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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 |
|---|---|---|---|---|---|
| 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 |
| C0033246 | Proctitis | CALR | 811 | calreticulin | P27797 |
| C0162534 | Prion Diseases | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C0162534 | Prion Diseases | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C0162534 | Prion Diseases | GPI | 2821 | glucose-6-phosphate isomerase | P06744 |
| C0162534 | Prion Diseases | OGG1 | 4968 | 8-oxoguanine DNA glycosylase | O15527 |
| C0162534 | Prion Diseases | LGALS1 | 3956 | galectin 1 | P09382 |
| C0162534 | Prion Diseases | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0162534 | Prion Diseases | PIK3CD | 5293 | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | O00329 |
| 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 |
