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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 |
|---|---|---|---|---|---|
| C0022336 | Creutzfeldt-Jakob disease | ALPP | 250 | alkaline phosphatase, placental | P05187 |
| C0022336 | Creutzfeldt-Jakob disease | ALPI | 248 | alkaline phosphatase, intestinal | P09923 |
| C0022336 | Creutzfeldt-Jakob disease | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C0022336 | Creutzfeldt-Jakob disease | PRNP | 5621 | prion protein | P04156 |
| C0022336 | Creutzfeldt-Jakob disease | PTGS1 | 5742 | prostaglandin-endoperoxide synthase 1 | P23219 |
| C0022336 | Creutzfeldt-Jakob disease | SUCLA2 | 8803 | succinate-CoA ligase ADP-forming subunit beta | Q9P2R7 |
| C0022336 | Creutzfeldt-Jakob disease | MDH1 | 4190 | malate dehydrogenase 1 | P40925 |
| C0022336 | Creutzfeldt-Jakob disease | AMT | 275 | aminomethyltransferase | P48728 |
| C0022336 | Creutzfeldt-Jakob disease | PRNP | 5621 | prion protein | F7VJQ1 |
| C0022336 | Creutzfeldt-Jakob disease | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 | P35354 |
| C0022336 | Creutzfeldt-Jakob disease | MTMR7 | 9108 | myotubularin related protein 7 | Q9Y216 |
| C1852467 | Creutzfeldt-Jakob Disease, Sporadic | CHI3L1 | 1116 | chitinase 3 like 1 | P36222 |
| C1852467 | Creutzfeldt-Jakob Disease, Sporadic | ENO1 | 2023 | enolase 1 | P06733 |
| C1852467 | Creutzfeldt-Jakob Disease, Sporadic | ENO2 | 2026 | enolase 2 | P09104 |
| C1852467 | Creutzfeldt-Jakob Disease, Sporadic | SMUG1 | 23583 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | Q53HV7 |
| C1852467 | Creutzfeldt-Jakob Disease, Sporadic | GPI | 2821 | glucose-6-phosphate isomerase | P06744 |
| C1852467 | Creutzfeldt-Jakob Disease, Sporadic | ACHE | 43 | acetylcholinesterase (Cartwright blood group) | P22303 |
| C1852467 | Creutzfeldt-Jakob Disease, Sporadic | PRNP | 5621 | prion protein | P04156 |
| C1852467 | Creutzfeldt-Jakob Disease, Sporadic | PTGS1 | 5742 | prostaglandin-endoperoxide synthase 1 | P23219 |
| C1852467 | Creutzfeldt-Jakob Disease, Sporadic | MDH1 | 4190 | malate dehydrogenase 1 | P40925 |
| C1852467 | Creutzfeldt-Jakob Disease, Sporadic | PRNP | 5621 | prion protein | F7VJQ1 |
| C1969957 | Creutzfeldt-Jakob Disease, Heidenhain Variant | PRNP | 5621 | prion protein | P04156 |
| C1969957 | Creutzfeldt-Jakob Disease, Heidenhain Variant | PRNP | 5621 | prion protein | F7VJQ1 |
| C0751254 | Creutzfeldt-Jakob Disease, Familial | SRD5A3 | 79644 | steroid 5 alpha-reductase 3 | Q9H8P0 |
| C0751254 | Creutzfeldt-Jakob Disease, Familial | GPI | 2821 | glucose-6-phosphate isomerase | P06744 |
