Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.020 GeneticVariation disease BEFREE Our study shows that individuals with TAB2 deletions are predisposed to developing a primary cardiomyopathy with reduced systolic function, even in the absence of CHD. 28464518 2017
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.020 GeneticVariation disease BEFREE To definitively confirm the role of this candidate gene in CHDs, we performed mutation analysis of TAB2 in 402 patients with a CHD, which revealed two evolutionarily conserved missense mutations. 20493459 2010