FLNC, filamin C, 2318

N. diseases: 132; N. variants: 56
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 On this line, we suggest that the combination of the OBSCN p.Arg4444Trp variant and of the FLNC c.5161delG mutation, can cooperatively affect myofibril stability and increase the penetrance of muscular dystrophy in the French family. 29073160 2017
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.030 GeneticVariation disease BEFREE We identified causative mutations in desmin (IVS3+3A>G) and filamin C (p.W2710X), and augmented the phenotype data for individuals with muscular dystrophy due to these mutations. 23155419 2012
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.030 Biomarker disease BEFREE The finding that FLN2 interacts with the sarcoglycans introduces new implications for the pathogenesis of muscular dystrophy. 10629222 2000