Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
0.040 Biomarker disease BEFREE Together, our results identify SorCS2 as an interacting protein of mtHTT and demonstrate that impaired SorCS2-mediated NR2A subunit trafficking to dendritic surface of MSNs is, to our knowledge, a novel mechanism contributing to motor coordination deficits of HD. 28469074 2017
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
0.040 Biomarker disease BEFREE GRIN2A and TCERG1 may show true association with residual age of onset for Huntington's disease. 17018562 2007
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
0.040 Biomarker disease LHGDN GRIN2A and TCERG1 may show true association with residual age of onset for Huntington's disease. 17018562 2007
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
0.040 GeneticVariation disease LHGDN In order to expand these findings we fine-mapped a larger HD patient panel (n = 250) using densely spaced markers flanking the originally associated SNPs in GRIN2A and GRIN2B. 17569088 2007
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
0.040 Biomarker disease BEFREE In order to expand these findings we fine-mapped a larger HD patient panel (n = 250) using densely spaced markers flanking the originally associated SNPs in GRIN2A and GRIN2B. 17569088 2007
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
0.040 AlteredExpression disease BEFREE We conclude that these two genes, coding for NR2B and NR2A subtypes mainly expressed in the striatum, may influence the variability in AO of HD. 15742215 2005
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
0.040 Biomarker disease LHGDN We conclude that these two genes, coding for NR2B and NR2A subtypes mainly expressed in the striatum, may influence the variability in AO of HD. 15742215 2005