LMNA, lamin A/C, 4000

N. diseases: 401; N. variants: 107
Source: BEFREE ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018794
Disease: Heart Block
Heart Block
0.330 GeneticVariation disease BEFREE To recapitulate progressive human dilated cardiomyopathy (DCM) and heart block in the Lmna R225X mutant mice model and investigate the molecular basis of LMNA mutation induced cardiac conduction disorders (CD); To investigate the potential interventional impact of exercise endurance. 31668660 2020
CUI: C0018794
Disease: Heart Block
Heart Block
0.330 Biomarker disease BEFREE The early diagnosis of LMNA-associated muscular dystrophy is important for preventing sudden arrest related to cardiac conduction block. 29057633 2017
CUI: C0018794
Disease: Heart Block
Heart Block
0.330 GeneticVariation disease BEFREE A missense mutation in the exon 8 of lamin A/C gene in a Japanese case of autosomal dominant limb-girdle muscular dystrophy and cardiac conduction block. 11525883 2001