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 		0.800 GeneticVariation UNIPROT A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. 26741492 2016
dbSNP: rs143441644
rs143441644
Entrez Id: 51117
Gene Symbol: COQ4
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: rs774395996
rs774395996
Entrez Id: 51117
Gene Symbol: COQ4
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: 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: 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: rs141228574
rs141228574
Entrez Id: 51117
Gene Symbol: COQ4
COQ4
CUI: C0025362
Disease:
Mental Retardation 		0.010 GeneticVariation BEFREE Here, we report a four-year-old girl diagnosed with minor mental retardation and lethal rhabdomyolysis harboring a heterozygous mutation (c.483G > C (E161D)) in COQ4. 28472853 2017
dbSNP: rs141228574
rs141228574
Entrez Id: 51117
Gene Symbol: COQ4
COQ4
CUI: C3714756
Disease:
Intellectual Disability 		0.010 GeneticVariation BEFREE Here, we report a four-year-old girl diagnosed with minor mental retardation and lethal rhabdomyolysis harboring a heterozygous mutation (c.483G > C (E161D)) in COQ4. 28472853 2017
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: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Genetics of coenzyme q10 deficiency. 25126048 2014
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 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 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: C0000772
Disease:
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
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 Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency. 22368301 2012
dbSNP: rs1045118320
rs1045118320
Entrez Id: 51117
Gene Symbol: COQ4
COQ4
CUI: C0000772
Disease:
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
Entrez Id: 51117
Gene Symbol: COQ4
COQ4
CUI: C0000772
Disease:
Multiple congenital anomalies 		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: C0000772
Disease:
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
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: C4225392
Disease:
COENZYME Q10 DEFICIENCY, PRIMARY, 7 		A 0.700 CausalMutation CLINVAR
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: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 GeneticVariation CLINVAR Genetics of coenzyme q10 deficiency. 25126048 2014
dbSNP: rs1045118320
rs1045118320
Entrez Id: 51117
Gene Symbol: COQ4
COQ4
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 GeneticVariation CLINVAR Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: a CoQ10-responsive condition. 16116126 2005
dbSNP: rs1045118320
rs1045118320
Entrez Id: 51117
Gene Symbol: COQ4
COQ4
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 GeneticVariation CLINVAR COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency. 25658047 2015