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: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy
0.130 GeneticVariation disease BEFREE Recently, a number of variants in FLNC have been described that cause hypertrophic, dilated, and restrictive cardiomyopathies. 30260051 2018
CUI: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy
0.130 GeneticVariation disease BEFREE Here, we report a new clinical phenotype of filaminopathy in four unrelated patients with early-onset restrictive cardiomyopathy (RCM) in combination with congenital myopathy due to FLNC mutations (NM_001458.4:c.3557C>T, p.A1186V, rs1114167361 in three probands and c.[3547G>C; 3548C>T], p.A1183L, rs1131692185 in one proband). 29858533 2018
CUI: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy
0.130 CausalMutation disease CLINVAR Novel pathogenic variants in filamin C identified in pediatric restrictive cardiomyopathy. 30260051 2018
CUI: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy
0.130 GeneticVariation disease BEFREE Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy. 26666891 2016
CUI: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy
0.130 GeneticVariation disease CLINVAR