SCO2, synthesis of cytochrome C oxidase 2, 9997

N. diseases: 294; N. variants: 72
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1837148
Disease: MYOPIA 6 (disorder)
MYOPIA 6 (disorder)
0.700 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C1837148
Disease: MYOPIA 6 (disorder)
MYOPIA 6 (disorder)
0.700 GeneticVariation disease UNIPROT Cooperation between COA6 and SCO2 in COX2 maturation during cytochrome c oxidase assembly links two mitochondrial cardiomyopathies. 25959673 2015
CUI: C1837148
Disease: MYOPIA 6 (disorder)
MYOPIA 6 (disorder)
0.700 GeneticVariation disease UNIPROT Detection of mutations in LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 in 298 families with early-onset high myopia by exome sequencing. 25525168 2014
CUI: C1837148
Disease: MYOPIA 6 (disorder)
MYOPIA 6 (disorder)
0.700 GeneticVariation disease UNIPROT Mutations in SCO2 are associated with autosomal-dominant high-grade myopia. 23643385 2013
CUI: C1837148
Disease: MYOPIA 6 (disorder)
MYOPIA 6 (disorder)
0.700 Biomarker disease CTD_human
CUI: C1837148
Disease: MYOPIA 6 (disorder)
MYOPIA 6 (disorder)
0.700 CausalMutation disease CLINVAR
CUI: C1837148
Disease: MYOPIA 6 (disorder)
MYOPIA 6 (disorder)
0.700 Biomarker disease GENOMICS_ENGLAND