rs727503512, TNNT2

N. diseases: 5
Disease: Cardiomyopathy, Dilated ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cardiomyopathy, Dilated
CUI: C0007193
Disease: Cardiomyopathy, Dilated
0.700 CausalMutation CLINVAR Effects of troponin T cardiomyopathy mutations on the calcium sensitivity of the regulated thin filament and the actomyosin cross-bridge kinetics of human β-cardiac myosin. 24367593 2013
Cardiomyopathy, Dilated
CUI: C0007193
Disease: Cardiomyopathy, Dilated
0.700 CausalMutation CLINVAR Poor prognosis of rare sarcomeric gene variants in patients with dilated cardiomyopathy. 24119082 2013
Cardiomyopathy, Dilated
CUI: C0007193
Disease: Cardiomyopathy, Dilated
0.700 CausalMutation CLINVAR Whole exome sequencing identifies a troponin T mutation hot spot in familial dilated cardiomyopathy. 24205113 2013
Cardiomyopathy, Dilated
CUI: C0007193
Disease: Cardiomyopathy, Dilated
0.700 CausalMutation CLINVAR Patient-specific induced pluripotent stem cells as a model for familial dilated cardiomyopathy. 22517884 2012
Cardiomyopathy, Dilated
CUI: C0007193
Disease: Cardiomyopathy, Dilated
0.700 CausalMutation CLINVAR Cardiac structural and sarcomere genes associated with cardiomyopathy exhibit marked intolerance of genetic variation. 23074333 2012