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 GeneticVariation LHGDN Huntington disease mutation in Venezuela: age of onset, haplotype analyses and geographic aggregation. 18157708

2008

Entrez Id: 3064
Gene Symbol: HTT
HTT
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
1.000 GeneticVariation LHGDN Disrupted interaction of huntingtin with Bmi-1, a component of the hPRC1L E3 ubiquitin ligase complex, increases monoubiquityl histone H2A (uH2A) levels in a cell culture model of HD. 18400894

2008

Entrez Id: 3064
Gene Symbol: HTT
HTT
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
1.000 Biomarker LHGDN In all Huntington disease cases studied, TDP-43 was frequently colocalized with huntingtin in dystrophic neurites and various intracellular inclusions, but not in intranuclear inclusions; the latter were only stained with huntingtin and anti-ubiquitin antibodies. 19018245

2008

Entrez Id: 3064
Gene Symbol: HTT
HTT
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
1.000 GeneticVariation LHGDN Accumulation of N-terminal mutant huntingtin in mouse and monkey models implicated as a pathogenic mechanism in Huntington's disease. 18558632

2008

Entrez Id: 3064
Gene Symbol: HTT
HTT
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
1.000 Biomarker LHGDN Huntington disease (HD) is a hereditary neurodegenerative disorder caused by an expanded number of CAG repeats in the huntingtin gene. 18981372

2008

Entrez Id: 3064
Gene Symbol: HTT
HTT
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
1.000 Biomarker LHGDN Huntington's disease (HD) is a neurodegenerative disorder associated with expansion of CAG trinucleotide repeats in the huntingtin gene. 17115386

2007

Entrez Id: 3064
Gene Symbol: HTT
HTT
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
1.000 GeneticVariation LHGDN Research studies were conducted to determine the possible levels of mitochondrial defect (deletion) in HD patients and consideration of interaction between the expanded Huntingtin gene as a nuclear gene and mitochondria as a cytoplasmic organelle. 17952586

2007

Entrez Id: 3064
Gene Symbol: HTT
HTT
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
1.000 GeneticVariation LHGDN (1) Huntington's disease (HD) is an autosomal dominant neurodegenerative disease caused by the expansion of polymorphic CAG repeats beyond 36 at exon 1 of huntingtin gene (htt). 17902043

2007

Entrez Id: 3064
Gene Symbol: HTT
HTT
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
1.000 AlteredExpression LHGDN Knowing the temporal location of huntingtin protein in response to signaling and neuronal communication could lead to valuable insights into an important trigger of HD pathology. 17240517

2007

Entrez Id: 3064
Gene Symbol: HTT
HTT
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
1.000 GeneticVariation LHGDN Increased apoptosis, Huntingtin inclusions and altered differentiation in muscle cell cultures from Huntington's disease subjects. 16729030

2006

Entrez Id: 3064
Gene Symbol: HTT
HTT
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
1.000 Biomarker LHGDN Thus, the polyglutamine tract in huntingtin appears to regulate mitochondrial ADP-phosphorylation in a Ca2+-dependent process that fulfills the genetic criteria for the HD trigger of pathogenesis, and it thereby determines a fundamental biological parameter--cellular energy status, which may contribute to the exquisite vulnerability of striatal neurons in HD. 16115812

2005

Entrez Id: 3064
Gene Symbol: HTT
HTT
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
1.000 GeneticVariation LHGDN Huntington's disease is a devastating neurodegenerative condition associated with the formation of intraneuronal aggregates by mutant huntingtin. 16204350

2005

Entrez Id: 3064
Gene Symbol: HTT
HTT
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
1.000 Biomarker LHGDN Huntington disease (HD) results from polyglutamine expansion in the huntingtin protein (htt). 15843398

2005

Entrez Id: 3064
Gene Symbol: HTT
HTT
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
1.000 Biomarker LHGDN Biochemical, ultrastructural, and reversibility studies on huntingtin filaments isolated from mouse and human brain. 15496672

2004

Entrez Id: 3064
Gene Symbol: HTT
HTT
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
1.000 Biomarker LHGDN Our findings indicate that nonnuclear events induced by cytoplasmic huntingtin aggregation play a central role in the progressive neurodegeneration observed in Huntington's disease. 14978262

2004

Entrez Id: 3064
Gene Symbol: HTT
HTT
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
1.000 Biomarker LHGDN In Huntington's disease, expansion occurs in the huntingtin protein. 15261377

2004

Entrez Id: 3064
Gene Symbol: HTT
HTT
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
1.000 GeneticVariation LHGDN Huntington's disease results from a polyglutamine expansion in the N-terminal region of huntingtin (htt). 15359012

2004

Entrez Id: 3064
Gene Symbol: HTT
HTT
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
1.000 Biomarker LHGDN These results suggest that context-dependent neurodegeneration in HD may be mediated by different N-terminal huntingtin fragments. 12657678

2003

Entrez Id: 3064
Gene Symbol: HTT
HTT
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
1.000 Biomarker LHGDN Early Huntington disease prenatal diagnosis by maternal semiquantitative fluorescent-PCR. 12682342

2003

Entrez Id: 3064
Gene Symbol: HTT
HTT
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
1.000 AlteredExpression LHGDN Early and reversible neuropathology induced by tetracycline-regulated lentiviral overexpression of mutant huntingtin in rat striatum. 12952868

2003

Entrez Id: 3064
Gene Symbol: HTT
HTT
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
1.000 GeneticVariation LHGDN Wild type Huntingtin reduces the cellular toxicity of mutant Huntingtin in mammalian cell models of Huntington's disease. 11432963

2001