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: C0151786
Disease: Muscle Weakness
Muscle Weakness
0.130 GeneticVariation phenotype BEFREE This deletion in the FLNC gene causes protein aggregation, abnormalities in muscle structure, and impairment in muscle fiber function, which leads to muscle weakness. 29866061 2018
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
0.130 GeneticVariation phenotype BEFREE 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: C0151786
Disease: Muscle Weakness
Muscle Weakness
0.130 GeneticVariation phenotype BEFREE Disease associated with mutations in filamin C rod domain leading to expression of a toxic protein presents with progressive proximal muscle weakness and shows focal destructive lesions of polymorphous aggregates containing desmin, myotilin and other proteins in the affected myofibres; these features correspond to the profile of myofibrillar myopathy. 22961544 2012
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness
0.130 Biomarker phenotype HPO