Gene: COX6B1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1340
Gene Symbol: COX6B1
COX6B1 		0.700 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 1340
Gene Symbol: COX6B1
COX6B1 		0.700 GermlineCausalMutation disease ORPHANET We hereby report a case of isolated COX deficiency manifesting with encephalomyopathy, hydrocephalus and hypertropic cardiomyopathy due to a missense p.R20C mutation in the COX6B1 gene, which encodes an integral, nuclear-encoded COX subunit. 24781756 2015
Entrez Id: 1340
Gene Symbol: COX6B1
COX6B1 		0.700 GeneticVariation disease UNIPROT Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase. 18499082 2008
Entrez Id: 1340
Gene Symbol: COX6B1
COX6B1 		0.700 GermlineCausalMutation disease ORPHANET Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase. 18499082 2008
Entrez Id: 1340
Gene Symbol: COX6B1
COX6B1 		0.700 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 1340
Gene Symbol: COX6B1
COX6B1 		0.700 CausalMutation disease CLINVAR
Entrez Id: 1340
Gene Symbol: COX6B1
COX6B1 		0.700 Biomarker disease CTD_human