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 |
Schizophrenia
|
0.410 |
Biomarker
|
disease |
CTD_human |
Exome sequencing supports a de novo mutational paradigm for schizophrenia.
|
21822266 |
2011 |
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 |
Schizophrenia
|
0.410 |
Biomarker
|
disease |
CTD_human |
De novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia.
|
23042115 |
2012 |
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 |
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 |
Schizophrenia
|
0.410 |
GeneticVariation
|
disease |
GWASCAT |
Genome-wide association analysis identifies 30 new susceptibility loci for schizophrenia.
|
28991256 |
2017 |
Schizophrenia
|
0.410 |
GeneticVariation
|
disease |
GWASCAT |
Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection.
|
29483656 |
2018 |
Schizophrenia
|
0.410 |
GeneticVariation
|
disease |
GWASCAT |
Genome-wide association study of schizophrenia in Ashkenazi Jews.
|
26198764 |
2015 |
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 |
Autistic Disorder
|
0.400 |
Biomarker
|
disease |
HPO |
|
|
|
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 |
Colorectal Carcinoma
|
0.400 |
Biomarker
|
disease |
BEFREE |
Regulation of dihydropyrimidine dehydrogenase in colorectal cancer.
|
10499634 |
1999 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |