DPYD, dihydropyrimidine dehydrogenase, 1806

N. diseases: 249; N. variants: 101
Disease: nervous system disorder ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.310 GeneticVariation group BEFREE The 5 new diagnoses implicated 2 genes associated with canonical mitochondrial disorders (NDUFV1, POLG2), and 3 genes known to underlie other neurologic disorders (DPYD, KARS, WFS1), underscoring the phenotypic and biochemical overlap with other inborn errors. 23596069 2013
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.310 Biomarker group CTD_human Comprehensive analysis of pyrimidine metabolism in 450 children with unspecific neurological symptoms using high-pressure liquid chromatography-electrospray ionization tandem mass spectrometry. 16435204 2005