KAT6B, lysine acetyltransferase 6B, 23522

N. diseases: 208; N. variants: 27
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs12254441
rs12254441
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B
CUI: C1305855
Disease:
Body mass index 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs199470477
rs199470477
Entrez Id: 23522;338599
Gene Symbol: KAT6B;DUPD1
KAT6B;DUPD1
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR A novel truncating variant within exon 7 of KAT6B associated with features of both Say-Barber-Bieseker-Young-Simpson syndrome and genitopatellar syndrome: Further evidence of a continuum in the clinical spectrum of KAT6B-related disorders. 29226580 2018
dbSNP: rs199470477
rs199470477
Entrez Id: 23522;338599
Gene Symbol: KAT6B;DUPD1
KAT6B;DUPD1
CUI: C1853566
Disease:
Genitopatellar Syndrome 		A 0.700 CausalMutation CLINVAR Lin-Gettig syndrome: Craniosynostosis expands the spectrum of the KAT6B related disorders. 28696035 2017
dbSNP: rs199470477
rs199470477
Entrez Id: 23522;338599
Gene Symbol: KAT6B;DUPD1
KAT6B;DUPD1
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Lin-Gettig syndrome: Craniosynostosis expands the spectrum of the KAT6B related disorders. 28696035 2017
dbSNP: rs1057516033
rs1057516033
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B
CUI: C1858120
Disease:
Generalized hypotonia 		A 0.700 CausalMutation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784 2016
dbSNP: rs1057516033
rs1057516033
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B
CUI: C0557874
Disease:
Global developmental delay 		A 0.700 CausalMutation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784 2016
dbSNP: rs1057516033
rs1057516033
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B
CUI: C0005744
Disease:
Blepharophimosis 		A 0.700 CausalMutation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784 2016
dbSNP: rs1057516033
rs1057516033
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B
CUI: C0020676
Disease:
Hypothyroidism 		A 0.700 CausalMutation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784 2016
dbSNP: rs1057516033
rs1057516033
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B
CUI: C0026838
Disease:
Muscle Spasticity 		A 0.700 CausalMutation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784 2016
dbSNP: rs1057516033
rs1057516033
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B
CUI: C1863557
Disease:
Young Simpson syndrome 		A 0.700 CausalMutation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784 2016
dbSNP: rs1057516033
rs1057516033
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B
CUI: C0240543
Disease:
Bulbous nose 		A 0.700 CausalMutation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784 2016
dbSNP: rs1057516033
rs1057516033
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B
CUI: C0175754
Disease:
Agenesis of corpus callosum 		A 0.700 CausalMutation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784 2016
dbSNP: rs1057516033
rs1057516033
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B
CUI: C0010417
Disease:
Cryptorchidism 		A 0.700 CausalMutation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784 2016
dbSNP: rs199470477
rs199470477
Entrez Id: 23522;338599
Gene Symbol: KAT6B;DUPD1
KAT6B;DUPD1
CUI: C1853566
Disease:
Genitopatellar Syndrome 		A 0.700 CausalMutation CLINVAR Further delineation of the KAT6B molecular and phenotypic spectrum. 25424711 2015
dbSNP: rs199470477
rs199470477
Entrez Id: 23522;338599
Gene Symbol: KAT6B;DUPD1
KAT6B;DUPD1
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR A recurrent synonymous KAT6B mutation causes Say-Barber-Biesecker/Young-Simpson syndrome by inducing aberrant splicing. 26334766 2015
dbSNP: rs199470477
rs199470477
Entrez Id: 23522;338599
Gene Symbol: KAT6B;DUPD1
KAT6B;DUPD1
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Further delineation of the KAT6B molecular and phenotypic spectrum. 25424711 2015
dbSNP: rs199470477
rs199470477
Entrez Id: 23522;338599
Gene Symbol: KAT6B;DUPD1
KAT6B;DUPD1
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndrome. 23436491 2013
dbSNP: rs199470477
rs199470477
Entrez Id: 23522;338599
Gene Symbol: KAT6B;DUPD1
KAT6B;DUPD1
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome. 22265014 2012
dbSNP: rs199470477
rs199470477
Entrez Id: 23522;338599
Gene Symbol: KAT6B;DUPD1
KAT6B;DUPD1
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 CausalMutation CLINVAR The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms. 22715153 2012
dbSNP: rs1564632652
rs1564632652
Entrez Id: 23522;338599
Gene Symbol: KAT6B;DUPD1
KAT6B;DUPD1
CUI: C1853566
Disease:
Genitopatellar Syndrome 		T 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
dbSNP: rs199470477
rs199470477
Entrez Id: 23522;338599
Gene Symbol: KAT6B;DUPD1
KAT6B;DUPD1
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 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
dbSNP: rs199470477
rs199470477
Entrez Id: 23522;338599
Gene Symbol: KAT6B;DUPD1
KAT6B;DUPD1
CUI: C1853566
Disease:
Genitopatellar Syndrome 		A 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
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
dbSNP: rs1554843829
rs1554843829
Entrez Id: 23522;109623471
Gene Symbol: KAT6B;SNORD172
KAT6B;SNORD172
CUI: C1863557
Disease:
Young Simpson syndrome 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1554844486
rs1554844486
Entrez Id: 23522
Gene Symbol: KAT6B
KAT6B
CUI: C0240543
Disease:
Bulbous nose 		G 0.700 GeneticVariation CLINVAR