Variant: rs1045118320 

    present in Gene: COQ4
    present in Chromosome: 9
    Position on Chromosome: 128332219
    Alleles of this Variant: C/A

rs1045118320 in COQ4 gene and Dysmorphic features PMID 24270420 2013 ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption.

PMID 21540551 2011 COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.

PMID 17485248 2007 CoQ10 deficiency diseases in adults.

PMID 17332895 2007 Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders.

PMID 18579827 2008 Early coenzyme Q10 supplementation in primary coenzyme Q10 deficiency.

PMID 28540186 2017 Novel recessive mutations in COQ4 cause severe infantile cardiomyopathy and encephalopathy associated with CoQ10 deficiency.

PMID 21844807 2011 Coenzyme Q deficiency in muscle.

PMID 22368301 2012 Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency.

PMID 16116126 2005 Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: a CoQ10-responsive condition.

PMID 26185144 2015 Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy.

PMID 25126048 2014 Genetics of coenzyme q10 deficiency.

PMID 25658047 2015 COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency.

PMID 18474229 2008 Functional characterization of human COQ4, a gene required for Coenzyme Q10 biosynthesis.

rs1045118320 in COQ4 gene and Multiple congenital anomalies PMID 17332895 2007 Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders.

PMID 16116126 2005 Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: a CoQ10-responsive condition.

PMID 21844807 2011 Coenzyme Q deficiency in muscle.

PMID 26185144 2015 Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy.

PMID 28540186 2017 Novel recessive mutations in COQ4 cause severe infantile cardiomyopathy and encephalopathy associated with CoQ10 deficiency.

PMID 22368301 2012 Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency.

PMID 18579827 2008 Early coenzyme Q10 supplementation in primary coenzyme Q10 deficiency.

PMID 18474229 2008 Functional characterization of human COQ4, a gene required for Coenzyme Q10 biosynthesis.

PMID 24270420 2013 ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption.

PMID 21540551 2011 COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.

PMID 25658047 2015 COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency.

PMID 17485248 2007 CoQ10 deficiency diseases in adults.

PMID 25126048 2014 Genetics of coenzyme q10 deficiency.