GCDH, glutaryl-CoA dehydrogenase, 2639

N. diseases: 72; N. variants: 121
Disease: Glutaric aciduria ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268594
Disease: Glutaric aciduria
Glutaric aciduria 		0.110 Biomarker phenotype BEFREE Studies on glutaryl-CoA dehydrogenase in leucocytes, fibroblasts and amniotic fluid cells. The normal enzyme and the mutant form in patients with glutaric aciduria. 699321 1978
CUI: C0268594
Disease: Glutaric aciduria
Glutaric aciduria 		0.110 Biomarker phenotype HPO