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: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.600 AlteredExpression group BEFREE We did not find any significant differences in TS, TP and DPD gene expression between colorectal tumor and surrounding mucosa. 15875081 2005
CUI: C0235782
Disease: Gallbladder Carcinoma
Gallbladder Carcinoma 		0.010 AlteredExpression disease BEFREE We conducted this study to clarify the role of TS and DPD expressions in gallbladder carcinoma (GBC). 22270332 2012
CUI: C0345905
Disease: Intrahepatic Cholangiocarcinoma
Intrahepatic Cholangiocarcinoma 		0.010 GeneticVariation disease BEFREE We conducted this study to clarify if TS and DPD gene expressions are a prognostic indicator for intrahepatic cholangiocarcinoma (IHCC). 22143355 2012
CUI: C4284013
Disease: Primary cholangiocarcinoma of intrahepatic biliary tract
Primary cholangiocarcinoma of intrahepatic biliary tract 		0.010 GeneticVariation disease BEFREE We conducted this study to clarify if TS and DPD gene expressions are a prognostic indicator for intrahepatic cholangiocarcinoma (IHCC). 22143355 2012
CUI: C0280100
Disease: Solid Neoplasm
Solid Neoplasm 		0.020 AlteredExpression phenotype BEFREE We conducted a large-scale population study on the activity of TS and DPD in patients with various solid tumors. 14612954 2003
CUI: C1959620
Disease: Dihydropyrimidine Dehydrogenase Deficiency
Dihydropyrimidine Dehydrogenase Deficiency 		0.800 GeneticVariation disease BEFREE We conclude that (a) lethal toxicity can occur in partially DPD-deficient individuals after administration of 5-FU and is not exclusive to profoundly DPD-deficient individuals as suggested previously, (b) the complicated heterozygote genotype seen in these patients, combined with DPD deficiency being an autosomal codominant inherited syndrome, precludes the use of simple genotyping assays that identify only one or two mutations as a method for identifying DPD-deficient individuals; and (c) these multiple heterozygote genotypes (which are more difficult to accurately characterize) may be responsible for some of the conflicting reports which suggests a lack of correlation between phenotype and genotype. 12912951 2003
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.400 GeneticVariation disease BEFREE We assessed whether dihydropyrimidine dehydrogenase (DPD)-related indicators can predict CRC patients' outcomes. 30519982 2020
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.400 GeneticVariation disease BEFREE We analysed more than 200 potentially functional, common, inherited variants in genes within the 5FU, capecitabine, oxaliplatin and DNA repair pathways, together with four rare dihydropyrimidine dehydrogenase (DPYD) variants, in 2183 aCRC patients treated with oxaliplatin-fluoropyrimidine chemotherapy with, or without, cetuximab (from MRC COIN and COIN-B trials). 30114658 2018
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.100 GeneticVariation disease BEFREE We analysed more than 200 potentially functional, common, inherited variants in genes within the 5FU, capecitabine, oxaliplatin and DNA repair pathways, together with four rare dihydropyrimidine dehydrogenase (DPYD) variants, in 2183 aCRC patients treated with oxaliplatin-fluoropyrimidine chemotherapy with, or without, cetuximab (from MRC COIN and COIN-B trials). 30114658 2018
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: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.020 GeneticVariation disease BEFREE We aimed to investigate the association between dihydropyrimidine dehydrogenase (DPYD) gene polymorphisms and the risk of pediatric acute lymphoblastic leukemia (ALL) and its prognosis after chemotherapy. 26846104 2016
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		0.020 Biomarker disease BEFREE Variation in pyrimidine metabolism genes, particularly DPYD, which was previously reported to be associated with OC, may influence risk; however, stratification by folate intake is unlikely to modify disease risk appreciably in these women. 25066213 2014
CUI: C0029925
Disease: Ovarian Carcinoma
Ovarian Carcinoma 		0.010 Biomarker disease BEFREE Variation in pyrimidine metabolism genes, particularly DPYD, which was previously reported to be associated with OC, may influence risk; however, stratification by folate intake is unlikely to modify disease risk appreciably in these women. 25066213 2014
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.010 Biomarker disease BEFREE Variation in pyrimidine metabolism genes, particularly DPYD, which was previously reported to be associated with OC, may influence risk; however, stratification by folate intake is unlikely to modify disease risk appreciably in these women. 25066213 2014
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.600 Biomarker group CTD_human Variance in the expression of 5-Fluorouracil pathway genes in colorectal cancer. 15814641 2005
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.400 Biomarker disease CTD_human Variance in the expression of 5-Fluorouracil pathway genes in colorectal cancer. 15814641 2005
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.400 AlteredExpression disease BEFREE Value of plasma SN-38 levels and DPD activity in irinotecan-based individualized chemotherapy for advanced colorectal cancer with heterozygous type UGT1A1<sup>*</sup>6 or UGT1A1<sup>*</sup>28. 30538568 2018
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.100 AlteredExpression disease BEFREE Value of plasma SN-38 levels and DPD activity in irinotecan-based individualized chemotherapy for advanced colorectal cancer with heterozygous type UGT1A1<sup>*</sup>6 or UGT1A1<sup>*</sup>28. 30538568 2018
CUI: C0494165
Disease: Secondary malignant neoplasm of liver
Secondary malignant neoplasm of liver 		0.090 AlteredExpression disease BEFREE Using a reverse transcription competitive PCR assay, we quantified DPD mRNA levels in 10 matched colorectal tumors and adjacent normal mucosae and 7 colorectal liver metastases and adjacent normal livers. 10499634 1999
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 Biomarker disease BEFREE Using DHP, a larger negative impact related to type 2 diabetes mellitus is found in those with lower educational level, female and younger (20-39 years) or older (60-79 years) subjects. 30799197 2019
CUI: C4721579
Disease: Secondary malignant neoplasm of colon and/or rectum
Secondary malignant neoplasm of colon and/or rectum 		0.070 AlteredExpression disease BEFREE Upregulation of ERCC1 and DPD expressions after oxaliplatin-based first-line chemotherapy for metastatic colorectal cancer. 23169295 2012
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.400 GeneticVariation disease BEFREE TYMS 2R3R polymorphism and the -[IVS]14+1G>A mutation in DPYD was not associated with susceptibility to CRC. 29906295 2018
CUI: C0549410
Disease: Palmar-plantar erythrodysesthesia syndrome
Palmar-plantar erythrodysesthesia syndrome 		0.020 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: C0852711
Disease: Sickle Cell Dactylitis
Sickle Cell Dactylitis 		0.020 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 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