Gene: COA8 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 84334
Gene Symbol: COA8
COA8 		0.720 Biomarker disease BEFREE Patients deficient in COA8 show specific COX deficiency with distinctive neuroimaging features, i.e., cavitating leukodystrophy. 31555154 2019
Entrez Id: 84334
Gene Symbol: COA8
COA8 		0.720 GeneticVariation disease UNIPROT APOPT1/COA8 assists COX assembly and is oppositely regulated by UPS and ROS. 30552096 2019
Entrez Id: 84334
Gene Symbol: COA8
COA8 		0.720 GeneticVariation disease 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 		0.720 Biomarker disease GENOMICS_ENGLAND 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
Entrez Id: 84334
Gene Symbol: COA8
COA8 		0.720 GeneticVariation disease 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
Entrez Id: 84334
Gene Symbol: COA8
COA8 		0.720 GeneticVariation disease BEFREE 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
Entrez Id: 84334
Gene Symbol: COA8
COA8 		0.720 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 84334
Gene Symbol: COA8
COA8 		0.720 CausalMutation disease CLINVAR
Entrez Id: 84334
Gene Symbol: COA8
COA8 		0.720 Biomarker disease CTD_human