SCO2, synthesis of cytochrome C oxidase 2, 9997

N. diseases: 294; N. variants: 72
Disease: Leigh Disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1352878283
rs1352878283
Entrez Id: 9997;29781
Gene Symbol: SCO2;NCAPH2
SCO2;NCAPH2
CUI: C0023264
Disease:
Leigh Disease 		0.700 GeneticVariation UNIPROT A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. 26741492 2016
dbSNP: rs759452074
rs759452074
Entrez Id: 9997;29781
Gene Symbol: SCO2;NCAPH2
SCO2;NCAPH2
CUI: C0023264
Disease:
Leigh Disease 		0.700 GeneticVariation UNIPROT A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. 26741492 2016