DisGeNET - a database of gene-disease associations

DPYS, dihydropyrimidinase, 1807

N. diseases: 63; N. variants: 8

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:

rs2458413

Entrez Id:	1807;81501
Gene Symbol:	DPYS;DCSTAMP

DPYS;DCSTAMP

CUI:	C0029401
Disease:

Osteitis Deformans

0.820

GeneticVariation

BEFREE

The product of the STMP1 gene has not been extensively studied, however the DCSTAMP gene has an established role in osteoclast differentiation and the associations seen between rs2458413 and PDB are likely mediated through regulatory effects on this gene.

30705363

2019

dbSNP:

rs2458413

Entrez Id:	1807;81501
Gene Symbol:	DPYS;DCSTAMP

DPYS;DCSTAMP

CUI:	C0029401
Disease:

Osteitis Deformans

0.820

GeneticVariation

BEFREE

Our data also confirmed the association of TM7SF4 (rs2458413, OR = 1.40, P = 7.38 × 10(-17)) with PDB.

21623375

2011

dbSNP:

rs2458413

Entrez Id:	1807;81501
Gene Symbol:	DPYS;DCSTAMP

DPYS;DCSTAMP

CUI:	C0029401
Disease:

Osteitis Deformans

0.820

GeneticVariation

GWASCAT

Our data also confirmed the association of TM7SF4 (rs2458413, OR = 1.40, P = 7.38 × 10(-17)) with PDB.

21623375

2011

dbSNP:

rs2458413

Entrez Id:	1807;81501
Gene Symbol:	DPYS;DCSTAMP

DPYS;DCSTAMP

CUI:	C0029401
Disease:

Osteitis Deformans

0.820

GeneticVariation

GWASDB

Our data also confirmed the association of TM7SF4 (rs2458413, OR = 1.40, P = 7.38 × 10(-17)) with PDB.

21623375

2011

dbSNP:

rs2458413

Entrez Id:	1807;81501
Gene Symbol:	DPYS;DCSTAMP

DPYS;DCSTAMP

CUI:	C0029401
Disease:

Osteitis Deformans

0.820

GeneticVariation

GWASDB

Genome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factors for Paget's disease of bone.

20436471

2010

dbSNP:

rs121964923

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

DPYS;LOC105375692

CUI:	C0342803
Disease:

Dihydropyrimidinase deficiency

0.800

GeneticVariation

UNIPROT

Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.

23519317

2013

dbSNP:

rs121964924

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

DPYS;LOC105375692

CUI:	C0342803
Disease:

Dihydropyrimidinase deficiency

0.800

GeneticVariation

UNIPROT

Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.

23519317

2013

dbSNP:

rs267606773

Entrez Id:	1807
Gene Symbol:	DPYS

DPYS

CUI:	C0342803
Disease:

Dihydropyrimidinase deficiency

0.800

GeneticVariation

UNIPROT

Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.

23519317

2013

dbSNP:

rs121964923

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

DPYS;LOC105375692

CUI:	C0342803
Disease:

Dihydropyrimidinase deficiency

0.800

GeneticVariation

UNIPROT

Dihydropyrimidinase deficiency: structural organization, chromosomal localization, and mutation analysis of the human dihydropyrimidinase gene.

9718352

1998

dbSNP:

rs121964924

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

DPYS;LOC105375692

CUI:	C0342803
Disease:

Dihydropyrimidinase deficiency

0.800

GeneticVariation

UNIPROT

Dihydropyrimidinase deficiency: structural organization, chromosomal localization, and mutation analysis of the human dihydropyrimidinase gene.

9718352

1998

dbSNP:

rs267606773

Entrez Id:	1807
Gene Symbol:	DPYS

DPYS

CUI:	C0342803
Disease:

Dihydropyrimidinase deficiency

0.800

GeneticVariation

UNIPROT

Dihydropyrimidinase deficiency: structural organization, chromosomal localization, and mutation analysis of the human dihydropyrimidinase gene.

9718352

1998

dbSNP:

rs121964923

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

DPYS;LOC105375692

CUI:	C0342803
Disease:

Dihydropyrimidinase deficiency

0.800

CausalMutation

CLINVAR

dbSNP:

rs121964924

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

DPYS;LOC105375692

CUI:	C0342803
Disease:

Dihydropyrimidinase deficiency

0.800

CausalMutation

CLINVAR

dbSNP:

rs267606773

Entrez Id:	1807
Gene Symbol:	DPYS

DPYS

CUI:	C0342803
Disease:

Dihydropyrimidinase deficiency

0.800

CausalMutation

CLINVAR

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:

rs201258823

Entrez Id:	1807
Gene Symbol:	DPYS

DPYS

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:

rs2458413

Entrez Id:	1807;81501
Gene Symbol:	DPYS;DCSTAMP

DPYS;DCSTAMP

CUI:	C1368019
Disease:

Paget Disease

0.700

GeneticVariation

GWASDB

Genome-wide association identifies three new susceptibility loci for Paget's disease of bone.

21623375

2011

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

dbSNP:

rs201258823

Entrez Id:	1807
Gene Symbol:	DPYS

DPYS

CUI:	C0342803
Disease:

Dihydropyrimidinase deficiency

0.700

GeneticVariation

CLINVAR

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

20362666

2010

dbSNP:

rs2458413

Entrez Id:	1807;81501
Gene Symbol:	DPYS;DCSTAMP

DPYS;DCSTAMP

CUI:	C1368019
Disease:

Paget Disease

0.700

GeneticVariation

GWASDB

Genome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factors for Paget's disease of bone.

20436471

2010

dbSNP:

rs267606774

Entrez Id:	1807
Gene Symbol:	DPYS

DPYS

CUI:	C0342803
Disease:

Dihydropyrimidinase deficiency

0.700

CausalMutation

CLINVAR

dbSNP:

rs62620995

Entrez Id:	1807;81501
Gene Symbol:	DPYS;DCSTAMP

DPYS;DCSTAMP

CUI:	C0029401
Disease:

Osteitis Deformans

0.010

GeneticVariation

BEFREE

We reported in patients with Paget's disease of bone (PDB) a rare variant (rs62620995) in the TM7SF4 gene, encoding for DC-STAMP, which changes a highly conserved amino acid, possibly damaging according to in silico predictions.

29145829

2017