Source: CTD_human

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3064
Gene Symbol: HTT
HTT
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
1.000 Biomarker CTD_human Three major categories of risk factors for onset of HD were identified: CAG repeat length in the huntingtin gene, CAG instability, and genetic modifiers. 28111121

2017

Entrez Id: 3064
Gene Symbol: HTT
HTT
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
1.000 Biomarker CTD_human Functional changes in postsynaptic adenosine A(2A) receptors during early stages of a rat model of Huntington disease. 21867705

2011

Entrez Id: 3064
Gene Symbol: HTT
HTT
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
1.000 Biomarker CTD_human Loss of striatal type 1 cannabinoid receptors is a key pathogenic factor in Huntington's disease. 20929960

2011

Entrez Id: 3064
Gene Symbol: HTT
HTT
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
1.000 Biomarker CTD_human Combination therapy with coenzyme Q10 and creatine produces additive neuroprotective effects in models of Parkinson's and Huntington's diseases. 19476553

2009

Entrez Id: 3064
Gene Symbol: HTT
HTT
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
1.000 Biomarker CTD_human As opposed to the effect of depleting wild-type huntingtin, specifically silencing the mutant species actually lowered caspase-3 activation and protected HD cells under stress conditions. 19094060

2009

Entrez Id: 3064
Gene Symbol: HTT
HTT
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
1.000 Biomarker CTD_human Furthermore, DNA damage and activated H2AX are present in HD transgenic mice before the formation of mutant Htt aggregates and HD pathogenesis. 18831068

2009

Entrez Id: 3064
Gene Symbol: HTT
HTT
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
1.000 Biomarker CTD_human Huntington's disease (HD) is a progressive neurodegenerative disease caused by a glutamine expansion within huntingtin protein. 17925440

2007

Entrez Id: 3064
Gene Symbol: HTT
HTT
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
1.000 Biomarker CTD_human Huntington's disease (HD) is an inherited neurodegenerative disease caused by a glutamine repeat expansion in huntingtin protein. 17018277

2006

Entrez Id: 3064
Gene Symbol: HTT
HTT
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
1.000 Biomarker CTD_human Huntington's disease (HD) is a neurodegenerative disorder caused by an elongated glutamine repeat in huntingtin. 16137562

2005

Entrez Id: 3064
Gene Symbol: HTT
HTT
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
1.000 Biomarker CTD_human Pathogenesis in HD includes the cytoplasmic cleavage of Huntingtin and release of an amino-terminal fragment capable of nuclear localization, where expanded-Huntingtin (Exp-Htt) might lead to aberrant transcriptional regulation, neuronal dysfunction and degeneration. 15312898

2004

Entrez Id: 3064
Gene Symbol: HTT
HTT
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
1.000 Biomarker CTD_human Molecular mediators, environmental modulators and experience-dependent synaptic dysfunction in Huntington's disease. 15218539

2004