COQ4, coenzyme Q4, 51117

N. diseases: 17; N. variants: 16
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs786204770
rs786204770
Entrez Id: 26995;51117
Gene Symbol: TRUB2;COQ4
TRUB2;COQ4
CUI: C4225392
Disease:
COENZYME Q10 DEFICIENCY, PRIMARY, 7 		0.800 GeneticVariation UNIPROT A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. 26741492 2016
dbSNP: rs786204770
rs786204770
Entrez Id: 26995;51117
Gene Symbol: TRUB2;COQ4
TRUB2;COQ4
CUI: C4225392
Disease:
COENZYME Q10 DEFICIENCY, PRIMARY, 7 		0.800 GeneticVariation UNIPROT COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency. 25658047 2015
dbSNP: rs786204770
rs786204770
Entrez Id: 26995;51117
Gene Symbol: TRUB2;COQ4
TRUB2;COQ4
CUI: C4225392
Disease:
COENZYME Q10 DEFICIENCY, PRIMARY, 7 		C 0.800 CausalMutation CLINVAR