Gene: AFG3L2 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10939
Gene Symbol: AFG3L2
AFG3L2 		0.110 PosttranslationalModification disease BEFREE According to the Ottawa Heart Genomics Study genome-wide association study, a recent research identified that Q688 spastic paraplegia 7 (SPG7) variant is associated with CAD as it bypasses the regulation of tyrosine phosphorylation of AFG3L2 and enhances the processing and maturation of SPG7 protein. 27164068 2016
Entrez Id: 10939
Gene Symbol: AFG3L2
AFG3L2 		0.110 CausalMutation disease CLINVAR Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias. 20725928 2010