|
| Entrez Id: |
51117 |
| Gene Symbol: |
COQ4 |
COQ4
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Novel recessive mutations in COQ4 cause severe infantile cardiomyopathy and encephalopathy associated with CoQ10 deficiency.
|
28540186 |
2017 |
|
| Entrez Id: |
51117 |
| Gene Symbol: |
COQ4 |
COQ4
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency.
|
25658047 |
2015 |
|
| Entrez Id: |
51117 |
| Gene Symbol: |
COQ4 |
COQ4
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy.
|
26185144 |
2015 |
|
| Entrez Id: |
51117 |
| Gene Symbol: |
COQ4 |
COQ4
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Genetics of coenzyme q10 deficiency.
|
25126048 |
2014 |
|
| Entrez Id: |
51117 |
| Gene Symbol: |
COQ4 |
COQ4
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption.
|
24270420 |
2013 |
|
| Entrez Id: |
51117 |
| Gene Symbol: |
COQ4 |
COQ4
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency.
|
22368301 |
2012 |
|
| Entrez Id: |
51117 |
| Gene Symbol: |
COQ4 |
COQ4
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Coenzyme Q deficiency in muscle.
|
21844807 |
2011 |
|
| Entrez Id: |
51117 |
| Gene Symbol: |
COQ4 |
COQ4
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.
|
21540551 |
2011 |
|
| Entrez Id: |
51117 |
| Gene Symbol: |
COQ4 |
COQ4
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Functional characterization of human COQ4, a gene required for Coenzyme Q10 biosynthesis.
|
18474229 |
2008 |
|
| Entrez Id: |
51117 |
| Gene Symbol: |
COQ4 |
COQ4
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Early coenzyme Q10 supplementation in primary coenzyme Q10 deficiency.
|
18579827 |
2008 |
|
| Entrez Id: |
51117 |
| Gene Symbol: |
COQ4 |
COQ4
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders.
|
17332895 |
2007 |
|
| Entrez Id: |
51117 |
| Gene Symbol: |
COQ4 |
COQ4
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
CoQ10 deficiency diseases in adults.
|
17485248 |
2007 |
|
| Entrez Id: |
51117 |
| Gene Symbol: |
COQ4 |
COQ4
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: a CoQ10-responsive condition.
|
16116126 |
2005 |