KAT6A, lysine acetyltransferase 6A, 7994

N. diseases: 129; N. variants: 13
Disease: Intellectual Disability ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.120 Biomarker group BEFREE BRPF1 encodes a protein modifier of two histone acetyltransferases associated with ID: KAT6A (also known as MOZ or MYST3) and KAT6B (MORF or MYST4). 27939639 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.120 GeneticVariation group BEFREE Finally, by detailed clinical characterization we provide evidence that heterozygous mutations in KAT6A cause a distinct intellectual disability syndrome. 25728777 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.120 Biomarker group HPO