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 GeneticVariation disease UNIPROT Dihydropyrimidinase deficiency: structural organization, chromosomal localization, and mutation analysis of the human dihydropyrimidinase gene. 9718352 1998
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 study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factors for Paget's disease of bone. 20436471 2010
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: 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: C0238358
Disease: Hypokalemic periodic paralysis
Hypokalemic periodic paralysis 		0.090 GeneticVariation disease BEFREE Skeletal muscle DHP receptor mutations alter calcium currents in human hypokalaemic periodic paralysis myotubes. 7650604 1995
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: C0238358
Disease: Hypokalemic periodic paralysis
Hypokalemic periodic paralysis 		0.090 GeneticVariation disease BEFREE No recombinants were found between HypoPP and D1S412 and a microsatellite contained within the DHP receptor alpha 1 subunit (CACLN1A3) gene. 7897626 1995
CUI: C0238358
Disease: Hypokalemic periodic paralysis
Hypokalemic periodic paralysis 		0.090 GeneticVariation disease BEFREE Recent molecular work has shown that hypoPP is due to mutations in a skeletal muscle voltage-gated calcium channel: the dihydropyridine receptor (DHP receptor). 9196905 1997
CUI: C0238358
Disease: Hypokalemic periodic paralysis
Hypokalemic periodic paralysis 		0.090 GeneticVariation disease BEFREE Genotype-phenotype correlations of DHP receptor alpha 1-subunit gene mutations causing hypokalemic periodic paralysis. 9132138 1997
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: C0238358
Disease: Hypokalemic periodic paralysis
Hypokalemic periodic paralysis 		0.090 GeneticVariation disease BEFREE To identify the cause of hypokalemic periodic paralysis (HOKPP) in a family whose disease is not caused by a mutation in the dihydropyridine-sensitive (DHP) receptor alpha1-subunit gene (CACNA1S). 10599760 1999
CUI: C0238358
Disease: Hypokalemic periodic paralysis
Hypokalemic periodic paralysis 		0.090 GeneticVariation disease BEFREE The results indicate that the DHP-receptor alpha 1-subunit mutation causes HypoPP. 7987325 1994
CUI: C0238358
Disease: Hypokalemic periodic paralysis
Hypokalemic periodic paralysis 		0.090 GeneticVariation disease BEFREE Expression and functional characterization of the cardiac L-type calcium channel carrying a skeletal muscle DHP-receptor mutation causing hypokalaemic periodic paralysis. 8584443 1996
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: 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
CUI: C3714580
Disease: Hypokalemic periodic paralysis type 1
Hypokalemic periodic paralysis type 1 		0.020 GeneticVariation disease BEFREE Genotype-phenotype correlations of DHP receptor alpha 1-subunit gene mutations causing hypokalemic periodic paralysis. 9132138 1997
CUI: C3714580
Disease: Hypokalemic periodic paralysis type 1
Hypokalemic periodic paralysis type 1 		0.020 GeneticVariation disease BEFREE To identify the cause of hypokalemic periodic paralysis (HOKPP) in a family whose disease is not caused by a mutation in the dihydropyridine-sensitive (DHP) receptor alpha1-subunit gene (CACNA1S). 10599760 1999
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: C0026848
Disease: Myopathy
Myopathy 		0.010 GeneticVariation group BEFREE 1.Mutations in the gene encoding the alpha 1-subunit of the skeletal muscle dihydropyridine (DHP) receptor are responsible for familial hypokalaemic periodic paralysis (HypoPP), an autosomal dominant muscle disease. 7650604 1995