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 Protein molecular modeling techniques investigating novel TAB2 variant R347X causing cardiomyopathy and congenital heart defects in multigenerational family. 29700987 2018
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies
0.020 Biomarker group BEFREE 6q25.1 (TAB2) microdeletion syndrome: Congenital heart defects and cardiomyopathy. 28464518 2017