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: C1836050
Disease: Filaminopathy, autosomal dominant
Filaminopathy, autosomal dominant 		0.910 GeneticVariation disease CLINVAR Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies. 27908349 2016
CUI: C1836050
Disease: Filaminopathy, autosomal dominant
Filaminopathy, autosomal dominant 		0.910 GeneticVariation disease BEFREE A novel heterogeneous 15-nucleotide deletion (c.2791_2805del, p.931_935del) in the Ig-like domain 7 of the FLNC gene was found to cause filamin C-related MFM. 29866061 2018
CUI: C3279722
Disease: MYOPATHY, DISTAL, 4
MYOPATHY, DISTAL, 4 		0.700 GeneticVariation disease CLINVAR Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies. 27908349 2016
CUI: C3279722
Disease: MYOPATHY, DISTAL, 4
MYOPATHY, DISTAL, 4 		0.700 GeneticVariation disease UNIPROT Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy. 21620354 2011
CUI: C4310749
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26 		0.700 GeneticVariation disease UNIPROT Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy. 26666891 2016
CUI: C4310749
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26 		0.700 GeneticVariation disease CLINVAR Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies. 27908349 2016
CUI: C4310749
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26 		0.700 GeneticVariation disease UNIPROT Mutations in filamin C cause a new form of familial hypertrophic cardiomyopathy. 25351925 2014
CUI: C0026848
Disease: Myopathy
Myopathy 		0.200 GeneticVariation group BEFREE Mutations in myotilin (MYOT), ZASP and filamin C (FLNC) encoding genes cause autosomal dominant myopathy that manifests in adulthood. 19181098 2008
CUI: C0026848
Disease: Myopathy
Myopathy 		0.200 GeneticVariation group BEFREE In humans, mutations in the actin-binding protein Filamin-C result in myopathies, but the underlying molecular function is not well understood. 28732005 2017
CUI: C0026848
Disease: Myopathy
Myopathy 		0.200 GeneticVariation group BEFREE Mutations in FLNC cause two distinct types of myopathy. 22961544 2012
CUI: C0026848
Disease: Myopathy
Myopathy 		0.200 GeneticVariation group BEFREE Filamin myopathy is associated with mutations in the filamin C gene (FLNC) and is a myofibrillar myopathy characterized by focal myofibrillar destruction and cytoplasmic aggregates containing several Z-disk-related proteins. 20697107 2010
CUI: C0026848
Disease: Myopathy
Myopathy 		0.200 GeneticVariation group LHGDN In an extended German pedigree with a novel form of MFM characterized by clinical features of a limb-girdle myopathy and morphological features of MFM, we identified a co-segregating, heterozygous nonsense mutation (8130G-->A; W2710X) in the filamin c gene (FLNC) on chromosome 7q32.1. 15929027 2005
CUI: C0026848
Disease: Myopathy
Myopathy 		0.200 GeneticVariation group BEFREE This is an original FLNC mutation in a MFM family with an atypical clinical and histopathological presentation, given the presence of significantly focal lesions and prominent sarcoplasmic masses in muscle biopsies and the constant heart involvement preceding significantly the onset of the myopathy. 27633507 2016
CUI: C0026848
Disease: Myopathy
Myopathy 		0.200 GeneticVariation group BEFREE Overall, 50 patients with a phenotype resembling filamin myopathy have been screened for mutations in FLNC. 20578970 2010
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.200 GeneticVariation group BEFREE The aim of this study was to demonstrate the association between truncating mutations in FLNC and the development of high-risk dilated and arrhythmogenic cardiomyopathies. 27908349 2016
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.200 GeneticVariation group CLINVAR
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.200 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: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.200 GeneticVariation group BEFREE In 3 individuals, WGS identified variants in genes implicated in cardiomyopathy but not included in prior panel testing: a pathogenic protein tyrosine phosphatase, non-receptor type 11 (<i>PTPN11</i>) variant and variants of uncertain significance in integrin-linked kinase (<i>ILK</i>) and filamin-C (<i>FLNC</i>). 29030401 2017
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.200 GeneticVariation group BEFREE Mutations in the gene encoding FLNc give rise to skeletal muscle diseases and cardiomyopathies. 27206985 2016
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.200 GeneticVariation group BEFREE Mutations in FLNC for a long time are known in connection to neuromuscular disorders and only recently were described in association with various cardiomyopathies. 29858533 2018
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.200 GeneticVariation group BEFREE Because of the presence of a similar phenotype in the proband's mother, brother, and maternal aunt, research-based whole exome sequencing was pursued and a novel truncating variant (p.Trp34*-FLNC) in the cardiomyopathy-causative FLNC-encoded filamin C unearthed that cosegregated with disease. 30935706 2019
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.200 GeneticVariation group BEFREE Variants in Filamin C (FLNC) gene may cause either cardiomyopathies or different myopathies. 30685713 2019
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.200 GeneticVariation disease BEFREE FLNC mutations have been associated with myofibrillar myopathies, and cardiac involvement has been reported in some carriers. 27908349 2016
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.200 GeneticVariation disease BEFREE Analysis of the expanded database allows us to refine clinical and myopathological characteristics of myofibrillar myopathy caused by mutations in the rod domain of filamin C. Biophysical and biochemical studies indicate that certain pathogenic mutations in FLNC cause protein misfolding, which triggers aggregation of the mutant filamin C protein and subsequently involves several other proteins. 22961544 2012
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.200 GeneticVariation disease BEFREE Myofibrillar myopathies (MFM) are a group of disorders associated with mutations in DES, CRYAB, MYOT, ZASP, FLNC, or BAG3 genes and characterized by disintegration of myofibrils and accumulation of degradation products into intracellular inclusions. 21676617 2011