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 Biomarker group CTD_human [Thymidylate synthase and dihydropyrimidine dehydrogenase gene expressions in colorectal cancer using the Danenberg tumor profile method]. 15222106 2004
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.340 Biomarker group LHGDN [Significance of pyrimidine nucleoside phosphorylase and dihydropyrimidine dehydrogenase levels to predict postoperative recurrence in primary breast cancer]. 18347391 2008
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		0.080 Biomarker disease BEFREE With respect to the severity of diastolic dysfunction and pulmonary artery pressure, patients with a positive DPD scan showed the expected E' and pulmonary artery systolic pressure for their age.Even considering the limited sensitivity of a positive DPD scan detecting wtTTR amyloidosis, the incidence of a positive DPD scan in non-cardiac patients indicated that wtTTR amyloid deposition does not seem to be a major cause for age-related diastolic dysfunction, nor does appear to have a high incidence in patients with heart failure with preserved EF in the elderly. 31019172 2019
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		0.050 AlteredExpression group BEFREE With a goal of identifying relations between gene expression and response (mucosal or pathological) or survival in esophageal cancer patients (stages II to IV) receiving oxaliplatin, 5-fluorouracil (5FU) and radiation, we measured in endoscopic primary tumor biopsies from 38 patients, the expression of seven genes (gammaGCS, gammaGT, MRP-2, ERCC-1, XPA, TS and DPD) prior to treatment, 1 week following oxaliplatin alone and at the end of the combined radio-chemotherapy cycle using real time QRT-PCR. 17127229 2006
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		0.050 AlteredExpression disease BEFREE With a goal of identifying relations between gene expression and response (mucosal or pathological) or survival in esophageal cancer patients (stages II to IV) receiving oxaliplatin, 5-fluorouracil (5FU) and radiation, we measured in endoscopic primary tumor biopsies from 38 patients, the expression of seven genes (gammaGCS, gammaGT, MRP-2, ERCC-1, XPA, TS and DPD) prior to treatment, 1 week following oxaliplatin alone and at the end of the combined radio-chemotherapy cycle using real time QRT-PCR. 17127229 2006
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus 		0.050 AlteredExpression disease BEFREE With a goal of identifying relations between gene expression and response (mucosal or pathological) or survival in esophageal cancer patients (stages II to IV) receiving oxaliplatin, 5-fluorouracil (5FU) and radiation, we measured in endoscopic primary tumor biopsies from 38 patients, the expression of seven genes (gammaGCS, gammaGT, MRP-2, ERCC-1, XPA, TS and DPD) prior to treatment, 1 week following oxaliplatin alone and at the end of the combined radio-chemotherapy cycle using real time QRT-PCR. 17127229 2006
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		0.020 AlteredExpression disease BEFREE When the relationship between TP, OPRT, TS and DPD mRNA expression levels and the sensitivity of CCA tissues to 5-FU was examined, only OPRT mRNA expression was significantly correlated with the response to 5-FU. 22912546 2012
CUI: C0151544
Disease: Gastrointestinal carcinoma
Gastrointestinal carcinoma 		0.010 Biomarker disease BEFREE We used a chemotherapy scheme based on 5-FU for the treatment of 75 patients with gastrointestinal carcinoma and detected the serum drug concentration and DPYD gene polymorphism (DPYD*2, *3, *4 *5 *9 *12). 17848752 2007
CUI: C0278488
Disease: Carcinoma breast stage IV
Carcinoma breast stage IV 		0.010 Biomarker disease BEFREE We reviewed medical records for consecutive patients with mBC who underwent DPYD genotyping before commencing capecitabine between December 2014 and December 2017. 30746637 2019
CUI: C0238358
Disease: Hypokalemic periodic paralysis
Hypokalemic periodic paralysis 		0.090 GeneticVariation disease BEFREE We recently showed genetic linkage of hypoPP to loci on chromosome 1q31-32, co-localized with the DHP-sensitive calcium channel CACNL1A3.We propose to term this locus hypoPP-1. 7959693 1994
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		0.600 AlteredExpression group LHGDN We present a novel, standardized approach for TP, DPD, and TS mRNA quantification in archival tissue specimens and applied this to a large series of primary colorectal tumors. 16132996 2006
