HTT, huntingtin, 3064

N. diseases: 188; N. variants: 32
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1285162
Disease: Degenerative disorder
Degenerative disorder
0.040 GeneticVariation group BEFREE Huntington's disease (HD) is an autosomal-dominant degenerative disease caused by a cytosine-adenine-guanine trinucleotide expansion in the Huntingtin (htt) gene. 26264576 2015
CUI: C1285162
Disease: Degenerative disorder
Degenerative disorder
0.040 GeneticVariation group BEFREE In this paper, we demonstrated that miRNAs regulate the expression of the HTT gene, whose mutation leads to Huntington's disease (HD), a hereditary degenerative disorder. 23965969 2013
CUI: C1285162
Disease: Degenerative disorder
Degenerative disorder
0.040 GeneticVariation group BEFREE Huntington disease (HD) is a degenerative disorder caused by expanded CAG repeats in exon 1 of the huntingtin gene (HTT). 21403395 2011
CUI: C1285162
Disease: Degenerative disorder
Degenerative disorder
0.040 GeneticVariation group BEFREE Huntington disease (HD) is an autosomal dominant degenerative disorder caused by an expanded and unstable trinucleotide repeat (CAG)n in a gene (IT-15) on chromosome 4. 7668287 1995