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: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio
0.100 GeneticVariation phenotype GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
CUI: C0750325
Disease: Vomiting, recurrent
Vomiting, recurrent
0.010 Biomarker phenotype BEFREE A neonate with recurrent vomiting and generalized hypotonia diagnosed with a deficiency of dihydropyrimidine dehydrogenase. 17065071 2006
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure
0.100 Biomarker phenotype HPO
CUI: C0887900
Disease: Upper Aerodigestive Tract Neoplasms
Upper Aerodigestive Tract Neoplasms
0.300 Biomarker group CTD_human Thymidylate synthase, dihydropyrimidine dehydrogenase, orotate phosphoribosyltransferase mRNA and protein expression levels in solid tumors in large scale population analysis. 19020767 2008
CUI: C0205698
Disease: Undifferentiated carcinoma
Undifferentiated carcinoma
0.010 AlteredExpression disease BEFREE There were no significant correlations between TS/DPD levels and other clinicopathological factors, except for low DPD mRNA levels in undifferentiated carcinoma. 10697632 2000
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.020 AlteredExpression phenotype BEFREE Our results also revealed a disturbed transcription of Per1 during tumor progression, which might be the cause for disrupted daily oscillation of DPD in undifferentiated colon carcinoma cells. 17699798 2007
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.020 AlteredExpression phenotype BEFREE Increases of the DPD mRNA level in cancerous tissue seem to reflect tumor progression. 12095978 2002
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.020 AlteredExpression phenotype BEFREE Immunohistochemical evaluation of TS and DPD in UTUC human samples revealed that TS expression was significantly associated with stage, grade, and lymphovascular invasion and DPD expression was significantly associated with grade. 22998564 2012
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.020 Biomarker phenotype BEFREE A high expression of 5-FU factors was detected: orotate phosphoribosyltransferase: differentiated cases (P = 0.0137), lower T factor (P = 0.0411); dihydropyrimidine dehydrogenase: nerve invasion (P = 0.0188), lymph node recurrence (P = 0.0253); TS, positive N factor (P = 0.0061). 20944490 2010
CUI: C4722518
Disease: Triple-Negative Breast Carcinoma
Triple-Negative Breast Carcinoma
0.010 AlteredExpression disease BEFREE Genomic rearrangements in DPYD, rather than aberrant DPD protein levels, reflect a distinct tumour profile associated with prolonged time to progression upon first-line chemotherapy in TNBC. 24104963 2013
CUI: C3539878
Disease: Triple Negative Breast Neoplasms
Triple Negative Breast Neoplasms
0.010 AlteredExpression disease BEFREE Genomic rearrangements in DPYD, rather than aberrant DPD protein levels, reflect a distinct tumour profile associated with prolonged time to progression upon first-line chemotherapy in TNBC. 24104963 2013
CUI: C4531196
Disease: Transthyretin cardiac amyloidosis
Transthyretin cardiac amyloidosis
0.010 Biomarker disease BEFREE Either 99mTechnetium diphosphonate (Tc-DPD) or pyrophosphate (Tc-PYP) scintigraphy plays a relevant role in diagnosing transthyretin cardiac amyloidosis (CA), and labeled radiotracers have been extensively studied in diagnosing CA. 28537040 2019
CUI: C0040100
Disease: Thymoma
Thymoma
0.010 AlteredExpression disease BEFREE The combined use of measurements of TS and DPD mRNA levels using real-time RT-PCR analyses may provide an indication of the selective cytoxicity of 5-FU on thymoma. 12616366 2003
CUI: C0205969
Disease: Thymic Carcinoma
Thymic Carcinoma
0.010 AlteredExpression disease BEFREE We also conducted in vitro study of TS, OPRT and DPD expression using thymic carcinoma, thymic tumor and thymic fibroblast cell lines. 21550686 2011
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
0.020 Biomarker phenotype BEFREE DPYD*9A carries were found to be at higher risk for HFS, diarrhoea and thrombocytopenia when compared to patients with wild allele. 31653159 2019
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
0.020 GeneticVariation phenotype BEFREE The DPYD*2A variant statistically significantly associated with the specific AEs nausea/vomiting (P = .007) and neutropenia (P < .001), whereas D949V statistically significantly associated with dehydration (P = .02), diarrhea (P = .003), leukopenia (P = .002), neutropenia (P < .001), and thrombocytopenia (P < .001). 25381393 2014
CUI: C0423224
Disease: Sunken eyes
Sunken eyes
0.100 Biomarker phenotype HPO
CUI: C0038362
Disease: Stomatitis
Stomatitis
0.030 GeneticVariation disease BEFREE Two rare DPYD variants were associated with increased toxicity (Asp949Val with neutropenia, nausea and vomiting, diarrhoea and infection; IVS14+1G>A with lethargy, diarrhoea, stomatitis, hand-foot syndrome and infection; all ORs > 3). 30114658 2018
CUI: C0038362
Disease: Stomatitis
Stomatitis
0.030 GeneticVariation disease BEFREE It was lower DPD activity that responsible for the relatively higher incidence of bone marrow hypocellular, diarrhea, and oral mucositis in the C<sub>SN-38 1.5 h</sub> > 50.24 ng/ml and C<sub>SN-38 49 h</sub> > 15.25 ng/ml subsets. 28278081 2017
CUI: C0038362
Disease: Stomatitis
Stomatitis
0.030 AlteredExpression disease BEFREE The incidence of bone marrow suppression, diarrhea, and oral mucositis was high in patients with low DPD mRNA expression. 25388847 2015
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms
0.320 AlteredExpression group LHGDN Comparative analysis of thymidine phosphorylase and dihydropyrimidine dehydrogenase expression in gastric and colorectal cancers. 15069545 2004
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms
0.320 AlteredExpression group BEFREE Recent studies showed that the mutations in EGFR is associated with high expression of dihydropyrimidine dehydrogenase, which is an inactivating and rate-limiting enzyme for fluoropyrimidine, and suggested that the combination of chemotherapy with fluoropyrimidine and EGFR-targeting agents is effective against EGFR-overexpressing gastric tumors, while ANXA3 overexpression confers resistance to tyrosine kinase inhibitors targeting the EGFR pathway. 26475168 2015
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms
0.320 Biomarker group CTD_human The expression profiles of orotate phosphoribosyltransferase and dihydropyrimidine dehydrogenase in gastric cancer and their clinical significance. 17089033 2006
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms
0.320 Biomarker group CTD_human Combined GADD45A and thymidine phosphorylase expression levels predict response and survival of neoadjuvant-treated gastric cancer patients. 15837757 2005
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms
0.320 Biomarker group CTD_human Efficacy of laser capture microdissection plus RT-PCR technique in analyzing gene expression levels in human gastric cancer and colon cancer. 18652704 2008