TNNI3K, TNNI3 interacting kinase, 51086

N. diseases: 50; N. variants: 23
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.020 GeneticVariation group BEFREE Supraventricular tachycardias, conduction disease, and cardiomyopathy in 3 families with the same rare variant in TNNI3K (p.Glu768Lys). 30010057 2019
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.020 AlteredExpression group BEFREE Importantly, we show that the increased TNNI3K kinase activity induces mouse cardiac remodeling, and its kinase activity promotes accelerated disease progression in a left-ventricular pressure overload model of mouse cardiomyopathy. 23085512 2013