SCO2, synthesis of cytochrome C oxidase 2, 9997

N. diseases: 294; N. variants: 72
Disease: Stridor ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74315511
rs74315511
Entrez Id: 9997;29781
Gene Symbol: SCO2;NCAPH2
SCO2;NCAPH2
CUI: C0038450
Disease:
Stridor 		0.010 GeneticVariation BEFREE Thirteen p.E140K homozygotes presented in infancy with floppiness and remarkable stridor. 19879173 2010