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 |
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DisGeNET | July 29, 2024 |
Disease ID | Disease Name | Gene Symbol | Gene ID ▲ | Gene Name | UniProt ID |
---|---|---|---|---|---|
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 |
C0042514 | Tachycardia, Ventricular | FKRP | 79147 | fukutin related protein | Q9H9S5 |
C0036857 | Severe intellectual disability | FKRP | 79147 | fukutin related protein | Q9H9S5 |
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Last updated: August 19, 2024