Source: ANIMAL_MODELS

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 Biomarker MGD To address this, we have characterized the metabolic phenotype of a mouse model for Costeff syndrome, in which a point mutation in the mitochondrial membrane protein Opa3 impairs mitochondrial activity. 22869679

2012
Entrez Id: 80207
Gene Symbol: OPA3
OPA3
CUI: C0574084
Disease: 3-Methylglutaconic aciduria type 3
3-Methylglutaconic aciduria type 3 		0.900 Biomarker MGD A missense mutation in the murine Opa3 gene models human Costeff syndrome. 18222992

2008