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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 ▼ |
|---|---|---|---|---|---|
| C0026848 | Myopathy | FKTN | 2218 | fukutin | O75072 |
| C0338502 | Hypoplasia of the optic nerve | FKTN | 2218 | fukutin | O75072 |
| C4015184 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12 | FKTN | 2218 | fukutin | O75072 |
| C0036572 | Seizures | FKTN | 2218 | fukutin | O75072 |
| C1969024 | CARDIOMYOPATHY, DILATED, 1X | FKTN | 2218 | fukutin | O75072 |
| C0008925 | Cleft Palate | FKTN | 2218 | fukutin | O75072 |
| C0018801 | Heart failure | FKTN | 2218 | fukutin | O75072 |
| C0266483 | Pachygyria | FKTN | 2218 | fukutin | O75072 |
| C4551472 | Hypertrophic obstructive cardiomyopathy | FKTN | 2218 | fukutin | O75072 |
| C4551675 | Keratoderma, Palmoplantar | FKTN | 2218 | fukutin | O75072 |
| C0266544 | Microcornea | FKTN | 2218 | fukutin | O75072 |
| C0010038 | Corneal Opacity | FKTN | 2218 | fukutin | O75072 |
| C0699791 | Stomach Carcinoma | FKTN | 2218 | fukutin | O75072 |
| C0241005 | Creatine phosphokinase serum increased | FKTN | 2218 | fukutin | O75072 |
| C0029124 | Optic Atrophy | FKTN | 2218 | fukutin | O75072 |
| C0410180 | Eichsfeld type congenital muscular dystrophy | FKTN | 2218 | fukutin | O75072 |
| C0013264 | Muscular Dystrophy, Duchenne | FKTN | 2218 | fukutin | O75072 |
| C0151654 | Myocardial fibrosis | FKTN | 2218 | fukutin | O75072 |
| C0340427 | Familial dilated cardiomyopathy | FKTN | 2218 | fukutin | O75072 |
| C1869123 | Limb-girdle muscular dystrophy type 2A | FKTN | 2218 | fukutin | O75072 |
| C3150416 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2 | FKTN | 2218 | fukutin | O75072 |
| C3150412 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3 | FKTN | 2218 | fukutin | O75072 |
| C0018817 | Atrial Septal Defects | FKTN | 2218 | fukutin | O75072 |
| C0231528 | Myalgia | FKTN | 2218 | fukutin | O75072 |
| C0344559 | Irido-corneo-trabecular dysgenesis (disorder) | FKTN | 2218 | fukutin | O75072 |
