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: C0027092
Disease: Myopia
Myopia
0.420 Biomarker disease BEFREE No other disease-causing mutation was found in 101 extremely myopic Japanese patients, suggesting that SCO2 plays a limited role in Japanese extreme myopia. 27052445 2016
CUI: C0027092
Disease: Myopia
Myopia
0.420 GermlineCausalMutation disease ORPHANET Messenger RNA levels of SCO2 were significantly downregulated in myopic mouse retinae. 23643385 2013
CUI: C0027092
Disease: Myopia
Myopia
0.420 GeneticVariation disease BEFREE The MYP6 locus is likely to contain susceptibility gene(s) for myopia, but none has yet been identified. 22792142 2012
CUI: C0027092
Disease: Myopia
Myopia
0.420 Biomarker disease HPO