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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 |
|---|---|---|---|---|---|
| C1531647 | Cerebral ventriculomegaly | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0018798 | Congenital Heart Defects | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0206157 | Myopathies, Nemaline | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C4015184 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12 | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C3665347 | Visual Impairment | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0010417 | Cryptorchidism | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0521694 | Atrophic retina | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0007193 | Cardiomyopathy, Dilated | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0023434 | Chronic Lymphocytic Leukemia | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C1834674 | BETHLEM MYOPATHY 1 | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0015469 | Facial paralysis | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0270962 | Multi-core congenital myopathy | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0011854 | Diabetes Mellitus, Insulin-Dependent | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0025958 | Microcephaly | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0027092 | Myopia | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C1861922 | CAMPOMELIC DYSPLASIA | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0546264 | Congenital Fiber Type Disproportion | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0003466 | Anus, Imperforate | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0266483 | Pachygyria | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0338502 | Hypoplasia of the optic nerve | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C1261470 | Congenital meningocele | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0042571 | Vertigo | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0266544 | Microcornea | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0086543 | Cataract | FKRP | 79147 | fukutin related protein | Q9H9S5 |
| C0020302 | Hydrophthalmos | FKRP | 79147 | fukutin related protein | Q9H9S5 |
