COQ4, coenzyme Q4, 51117

N. diseases: 17; N. variants: 16
Disease: Dysmorphic features ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1045118320
rs1045118320
Entrez Id: 51117
Gene Symbol: COQ4
COQ4
CUI: C0432072
Disease:
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: rs758522459
rs758522459
Entrez Id: 26995;51117
Gene Symbol: TRUB2;COQ4
TRUB2;COQ4
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 GeneticVariation CLINVAR Novel recessive mutations in COQ4 cause severe infantile cardiomyopathy and encephalopathy associated with CoQ10 deficiency. 28540186 2017
dbSNP: rs1045118320
rs1045118320
Entrez Id: 51117
Gene Symbol: COQ4
COQ4
CUI: C0432072
Disease:
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
Entrez Id: 51117
Gene Symbol: COQ4
COQ4
CUI: C0432072
Disease:
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: rs758522459
rs758522459
Entrez Id: 26995;51117
Gene Symbol: TRUB2;COQ4
TRUB2;COQ4
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 GeneticVariation CLINVAR Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy. 26185144 2015
dbSNP: rs758522459
rs758522459
Entrez Id: 26995;51117
Gene Symbol: TRUB2;COQ4
TRUB2;COQ4
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 GeneticVariation CLINVAR COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency. 25658047 2015
dbSNP: rs1045118320
rs1045118320
Entrez Id: 51117
Gene Symbol: COQ4
COQ4
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Genetics of coenzyme q10 deficiency. 25126048 2014
dbSNP: rs758522459
rs758522459
Entrez Id: 26995;51117
Gene Symbol: TRUB2;COQ4
TRUB2;COQ4
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 GeneticVariation CLINVAR Genetics of coenzyme q10 deficiency. 25126048 2014
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: C0432072
Disease:
Dysmorphic features 		C 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 Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency. 22368301 2012
dbSNP: rs758522459
rs758522459
Entrez Id: 26995;51117
Gene Symbol: TRUB2;COQ4
TRUB2;COQ4
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 GeneticVariation CLINVAR Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency. 22368301 2012
dbSNP: rs1045118320
rs1045118320
Entrez Id: 51117
Gene Symbol: COQ4
COQ4
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness. 21540551 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: C0432072
Disease:
Dysmorphic features 		C 0.700 GeneticVariation CLINVAR COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness. 21540551 2011
dbSNP: rs1045118320
rs1045118320
Entrez Id: 51117
Gene Symbol: COQ4
COQ4
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Early coenzyme Q10 supplementation in primary coenzyme Q10 deficiency. 18579827 2008
dbSNP: rs1045118320
rs1045118320
Entrez Id: 51117
Gene Symbol: COQ4
COQ4
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Functional characterization of human COQ4, a gene required for Coenzyme Q10 biosynthesis. 18474229 2008
dbSNP: rs758522459
rs758522459
Entrez Id: 26995;51117
Gene Symbol: TRUB2;COQ4
TRUB2;COQ4
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 GeneticVariation CLINVAR Early coenzyme Q10 supplementation in primary coenzyme Q10 deficiency. 18579827 2008
dbSNP: rs758522459
rs758522459
Entrez Id: 26995;51117
Gene Symbol: TRUB2;COQ4
TRUB2;COQ4
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 GeneticVariation CLINVAR Functional characterization of human COQ4, a gene required for Coenzyme Q10 biosynthesis. 18474229 2008
dbSNP: rs1045118320
rs1045118320
Entrez Id: 51117
Gene Symbol: COQ4
COQ4
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders. 17332895 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
dbSNP: rs758522459
rs758522459
Entrez Id: 26995;51117
Gene Symbol: TRUB2;COQ4
TRUB2;COQ4
CUI: C0432072
Disease:
Dysmorphic features 		C 0.700 GeneticVariation CLINVAR Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders. 17332895 2007
dbSNP: rs758522459
rs758522459
Entrez Id: 26995;51117
Gene Symbol: TRUB2;COQ4
TRUB2;COQ4
CUI: C0432072
Disease:
Dysmorphic features 		C 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 Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: a CoQ10-responsive condition. 16116126 2005