COQ4, coenzyme Q4, 51117

N. diseases: 17; N. variants: 16
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs143441644
rs143441644
Entrez Id: 51117
Gene Symbol: COQ4
COQ4
CUI: C4225392
Disease:
COENZYME Q10 DEFICIENCY, PRIMARY, 7 		T 0.800 CausalMutation CLINVAR
dbSNP: rs774395996
rs774395996
Entrez Id: 51117
Gene Symbol: COQ4
COQ4
CUI: C4225392
Disease:
COENZYME Q10 DEFICIENCY, PRIMARY, 7 		G 0.800 CausalMutation CLINVAR
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
dbSNP: rs1045118320
rs1045118320
Entrez Id: 51117
Gene Symbol: COQ4
COQ4
CUI: C4225392
Disease:
COENZYME Q10 DEFICIENCY, PRIMARY, 7 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1163170578
rs1163170578
Entrez Id: 51117
Gene Symbol: COQ4
COQ4
CUI: C4225392
Disease:
COENZYME Q10 DEFICIENCY, PRIMARY, 7 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs747779231
rs747779231
Entrez Id: 51117
Gene Symbol: COQ4
COQ4
CUI: C4225392
Disease:
COENZYME Q10 DEFICIENCY, PRIMARY, 7 		C 0.700 CausalMutation CLINVAR
dbSNP: rs758522459
rs758522459
Entrez Id: 26995;51117
Gene Symbol: TRUB2;COQ4
TRUB2;COQ4
CUI: C4225392
Disease:
COENZYME Q10 DEFICIENCY, PRIMARY, 7 		C 0.700 CausalMutation CLINVAR
dbSNP: rs766317663
rs766317663
Entrez Id: 26995;51117
Gene Symbol: TRUB2;COQ4
TRUB2;COQ4
CUI: C4225392
Disease:
COENZYME Q10 DEFICIENCY, PRIMARY, 7 		T 0.700 CausalMutation CLINVAR
dbSNP: rs775607037
rs775607037
Entrez Id: 51117
Gene Symbol: COQ4
COQ4
CUI: C4225392
Disease:
COENZYME Q10 DEFICIENCY, PRIMARY, 7 		T 0.700 CausalMutation CLINVAR
dbSNP: rs786204771
rs786204771
Entrez Id: 51117
Gene Symbol: COQ4
COQ4
CUI: C4225392
Disease:
COENZYME Q10 DEFICIENCY, PRIMARY, 7 		C 0.700 CausalMutation CLINVAR
dbSNP: rs886040973
rs886040973
Entrez Id: 26995;51117
Gene Symbol: TRUB2;COQ4
TRUB2;COQ4
CUI: C4225392
Disease:
COENZYME Q10 DEFICIENCY, PRIMARY, 7 		AA 0.700 CausalMutation CLINVAR
dbSNP: rs143441644
rs143441644
Entrez Id: 51117
Gene Symbol: COQ4
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: rs774395996
rs774395996
Entrez Id: 51117
Gene Symbol: COQ4
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 A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. 26741492 2016
dbSNP: rs1045118320
rs1045118320
Entrez Id: 51117
Gene Symbol: COQ4
COQ4
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 GeneticVariation CLINVAR ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. 24270420 2013
dbSNP: rs1045118320
rs1045118320
Entrez Id: 51117
Gene Symbol: COQ4
COQ4
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. 24270420 2013
dbSNP: rs758522459
rs758522459
Entrez Id: 26995;51117
Gene Symbol: TRUB2;COQ4
TRUB2;COQ4
CUI: C0000772
Disease:
Multiple congenital anomalies 		C 0.700 GeneticVariation CLINVAR ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. 24270420 2013
dbSNP: rs758522459
rs758522459
Entrez Id: 26995;51117
Gene Symbol: TRUB2;COQ4
TRUB2;COQ4
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 GeneticVariation CLINVAR ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. 24270420 2013
dbSNP: rs776825296
rs776825296
Entrez Id: 51117
Gene Symbol: COQ4
COQ4
CUI: C0023264
Disease:
Leigh Disease 		0.010 GeneticVariation BEFREE Clinical phenotype, in silico and biomedical analyses, and intervention for an East Asian population-specific c.370G>A (p.G124S) COQ4 mutation in a Chinese family with CoQ10 deficiency-associated Leigh syndrome. 30659264 2019
dbSNP: rs1045118320
rs1045118320
Entrez Id: 51117
Gene Symbol: COQ4
COQ4
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 GeneticVariation CLINVAR Coenzyme Q deficiency in muscle. 21844807 2011
dbSNP: rs1045118320
rs1045118320
Entrez Id: 51117
Gene Symbol: COQ4
COQ4
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Coenzyme Q deficiency in muscle. 21844807 2011
dbSNP: rs758522459
rs758522459
Entrez Id: 26995;51117
Gene Symbol: TRUB2;COQ4
TRUB2;COQ4
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 GeneticVariation CLINVAR Coenzyme Q deficiency in muscle. 21844807 2011
dbSNP: rs758522459
rs758522459
Entrez Id: 26995;51117
Gene Symbol: TRUB2;COQ4
TRUB2;COQ4
CUI: C0000772
Disease:
Multiple congenital anomalies 		C 0.700 GeneticVariation CLINVAR Coenzyme Q deficiency in muscle. 21844807 2011
dbSNP: rs1045118320
rs1045118320
Entrez Id: 51117
Gene Symbol: COQ4
COQ4
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 GeneticVariation CLINVAR CoQ10 deficiency diseases in adults. 17485248 2007
dbSNP: rs1045118320
rs1045118320
Entrez Id: 51117
Gene Symbol: COQ4
COQ4
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR CoQ10 deficiency diseases in adults. 17485248 2007