Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9255
Gene Symbol: AIMP1
AIMP1
0.230 GeneticVariation group BEFREE To date, nonsense mutations in AIMP1 have been associated with a primary neurodegenerative disorder consisting of cerebral atrophy, hypomyelination, microcephaly and epilepsy, whereas missense mutations have recently been linked to intellectual disability without neurodegeneration. 30486714 2019
Entrez Id: 9255
Gene Symbol: AIMP1
AIMP1
0.230 GeneticVariation group BEFREE To date, two allelic variants in the AIMP1 gene have been reported as the underlying cause of autosomal recessive primary neurodegenerative disorder. 26173967 2016
Entrez Id: 9255
Gene Symbol: AIMP1
AIMP1
0.230 Biomarker group BEFREE We propose that AIMP1 deficiency be added to the differential diagnosis of infantile onset, progressive neurodegenerative disease. 24958424 2014
Entrez Id: 9255
Gene Symbol: AIMP1
AIMP1
0.230 Biomarker group RGD Expression of EMAP-II by activated monocytes/microglial cells in different regions of the rat hippocampus after trimethyltin-induced brain damage. 12429238 2002