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 CausalMutation disease CLINVAR
CUI: C0342803
Disease: Dihydropyrimidinase deficiency
Dihydropyrimidinase deficiency 		0.710 Biomarker disease CTD_human
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
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.100 Biomarker phenotype HPO
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		0.100 Biomarker phenotype HPO
CUI: C0456070
Disease: Growth delay
Growth delay 		0.100 Biomarker phenotype HPO
CUI: C0694563
Disease: Excessive daytime somnolence
Excessive daytime somnolence 		0.100 Biomarker phenotype HPO
CUI: C0877165
Disease: Short phalanx of finger
Short phalanx of finger 		0.100 Biomarker phenotype HPO
CUI: C0948163
Disease: Leukoaraiosis
Leukoaraiosis 		0.100 Biomarker phenotype HPO
CUI: C1848528
Disease: Extrapyramidal dyskinesia
Extrapyramidal dyskinesia 		0.100 Biomarker disease HPO
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		0.100 Biomarker phenotype HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 Biomarker group HPO
CUI: C4021761
Disease: Morphological abnormality of the pyramidal tract
Morphological abnormality of the pyramidal tract 		0.100 Biomarker disease HPO
CUI: C4025582
Disease: Reduced dihydropyrimidine dehydrogenase activity
Reduced dihydropyrimidine dehydrogenase activity 		0.100 Biomarker phenotype HPO
CUI: C1868938
Disease: End stage cardiac failure
End stage cardiac failure 		0.010 AlteredExpression disease BEFREE In contrast, the level of mRNA encoding the DHP receptor was decreased by 47% (P less than 0.001) in the LV myocardium from the patients with HF compared to the normal controls. 1326001 1992
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: 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
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 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 The results indicate that the DHP-receptor alpha 1-subunit mutation causes HypoPP. 7987325 1994