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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 |
|---|---|---|---|---|---|
| C0751254 | Creutzfeldt-Jakob Disease, Familial | PRNP | 5621 | prion protein | P04156 |
| C0751254 | Creutzfeldt-Jakob Disease, Familial | PRNP | 5621 | prion protein | F7VJQ1 |
| C0241005 | Creatine phosphokinase serum increased | B3GALNT2 | 148789 | beta-1,3-N-acetylgalactosaminyltransferase 2 | Q8NCR0 |
| C0241005 | Creatine phosphokinase serum increased | POMT1 | 10585 | protein O-mannosyltransferase 1 | Q9Y6A1 |
| C0241005 | Creatine phosphokinase serum increased | B4GAT1 | 11041 | beta-1,4-glucuronyltransferase 1 | O43505 |
| C0241005 | Creatine phosphokinase serum increased | FKTN | 2218 | fukutin | O75072 |
| C0241005 | Creatine phosphokinase serum increased | DPAGT1 | 1798 | dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 | Q9H3H5 |
| C0241005 | Creatine phosphokinase serum increased | ALG14 | 199857 | ALG14 UDP-N-acetylglucosaminyltransferase subunit | Q96F25 |
| C0241005 | Creatine phosphokinase serum increased | B4GALT1 | 2683 | beta-1,4-galactosyltransferase 1 | P15291 |
| C0241005 | Creatine phosphokinase serum increased | POMT2 | 29954 | protein O-mannosyltransferase 2 | Q9UKY4 |
| C0241005 | Creatine phosphokinase serum increased | DPM3 | 54344 | dolichyl-phosphate mannosyltransferase subunit 3, regulatory | Q9P2X0 |
| C0241005 | Creatine phosphokinase serum increased | POMGNT1 | 55624 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Q8WZA1 |
| C0241005 | Creatine phosphokinase serum increased | POGLUT1 | 56983 | protein O-glucosyltransferase 1 | Q8NBL1 |
| C0241005 | Creatine phosphokinase serum increased | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0241005 | Creatine phosphokinase serum increased | DPM1 | 8813 | dolichyl-phosphate mannosyltransferase subunit 1, catalytic | O60762 |
| C0241005 | Creatine phosphokinase serum increased | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C0241005 | Creatine phosphokinase serum increased | ALG2 | 85365 | ALG2 alpha-1,3/1,6-mannosyltransferase | Q9H553 |
| C0241005 | Creatine phosphokinase serum increased | POMGNT2 | 84892 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | Q8NAT1 |
| C0241005 | Creatine phosphokinase serum increased | POMK | 84197 | protein O-mannose kinase | Q9H5K3 |
| C0241005 | Creatine phosphokinase serum increased | GNE | 10020 | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Q9Y223 |
| C0241005 | Creatine phosphokinase serum increased | GAA | 2548 | glucosidase alpha, acid | P10253 |
| C0241005 | Creatine phosphokinase serum increased | DOLK | 22845 | dolichol kinase | Q9UPQ8 |
| C0241005 | Creatine phosphokinase serum increased | GFPT1 | 2673 | glutamine--fructose-6-phosphate transaminase 1 | Q06210 |
| C0241005 | Creatine phosphokinase serum increased | TMEM165 | 55858 | transmembrane protein 165 | Q9HC07 |
| C0241005 | Creatine phosphokinase serum increased | COG7 | 91949 | component of oligomeric golgi complex 7 | P83436 |
