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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 |
|---|---|---|---|---|---|
| C0162534 | Prion Diseases | PRNP | 5621 | prion protein | P04156 |
| C0162534 | Prion Diseases | CD14 | 929 | CD14 molecule | P08571 |
| C0162534 | Prion Diseases | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C0162534 | Prion Diseases | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | P42336 |
| C0162534 | Prion Diseases | BST1 | 683 | bone marrow stromal cell antigen 1 | Q10588 |
| C0162534 | Prion Diseases | PDIA3 | 2923 | protein disulfide isomerase family A member 3 | P30101 |
| C0162534 | Prion Diseases | PIK3CB | 5291 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | P42338 |
| C0162534 | Prion Diseases | PIK3CG | 5294 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | P48736 |
| C0162534 | Prion Diseases | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C0162534 | Prion Diseases | PRNP | 5621 | prion protein | F7VJQ1 |
| C0162534 | Prion Diseases | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0033246 | Proctitis | CALR | 811 | calreticulin | P27797 |
| C0033300 | Progeria | APRT | 353 | adenine phosphoribosyltransferase | P07741 |
| C0033300 | Progeria | SIRT6 | 51548 | sirtuin 6 | Q8N6T7 |
| C0033300 | Progeria | KL | 9365 | klotho | Q9UEF7 |
| C0033300 | Progeria | PLB1 | 151056 | phospholipase B1 | Q6P1J6 |
| C0033300 | Progeria | CD55 | 1604 | CD55 molecule (Cromer blood group) | P08174 |
| C0033300 | Progeria | ACAN | 176 | aggrecan | P16112 |
| C0033300 | Progeria | FDPS | 2224 | farnesyl diphosphate synthase | P14324 |
| C0033300 | Progeria | ALPL | 249 | alkaline phosphatase, biomineralization associated | P05186 |
| C0033300 | Progeria | GGT1 | 2678 | gamma-glutamyltransferase 1 | P19440 |
| C0033300 | Progeria | PLA2R1 | 22925 | phospholipase A2 receptor 1 | Q13018 |
| C0033300 | Progeria | PRKAA2 | 5563 | protein kinase AMP-activated catalytic subunit alpha 2 | P54646 |
| C0033300 | Progeria | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0030442 | Progressive bulbar palsy | SLC35A1 | 10559 | solute carrier family 35 member A1 | P78382 |
