Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0035258
Disease: Restless Legs Syndrome
Restless Legs Syndrome
0.190 Biomarker disease BEFREE Restless legs syndrome (RLS) is considered a genetic disease and, following a genome-wide association study conducted in 2007, the mitogen-activated protein kinase 5 (MAP2K5) gene has been regarded as the promising candidate gene for RLS. 29422930 2018
CUI: C0035258
Disease: Restless Legs Syndrome
Restless Legs Syndrome
0.190 Biomarker disease BEFREE Our findings directly link MEIS1 and SKOR1, two significantly associated genes with RLS and also prioritize SKOR1 over MAP2K5 in the RLS associated intergenic region of MAP2K5/SKOR1 found by GWAS. 30111810 2018
CUI: C0035258
Disease: Restless Legs Syndrome
Restless Legs Syndrome
0.190 GeneticVariation disease GWASCAT Identification of novel risk loci for restless legs syndrome in genome-wide association studies in individuals of European ancestry: a meta-analysis. 29029846 2017
CUI: C0035258
Disease: Restless Legs Syndrome
Restless Legs Syndrome
0.190 Biomarker disease BEFREE Our results confirmed the association of BTBD9 and MAP2K5/SKOR1 with primary RLS in Chinese population. 28329290 2017
CUI: C0035258
Disease: Restless Legs Syndrome
Restless Legs Syndrome
0.190 GeneticVariation disease BEFREE A predicted miR-330-3p target site SNP (rs41305272) in mitogen-activated protein kinase kinase 5 (MAP2K5) mRNA was in LD (d' = 1.0, r(2) = 0.02) with a reported GWAS-identified variant for restless legs syndrome (RLS), a disorder frequently comorbid with anxiety and depression, possibly because of a shared pathophysiology. 24436253 2014
CUI: C0035258
Disease: Restless Legs Syndrome
Restless Legs Syndrome
0.190 Biomarker disease BEFREE Variants in MEIS1, BTBD9, and MAP2K5/SKOR1 confer a significant risk of RLS in a US population. 21925394 2011
CUI: C0035258
Disease: Restless Legs Syndrome
Restless Legs Syndrome
0.190 GeneticVariation disease BEFREE In the German sample, variants in MEIS1 and BTBD9 were associated with RLS in ESRD (P(nom)≤0.004, ORs 1.52 and 1.55), whereas, in the Greek sample, there was a trend for association to MAP2K5/SKOR1 and BTBD9 (P(nom)≤0.08, ORs 1.41 and 1.33). 21572129 2011
CUI: C0035258
Disease: Restless Legs Syndrome
Restless Legs Syndrome
0.190 GeneticVariation disease GWASDB Genome-wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12.1. 21779176 2011
CUI: C0035258
Disease: Restless Legs Syndrome
Restless Legs Syndrome
0.190 GeneticVariation disease GWASCAT Genome-wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12.1. 21779176 2011
CUI: C0035258
Disease: Restless Legs Syndrome
Restless Legs Syndrome
0.190 GeneticVariation disease BEFREE Restless legs syndrome (RLS) is associated with common variants in three intronic and intergenic regions in MEIS1, BTBD9, and MAP2K5/LBXCOR1 on chromosomes 2p, 6p and 15q. 19279021 2009
CUI: C0035258
Disease: Restless Legs Syndrome
Restless Legs Syndrome
0.190 GeneticVariation disease GWASCAT Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions. 17637780 2007
CUI: C0035258
Disease: Restless Legs Syndrome
Restless Legs Syndrome
0.190 GeneticVariation disease BEFREE 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
CUI: C0035258
Disease: Restless Legs Syndrome
Restless Legs Syndrome
0.190 GeneticVariation disease BEFREE Genetic risk variants for RLS have recently been identified in two genes, one of them the homeobox gene MEIS1, known to be involved in embryonic development and variants in a second locus containing the genes encoding mitogen-activated protein kinase MAP2K5, and the transcription factor LBXCOR1. 18081164 2007
CUI: C0035258
Disease: Restless Legs Syndrome
Restless Legs Syndrome
0.190 GeneticVariation disease GWASDB Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions. 17637780 2007