Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1274633498
rs1274633498
NAA15
CUI: C4540470
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 50
MENTAL RETARDATION, AUTOSOMAL DOMINANT 50 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1380822792
rs1380822792
NAA15
CUI: C1836830
Disease: Developmental regression
Developmental regression 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1380822792
rs1380822792
NAA15
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1380822792
rs1380822792
NAA15
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1380822792
rs1380822792
NAA15
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1380822792
rs1380822792
NAA15
CUI: C1696701
Disease: Skin-picking
Skin-picking 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1380822792
rs1380822792
NAA15
CUI: C0424375
Disease: Biting self
Biting self 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1380822792
rs1380822792
NAA15
CUI: C4540470
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 50
MENTAL RETARDATION, AUTOSOMAL DOMINANT 50 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1553994814
rs1553994814
NAA15
CUI: C4540470
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 50
MENTAL RETARDATION, AUTOSOMAL DOMINANT 50 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1553996072
rs1553996072
NAA15
CUI: C4540470
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 50
MENTAL RETARDATION, AUTOSOMAL DOMINANT 50 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1553996086
rs1553996086
NAA15
CUI: C4540470
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 50
MENTAL RETARDATION, AUTOSOMAL DOMINANT 50 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1553996876
rs1553996876
NAA15
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability. 28990276

2018
dbSNP: rs1553996876
rs1553996876
NAA15
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. 28191889

2017
dbSNP: rs1553996876
rs1553996876
NAA15
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR An evolutionarily conserved N-terminal acetyltransferase complex associated with neuronal development. 12888564

2003
dbSNP: rs1553997065
rs1553997065
NAA15
CUI: C4540470
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 50
MENTAL RETARDATION, AUTOSOMAL DOMINANT 50 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1553998565
rs1553998565
NAA15
CUI: C4540470
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 50
MENTAL RETARDATION, AUTOSOMAL DOMINANT 50 		T 0.700 CausalMutation CLINVAR

dbSNP: rs779009256
rs779009256
NAA15
CUI: C4540470
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 50
MENTAL RETARDATION, AUTOSOMAL DOMINANT 50 		C 0.700 CausalMutation CLINVAR

dbSNP: rs886041097
rs886041097
NAA15
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		G 0.700 CausalMutation CLINVAR

dbSNP: rs886041097
rs886041097
NAA15
CUI: C0021125
Disease: Impulsive Behavior
Impulsive Behavior 		G 0.700 CausalMutation CLINVAR

dbSNP: rs886041097
rs886041097
NAA15
CUI: C1834433
Disease: Obsessive-compulsive trait
Obsessive-compulsive trait 		G 0.700 CausalMutation CLINVAR

dbSNP: rs886041097
rs886041097
NAA15
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		G 0.700 CausalMutation CLINVAR

dbSNP: rs886041097
rs886041097
NAA15
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		G 0.700 CausalMutation CLINVAR

dbSNP: rs886041097
rs886041097
NAA15
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		G 0.700 CausalMutation CLINVAR

dbSNP: rs886041097
rs886041097
NAA15
CUI: C1303003
Disease: Epicanthus inversus
Epicanthus inversus 		G 0.700 CausalMutation CLINVAR

dbSNP: rs886041097
rs886041097
NAA15
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		G 0.700 CausalMutation CLINVAR