GCDH, glutaryl-CoA dehydrogenase, 2639

N. diseases: 72; N. variants: 121
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome
0.120 Biomarker disease BEFREE Glutaryl-CoA dehydrogenase (GCDH) deficiency causes glutaric academia type I (GA-I), an inborn error of metabolism that is characterized clinically by dystonia and dyskinesia and pathologically by neural degeneration of the caudate nucleus and putamen. 15318278 2004
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome
0.120 Biomarker disease BEFREE Glutaryl-CoA dehydrogenase (GCDH) deficiency causes glutaric aciduria type I (GA I), an inborn error of metabolism that is characterized clinically by dystonia and dyskinesia and pathologically by neural degeneration of the caudate and putamen. 10960496 2000
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome
0.120 Biomarker disease HPO