Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 84334
Gene Symbol: COA8
COA8
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.720 GeneticVariation UNIPROT APOPT1/COA8 assists COX assembly and is oppositely regulated by UPS and ROS. 30552096

2019
Entrez Id: 84334
Gene Symbol: COA8
COA8
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.720 GeneticVariation UNIPROT Cavitating Leukoencephalopathy With Posterior Predominance Caused by a Deletion in the APOPT1 Gene in an Indian Boy. 29577824

2018
Entrez Id: 84334
Gene Symbol: COA8
COA8
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency 		0.720 GeneticVariation UNIPROT Whole-exome sequencing led to the identification of APOPT1 mutations in two Italian sisters and in a third Turkish individual presenting severe COX deficiency. 25175347

2014