LMOD2, leiomodin 2, 442721

N. diseases: 9; N. variants: 2
Disease: Hypertrophic Cardiomyopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.010 GeneticVariation disease BEFREE We suggest that the K15N mutation causes DCM by altering Ca<sup>2+</sup>-dependent thin-filament regulation and that one of the possible HCM-causing mechanisms by the R21H mutation is through alteration of leiomodin's function. 30462572 2019