COQ4, coenzyme Q4, 51117

N. diseases: 17; N. variants: 16
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225392
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7
COENZYME Q10 DEFICIENCY, PRIMARY, 7 		0.700 GeneticVariation disease UNIPROT A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. 26741492 2016
CUI: C4225392
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7
COENZYME Q10 DEFICIENCY, PRIMARY, 7 		0.700 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C4225392
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7
COENZYME Q10 DEFICIENCY, PRIMARY, 7 		0.700 Biomarker disease GENOMICS_ENGLAND COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency. 25658047 2015
CUI: C4225392
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7
COENZYME Q10 DEFICIENCY, PRIMARY, 7 		0.700 GeneticVariation disease UNIPROT COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency. 25658047 2015
CUI: C4225392
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7
COENZYME Q10 DEFICIENCY, PRIMARY, 7 		0.700 Biomarker disease GENOMICS_ENGLAND COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency. 25658047 2015
CUI: C4225392
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7
COENZYME Q10 DEFICIENCY, PRIMARY, 7 		0.700 CausalMutation disease CLINVAR COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency. 25658047 2015
CUI: C4225392
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7
COENZYME Q10 DEFICIENCY, PRIMARY, 7 		0.700 GeneticVariation disease CLINVAR Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy. 26185144 2015
CUI: C4225392
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7
COENZYME Q10 DEFICIENCY, PRIMARY, 7 		0.700 CausalMutation disease CLINVAR Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy. 26185144 2015
CUI: C4225392
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7
COENZYME Q10 DEFICIENCY, PRIMARY, 7 		0.700 GermlineCausalMutation disease ORPHANET COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency. 25658047 2015
CUI: C4225392
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7
COENZYME Q10 DEFICIENCY, PRIMARY, 7 		0.700 GeneticVariation disease CLINVAR COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency. 25658047 2015
CUI: C4225392
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7
COENZYME Q10 DEFICIENCY, PRIMARY, 7 		0.700 GermlineCausalMutation disease ORPHANET Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy. 26185144 2015
CUI: C4225392
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7
COENZYME Q10 DEFICIENCY, PRIMARY, 7 		0.700 Biomarker disease GENOMICS_ENGLAND Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy. 26185144 2015
CUI: C4225392
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7
COENZYME Q10 DEFICIENCY, PRIMARY, 7 		0.700 Biomarker disease CTD_human
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation group CLINVAR Novel recessive mutations in COQ4 cause severe infantile cardiomyopathy and encephalopathy associated with CoQ10 deficiency. 28540186 2017
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR Novel recessive mutations in COQ4 cause severe infantile cardiomyopathy and encephalopathy associated with CoQ10 deficiency. 28540186 2017
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation group CLINVAR COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency. 25658047 2015
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation group CLINVAR Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy. 26185144 2015
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency. 25658047 2015
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy. 26185144 2015
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation group CLINVAR Genetics of coenzyme q10 deficiency. 25126048 2014
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR Genetics of coenzyme q10 deficiency. 25126048 2014
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation group CLINVAR ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. 24270420 2013
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption. 24270420 2013
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.100 GeneticVariation group CLINVAR Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency. 22368301 2012
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.100 GeneticVariation disease CLINVAR Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency. 22368301 2012