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: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.200 Biomarker group BEFREE RNA sequencing-based transcriptome profiling of cardiac tissue implicates novel putative disease mechanisms in FLNC-associated arrhythmogenic cardiomyopathy. 31843279 2020
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.200 Biomarker group BEFREE The most defining characteristic is a subepicardial ring-like scar pattern in DSP/FLNC, which should be considered in future diagnostic criteria for ALVC. 31317183 2020
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 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 Biomarker group BEFREE This work reported the first observation of a left ventricular non-compaction associated with a unique probably causal variant in FLNC which highlights the role of FLNC in cardiomyopathies. 31245841 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: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.200 Biomarker group BEFREE The involvement of filamin C in ACM demonstrates the genetic overlap between ACM and other types of cardiomyopathy. 29543670 2018
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.200 Biomarker group BEFREE Our data presented here provide further evidence for the role of FLNC in pediatric RCM, and suggest the need to include FLNC in genetic testing of cardiomyopathy patients including those with early ages of onset. 30260051 2018
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 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 Biomarker group BEFREE Here, we focus on a subgroup of cardiomyopathy genes [TTN, FHL1, CSRP3, FLNC and PLN, coding for Titin, Four and a Half LIM domain 1, Muscle LIM Protein, Filamin C and Phospholamban, respectively], which, despite their diverse biological functions, all have important signalling functions in the heart, suggesting that disturbances in signalling networks can contribute to cardiomyopathies. 29119312 2017
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 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 CLINVAR
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.200 Biomarker group HPO