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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 |
|---|---|---|---|---|---|
| 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 |
| C0152025 | Polyneuropathy | PRNP | 5621 | prion protein | F7VJQ1 |
| C0152025 | Polyneuropathy | PRPS1 | 5631 | phosphoribosyl pyrophosphate synthetase 1 | P60891 |
| C0152025 | Polyneuropathy | SCP2 | 6342 | sterol carrier protein 2 | P22307 |
| C0152025 | Polyneuropathy | TKT | 7086 | transketolase | P29401 |
| C0393851 | Polyneuropathy, Critical Illness | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0393851 | Polyneuropathy, Critical Illness | 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 |
| C0271683 | Polyneuropathy, Motor | PNPLA6 | 10908 | patatin like phospholipase domain containing 6 | Q8IY17 |
| C0271683 | Polyneuropathy, Motor | CHAT | 1103 | choline O-acetyltransferase | P28329 |
| C0271683 | Polyneuropathy, Motor | AGRN | 375790 | agrin | O00468 |
| C0271683 | Polyneuropathy, Motor | SCP2 | 6342 | sterol carrier protein 2 | P22307 |
| C0016065 | Polyostotic fibrous dysplasia | PLA2G15 | 23659 | phospholipase A2 group XV | Q8NCC3 |
| C0016065 | Polyostotic fibrous dysplasia | ACSS2 | 55902 | acyl-CoA synthetase short chain family member 2 | Q9NR19 |
| C2713442 | Polyposis, Adenomatous Intestinal | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C2713442 | Polyposis, Adenomatous Intestinal | MUTYH | 4595 | mutY DNA glycosylase | Q9UIF7 |
| C2713442 | Polyposis, Adenomatous Intestinal | NTHL1 | 4913 | nth like DNA glycosylase 1 | P78549 |
