DPYD, dihydropyrimidine dehydrogenase, 1806

N. diseases: 249; N. variants: 101
Disease: Speech Delay ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0241210
Disease: Speech Delay
Speech Delay 		0.320 GeneticVariation disease BEFREE Our study suggests that hemizygous deletions involving the DPYD locus present with variable phenotypes which can include speech delay and autistic features, and may also be influenced by additional mutations in other genes, issues which need to be considered in genetic counseling. 21114665 2011
CUI: C0241210
Disease: Speech Delay
Speech Delay 		0.320 Biomarker disease CTD_human Our study suggests that hemizygous deletions involving the DPYD locus present with variable phenotypes which can include speech delay and autistic features, and may also be influenced by additional mutations in other genes, issues which need to be considered in genetic counseling. 21114665 2011
CUI: C0241210
Disease: Speech Delay
Speech Delay 		0.320 GeneticVariation disease BEFREE Hemizygous DPYD deletions were previously suggested to contribute to a phenotype with autism spectrum disorder and speech delay. 22003227 2011