DPYD, dihydropyrimidine dehydrogenase, 1806

N. diseases: 249; N. variants: 101
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4304578
Disease: 1p21.3 microdeletion syndrome
1p21.3 microdeletion syndrome
0.300 ChromosomalRearrangement phenotype ORPHANET Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability. 22003227 2011
CUI: C4304578
Disease: 1p21.3 microdeletion syndrome
1p21.3 microdeletion syndrome
0.300 ChromosomalRearrangement phenotype ORPHANET Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder. 21114665 2011
CUI: C4021982
Disease: Abnormal eating behavior
Abnormal eating behavior
0.100 Biomarker phenotype HPO
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision
0.100 Biomarker disease HPO
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.020 GeneticVariation disease BEFREE The authors conclude that patients carrying the c.85T>C C allele have an increased risk of developing acute lymphoblastic leukemia and have inferior outcome, and that DPYD c.85T>C can be used as a guide for individualized treatment and the decision to utilize 5-fluorouracil in acute lymphoblastic leukemia patients. 28618970 2017
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.020 GeneticVariation disease BEFREE DPYD gene polymorphisms are associated with risk and chemotherapy prognosis in pediatric patients with acute lymphoblastic leukemia. 26846104 2016
CUI: C0264490
Disease: Acute respiratory failure
Acute respiratory failure
0.010 Biomarker disease BEFREE The purpose of this study was to examine the efficacy of PMX-DHP therapy for acute respiratory failure in patients with RPIPs, when compared with a historical control receiving conventional treatment without PMX-DHP. 28554260 2017
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.070 AlteredExpression group BEFREE TS and DPD expression levels were higher in tumor tissues, and TS expression levels were significantly lower in adenocarcinomas than those in other subtypes. 28835573 2017
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.070 AlteredExpression group BEFREE The levels of dihydropyrimidine dehydrogenase and thymidine phosphorylase mRNA in PPC showed a similar tendency to those in SCC, in contrast to AC. 26031756 2015
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.070 Biomarker group BEFREE DPD immunopositive cases were more frequently observed in adenocarcinoma, in females, and in nonsmokers. 24405586 2014
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.070 AlteredExpression group BEFREE Neuroendocrine carcinomas show characteristic patterns of expression for 5-FU-related enzymes, including low DPD mRNA and protein level and high TS mRNA level compared with adenocarcinomas. 21062732 2010
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.070 Biomarker group BEFREE Although both TS and DPD activities showed a tendency to be high for adenocarcinoma, there was no significant difference between TS and/or DPD activities and any clinical findings (age, gender, stage and histological type). 15868929 2005
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.070 AlteredExpression group BEFREE The relative gene expression value of DPD was significantly greater in adenocarcinomas than those in squamous cell carcinomas, 2.33 +/- 1.22 versus 1.50 +/- 1.20 (P = 0.01). 19015148 2009
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.070 AlteredExpression group LHGDN The ratio of the TP level to DPD level in tumor tissue was higher in squamous cell carcinoma than in adenocarcinoma. 16969493 2006
CUI: C0334276
Disease: Adenocarcinoma in Situ
Adenocarcinoma in Situ
0.010 AlteredExpression phenotype BEFREE Adenocarcinoma in situ showed significantly higher DPD mRNA levels and more EGFR mutation frequency than other histological types (P < .05). 24405586 2014
CUI: C0338106
Disease: Adenocarcinoma of colon
Adenocarcinoma of colon
0.010 AlteredExpression disease BEFREE TS, TP and DPD expression levels were investigated by real-time quantitative RT-PCR on RNA extracts from formalin-fixed and paraffin-embedded tissues of 55 patients with colon adenocarcinoma. 20387074 2011
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.030 AlteredExpression disease BEFREE High expression of dihydropyrimidine dehydrogenase in lung adenocarcinoma is associated with mutations in epidermal growth factor receptor: implications for the treatment of non--small-cell lung cancer using 5-fluorouracil. 24405586 2014
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.030 Biomarker disease BEFREE A recent meta-analysis study showed that post-operative adjuvant chemotherapy with UFT, an oral combination drug composed of tegafur [prodrug of 5-fluorouracil (5-FU)] and uracil [inhibitor of dihydropyrimidine dehydrogenase (DPD)] was associated with improved survival in patients with lung adenocarcinomas, but not in those with lung squamous cell carcinomas. 19015148 2009
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.030 Biomarker disease BEFREE Favorable effect of the combination of vinorelbine and dihydropyrimidine dehydrogenase‑inhibitory fluoropyrimidine in EGFR‑mutated lung adenocarcinoma: retrospective and in vitro studies. 25573239 2015
CUI: C0149978
Disease: Adenocarcinoma of rectum
Adenocarcinoma of rectum
0.010 Biomarker disease BEFREE This work is intended to study the effect of preoperative capecitabine and radiotherapy treatment on the levels of thymidylate synthase (TS), thymidine phosphorylase (TP) and dihydropyrimidine dehydrogenase (DPD) mRNAs in rectal carcinoma. 17688376 2007
CUI: C0278595
Disease: Adult Fibrosarcoma
Adult Fibrosarcoma
0.010 Biomarker disease BEFREE Moreover, we have established that increasing the length of the alkyl chain at the quaternised nitrogen of the 4-(<i>N</i>-alkylpyridinium)-1,4-DHP molecule or the introduction of propargyl moieties in the 1,4-DHP molecule significantly influences the cytotoxicity on HT-1080 (human fibrosarcoma) and MH-22A (mouse hepatocarcinoma) cell lines, as well as the estimated basal cytotoxicity. 30871041 2019
CUI: C0220630
Disease: Adult Liver Carcinoma
Adult Liver Carcinoma
0.010 Biomarker disease BEFREE Overall, this study emphasizes the possible potential and therapeutic role of DHP-8 in skin and liver cancer. 30203236 2018
CUI: C0280099
Disease: Adult Solid Neoplasm
Adult Solid Neoplasm
0.010 GeneticVariation group BEFREE 5-Fluorouracil (5-FU), the mainstay of solid tumor chemotherapy over the past 40 years, induces grade III-IV toxicities in up to 15% of patients with polymorphisms in the dihydropyrimidine dehydrogenase (DPYD), thymidylate synthase (TYMS), and methylenetetrahydrofolate reductase (MTHFR) genes. 24434920 2015
CUI: C3495917
Disease: Advanced breast cancer
Advanced breast cancer
0.020 GeneticVariation disease BEFREE The aim of this prospective pilot study was to analyze the effect of TS, MTHFR, and DPD gene polymorphisms on toxicity and efficacy in advanced breast cancer patients receiving capecitabine as monotherapy. 17000685 2006
CUI: C3495917
Disease: Advanced breast cancer
Advanced breast cancer
0.020 GeneticVariation disease BEFREE The goal of this prospective observational study was to perform exhaustive exome DPYD sequencing and to examine relationships between DPYD variants and toxicity in advanced breast cancer patients receiving capecitabine. 28481884 2017