DisGeNET - a database of gene-disease associations

DPYS, dihydropyrimidinase, 1807

N. diseases: 63; N. variants: 8

Disease: Dihydropyrimidinase deficiency ×

Variant: rs200913682 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs200913682

Entrez Id:	1807;105375692
Gene Symbol:	DPYS;LOC105375692

DPYS;LOC105375692

CUI:	C0342803
Disease:

Dihydropyrimidinase deficiency

0.700

GeneticVariation

CLINVAR

Functional characterization of 21 allelic variants of dihydropyrimidinase.

28642038

2017

dbSNP:

rs200913682

Entrez Id:	1807;105375692
Gene Symbol:	DPYS;LOC105375692

DPYS;LOC105375692

CUI:	C0342803
Disease:

Dihydropyrimidinase deficiency

0.700

GeneticVariation

CLINVAR

Diagnosis of dihydropyrimidinase deficiency in a Chinese boy with dihydropyrimidinuria.

23732435

2013

dbSNP:

rs200913682

Entrez Id:	1807;105375692
Gene Symbol:	DPYS;LOC105375692

DPYS;LOC105375692

CUI:	C0342803
Disease:

Dihydropyrimidinase deficiency

0.700

GeneticVariation

CLINVAR

Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients.

20362666

2010