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 Biomarker group BEFREE We investigated the correlation between tumor sensitivity to 5-fluorouracil (5-FU) and the enzymatic activity and mRNA levels of thymidylate synthetase (TS) and dihydropyrimidine dehydrogenase (DPD) using human tumor xenografts in nude mice. 10213225 1999
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.400 AlteredExpression disease BEFREE We investigated the characterization of DPD immunohistochemically, and showed that immunohistochemical expression of DPD can be used to predict the sensitivity of colorectal carcinomas to 5-FU. 10811492 2000
CUI: C0549410
Disease: Palmar-plantar erythrodysesthesia syndrome
Palmar-plantar erythrodysesthesia syndrome 		0.020 GeneticVariation disease BEFREE We identified the first common DPYD polymorphisms to be consistently associated with capecitabine toxicity, rs12132152 (toxicity allele frequency (TAF)=0.031, OR=3.83, p=4.31×10(-6)) and rs12022243 (TAF=0.196, OR=1.69, p=2.55×10(-5)). rs12132152 was particularly strongly associated with hand-foot syndrome (OR=6.1, p=3.6×10(-8)). 24647007 2015
CUI: C0852711
Disease: Sickle Cell Dactylitis
Sickle Cell Dactylitis 		0.020 GeneticVariation disease BEFREE We identified the first common DPYD polymorphisms to be consistently associated with capecitabine toxicity, rs12132152 (toxicity allele frequency (TAF)=0.031, OR=3.83, p=4.31×10(-6)) and rs12022243 (TAF=0.196, OR=1.69, p=2.55×10(-5)). rs12132152 was particularly strongly associated with hand-foot syndrome (OR=6.1, p=3.6×10(-8)). 24647007 2015
CUI: C0007113
Disease: Rectal Carcinoma
Rectal Carcinoma 		0.070 Biomarker disease BEFREE We identified p53, p27kip1, Ki67, matrix metalloprotease-9, survivin, Ki67 proliferative index, CD133, COX2, CD44v6, thymidylate synthase, thymidine phosphorylase, and dihydropyrimidine dehydrogenase as the most common markers studied in literature to date, and we explained their prognostic potential and their implications in the evaluation of the response to preoperative therapies in rectal cancers. 28326100 2017
CUI: C0238358
Disease: Hypokalemic periodic paralysis
Hypokalemic periodic paralysis 		0.090 GeneticVariation disease BEFREE We have characterized patient-specific DHP receptor mutations in 11 probands of 33 independent hypoKPP kindreds that occur at one of two adjacent nucleotides within the same codon and predict substitution of a highly conserved arginine in the S4 segment of domain 4 with either histidine or glycine. 8004673 1994
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver 		0.020 AlteredExpression disease BEFREE We found that DPD mRNA was higher in patients with pancreatic cancers than those with gastric cancers, colon cancers, and liver cancers. 21210725 2011
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.400 AlteredExpression disease BEFREE We found that DPD mRNA was higher in patients with pancreatic cancers than those with gastric cancers, colon cancers, and liver cancers. 21210725 2011
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		0.360 AlteredExpression disease BEFREE We found that DPD mRNA was higher in patients with pancreatic cancers than those with gastric cancers, colon cancers, and liver cancers. 21210725 2011
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		0.010 Biomarker group BEFREE We find that three of these genes (FOXP1, DPYD, and TWIST1) are both associated with developmental disorders and differentially expressed in the patient. 28126037 2017
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.360 Biomarker disease BEFREE We examined two genetic polymorphisms of the metabolic enzymes cytochrome P450 2A6 (CYP2A6) and dihydropyrimidine dehydrogenase (DPD) in 58 Japanese hepatitis C virus-seropositive HCC patients. 23571497 2013
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		0.010 Biomarker disease BEFREE We examined two genetic polymorphisms of the metabolic enzymes cytochrome P450 2A6 (CYP2A6) and dihydropyrimidine dehydrogenase (DPD) in 58 Japanese hepatitis C virus-seropositive HCC patients. 23571497 2013
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.010 AlteredExpression disease LHGDN We examined TK1 gene expression by RT-PCR and related it to gene expression of TS, TP and DPD in 69 samples from epithelial ovarian cancer, 8 low-malignant-potential tumors, 16 benign ovarian tumors and 34 normal ovaries. 11992400 2002
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 AlteredExpression group BEFREE We examined intratumoral TS and DPD mRNA expressions, using the Danenberg tumor profile method. 22270332 2012