Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs879253867
rs879253867
Entrez Id: 9255
Gene Symbol: AIMP1
AIMP1
CUI: C1850053
Disease:
Pelizaeus-Merzbacher-like disease, autosomal recessive, 2 		T 0.700 CausalMutation CLINVAR Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. 26257172 2015
dbSNP: rs387906865
rs387906865
Entrez Id: 9255
Gene Symbol: AIMP1
AIMP1
CUI: C1850053
Disease:
Pelizaeus-Merzbacher-like disease, autosomal recessive, 2 		T 0.700 CausalMutation CLINVAR
dbSNP: rs724159969
rs724159969
Entrez Id: 9255
Gene Symbol: AIMP1
AIMP1
CUI: C1850053
Disease:
Pelizaeus-Merzbacher-like disease, autosomal recessive, 2 		T 0.700 CausalMutation CLINVAR
dbSNP: rs750731609
rs750731609
Entrez Id: 9255
Gene Symbol: AIMP1
AIMP1
CUI: C1850053
Disease:
Pelizaeus-Merzbacher-like disease, autosomal recessive, 2 		T 0.700 CausalMutation CLINVAR
dbSNP: rs750731609
rs750731609
Entrez Id: 9255
Gene Symbol: AIMP1
AIMP1
CUI: C0266468
Disease:
Congenital pontocerebellar hypoplasia 		0.010 GeneticVariation BEFREE Here, we report a novel frameshift AIMP1 homozygous variant (c.160delA,p.Lys54Asnfs) in a child with pontocerebellar hypoplasia and simplified gyral pattern, a phenotype not been previously described with AIMP1 variants, thus expanding the phenotypic spectrum. 30924036 2019
dbSNP: rs750731609
rs750731609
Entrez Id: 9255
Gene Symbol: AIMP1
AIMP1
CUI: C1261175
Disease:
Pontoneocerebellar hypoplasia 		0.010 GeneticVariation BEFREE Here, we report a novel frameshift AIMP1 homozygous variant (c.160delA,p.Lys54Asnfs) in a child with pontocerebellar hypoplasia and simplified gyral pattern, a phenotype not been previously described with AIMP1 variants, thus expanding the phenotypic spectrum. 30924036 2019