Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4514
Gene Symbol: COX3
COX3
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.610 CausalMutation CLINVAR

Entrez Id: 4514
Gene Symbol: COX3
COX3
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.400 CausalMutation CLINVAR

Entrez Id: 4514
Gene Symbol: COX3
COX3
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.120 CausalMutation CLINVAR Molecular-clinical correlation in a family with a novel heteroplasmic Leigh syndrome missense mutation in the mitochondrial cytochrome c oxidase III gene. 20525945

2011
Entrez Id: 4514
Gene Symbol: COX3
COX3
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.120 CausalMutation CLINVAR A novel frameshift mutation of the mtDNA COIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by Leigh-like syndrome. 11063732

2000
Entrez Id: 4514
Gene Symbol: COX3
COX3
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.100 GeneticVariation CLINVAR In silico analysis for predicting pathogenicity of five unclassified mitochondrial DNA mutations associated with mitochondrial cytopathies' phenotypes. 28027978

2017
Entrez Id: 4514
Gene Symbol: COX3
COX3
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.100 GeneticVariation CLINVAR In silico analysis for predicting pathogenicity of five unclassified mitochondrial DNA mutations associated with mitochondrial cytopathies' phenotypes. 28027978

2017
Entrez Id: 4514
Gene Symbol: COX3
COX3
CUI: C1852373
Disease: Mitochondrial encephalopathy
Mitochondrial encephalopathy 		0.100 GeneticVariation CLINVAR In silico analysis for predicting pathogenicity of five unclassified mitochondrial DNA mutations associated with mitochondrial cytopathies' phenotypes. 28027978

2017
Entrez Id: 4514
Gene Symbol: COX3
COX3
CUI: C3151898
Disease: MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT
MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT 		0.100 CausalMutation CLINVAR Childhood onset mitochondrial myopathy and lactic acidosis caused by a stop mutation in the mitochondrial cytochrome c oxidase III gene. 12414820

2002
Entrez Id: 4514
Gene Symbol: COX3
COX3
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		0.100 CausalMutation CLINVAR

Entrez Id: 4514
Gene Symbol: COX3
COX3
CUI: C4017626
Disease: MITOCHONDRIAL COMPLEX IV DEFICIENCY WITH RECURRENT MYOGLOBINURIA
MITOCHONDRIAL COMPLEX IV DEFICIENCY WITH RECURRENT MYOGLOBINURIA 		0.100 CausalMutation CLINVAR

Entrez Id: 4514
Gene Symbol: COX3
COX3
CUI: C4703464
Disease: Abnormal aortic valve physiology
Abnormal aortic valve physiology 		0.100 GeneticVariation CLINVAR

Entrez Id: 4514
Gene Symbol: COX3
COX3
CUI: C4703464
Disease: Abnormal aortic valve physiology
Abnormal aortic valve physiology 		0.100 CausalMutation CLINVAR