Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.120 CausalMutation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016