Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B
CUI: C0028326
Disease: Noonan Syndrome
Noonan Syndrome 		0.310 GermlineCausalMutation ORPHANET By chromosomal breakpoint mapping in a patient with a Noonan syndrome-like phenotype that encompassed short stature, blepharoptosis, and attention deficit hyperactivity disorder, we identified haploinsufficiency of the histone acetyltransferase gene MYST histone acetyltransferase (monocytic leukemia) 4 (MYST4), as the underlying cause of the phenotype. 21804188

2011