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
Dihydropyrimidine Dehydrogenase Deficiency
0.800 GeneticVariation disease UNIPROT The DNA sequence and biological annotation of human chromosome 1. 16710414 2006
Dihydropyrimidine Dehydrogenase Deficiency
0.800 GeneticVariation disease CLINVAR Comparative functional analysis of DPYD variants of potential clinical relevance to dihydropyrimidine dehydrogenase activity. 24648345 2014
Dihydropyrimidine Dehydrogenase Deficiency
0.800 GeneticVariation disease CLINVAR Identification of three novel mutations in the dihydropyrimidine dehydrogenase gene associated with altered pre-mRNA splicing or protein function. 15899693 2005
Dihydropyrimidine Dehydrogenase Deficiency
0.800 CausalMutation disease CLINVAR
Dihydropyrimidine Dehydrogenase Deficiency
0.800 GeneticVariation disease BEFREE Patients with partial DPD deficiency appeared to have a 3.4-fold higher risk of developing grade IV neutropenia than patients with normal DPD activity. 12209976 2002
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.410 Biomarker disease CTD_human Exome sequencing supports a de novo mutational paradigm for schizophrenia. 21822266 2011
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.410 GeneticVariation disease GWASCAT Genome-Wide Association Study Detected Novel Susceptibility Genes for Schizophrenia and Shared Trans-Populations/Diseases Genetic Effect. 30285260 2019
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.410 Biomarker disease CTD_human De novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia. 23042115 2012
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.410 GeneticVariation disease GWASCAT Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. 28540026 2017
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.410 GeneticVariation disease BEFREE Differentially expressed genes that were confirmed by qPCR included others at genome-wide significant risk loci for schizophrenia (MAD1L1 and DPYD) and BDNF. 24556472 2014
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.410 GeneticVariation disease GWASCAT Genome-wide association analysis identifies 30 new susceptibility loci for schizophrenia. 28991256 2017
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.410 GeneticVariation disease GWASCAT Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection. 29483656 2018
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.410 GeneticVariation disease GWASCAT Genome-wide association study of schizophrenia in Ashkenazi Jews. 26198764 2015
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
0.410 GeneticVariation disease GWASCAT Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways. 31374203 2019
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.400 Biomarker disease HPO
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.400 Biomarker disease CTD_human Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder. 21114665 2011
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.400 Biomarker disease BEFREE Regulation of dihydropyrimidine dehydrogenase in colorectal cancer. 10499634 1999
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.400 Biomarker disease BEFREE DPD and TP may affect the acquisition of resistance to 5-FU during liver metastasis of colorectal cancer. 16525674 2006
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.400 AlteredExpression disease BEFREE Thymidylate synthase and dihydropyrimidine dehydrogenase mRNA expression after administration of 5-fluorouracil to patients with colorectal cancer. 17330233 2007
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.400 GeneticVariation disease BEFREE The DPYD(*)2A allele was identified only in one patient: a male who was one of 4 CRC patients suffering from grades 3-4 myelotoxicity upon 5-FU chemotherapy. 18443386 2009
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.400 Biomarker disease CTD_human In this study, TS and DPD gene expressions were measured in 47 primary colorectal cancer tumors and 12 metastatic tumors using FFPE specimens. 15222106 2004
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.400 GeneticVariation disease BEFREE A candidate gene study of capecitabine-related toxicity in colorectal cancer identifies new toxicity variants at DPYD and a putative role for ENOSF1 rather than TYMS. 24647007 2015
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.400 GeneticVariation disease BEFREE Polymorphisms in the thymidylate synthase and dihydropyrimidine dehydrogenase genes predict response and toxicity to capecitabine-raltitrexed in colorectal cancer. 17203168 2007
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.400 GeneticVariation disease BEFREE The Genotype for DPYD Risk Variants in Patients With Colorectal Cancer and the Related Toxicity Management Costs in Clinical Practice. 30339275 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.400 GeneticVariation disease BEFREE Analyses of KRAS mutations in metastatic colorectal cancer, EGFR mutations in advanced non-small cell lung cancer, CYP2D6 polymorphism in breast cancer, DPD polymorphism in colorectal cancer and MTHFR polymorphism in osteosarcoma have been performed by real time polymerase chain reaction (PCR) and PCR-restriction fragment length polymorphism (PCR-RFLP). 27837635 2017