ACO2, aconitase 2, 50

N. diseases: 74; N. variants: 14
Disease: OPTIC ATROPHY 9 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs141772938
rs141772938
Entrez Id: 50
Gene Symbol: ACO2
ACO2
CUI: C4225384
Disease:
OPTIC ATROPHY 9 		0.800 GeneticVariation UNIPROT Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy. 25351951 2014
dbSNP: rs752034900
rs752034900
Entrez Id: 50;171568
Gene Symbol: ACO2;POLR3H
ACO2;POLR3H
CUI: C4225384
Disease:
OPTIC ATROPHY 9 		0.800 GeneticVariation UNIPROT Mutations in the tricarboxylic acid cycle enzyme, aconitase 2, cause either isolated or syndromic optic neuropathy with encephalopathy and cerebellar atrophy. 25351951 2014
dbSNP: rs141772938
rs141772938
Entrez Id: 50
Gene Symbol: ACO2
ACO2
CUI: C4225384
Disease:
OPTIC ATROPHY 9 		G 0.800 CausalMutation CLINVAR
dbSNP: rs752034900
rs752034900
Entrez Id: 50;171568
Gene Symbol: ACO2;POLR3H
ACO2;POLR3H
CUI: C4225384
Disease:
OPTIC ATROPHY 9 		A 0.800 CausalMutation CLINVAR