KAT6A, lysine acetyltransferase 6A, 7994

N. diseases: 129; N. variants: 13
Disease: DiGeorge Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		0.200 Biomarker disease MGD Here we show that lack of the histone acetyltransferase MOZ (MYST3/KAT6A) phenocopies DiGeorge syndrome, and the MOZ complex occupies the Tbx1 locus, promoting its expression and histone 3 lysine 9 acetylation. 22921202 2012
CUI: C0012236
Disease: DiGeorge Syndrome
DiGeorge Syndrome 		0.200 Biomarker disease MGD Monocytic leukemia zinc finger protein is essential for the development of long-term reconstituting hematopoietic stem cells. 16651658 2006