Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3064
Gene Symbol: HTT
HTT
0.070 GeneticVariation phenotype BEFREE The accumulation of mutated huntingtin leads to loss of GABAergic medium spiny neurons (MSNs); subsequently resulting in the development of chorea, cognitive dysfunction and psychiatric symptoms. 30409256 2019
Entrez Id: 3064
Gene Symbol: HTT
HTT
0.070 GeneticVariation phenotype BEFREE Huntington's disease (HD) is a genetic neurodegenerative disorder caused by an expansion of the CAG repeat tract in the HTT gene, leading to motor, cognitive, and psychiatric symptoms. 30067285 2018
Entrez Id: 3064
Gene Symbol: HTT
HTT
0.070 Biomarker phenotype BEFREE It is caused by increased CAG repeats number in the gene coding for huntingtin (Htt) and characterized by motor, behaviour and psychiatric symptoms, ultimately leading to death. 28396959 2017
Entrez Id: 3064
Gene Symbol: HTT
HTT
0.070 Biomarker phenotype BEFREE The cascade of events that lead to cognitive decline, motor deficits, and psychiatric symptoms in patients with Huntington disease (HD) is triggered by a polyglutamine expansion in the N-terminal region of the huntingtin (HTT) protein. 26025364 2015
Entrez Id: 3064
Gene Symbol: HTT
HTT
0.070 Biomarker phenotype BEFREE Huntington's disease is a neurodegenerative disorder characterized by motor, cognitive, and psychiatric symptoms that are caused by huntingtin gene (HTT) CAG trinucleotide repeat alleles of 36 or more units. 25726852 2015
Entrez Id: 3064
Gene Symbol: HTT
HTT
0.070 Biomarker phenotype BEFREE Huntington's disease is the result of an expanded CAG repeat in the gene that codes for the protein huntingtin and results in a progressive sequelae of motor, cognitive and psychiatric symptoms. 21440048 2012
Entrez Id: 3064
Gene Symbol: HTT
HTT
0.070 GeneticVariation phenotype BEFREE Huntington's disease (HD) is a progressive neurodegenerative disorder caused by a mutation in the gene huntingtin and characterized by motor, cognitive and psychiatric symptoms. 17975550 2008