Disease: Muscle hypotonia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553996876
rs1553996876
Entrez Id: 80155
Gene Symbol: NAA15
NAA15
CUI: C0026827
Disease:
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
Entrez Id: 80155
Gene Symbol: NAA15
NAA15
CUI: C0026827
Disease:
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
Entrez Id: 80155
Gene Symbol: NAA15
NAA15
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR An evolutionarily conserved N-terminal acetyltransferase complex associated with neuronal development. 12888564 2003