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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 |
|---|---|---|---|---|---|
| C0271683 | Polyneuropathy, Motor | AGRN | 375790 | agrin | O00468 |
| C0271683 | Polyneuropathy, Motor | SCP2 | 6342 | sterol carrier protein 2 | P22307 |
| C0751448 | Polyneuropathy, Familial | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0751448 | Polyneuropathy, Familial | SCP2 | 6342 | sterol carrier protein 2 | P22307 |
| C0393851 | Polyneuropathy, Critical Illness | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0393851 | Polyneuropathy, Critical Illness | SCP2 | 6342 | sterol carrier protein 2 | P22307 |
| C0152025 | Polyneuropathy | B3GAT1 | 27087 | beta-1,3-glucuronyltransferase 1 | Q9P2W7 |
| C0152025 | Polyneuropathy | FUCA1 | 2517 | alpha-L-fucosidase 1 | P04066 |
| C0152025 | Polyneuropathy | ARSA | 410 | arylsulfatase A | P15289 |
| C0152025 | Polyneuropathy | PMM2 | 5373 | phosphomannomutase 2 | O15305 |
| C0152025 | Polyneuropathy | PSAP | 5660 | prosaposin | P07602 |
| C0152025 | Polyneuropathy | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0152025 | Polyneuropathy | PNP | 4860 | purine nucleoside phosphorylase | P00491 |
| C0152025 | Polyneuropathy | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0152025 | Polyneuropathy | CD55 | 1604 | CD55 molecule (Cromer blood group) | P08174 |
| C0152025 | Polyneuropathy | ACE | 1636 | angiotensin I converting enzyme | P12821 |
| C0152025 | Polyneuropathy | GPX1 | 2876 | glutathione peroxidase 1 | P07203 |
| C0152025 | Polyneuropathy | MAG | 4099 | myelin associated glycoprotein | P20916 |
| C0152025 | Polyneuropathy | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C0152025 | Polyneuropathy | PRNP | 5621 | prion protein | P04156 |
| C0152025 | Polyneuropathy | CAT | 847 | catalase | P04040 |
| C0152025 | Polyneuropathy | DEGS1 | 8560 | delta 4-desaturase, sphingolipid 1 | O15121 |
| C0152025 | Polyneuropathy | CYP7B1 | 9420 | cytochrome P450 family 7 subfamily B member 1 | O75881 |
| C0152025 | Polyneuropathy | RPIA | 22934 | ribose 5-phosphate isomerase A | P49247 |
| C0152025 | Polyneuropathy | HADHB | 3032 | hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta | P55084 |
