2023 | enolase 1 | P06733 |
| C0001787 | Osteoporosis, Age-Related | PGLS | 25796 | 6-phosphogluconolactonase | O95336 |
| C0001787 | Osteoporosis, Age-Related | GAPDH | 2597 | glyceraldehyde-3-phosphate dehydrogenase | P04406 |
| C0001787 | Osteoporosis, Age-Related | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C0001787 | Osteoporosis, Age-Related | PKM | 5315 | pyruvate kinase M1/2 | P14618 |
| C0001787 | Osteoporosis, Age-Related | KL | 9365 | klotho | Q9UEF7 |
| C0001787 | Osteoporosis, Age-Related | MGLL | 11343 | monoglyceride lipase | Q99685 |
| C0001787 | Osteoporosis, Age-Related | ALPL | 249 | alkaline phosphatase, biomineralization associated | P05186 |
| C0001787 | Osteoporosis, Age-Related | GPX1 | 2876 | glutathione peroxidase 1 | P07203 |
| C0001787 | Osteoporosis, Age-Related | HSD11B1 | 3290 | hydroxysteroid 11-beta dehydrogenase 1 | P28845 |
| C0001787 | Osteoporosis, Age-Related | GPD2 | 2820 | glycerol-3-phosphate dehydrogenase 2 | P43304 |
| C0001787 | Osteoporosis, Age-Related | IDH2 | 3418 | isocitrate dehydrogenase (NADP(+)) 2 | P48735 |
| C0001787 | Osteoporosis, Age-Related | TPI1 | 7167 | triosephosphate isomerase 1 | P60174 |
| C0001787 | Osteoporosis, Age-Related | CYP19A1 | 1588 | cytochrome P450 family 19 subfamily A member 1 | P11511 |
| C0001787 | Osteoporosis, Age-Related | CYP24A1 | 1591 | cytochrome P450 family 24 subfamily A member 1 | Q07973 |
| C0001787 | Osteoporosis, Age-Related | OXCT1 | 5019 | 3-oxoacid CoA-transferase 1 | P55809 |
| C0001768 | Agammaglobulinemia | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| C0001733 | Afibrinogenemia | PC | 5091 | pyruvate carboxylase | P11498 |
