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: 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: rs143441644
rs143441644
Entrez Id: 51117
Gene Symbol: COQ4
COQ4
CUI: C4225392
Disease:
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
Entrez Id: 51117
Gene Symbol: COQ4
COQ4
CUI: C4225392
Disease:
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
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: 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: 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: 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: 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: C0000772
Disease:
Multiple congenital anomalies 		C 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: 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 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: rs141303335
rs141303335
Entrez Id: 51117
Gene Symbol: COQ4
COQ4
CUI: C4225392
Disease:
COENZYME Q10 DEFICIENCY, PRIMARY, 7 		G 0.700 GeneticVariation CLINVAR COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency. 25658047 2015
dbSNP: rs1554796655
rs1554796655
Entrez Id: 26995;51117
Gene Symbol: TRUB2;COQ4
TRUB2;COQ4
CUI: C4225392
Disease:
COENZYME Q10 DEFICIENCY, PRIMARY, 7 		CG 0.700 CausalMutation CLINVAR COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency. 25658047 2015
dbSNP: rs1554796655
rs1554796655
Entrez Id: 26995;51117
Gene Symbol: TRUB2;COQ4
TRUB2;COQ4
CUI: C4225392
Disease:
COENZYME Q10 DEFICIENCY, PRIMARY, 7 		CG 0.700 CausalMutation 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: C0000772
Disease:
Multiple congenital anomalies 		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 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: C0000772
Disease:
Multiple congenital anomalies 		C 0.700 GeneticVariation CLINVAR COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency. 25658047 2015