KAT2B, lysine acetyltransferase 2B, 8850

N. diseases: 116; N. variants: 9
Disease: Heart Diseases ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018799
Disease: Heart Diseases
Heart Diseases 		0.010 Biomarker group BEFREE Altogether, our studies describe the expansion of the phenotypic spectrum in ADD3 deficiency associated with a homozygous likely pathogenic KAT2B variant and thereby identify KAT2B as a susceptibility gene for kidney and heart disease in ADD3-associated disorders. 29768408 2018