KAT6B, lysine acetyltransferase 6B, 23522

N. diseases: 208; N. variants: 27
Disease: Young Simpson syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199470482
rs199470482
Entrez Id: 23522;338599
Gene Symbol: KAT6B;DUPD1
KAT6B;DUPD1
CUI: C1863557
Disease:
Young Simpson syndrome 		AGCTGCAGCAT 0.700 CausalMutation CLINVAR Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome. 22077973 2011