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: 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 GeneticVariation disease CLINVAR Diagnosis of dihydropyrimidinase deficiency in a Chinese boy with dihydropyrimidinuria. 23732435 2013
CUI: C0342803
Disease: Dihydropyrimidinase deficiency
Dihydropyrimidinase deficiency 		0.710 GeneticVariation disease CLINVAR Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients. 20362666 2010
CUI: C0342803
Disease: Dihydropyrimidinase deficiency
Dihydropyrimidinase deficiency 		0.710 GermlineCausalMutation disease ORPHANET Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients. 20362666 2010
CUI: C0342803
Disease: Dihydropyrimidinase deficiency
Dihydropyrimidinase deficiency 		0.710 GermlineCausalMutation disease ORPHANET Dihydropyrimidinase deficiency: structural organization, chromosomal localization, and mutation analysis of the human dihydropyrimidinase gene. 9718352 1998
CUI: C0342803
Disease: Dihydropyrimidinase deficiency
Dihydropyrimidinase deficiency 		0.710 GeneticVariation disease UNIPROT Dihydropyrimidinase deficiency: structural organization, chromosomal localization, and mutation analysis of the human dihydropyrimidinase gene. 9718352 1998
CUI: C0342803
Disease: Dihydropyrimidinase deficiency
Dihydropyrimidinase deficiency 		0.710 CausalMutation disease CLINVAR
CUI: C0342803
Disease: Dihydropyrimidinase deficiency
Dihydropyrimidinase deficiency 		0.710 Biomarker disease CTD_human
CUI: C3495551
Disease: Dihydropyrimidinuria
Dihydropyrimidinuria 		0.320 GermlineCausalMutation disease ORPHANET Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients. 20362666 2010
CUI: C3495551
Disease: Dihydropyrimidinuria
Dihydropyrimidinuria 		0.320 Biomarker disease BEFREE DPYS and CTSC were found to be associated with dihydropyrimidinuria and Papillon-Lefevre syndrome phenotypes using OMIM. 20797317 2010
CUI: C3495551
Disease: Dihydropyrimidinuria
Dihydropyrimidinuria 		0.320 GermlineCausalMutation disease ORPHANET Dihydropyrimidinase deficiency: structural organization, chromosomal localization, and mutation analysis of the human dihydropyrimidinase gene. 9718352 1998
CUI: C3495551
Disease: Dihydropyrimidinuria
Dihydropyrimidinuria 		0.320 Biomarker disease BEFREE Dihydropyrimidinase (DHP) deficiency (MIM 222748) is characterized by dihydropyrimidinuria and is associated with a variable clinical phenotype. 9718352 1998
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental 		0.300 Biomarker disease CTD_human Systems level analysis and identification of pathways and networks associated with liver fibrosis. 25380136 2014
CUI: C0029401
Disease: Osteitis Deformans
Osteitis Deformans 		0.100 GeneticVariation disease GWASCAT Genome-wide association identifies three new susceptibility loci for Paget's disease of bone. 21623375 2011
CUI: C0029401
Disease: Osteitis Deformans
Osteitis Deformans 		0.100 GeneticVariation disease GWASDB Genome-wide association identifies three new susceptibility loci for Paget's disease of bone. 21623375 2011
CUI: C1368019
Disease: Paget Disease
Paget Disease 		0.100 GeneticVariation disease GWASDB Genome-wide association identifies three new susceptibility loci for Paget's disease of bone. 21623375 2011
CUI: C0029401
Disease: Osteitis Deformans
Osteitis Deformans 		0.100 GeneticVariation disease GWASDB Genome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factors for Paget's disease of bone. 20436471 2010
CUI: C1368019
Disease: Paget Disease
Paget Disease 		0.100 GeneticVariation disease GWASDB Genome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factors for Paget's disease of bone. 20436471 2010
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate 		0.100 Biomarker disease HPO
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.100 Biomarker disease HPO
CUI: C0023380
Disease: Lethargy
Lethargy 		0.100 Biomarker phenotype HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.100 Biomarker phenotype HPO
CUI: C0220981
Disease: Metabolic acidosis
Metabolic acidosis 		0.100 Biomarker phenotype HPO
CUI: C0265529
Disease: Plagiocephaly
Plagiocephaly 		0.100 Biomarker disease HPO