HTT, huntingtin, 3064

N. diseases: 188; N. variants: 32
Disease: nervous system disorder ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.100 GeneticVariation group BEFREE Huntington's disease (HD) is a fatal genetic neurological disorder caused by a mutation in the human Huntingtin (HTT) gene. 30292559 2019
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.100 Biomarker group BEFREE R6/2 mice contain an N-terminal fragment of human huntingtin with an expanded polyQ and develop a neurological disease resembling Huntington disease. 28398721 2017
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.100 Biomarker group BEFREE Bioinformatics analyses revealed that most of the 166 brain substrates identified interacted with huntingtin, the amyloid precursor protein or α-synuclein and that neurological disease was the most significant canonical pathway associated with the substrates. 28132929 2017
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.100 GeneticVariation group BEFREE Huntington disease (HD) is a devastating neurological disorder caused by an extended CAG repeat in exon 1 of the gene that encodes the huntingtin (HTT) protein. 26826449 2016
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.100 GeneticVariation group BEFREE Huntington's disease (HD) is a devastating neurological disorder that is caused by an expansion of the poly-Q tract in exon 1 of the Huntingtin gene (HTT). 26010866 2015
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.100 Biomarker group BEFREE Mutant huntingtin (HTT) protein is the cause of Huntington's disease (HD), an incurable neurological disorder. 24694346 2014
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.100 GeneticVariation group BEFREE Huntington's disease (HD) is an autosomal inherited neurological disease caused by a CAG-repeat expansion in the first exon of huntingtin gene encoding for the huntingtin protein (Htt). 24951540 2014
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.100 Biomarker group BEFREE Mutant huntingtin (HTT) protein causes Huntington disease (HD), an incurable neurological disorder. 22939619 2012
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.100 GeneticVariation group BEFREE Huntington's disease (HD) is an incurable neurological disorder caused by an abnormal glutamine repeat expansion in the huntingtin (Htt) protein. 22589249 2012
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.100 Biomarker group BEFREE Huntington disease (HD) is an inherited neurological disorder caused by a polyglutamine expansion in the protein huntingtin and is characterized by selective neurodegeneration that preferentially occurs in striatal medium spiny neurons. 20018729 2009
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.100 GeneticVariation group BEFREE Huntington disease (HD) is a devastating neurologic disorder that is characterized by abnormal expansion of a CAG nt repeat in the first exon of the huntingtin (htt) gene, producing a mutant protein with an elongated polyglutamine stretch. 15737634 2005
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.100 Biomarker group BEFREE Depletion of wild-type huntingtin in mouse models of neurologic diseases. 12969257 2003
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.100 GeneticVariation group BEFREE Although NH2-terminal mutant huntingtin (htt) fragments cause neurological disorders in Huntington's disease (HD), it is unclear how toxic htt fragments are generated and contribute to the disease process. 14557250 2003
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		0.100 Biomarker group 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