Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 80207
Gene Symbol: OPA3
OPA3
CUI: C0574084
Disease: 3-Methylglutaconic aciduria type 3
3-Methylglutaconic aciduria type 3 		0.900 CausalMutation CLINVAR Clinical and molecular genetic findings in autosomal dominant OPA3-related optic neuropathy. 25159689

2015
Entrez Id: 80207
Gene Symbol: OPA3
OPA3
CUI: C0574084
Disease: 3-Methylglutaconic aciduria type 3
3-Methylglutaconic aciduria type 3 		0.900 CausalMutation CLINVAR Atypical presentation of Costeff syndrome-severe psychomotor involvement and electrical status epilepticus during slow wave sleep. 26190011

2015
Entrez Id: 80207
Gene Symbol: OPA3
OPA3
CUI: C0574084
Disease: 3-Methylglutaconic aciduria type 3
3-Methylglutaconic aciduria type 3 		0.900 CausalMutation CLINVAR Costeff syndrome: clinical features and natural history. 25201222

2014
Entrez Id: 80207
Gene Symbol: OPA3
OPA3
CUI: C0574084
Disease: 3-Methylglutaconic aciduria type 3
3-Methylglutaconic aciduria type 3 		0.900 CausalMutation CLINVAR A novel heterozygous OPA3 mutation located in the mitochondrial target sequence results in altered steady-state levels and fragmented mitochondrial network. 24136862

2013
Entrez Id: 80207
Gene Symbol: OPA3
OPA3
CUI: C0574084
Disease: 3-Methylglutaconic aciduria type 3
3-Methylglutaconic aciduria type 3 		0.900 GeneticVariation CLINVAR OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria. 20350831

2010
Entrez Id: 80207
Gene Symbol: OPA3
OPA3
CUI: C0574084
Disease: 3-Methylglutaconic aciduria type 3
3-Methylglutaconic aciduria type 3 		0.900 GeneticVariation CLINVAR Costeff optic atrophy syndrome: new clinical case and novel molecular findings. 18985435

2008
Entrez Id: 80207
Gene Symbol: OPA3
OPA3
CUI: C0574084
Disease: 3-Methylglutaconic aciduria type 3
3-Methylglutaconic aciduria type 3 		0.900 CausalMutation CLINVAR OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract. 15342707

2004
Entrez Id: 80207
Gene Symbol: OPA3
OPA3
CUI: C0574084
Disease: 3-Methylglutaconic aciduria type 3
3-Methylglutaconic aciduria type 3 		0.900 CausalMutation CLINVAR Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews. 11668429

2001