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
Displaying entries 54276 - 54300 of 62743 in total
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