rs2458413
DPYS;DCSTAMP
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
rs2458413
DPYS;DCSTAMP
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
rs62620995
DPYS;DCSTAMP
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
rs121964923
DPYS;LOC105375692
Dihydropyrimidinase deficiency
C
0.800
CausalMutation
CLINVAR
rs121964924
DPYS;LOC105375692
Dihydropyrimidinase deficiency
G
0.800
CausalMutation
CLINVAR
rs267606773
×
Entrez Id:
1807
Gene Symbol:
DPYS
DPYS
Dihydropyrimidinase deficiency
T
0.800
CausalMutation
CLINVAR
rs200913682
DPYS;LOC105375692
Dihydropyrimidinase deficiency
T
0.700
GeneticVariation
CLINVAR
Functional characterization of 21 allelic variants of dihydropyrimidinase.
28642038
2017
rs200913682
DPYS;LOC105375692
Dihydropyrimidinase deficiency
T
0.700
GeneticVariation
CLINVAR
Diagnosis of dihydropyrimidinase deficiency in a Chinese boy with dihydropyrimidinuria.
23732435
2013
rs200913682
DPYS;LOC105375692
Dihydropyrimidinase deficiency
T
0.700
GeneticVariation
CLINVAR
Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients.
20362666
2010
rs201258823
×
Entrez Id:
1807
Gene Symbol:
DPYS
DPYS
Dihydropyrimidinase deficiency
T
0.700
GeneticVariation
CLINVAR
Functional characterization of 21 allelic variants of dihydropyrimidinase.
28642038
2017
rs201258823
×
Entrez Id:
1807
Gene Symbol:
DPYS
DPYS
Dihydropyrimidinase deficiency
T
0.700
GeneticVariation
CLINVAR
Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients.
20362666
2010
rs267606774
×
Entrez Id:
1807
Gene Symbol:
DPYS
DPYS
Dihydropyrimidinase deficiency
A
0.700
CausalMutation
CLINVAR
rs2458413
DPYS;DCSTAMP
Osteitis Deformans
A
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
rs2458413
DPYS;DCSTAMP
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
rs2458413
DPYS;DCSTAMP
Osteitis Deformans
A
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
rs2458413
DPYS;DCSTAMP
Paget Disease
A
0.700
GeneticVariation
GWASDB
Genome-wide association identifies three new susceptibility loci for Paget's disease of bone.
21623375
2011
rs2458413
DPYS;DCSTAMP
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
rs121964923
DPYS;LOC105375692
Dihydropyrimidinase deficiency
0.800
GeneticVariation
UNIPROT
Dihydropyrimidinase deficiency: structural organization, chromosomal localization, and mutation analysis of the human dihydropyrimidinase gene.
9718352
1998
rs121964923
DPYS;LOC105375692
Dihydropyrimidinase deficiency
0.800
GeneticVariation
UNIPROT
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.
23519317
2013
rs121964924
DPYS;LOC105375692
Dihydropyrimidinase deficiency
0.800
GeneticVariation
UNIPROT
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.
23519317
2013
rs121964924
DPYS;LOC105375692
Dihydropyrimidinase deficiency
0.800
GeneticVariation
UNIPROT
Dihydropyrimidinase deficiency: structural organization, chromosomal localization, and mutation analysis of the human dihydropyrimidinase gene.
9718352
1998
rs267606773
×
Entrez Id:
1807
Gene Symbol:
DPYS
DPYS
Dihydropyrimidinase deficiency
0.800
GeneticVariation
UNIPROT
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.
23519317
2013
rs267606773
×
Entrez Id:
1807
Gene Symbol:
DPYS
DPYS
Dihydropyrimidinase deficiency
0.800
GeneticVariation
UNIPROT
Dihydropyrimidinase deficiency: structural organization, chromosomal localization, and mutation analysis of the human dihydropyrimidinase gene.
9718352
1998