FHL1, four and a half LIM domains 1, 2273

N. diseases: 195; N. variants: 22
Disease: Muscular Dystrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.030 GeneticVariation disease BEFREE FHL1 mutations have been associated with various disorders that include reducing body myopathy (RBM), Emery-Dreifuss-like muscular dystrophy, isolated hypertrophic cardiomyopathy, and some overlapping conditions. 23965743 2013
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.030 GeneticVariation disease BEFREE Reducing bodies and myofibrillar myopathy features in FHL1 muscular dystrophy. 22094483 2011
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.030 Biomarker disease BEFREE We screened a large cohort of muscular dystrophy patients for abnormalities in FHL1 (n=102) and TCAP (n=100) and selected patients whose clinical features overlapped the phenotypes previously described for BAG3 (n=9), MATR3 (n=15) and PTRF (n=7). 21683594 2011