ACO2, aconitase 2, 50

N. diseases: 74; N. variants: 14
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: rs786200924
rs786200924
Entrez Id: 50
Gene Symbol: ACO2
ACO2
CUI: C3281192
Disease:
INFANTILE CEREBELLAR-RETINAL DEGENERATION 		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: rs786200924
rs786200924
Entrez Id: 50
Gene Symbol: ACO2
ACO2
CUI: C3281192
Disease:
INFANTILE CEREBELLAR-RETINAL DEGENERATION 		0.800 GeneticVariation UNIPROT Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2. 22405087 2012
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
dbSNP: rs786200924
rs786200924
Entrez Id: 50
Gene Symbol: ACO2
ACO2
CUI: C3281192
Disease:
INFANTILE CEREBELLAR-RETINAL DEGENERATION 		G 0.800 CausalMutation CLINVAR
dbSNP: rs786204828
rs786204828
Entrez Id: 50
Gene Symbol: ACO2
ACO2
CUI: C3281192
Disease:
INFANTILE CEREBELLAR-RETINAL DEGENERATION 		0.800 GeneticVariation UNIPROT
dbSNP: rs786204828
rs786204828
Entrez Id: 50
Gene Symbol: ACO2
ACO2
CUI: C3281192
Disease:
INFANTILE CEREBELLAR-RETINAL DEGENERATION 		A 0.800 CausalMutation CLINVAR
dbSNP: rs786204829
rs786204829
Entrez Id: 50;171568
Gene Symbol: ACO2;POLR3H
ACO2;POLR3H
CUI: C3281192
Disease:
INFANTILE CEREBELLAR-RETINAL DEGENERATION 		0.800 GeneticVariation UNIPROT
dbSNP: rs786204829
rs786204829
Entrez Id: 50;171568
Gene Symbol: ACO2;POLR3H
ACO2;POLR3H
CUI: C3281192
Disease:
INFANTILE CEREBELLAR-RETINAL DEGENERATION 		C 0.800 CausalMutation CLINVAR
dbSNP: rs9611602
rs9611602
Entrez Id: 50
Gene Symbol: ACO2
ACO2
CUI: C0035242
Disease:
Respiratory Tract Diseases 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs117078955
rs117078955
Entrez Id: 50
Gene Symbol: ACO2
ACO2
CUI: C0678222
Disease:
Breast Carcinoma 		T 0.700 GeneticVariation GWASCAT Association analysis identifies 65 new breast cancer risk loci. 29059683 2017
dbSNP: rs150129663
rs150129663
Entrez Id: 50
Gene Symbol: ACO2
ACO2
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 GeneticVariation CLINVAR Increased Survival and Partly Preserved Cognition in a Patient With ACO2-Related Disease Secondary to a Novel Variant. 28545339 2017
dbSNP: rs1555890974
rs1555890974
Entrez Id: 50;171568
Gene Symbol: ACO2;POLR3H
ACO2;POLR3H
CUI: C0026650
Disease:
Movement Disorders 		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: rs150129663
rs150129663
Entrez Id: 50
Gene Symbol: ACO2
ACO2
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 GeneticVariation CLINVAR Functional cellular analyses reveal energy metabolism defect and mitochondrial DNA depletion in a case of mitochondrial aconitase deficiency. 26992325 2016
dbSNP: rs1555890974
rs1555890974
Entrez Id: 50;171568
Gene Symbol: ACO2;POLR3H
ACO2;POLR3H
CUI: C0026650
Disease:
Movement Disorders 		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: rs727563
rs727563
Entrez Id: 50
Gene Symbol: ACO2
ACO2
CUI: C0010346
Disease:
Crohn Disease 		G 0.700 GeneticVariation GWASCAT Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. 26192919 2015
dbSNP: rs150129663
rs150129663
Entrez Id: 50
Gene Symbol: ACO2
ACO2
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 GeneticVariation 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
Entrez Id: 50;171568
Gene Symbol: ACO2;POLR3H
ACO2;POLR3H
CUI: C0026650
Disease:
Movement Disorders 		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: rs150129663
rs150129663
Entrez Id: 50
Gene Symbol: ACO2
ACO2
CUI: C0026650
Disease:
Movement Disorders 		T 0.700 GeneticVariation CLINVAR Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2. 22405087 2012
dbSNP: rs1555890974
rs1555890974
Entrez Id: 50;171568
Gene Symbol: ACO2;POLR3H
ACO2;POLR3H
CUI: C0026650
Disease:
Movement Disorders 		C 0.700 CausalMutation CLINVAR Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2. 22405087 2012
dbSNP: rs1114167284
rs1114167284
Entrez Id: 50;171568
Gene Symbol: ACO2;POLR3H
ACO2;POLR3H
CUI: C3281192
Disease:
INFANTILE CEREBELLAR-RETINAL DEGENERATION 		A 0.700 CausalMutation CLINVAR
dbSNP: rs375761361
rs375761361
Entrez Id: 50;171568
Gene Symbol: ACO2;POLR3H
ACO2;POLR3H
CUI: C4022919
Disease:
Appendicular hypotonia 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs375761361
rs375761361
Entrez Id: 50;171568
Gene Symbol: ACO2;POLR3H
ACO2;POLR3H
CUI: C0452138
Disease:
Sensorineural hearing loss, bilateral 		T 0.700 GeneticVariation CLINVAR