SCO2, synthesis of cytochrome C oxidase 2, 9997

N. diseases: 294; N. variants: 72
Disease: MYOPIA 6 (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs370130010
rs370130010
Entrez Id: 9997;29781
Gene Symbol: SCO2;NCAPH2
SCO2;NCAPH2
CUI: C1837148
Disease:
MYOPIA 6 (disorder) 		0.700 GeneticVariation UNIPROT Cooperation between COA6 and SCO2 in COX2 maturation during cytochrome c oxidase assembly links two mitochondrial cardiomyopathies. 25959673 2015
dbSNP: rs370130010
rs370130010
Entrez Id: 9997;29781
Gene Symbol: SCO2;NCAPH2
SCO2;NCAPH2
CUI: C1837148
Disease:
MYOPIA 6 (disorder) 		0.700 GeneticVariation 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
dbSNP: rs370130010
rs370130010
Entrez Id: 9997;29781
Gene Symbol: SCO2;NCAPH2
SCO2;NCAPH2
CUI: C1837148
Disease:
MYOPIA 6 (disorder) 		0.700 GeneticVariation UNIPROT Mutations in SCO2 are associated with autosomal-dominant high-grade myopia. 23643385 2013