Disease: Intellectual Disability ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.030 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
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.030 Biomarker group BEFREE Including AIMP1, which we have recently implicated in the etiology of ID, three genes with a role in tRNA-aminoacylation are now associated with this condition. 28236339 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.030 GeneticVariation group BEFREE Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration. 26173967 2016