×
Entrez Id:
114781
Gene Symbol:
BTBD9
BTBD9
0.700
GeneticVariation
disease
GWASDB
A genetic risk factor for periodic limb movements in sleep.
17634447
2007
×
Entrez Id:
114781
Gene Symbol:
BTBD9
BTBD9
0.700
GeneticVariation
disease
GWASDB
In a genome-wide association study we found highly significant associations between RLS and intronic variants in the homeobox gene MEIS1, the BTBD9 gene encoding a BTB(POZ) domain as well as variants in a third locus containing the genes encoding mitogen-activated protein kinase MAP2K5 and the transcription factor LBXCOR1 on chromosomes 2p, 6p and 15q, respectively.
17637780
2007
×
Entrez Id:
114781
Gene Symbol:
BTBD9
BTBD9
0.700
GeneticVariation
disease
GWASDB
Genome-wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12.1.
21779176
2011
×
Entrez Id:
4211
Gene Symbol:
MEIS1
MEIS1
0.500
GeneticVariation
disease
GWASDB
Genome-wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12.1.
21779176
2011
×
Entrez Id:
4211
Gene Symbol:
MEIS1
MEIS1
0.500
GeneticVariation
disease
GWASDB
MEIS1 has been implicated in limb development, raising the possibility that RLS has components of a developmental disorder.
17637780
2007
×
Entrez Id:
5789
Gene Symbol:
PTPRD
PTPRD
0.470
GeneticVariation
disease
GWASDB
This work identifies PTPRD as the fourth genome-wide significant locus for RLS .
18660810
2008
×
Entrez Id:
5789
Gene Symbol:
PTPRD
PTPRD
0.470
GeneticVariation
disease
GWASDB
Genome-wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12.1.
21779176
2011
×
Entrez Id:
5607
Gene Symbol:
MAP2K5
MAP2K5
0.190
GeneticVariation
disease
GWASDB
Genome-wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12.1.
21779176
2011
×
Entrez Id:
5607
Gene Symbol:
MAP2K5
MAP2K5
0.190
GeneticVariation
disease
GWASDB
Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions.
17637780
2007
×
Entrez Id:
643714
Gene Symbol:
CASC16
CASC16
0.100
GeneticVariation
disease
GWASDB
Genome-wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12.1.
21779176
2011
×
Entrez Id:
6622
Gene Symbol:
SNCA
SNCA
0.130
Biomarker
disease
HPO
×
Entrez Id:
9927
Gene Symbol:
MFN2
MFN2
0.110
Biomarker
disease
HPO
×
Entrez Id:
5071
Gene Symbol:
PRKN
PRKN
0.110
Biomarker
disease
HPO
×
Entrez Id:
120892
Gene Symbol:
LRRK2
LRRK2
0.110
Biomarker
disease
HPO
×
Entrez Id:
9829
Gene Symbol:
DNAJC6
DNAJC6
0.100
Biomarker
disease
HPO
×
Entrez Id:
5420
Gene Symbol:
PODXL
PODXL
0.100
Biomarker
disease
HPO
×
Entrez Id:
54832
Gene Symbol:
VPS13C
VPS13C
0.100
Biomarker
disease
HPO
×
Entrez Id:
27429
Gene Symbol:
HTRA2
HTRA2
0.100
Biomarker
disease
HPO
×
Entrez Id:
7345
Gene Symbol:
UCHL1
UCHL1
0.100
Biomarker
disease
HPO
×
Entrez Id:
11315
Gene Symbol:
PARK7
PARK7
0.100
Biomarker
disease
HPO
×
Entrez Id:
6314
Gene Symbol:
ATXN7
ATXN7
0.100
Biomarker
disease
HPO
×
Entrez Id:
2512
Gene Symbol:
FTL
FTL
0.100
Biomarker
disease
HPO
×
Entrez Id:
65018
Gene Symbol:
PINK1
PINK1
0.100
Biomarker
disease
HPO
×
Entrez Id:
114781
Gene Symbol:
BTBD9
BTBD9
0.700
Biomarker
disease
MGD
To elucidate its function and potential role in the pathophysiology of RLS , we generated a line of mutant Btbd9 mice derived from a commercial gene-trap embryonic stem cell clone.
22536397
2012
×
Entrez Id:
114781
Gene Symbol:
BTBD9
BTBD9
0.700
Biomarker
disease
MGD
These results, taken together, suggest that the Btbd9 mutant mice model several characteristics similar to RLS and would therefore be the first genotypic mouse model of RLS .
22678064
2012