rs1057516049, KAT6A

N. diseases: 7
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Bulbous nose
CUI: C0240543
Disease: Bulbous nose
0.700 CausalMutation CLINVAR
Congenital Epicanthus
CUI: C0678230
Disease: Congenital Epicanthus
0.700 CausalMutation CLINVAR
Accessory nipple
CUI: C0266011
Disease: Accessory nipple
0.700 CausalMutation CLINVAR
Muscle Spasticity
CUI: C0026838
Disease: Muscle Spasticity
0.700 CausalMutation CLINVAR
MENTAL RETARDATION, AUTOSOMAL DOMINANT 32
CUI: C4225396
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 32
0.700 CausalMutation CLINVAR
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
0.700 CausalMutation CLINVAR
Hypoplastic fingernail
CUI: C1856786
Disease: Hypoplastic fingernail
0.700 CausalMutation CLINVAR