Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 27235
Gene Symbol: COQ2
COQ2
CUI: C3551954
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1
COENZYME Q10 DEFICIENCY, PRIMARY, 1 		0.700 GeneticVariation UNIPROT Further phenotypic heterogeneity of CoQ10 deficiency associated with steroid resistant nephrotic syndrome and novel COQ2 and COQ6 variants. 28044327

2017
Entrez Id: 27235
Gene Symbol: COQ2
COQ2
CUI: C3551954
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1
COENZYME Q10 DEFICIENCY, PRIMARY, 1 		0.700 GeneticVariation UNIPROT The COQ2 genotype predicts the severity of coenzyme Q10 deficiency. 27493029

2016
Entrez Id: 27235
Gene Symbol: COQ2
COQ2
CUI: C3551954
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1
COENZYME Q10 DEFICIENCY, PRIMARY, 1 		0.700 GeneticVariation UNIPROT Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure. 25564041

2015
Entrez Id: 27235
Gene Symbol: COQ2
COQ2
CUI: C3551954
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1
COENZYME Q10 DEFICIENCY, PRIMARY, 1 		0.700 GeneticVariation UNIPROT A novel mutation in COQ2 leading to fatal infantile multisystem disease. 23343605

2013
Entrez Id: 27235
Gene Symbol: COQ2
COQ2
CUI: C3551954
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1
COENZYME Q10 DEFICIENCY, PRIMARY, 1 		0.700 GeneticVariation UNIPROT Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis. 17374725

2007
Entrez Id: 27235
Gene Symbol: COQ2
COQ2
CUI: C3551954
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1
COENZYME Q10 DEFICIENCY, PRIMARY, 1 		0.700 GeneticVariation UNIPROT COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement. 17855635

2007
Entrez Id: 27235
Gene Symbol: COQ2
COQ2
CUI: C3551954
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1
COENZYME Q10 DEFICIENCY, PRIMARY, 1 		0.700 GeneticVariation UNIPROT A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency. 16400613

2006