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: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia
0.020 GeneticVariation phenotype BEFREE The authors report for the first time a novel mutation in the FLNC gene associated with cardiac arrhythmias in two half-siblings. 30118858 2019
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia
0.020 GeneticVariation phenotype BEFREE ACM associated with FLNC variants presents with a distinctive phenotype characterized by Holter arrhythmia and LGE on CMRI with unremarkable ECG and echocardiographic findings. 31627847 2019