FLNC, filamin C, 2318

N. diseases: 132; N. variants: 56
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.040 GeneticVariation group BEFREE Pathogenic variants in the filamin C (FLNC) gene are associated with inherited cardiomyopathies including dilated cardiomyopathy with an arrhythmogenic phenotype. 31627847 2019
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.040 GeneticVariation group BEFREE Variants in NKX2-5 and FLNC Cause Dilated Cardiomyopathy and Sudden Cardiac Death. 30354339 2018
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.040 GeneticVariation group BEFREE This study confirms that truncating variants on myofibrillar myopathies causing genes are frequently associated with dilated cardiomyopathies and also suggest that FLNC mutations could be considered as a common cause of dilated cardiomyopathy. 28436997 2017
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.040 Biomarker group BEFREE As the associated clinical features of affected patients are mild, and can be easily overlooked, testing for FLNC should be considered in children presenting with dilated cardiomyopathy. 27601210 2016