Condition: Dihydropyrimidine Dehydrogenase Deficiency
rs1057516357 in
DPYD gene and
Dihydropyrimidine Dehydrogenase Deficiency
PMID 15899693 2005 Identification of three novel mutations in the dihydropyrimidine dehydrogenase gene associated with altered pre-mRNA splicing or protein function.
PMID 26804652 2016 Phenotypic and clinical implications of variants in the dihydropyrimidine dehydrogenase gene.
PMID 25087612 2014 Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results.
PMID 11988088 2002 Novel disease-causing mutations in the dihydropyrimidine dehydrogenase gene interpreted by analysis of the three-dimensional protein structure.
PMID 17121937 2006 Clinical relevance of different dihydropyrimidine dehydrogenase gene single nucleotide polymorphisms on 5-fluorouracil tolerance.
PMID 24648345 2014 Comparative functional analysis of DPYD variants of potential clinical relevance to dihydropyrimidine dehydrogenase activity.
PMID 12562666 2003 Lethal 5-fluorouracil toxicity associated with a novel mutation in the dihydropyrimidine dehydrogenase gene.
PMID 19104657 2008 Strong association of a common dihydropyrimidine dehydrogenase gene polymorphism with fluoropyrimidine-related toxicity in cancer patients.
rs746991079 in
DPYD;DPYD-AS1 gene and
Dihydropyrimidine Dehydrogenase Deficiency
PMID 21590448 2011 Pharmacokinetics of orally administered uracil in healthy volunteers and in DPD-deficient patients, a possible tool for screening of DPD deficiency.
rs773499329 in
LOC105378867;DPYD gene and
Dihydropyrimidine Dehydrogenase Deficiency
PMID 22353294 2012 Dual diagnosis of dihydropyrimidine dehydrogenase deficiency and GM₁ gangliosidosis.