KAT6B, lysine acetyltransferase 6B, 23522

N. diseases: 26; N. variants: 25
Disease: Genitopatellar Syndrome ×
Source: CLINVAR ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1853566
Disease: Genitopatellar Syndrome
Genitopatellar Syndrome 		0.800 CausalMutation disease CLINVAR Lin-Gettig syndrome: Craniosynostosis expands the spectrum of the KAT6B related disorders. 28696035 2017
CUI: C1853566
Disease: Genitopatellar Syndrome
Genitopatellar Syndrome 		0.800 CausalMutation disease CLINVAR Further delineation of the KAT6B molecular and phenotypic spectrum. 25424711 2015
CUI: C1853566
Disease: Genitopatellar Syndrome
Genitopatellar Syndrome 		0.800 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