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
Hereditary Neurodegenerative Disorder
0.040 Biomarker disease BEFREE Huntington's disease (HD) is a hereditary neurodegenerative disorder resulting from N-terminal polyglutamine expansion in the huntingtin protein. 28391013 2017
Hereditary Neurodegenerative Disorder
0.040 GeneticVariation disease BEFREE Huntington's disease (HD) is a hereditary neurodegenerative disorder caused by a CAG repeat expansion in the huntingtin (HTT) gene. 23416527 2013
Hereditary Neurodegenerative Disorder
0.040 GeneticVariation disease BEFREE Huntington's disease (HD) is a hereditary neurodegenerative disorder resulting from the expansion of a polyglutamine tract in the huntingtin protein. 22399227 2012
Hereditary Neurodegenerative Disorder
0.040 GeneticVariation disease BEFREE Huntington's disease (HD) is a hereditary neurodegenerative disorder caused by expended CAG repeats in the Huntingtin (Htt) gene. 20107928 2010