HTT, huntingtin, 3064

N. diseases: 188; N. variants: 32
Disease: Akinetic-Rigid Variant of Huntington Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751207
Disease: Akinetic-Rigid Variant of Huntington Disease
Akinetic-Rigid Variant of Huntington Disease 		0.300 Biomarker disease CTD_human Risk factors for the onset and progression of Huntington disease. 28111121 2017
CUI: C0751207
Disease: Akinetic-Rigid Variant of Huntington Disease
Akinetic-Rigid Variant of Huntington Disease 		0.300 Biomarker disease CTD_human Functional changes in postsynaptic adenosine A(2A) receptors during early stages of a rat model of Huntington disease. 21867705 2011
CUI: C0751207
Disease: Akinetic-Rigid Variant of Huntington Disease
Akinetic-Rigid Variant of Huntington Disease 		0.300 Biomarker disease CTD_human Loss of striatal type 1 cannabinoid receptors is a key pathogenic factor in Huntington's disease. 20929960 2011
CUI: C0751207
Disease: Akinetic-Rigid Variant of Huntington Disease
Akinetic-Rigid Variant of Huntington Disease 		0.300 Biomarker disease CTD_human DNA breakage and induction of DNA damage response proteins precede the appearance of visible mutant huntingtin aggregates. 18831068 2009
CUI: C0751207
Disease: Akinetic-Rigid Variant of Huntington Disease
Akinetic-Rigid Variant of Huntington Disease 		0.300 Biomarker disease CTD_human Combination therapy with coenzyme Q10 and creatine produces additive neuroprotective effects in models of Parkinson's and Huntington's diseases. 19476553 2009
CUI: C0751207
Disease: Akinetic-Rigid Variant of Huntington Disease
Akinetic-Rigid Variant of Huntington Disease 		0.300 Biomarker disease CTD_human Allele-specific silencing of mutant Huntington's disease gene. 19094060 2009
CUI: C0751207
Disease: Akinetic-Rigid Variant of Huntington Disease
Akinetic-Rigid Variant of Huntington Disease 		0.300 Biomarker disease CTD_human A small-molecule therapeutic lead for Huntington's disease: preclinical pharmacology and efficacy of C2-8 in the R6/2 transgenic mouse. 17925440 2007
CUI: C0751207
Disease: Akinetic-Rigid Variant of Huntington Disease
Akinetic-Rigid Variant of Huntington Disease 		0.300 Biomarker disease CTD_human Transcriptional repression of PGC-1alpha by mutant huntingtin leads to mitochondrial dysfunction and neurodegeneration. 17018277 2006
CUI: C0751207
Disease: Akinetic-Rigid Variant of Huntington Disease
Akinetic-Rigid Variant of Huntington Disease 		0.300 Biomarker disease CTD_human Early behavioral deficits in R6/2 mice suitable for use in preclinical drug testing. 16137562 2005
CUI: C0751207
Disease: Akinetic-Rigid Variant of Huntington Disease
Akinetic-Rigid Variant of Huntington Disease 		0.300 Biomarker disease CTD_human Molecular mediators, environmental modulators and experience-dependent synaptic dysfunction in Huntington's disease. 15218539 2004
CUI: C0751207
Disease: Akinetic-Rigid Variant of Huntington Disease
Akinetic-Rigid Variant of Huntington Disease 		0.300 Biomarker disease CTD_human Expanded huntingtin activates the c-Jun terminal kinase/c-Jun pathway prior to aggregate formation in striatal neurons in culture. 15312898 2004