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 Biomarker disease GENOMICS_ENGLAND De novo mutations in FLNC leading to early-onset restrictive cardiomyopathy and congenital myopathy. 29858533 2018
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: 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 Biomarker disease GENOMICS_ENGLAND FLNC Gene Splice Mutations Cause Dilated Cardiomyopathy. 28008423 2016
CUI: C1836050
Disease: Filaminopathy, autosomal dominant
Filaminopathy, autosomal dominant
0.910 CausalMutation disease CLINVAR FLNC Gene Splice Mutations Cause Dilated Cardiomyopathy. 28008423 2016
CUI: C1836050
Disease: Filaminopathy, autosomal dominant
Filaminopathy, autosomal dominant
0.910 Biomarker disease CLINGEN Cardiac arrhythmia and late-onset muscle weakness caused by a myofibrillar myopathy with unusual histopathological features due to a novel missense mutation in FLNC. 27633507 2016
CUI: C1836050
Disease: Filaminopathy, autosomal dominant
Filaminopathy, autosomal dominant
0.910 Biomarker disease GENOMICS_ENGLAND Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy. 26666891 2016
CUI: C1836050
Disease: Filaminopathy, autosomal dominant
Filaminopathy, autosomal dominant
0.910 CausalMutation 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 CausalMutation disease CLINVAR Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned. 26436962 2015
CUI: C1836050
Disease: Filaminopathy, autosomal dominant
Filaminopathy, autosomal dominant
0.910 Biomarker disease MGD Myofibrillar instability exacerbated by acute exercise in filaminopathy. 26472074 2015
CUI: C1836050
Disease: Filaminopathy, autosomal dominant
Filaminopathy, autosomal dominant
0.910 Biomarker disease CLINGEN Myofibrillar instability exacerbated by acute exercise in filaminopathy. 26472074 2015
CUI: C1836050
Disease: Filaminopathy, autosomal dominant
Filaminopathy, autosomal dominant
0.910 CausalMutation disease CLINVAR Prioritizing causal disease genes using unbiased genomic features. 25633252 2014
CUI: C1836050
Disease: Filaminopathy, autosomal dominant
Filaminopathy, autosomal dominant
0.910 Biomarker disease CLINGEN Prioritizing causal disease genes using unbiased genomic features. 25633252 2014
CUI: C1836050
Disease: Filaminopathy, autosomal dominant
Filaminopathy, autosomal dominant
0.910 Biomarker disease CLINGEN Filamin C-related myopathies: pathology and mechanisms. 23109048 2013
CUI: C1836050
Disease: Filaminopathy, autosomal dominant
Filaminopathy, autosomal dominant
0.910 Biomarker disease GENOMICS_ENGLAND Novel FLNC mutation in a patient with myofibrillar myopathy in combination with late-onset cerebellar ataxia. 22806379 2012
CUI: C1836050
Disease: Filaminopathy, autosomal dominant
Filaminopathy, autosomal dominant
0.910 Biomarker disease CLINGEN Pathophysiology of protein aggregation and extended phenotyping in filaminopathy. 22961544 2012
CUI: C1836050
Disease: Filaminopathy, autosomal dominant
Filaminopathy, autosomal dominant
0.910 CausalMutation disease CLINVAR LOVD v.2.0: the next generation in gene variant databases. 21520333 2011
CUI: C1836050
Disease: Filaminopathy, autosomal dominant
Filaminopathy, autosomal dominant
0.910 Biomarker disease CLINGEN A novel heterozygous deletion-insertion mutation (2695-2712 del/GTTTGT ins) in exon 18 of the filamin C gene causes filaminopathy in a large Chinese family. 20417099 2010
CUI: C1836050
Disease: Filaminopathy, autosomal dominant
Filaminopathy, autosomal dominant
0.910 Biomarker disease CLINGEN In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy. 19050726 2009
CUI: C1836050
Disease: Filaminopathy, autosomal dominant
Filaminopathy, autosomal dominant
0.910 Biomarker disease CLINGEN Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients. 18055494 2007
CUI: C1836050
Disease: Filaminopathy, autosomal dominant
Filaminopathy, autosomal dominant
0.910 Biomarker disease CLINGEN Loss of FilaminC (FLNc) results in severe defects in myogenesis and myotube structure. 16914736 2006
CUI: C1836050
Disease: Filaminopathy, autosomal dominant
Filaminopathy, autosomal dominant
0.910 Biomarker disease GENOMICS_ENGLAND A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy. 15929027 2005
CUI: C1836050
Disease: Filaminopathy, autosomal dominant
Filaminopathy, autosomal dominant
0.910 GermlineCausalMutation disease ORPHANET A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy. 15929027 2005
CUI: C1836050
Disease: Filaminopathy, autosomal dominant
Filaminopathy, autosomal dominant
0.910 Biomarker disease CLINGEN A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy. 15929027 2005
CUI: C1836050
Disease: Filaminopathy, autosomal dominant
Filaminopathy, autosomal dominant
0.910 Biomarker disease CLINGEN Characterization of muscle filamin isoforms suggests a possible role of gamma-filamin/ABP-L in sarcomeric Z-disc formation. 10658210 2000