Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 51004
Gene Symbol: COQ6
COQ6
0.330 GeneticVariation disease BEFREE Because we could detect variants in COQ6 and could start treatment by coenzyme Q10 (CoQ10) in his very early stage of SRNS, the patient achieved complete remission. 30584653 2019
Entrez Id: 51004
Gene Symbol: COQ6
COQ6
0.330 GeneticVariation disease BEFREE We recently reported that individuals with mutations in COQ6, a coenzyme Q (also called CoQ<sub>10</sub>, CoQ, or ubiquinone) biosynthesis pathway enzyme, develop SRNS with sensorineural deafness, and demonstrated the beneficial effect of CoQ for maintenace of kidney function. 30737270 2019
Entrez Id: 51004
Gene Symbol: COQ6
COQ6
0.330 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 51004
Gene Symbol: COQ6
COQ6
0.330 Biomarker disease BEFREE In human podocytes, ADCK4 interacted with members of the CoQ10 biosynthesis pathway, including COQ6, which has been linked with SRNS and COQ7. 24270420 2013
Entrez Id: 51004
Gene Symbol: COQ6
COQ6
0.330 Biomarker disease GENOMICS_ENGLAND COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness. 21540551 2011