COQ2, coenzyme Q2, polyprenyltransferase, 27235

N. diseases: 139; N. variants: 14
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome
0.130 Biomarker group BEFREE COQ2 nephropathy should be suspected in patients presenting with nephrotic syndrome, although less common than disease due to mutations in NPHS1, NPHS2, and WT1. 29637272 2018
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome
0.130 Biomarker group BEFREE In contrast to previously reported patients with CoQ2 the proband presented with early myoclonic epilepsy, hypertrophic cardiomyopathy and only in a later stage developed a nephrotic syndrome. 23816342 2013
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome
0.130 GeneticVariation group BEFREE The first defect in a CoQ(10) biosynthetic gene, COQ2, was identified in a child with encephalomyopathy and nephrotic syndrome and in a younger sibling with only nephropathy. 17186472 2006
CUI: C0027726
Disease: Nephrotic Syndrome
Nephrotic Syndrome
0.130 Biomarker group HPO