DPYS, dihydropyrimidinase, 1807

N. diseases: 63; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0264490
Disease: Acute respiratory failure
Acute respiratory failure
0.010 Biomarker disease BEFREE The purpose of this study was to examine the efficacy of PMX-DHP therapy for acute respiratory failure in patients with RPIPs, when compared with a historical control receiving conventional treatment without PMX-DHP. 28554260 2017
CUI: C0278595
Disease: Adult Fibrosarcoma
Adult Fibrosarcoma
0.010 Biomarker disease BEFREE Moreover, we have established that increasing the length of the alkyl chain at the quaternised nitrogen of the 4-(<i>N</i>-alkylpyridinium)-1,4-DHP molecule or the introduction of propargyl moieties in the 1,4-DHP molecule significantly influences the cytotoxicity on HT-1080 (human fibrosarcoma) and MH-22A (mouse hepatocarcinoma) cell lines, as well as the estimated basal cytotoxicity. 30871041 2019
CUI: C0220630
Disease: Adult Liver Carcinoma
Adult Liver Carcinoma
0.010 Biomarker disease BEFREE Overall, this study emphasizes the possible potential and therapeutic role of DHP-8 in skin and liver cancer. 30203236 2018
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate
0.100 Biomarker disease HPO
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
0.010 GeneticVariation disease BEFREE Genetic linkage studies associate tubulin-binding proteins such as the dihydropyrimidinase family with an increased risk to develop schizophrenia and bipolar disorder. 27112918 2016
CUI: C4551584
Disease: Brain atrophy
Brain atrophy
0.010 AlteredExpression disease BEFREE Here, we show that 4 newly identified DHP deficient patients presented with strongly elevated levels of 5,6-dihydrouracil and 5,6-dihydrothymine in urine and a highly variable clinical presentation, ranging from asymptomatic to infantile spasm and reduced white matter and brain atrophy. 29054612 2017
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 Biomarker disease BEFREE Finally, SLC16A12, GALR2, TOX, SPOCK2, EGFR5 and DPYS are candidate biomarkers for breast cancer (methylation range 33%-79%) with the combination of EGFR5 or TOX hypermethylation showing a sensitivity of 92% and specificity of 92%. 18446232 2008
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma
0.010 AlteredExpression disease BEFREE Dihydropyrimidinase-like protein 3 expression is negatively regulated by MYCN and associated with clinical outcome in neuroblastoma. 24011394 2013
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
0.010 AlteredExpression disease BEFREE Here, we show that 4 newly identified DHP deficient patients presented with strongly elevated levels of 5,6-dihydrouracil and 5,6-dihydrothymine in urine and a highly variable clinical presentation, ranging from asymptomatic to infantile spasm and reduced white matter and brain atrophy. 29054612 2017
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma
0.010 AlteredExpression disease BEFREE Dihydropyrimidinase-like protein 3 expression is negatively regulated by MYCN and associated with clinical outcome in neuroblastoma. 24011394 2013
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.020 Biomarker disease BEFREE Similarly NKX2-5, SPOCK2, SLC16A12, DPYS and GALR2 are candidate biomarkers for colon cancer (methylation range 60%-95%) and GALR2 hypermethylation showed a sensitivity of 85% and specificity of 95%. 18446232 2008
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.020 Biomarker disease BEFREE We performed genetic analyses of the family of a patient with advanced colon cancer who underwent radical colectomy followed by treatment with 5-FU prodrug capecitabine and developed severe toxicity attributable to a lack of DHP. 25915935 2015
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
0.010 Biomarker group BEFREE The only calcium channel mutation reported to date is a deletion in the gene for the DHP-receptor alpha 1-subunit resulting in neonatal death in muscular dysgenesis mice (1). 7987325 1994
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot
0.100 Biomarker disease HPO
Delayed speech and language development
0.100 Biomarker phenotype HPO
CUI: C0011847
Disease: Diabetes
Diabetes
0.020 GeneticVariation disease BEFREE The Diabetes Health Profile-18 (DHP-18) was developed to measure disease-specific health-related quality of life. 30613400 2018
CUI: C0011847
Disease: Diabetes
Diabetes
0.020 Biomarker disease BEFREE Developing preference-based measures for diabetes: DHP-3D and DHP-5D. 28477411 2017
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.020 Biomarker group BEFREE Developing preference-based measures for diabetes: DHP-3D and DHP-5D. 28477411 2017
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.020 GeneticVariation group BEFREE The Diabetes Health Profile-18 (DHP-18) was developed to measure disease-specific health-related quality of life. 30613400 2018
Diabetes Mellitus, Insulin-Dependent
0.010 Biomarker disease BEFREE Psychometric testing of the Norwegian Diabetes Health Profile (DHP-18) in patients with type 1 diabetes. 30613400 2018
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: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy
0.010 Biomarker disease BEFREE <b>Conclusion:</b> Non-DHP CCBs may be a reasonable therapeutic option for patients with diabetic kidney disease and persistent proteinuria despite maximum doses of ACE inhibitors or ARBs. 30966785 2019
CUI: C0342803
Disease: Dihydropyrimidinase deficiency
Dihydropyrimidinase deficiency
0.710 GeneticVariation disease CLINVAR Functional characterization of 21 allelic variants of dihydropyrimidinase. 28642038 2017
CUI: C0342803
Disease: Dihydropyrimidinase deficiency
Dihydropyrimidinase deficiency
0.710 GeneticVariation disease BEFREE Dihydropyrimidinase deficiency in four East Asian patients due to novel and rare DPYS mutations affecting protein structural integrity and catalytic activity. 29054612 2017
CUI: C0342803
Disease: Dihydropyrimidinase deficiency
Dihydropyrimidinase deficiency
0.710 CausalMutation disease CLINVAR