Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555890974
rs1555890974
ACO2 ; POLR3H
C 0.700 CausalMutation CLINVAR Increased Survival and Partly Preserved Cognition in a Patient With ACO2-Related Disease Secondary to a Novel Variant. 28545339

2017
dbSNP: rs1555890974
rs1555890974
ACO2 ; POLR3H
C 0.700 CausalMutation CLINVAR Functional cellular analyses reveal energy metabolism defect and mitochondrial DNA depletion in a case of mitochondrial aconitase deficiency. 26992325

2016
dbSNP: rs1555890974
rs1555890974
ACO2 ; POLR3H
C 0.700 CausalMutation CLINVAR Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy. 25351951

2014
dbSNP: rs1555890974
rs1555890974
ACO2 ; POLR3H
C 0.700 CausalMutation CLINVAR Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2. 22405087

2012