HTT, huntingtin, 3064

N. diseases: 188; N. variants: 32
Disease: Juvenile Huntington Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751208
Disease: Juvenile Huntington Disease
Juvenile Huntington Disease 		0.530 GeneticVariation disease BEFREE Juvenile Huntington's Disease Skin Fibroblasts Respond with Elevated Parkin Level and Increased Proteasome Activity as a Potential Mechanism to Counterbalance the Pathological Consequences of Mutant Huntingtin Protein. 31717806 2019
CUI: C0751208
Disease: Juvenile Huntington Disease
Juvenile Huntington Disease 		0.530 Biomarker disease CTD_human Risk factors for the onset and progression of Huntington disease. 28111121 2017
CUI: C0751208
Disease: Juvenile Huntington Disease
Juvenile Huntington Disease 		0.530 GeneticVariation disease BEFREE Patients with JHD usually carry more than 60 CAG repeats within the HTT gene. 21412977 2011
CUI: C0751208
Disease: Juvenile Huntington Disease
Juvenile Huntington Disease 		0.530 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: C0751208
Disease: Juvenile Huntington Disease
Juvenile Huntington Disease 		0.530 Biomarker disease CTD_human Loss of striatal type 1 cannabinoid receptors is a key pathogenic factor in Huntington's disease. 20929960 2011
CUI: C0751208
Disease: Juvenile Huntington Disease
Juvenile Huntington Disease 		0.530 Biomarker disease CTD_human DNA breakage and induction of DNA damage response proteins precede the appearance of visible mutant huntingtin aggregates. 18831068 2009
CUI: C0751208
Disease: Juvenile Huntington Disease
Juvenile Huntington Disease 		0.530 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: C0751208
Disease: Juvenile Huntington Disease
Juvenile Huntington Disease 		0.530 Biomarker disease CTD_human Allele-specific silencing of mutant Huntington's disease gene. 19094060 2009
CUI: C0751208
Disease: Juvenile Huntington Disease
Juvenile Huntington Disease 		0.530 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: C0751208
Disease: Juvenile Huntington Disease
Juvenile Huntington Disease 		0.530 GermlineCausalMutation disease ORPHANET The relationship between CAG repeat length and age of onset differs for Huntington's disease patients with juvenile onset or adult onset. 17181545 2007
CUI: C0751208
Disease: Juvenile Huntington Disease
Juvenile Huntington Disease 		0.530 Biomarker disease BEFREE The results definitely confirm the diagnosis of HD and indicate the CAG trinucleotide repeat expansion of IT15 gene in this HD family. 17687393 2007
CUI: C0751208
Disease: Juvenile Huntington Disease
Juvenile Huntington Disease 		0.530 Biomarker disease CTD_human Transcriptional repression of PGC-1alpha by mutant huntingtin leads to mitochondrial dysfunction and neurodegeneration. 17018277 2006
CUI: C0751208
Disease: Juvenile Huntington Disease
Juvenile Huntington Disease 		0.530 Biomarker disease CTD_human Early behavioral deficits in R6/2 mice suitable for use in preclinical drug testing. 16137562 2005
CUI: C0751208
Disease: Juvenile Huntington Disease
Juvenile Huntington Disease 		0.530 Biomarker disease CTD_human Molecular mediators, environmental modulators and experience-dependent synaptic dysfunction in Huntington's disease. 15218539 2004
CUI: C0751208
Disease: Juvenile Huntington Disease
Juvenile Huntington Disease 		0.530 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