KAT6A, lysine acetyltransferase 6A, 7994

N. diseases: 129; N. variants: 13
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786200952
rs786200952
Entrez Id: 7994
Gene Symbol: KAT6A
KAT6A
CUI: C1843367
Disease:
Poor school performance 		CT 0.700 CausalMutation CLINVAR Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features. 25728777 2015
dbSNP: rs786200952
rs786200952
Entrez Id: 7994
Gene Symbol: KAT6A
KAT6A
CUI: C1850049
Disease:
Clinodactyly of the 5th finger 		CT 0.700 CausalMutation CLINVAR Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features. 25728777 2015
dbSNP: rs786200952
rs786200952
Entrez Id: 7994
Gene Symbol: KAT6A
KAT6A
CUI: C0026827
Disease:
Muscle hypotonia 		CT 0.700 CausalMutation CLINVAR Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features. 25728777 2015
dbSNP: rs786200952
rs786200952
Entrez Id: 7994
Gene Symbol: KAT6A
KAT6A
CUI: C4551563
Disease:
Microcephaly (physical finding) 		CT 0.700 CausalMutation CLINVAR Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features. 25728777 2015
dbSNP: rs786200952
rs786200952
Entrez Id: 7994
Gene Symbol: KAT6A
KAT6A
CUI: C0010278
Disease:
Craniosynostosis 		CT 0.700 CausalMutation CLINVAR Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features. 25728777 2015
dbSNP: rs786200952
rs786200952
Entrez Id: 7994
Gene Symbol: KAT6A
KAT6A
CUI: C1827524
Disease:
Wide spaced nipples 		CT 0.700 CausalMutation CLINVAR Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features. 25728777 2015
dbSNP: rs786200952
rs786200952
Entrez Id: 7994
Gene Symbol: KAT6A
KAT6A
CUI: C4021866
Disease:
obsolete Abnormal heart morphology 		CT 0.700 CausalMutation CLINVAR Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features. 25728777 2015
dbSNP: rs786200952
rs786200952
Entrez Id: 7994
Gene Symbol: KAT6A
KAT6A
CUI: C0454644
Disease:
Delayed speech and language development 		CT 0.700 CausalMutation CLINVAR Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features. 25728777 2015
dbSNP: rs786200952
rs786200952
Entrez Id: 7994
Gene Symbol: KAT6A
KAT6A
CUI: C0232466
Disease:
Feeding difficulties 		CT 0.700 CausalMutation CLINVAR Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features. 25728777 2015
dbSNP: rs786200952
rs786200952
Entrez Id: 7994
Gene Symbol: KAT6A
KAT6A
CUI: C0018916
Disease:
Hemangioma 		CT 0.700 CausalMutation CLINVAR Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features. 25728777 2015
dbSNP: rs786200952
rs786200952
Entrez Id: 7994
Gene Symbol: KAT6A
KAT6A
CUI: C0240543
Disease:
Bulbous nose 		CT 0.700 CausalMutation CLINVAR Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features. 25728777 2015
dbSNP: rs786200952
rs786200952
Entrez Id: 7994
Gene Symbol: KAT6A
KAT6A
CUI: C1839758
Disease:
Narrow forehead 		CT 0.700 CausalMutation CLINVAR Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features. 25728777 2015
dbSNP: rs1057516049
rs1057516049
Entrez Id: 7994
Gene Symbol: KAT6A
KAT6A
CUI: C0240543
Disease:
Bulbous nose 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1057516049
rs1057516049
Entrez Id: 7994
Gene Symbol: KAT6A
KAT6A
CUI: C0678230
Disease:
Congenital Epicanthus 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1057516049
rs1057516049
Entrez Id: 7994
Gene Symbol: KAT6A
KAT6A
CUI: C0266011
Disease:
Accessory nipple 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1057516049
rs1057516049
Entrez Id: 7994
Gene Symbol: KAT6A
KAT6A
CUI: C0026838
Disease:
Muscle Spasticity 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1057516049
rs1057516049
Entrez Id: 7994
Gene Symbol: KAT6A
KAT6A
CUI: C4225396
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1057516049
rs1057516049
Entrez Id: 7994
Gene Symbol: KAT6A
KAT6A
CUI: C0557874
Disease:
Global developmental delay 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1057516049
rs1057516049
Entrez Id: 7994
Gene Symbol: KAT6A
KAT6A
CUI: C1856786
Disease:
Hypoplastic fingernail 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1554679726
rs1554679726
Entrez Id: 7994
Gene Symbol: KAT6A
KAT6A
CUI: C4225396
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1554680188
rs1554680188
Entrez Id: 7994
Gene Symbol: KAT6A
KAT6A
CUI: C4225396
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1554680245
rs1554680245
Entrez Id: 7994
Gene Symbol: KAT6A
KAT6A
CUI: C4225396
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1564005155
rs1564005155
Entrez Id: 7994
Gene Symbol: KAT6A
KAT6A
CUI: C4225396
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1564038389
rs1564038389
Entrez Id: 7994
Gene Symbol: KAT6A
KAT6A
CUI: C4225396
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1564038539
rs1564038539
Entrez Id: 7994
Gene Symbol: KAT6A
KAT6A
CUI: C4225396
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 		A 0.700 CausalMutation CLINVAR