rs57045855, LMNA

N. diseases: 6
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cardiomyopathies
CUI: C0878544
Disease: Cardiomyopathies
0.020 GeneticVariation BEFREE The Cardiomyopathy Lamin A/C D192G Mutation Disrupts Whole-Cell Biomechanics in Cardiomyocytes as Measured by Atomic Force Microscopy Loading-Unloading Curve Analysis. 26323789 2015
Cardiomyopathies
CUI: C0878544
Disease: Cardiomyopathies
0.020 GeneticVariation BEFREE The affected subjects from the other pedigrees with R60G and D192V mutations developed severe cardiomyopathy requiring defibrillator implantation and cardiac transplantation before 30 years of age in some and premature death in the fourth decade in others. 20041886 2010