Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs143441644
rs143441644
COQ4
CUI: C4225392
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7
COENZYME Q10 DEFICIENCY, PRIMARY, 7 		T 0.800 GeneticVariation CLINVAR COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency. 25658047

2015
dbSNP: rs143441644
rs143441644
COQ4
CUI: C4225392
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7
COENZYME Q10 DEFICIENCY, PRIMARY, 7 		T 0.800 GeneticVariation CLINVAR Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy. 26185144

2015
dbSNP: rs143441644
rs143441644
COQ4
CUI: C4225392
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7
COENZYME Q10 DEFICIENCY, PRIMARY, 7 		T 0.800 CausalMutation CLINVAR

dbSNP: rs774395996
rs774395996
COQ4
CUI: C4225392
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7
COENZYME Q10 DEFICIENCY, PRIMARY, 7 		G 0.800 CausalMutation CLINVAR

dbSNP: rs786204770
rs786204770
TRUB2 ; COQ4
CUI: C4225392
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7
COENZYME Q10 DEFICIENCY, PRIMARY, 7 		C 0.800 CausalMutation CLINVAR

dbSNP: rs1045118320
rs1045118320
COQ4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Novel recessive mutations in COQ4 cause severe infantile cardiomyopathy and encephalopathy associated with CoQ10 deficiency. 28540186

2017
dbSNP: rs1045118320
rs1045118320
COQ4
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		A 0.700 GeneticVariation CLINVAR Novel recessive mutations in COQ4 cause severe infantile cardiomyopathy and encephalopathy associated with CoQ10 deficiency. 28540186

2017
dbSNP: rs1045118320
rs1045118320
COQ4
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		A 0.700 GeneticVariation CLINVAR COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency. 25658047

2015
dbSNP: rs1045118320
rs1045118320
COQ4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency. 25658047

2015
dbSNP: rs1045118320
rs1045118320
COQ4
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		A 0.700 GeneticVariation CLINVAR Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy. 26185144

2015
dbSNP: rs1045118320
rs1045118320
COQ4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy. 26185144

2015
dbSNP: rs1045118320
rs1045118320
COQ4
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		A 0.700 GeneticVariation CLINVAR Genetics of coenzyme q10 deficiency. 25126048

2014
dbSNP: rs1045118320
rs1045118320
COQ4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Genetics of coenzyme q10 deficiency. 25126048

2014
dbSNP: rs1045118320
rs1045118320
COQ4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. 24270420

2013
dbSNP: rs1045118320
rs1045118320
COQ4
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		A 0.700 GeneticVariation CLINVAR ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. 24270420

2013
dbSNP: rs1045118320
rs1045118320
COQ4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency. 22368301

2012
dbSNP: rs1045118320
rs1045118320
COQ4
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		A 0.700 GeneticVariation CLINVAR Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency. 22368301

2012
dbSNP: rs1045118320
rs1045118320
COQ4
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		A 0.700 GeneticVariation CLINVAR Coenzyme Q deficiency in muscle. 21844807

2011
dbSNP: rs1045118320
rs1045118320
COQ4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness. 21540551

2011
dbSNP: rs1045118320
rs1045118320
COQ4
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		A 0.700 GeneticVariation CLINVAR COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness. 21540551

2011
dbSNP: rs1045118320
rs1045118320
COQ4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Coenzyme Q deficiency in muscle. 21844807

2011
dbSNP: rs1045118320
rs1045118320
COQ4
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		A 0.700 GeneticVariation CLINVAR Functional characterization of human COQ4, a gene required for Coenzyme Q10 biosynthesis. 18474229

2008
dbSNP: rs1045118320
rs1045118320
COQ4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Functional characterization of human COQ4, a gene required for Coenzyme Q10 biosynthesis. 18474229

2008
dbSNP: rs1045118320
rs1045118320
COQ4
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		A 0.700 GeneticVariation CLINVAR Early coenzyme Q10 supplementation in primary coenzyme Q10 deficiency. 18579827

2008
dbSNP: rs1045118320
rs1045118320
COQ4
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Early coenzyme Q10 supplementation in primary coenzyme Q10 deficiency. 18579827

2008