Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder) ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)
CUI: C1861861
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)
0.010 GeneticVariation BEFREE These results suggest that the RCM-associated cTnI R145W mutation induces a permanent structural state that is similar to, but more extensive than, that induced by PKC-mediated phosphorylation of cTnI Thr-143. 27557662 2016