GCDH, glutaryl-CoA dehydrogenase, 2639

N. diseases: 2; N. variants: 120
Source: CURATED ×
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0268595
Disease: Glutaric aciduria, type 1
Glutaric aciduria, type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 1 110 1.000 definitive 1.000 20 110 1988 2020
CUI: C0013421
Disease: Dystonia
Dystonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 86 61 0.430 None 1.000 2 1 1995 2015