KAT6B, lysine acetyltransferase 6B, 23522

N. diseases: 26; N. variants: 25
Disease: Young Simpson syndrome ×
Source: CLINVAR ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1863557
Disease: Young Simpson syndrome
Young Simpson syndrome 		0.790 CausalMutation disease CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784 2016
CUI: C1863557
Disease: Young Simpson syndrome
Young Simpson syndrome 		0.790 CausalMutation disease CLINVAR Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome. 22077973 2011
CUI: C1863557
Disease: Young Simpson syndrome
Young Simpson syndrome 		0.790 GeneticVariation disease CLINVAR