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 |
---|---|---|---|---|---|
C0699743 | Congenital muscular dystrophy (disorder) | FKTN | 2218 | fukutin | O75072 |
C0520947 | Clumsiness - motor delay | FKTN | 2218 | fukutin | O75072 |
C0026010 | Microphthalmos | FKTN | 2218 | fukutin | O75072 |
C0008924 | Cleft upper lip | FKTN | 2218 | fukutin | O75072 |
C0221356 | Brachycephaly | FKTN | 2218 | fukutin | O75072 |
C0020302 | Hydrophthalmos | FKTN | 2218 | fukutin | O75072 |
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 |
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Last updated: August 19, 2024