Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3064
Gene Symbol: HTT
HTT
1.000 GeneticVariation disease BEFREE Huntington disease (HD) is a genetically dominant condition caused by expanded CAG repeats coding for glutamine in the HD gene product huntingtin. 10502825 1999
Entrez Id: 6310
Gene Symbol: ATXN1
ATXN1
0.100 GeneticVariation disease BEFREE Huntington's disease (HD), spinocerebellar ataxias types 1 and 3 (SCA1, SCA3), and spinobulbar muscular atrophy (SBMA) are caused by CAG/polyglutamine expansion mutations. 10717003 2000
Entrez Id: 3064
Gene Symbol: HTT
HTT
1.000 GeneticVariation disease BEFREE Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder caused by an expanded (CAG)n repeat on the huntingtin gene. 10766906 2000
Entrez Id: 3064
Gene Symbol: HTT
HTT
1.000 Biomarker disease BEFREE Huntington's disease is a progressive and fatal neurological disorder caused by the expansion of a CAG trinucleotide repeat in exon 1 of the gene coding for a protein of unknown function that has been named huntingtin. 10970063 2000
Entrez Id: 3064
Gene Symbol: HTT
HTT
1.000 Biomarker disease BEFREE Huntington's disease (HD) is associated with a significant expansion of a CAG trinucleotide repeat, which results in a lengthened polyglutamine tract in the single gene product, huntingtin, on human 4p16.3. 11013077 2000
Entrez Id: 3064
Gene Symbol: HTT
HTT
1.000 GeneticVariation disease BEFREE Huntington's disease (HD) is a hereditary neurodegenerative condition caused by a characteristic mutation in the huntingtin (htt) gene.This gene was identified in 1993. 11466559 2001
Entrez Id: 3064
Gene Symbol: HTT
HTT
1.000 GeneticVariation disease BEFREE Huntington's disease (HD) is an autosomal dominant condition, resulting from a mutation in huntingtin (htt). 11765125 2001
Entrez Id: 3064
Gene Symbol: HTT
HTT
1.000 Biomarker disease BEFREE Huntington disease (HD) is caused by polyglutamine [poly(Q)] expansion in the protein huntingtin (htt). 12393793 2002
Entrez Id: 3064
Gene Symbol: HTT
HTT
1.000 Biomarker disease BEFREE Huntington's Disease belongs to the CAG repeat family of neurodegenerative diseases and is characterized by the presence of an expanded polyglutamine (polyQ) repeat in the huntingtin (htt) gene product. 12490527 2003
Entrez Id: 3064
Gene Symbol: HTT
HTT
1.000 GeneticVariation disease BEFREE Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder caused by the abnormal expansion of a polyglutamine tract in the huntingtin protein. 12657886 2003
Entrez Id: 3064
Gene Symbol: HTT
HTT
1.000 Biomarker disease BEFREE Huntington's disease (HD) is a neurodegenerative disorder caused by expansion of a polyglutamine tract in a protein called huntingtin. 12706247 2003
Entrez Id: 3064
Gene Symbol: HTT
HTT
1.000 GeneticVariation disease BEFREE Huntington disease (HD) is caused by a CAG repeat expansion that is translated into an abnormally long polyglutamine (polyQ) tract in the huntingtin protein. 12711212 2003
Entrez Id: 3064
Gene Symbol: HTT
HTT
1.000 GeneticVariation disease BEFREE Huntington's disease (HD) is a genetically dominant neurodegenerative condition caused by an unique mutation in the disease gene huntingtin. 14526190 2003
Entrez Id: 3064
Gene Symbol: HTT
HTT
1.000 Biomarker disease BEFREE Huntington's disease (HD) is caused by a polyglutamine expansion in the protein huntingtin. 14557053 2003
Entrez Id: 3064
Gene Symbol: HTT
HTT
1.000 GeneticVariation disease BEFREE Huntington's disease (HD) is a fully penetrant, autosomal dominantly inherited disorder associated with abnormal expansions of a stretch of perfect CAG repeats in the 5' part of the IT15 gene. 15040808 2004
Entrez Id: 3064
Gene Symbol: HTT
HTT
1.000 Biomarker disease BEFREE Huntington's disease (HD) is a fatal neurodegenerative disease caused by a CAG repeat expansion coding for an expanded polyglutamine tract in the huntingtin protein. 15147313 2004
Entrez Id: 3064
Gene Symbol: HTT
HTT
1.000 Biomarker disease BEFREE Huntington's disease (HD) is initiated by an abnormally expanded polyglutamine stretch in the huntingtin protein, conferring a novel property on the protein that leads to the loss of striatal neurons. 15163634 2004
Entrez Id: 3064
Gene Symbol: HTT
HTT
1.000 Biomarker disease BEFREE Huntington disease (HD) is an inherited neurodegenerative disease caused by expansion of a polyglutamine tract near the N terminus of the protein huntingtin, leading to dramatic loss of striatal medium-sized spiny GABAergic projection neurons (MSNs). 15240759 2004
Entrez Id: 3064
Gene Symbol: HTT
HTT
1.000 GeneticVariation disease 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
1.000 Biomarker disease BEFREE Huntington's disease is caused by an abnormal polyglutamine expansion within the protein huntingtin and is characterized by microscopic inclusion bodies of aggregated huntingtin and by the death of selected types of neuron. 15483602 2004
Entrez Id: 3064
Gene Symbol: HTT
HTT
1.000 GeneticVariation disease BEFREE Huntington's disease (HD) is a devastating neurodegenerative disorder caused by an expanded CAG repeat in the gene encoding huntingtin, a protein of unknown function. 15525658 2005
Entrez Id: 3064
Gene Symbol: HTT
HTT
1.000 GeneticVariation disease BEFREE Huntington's disease (HD) is a fully penetrant autosomal-dominant inherited neurological disorder caused by expanded CAG repeats in the Huntingtin gene. 15548647 2004
Entrez Id: 3064
Gene Symbol: HTT
HTT
1.000 Biomarker disease BEFREE Huntington's disease (HD) is a progressive neurodegenerative disorder caused by an expansion in the number of polyglutamine-encoding CAG repeats in the gene that encodes the huntingtin (htt) protein. 15598740 2004
Entrez Id: 3064
Gene Symbol: HTT
HTT
1.000 Biomarker disease BEFREE Huntington's disease is caused by a polyglutamine expansion in the protein huntingtin. 15629196 2005
Entrez Id: 3064
Gene Symbol: HTT
HTT
1.000 GeneticVariation disease BEFREE Huntington's disease (HD) is caused by polyglutamine expansion (exp) in huntingtin. 15695335 2005