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: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
0.130 Biomarker disease BEFREE Levels of mHTT, as well as N-, and C-terminal and mid-region huntingtin were measured in the PBMCs using ELISA-based Meso Scale Discovery (MSD) electrochemiluminescence immunoassay platforms, and we evaluated the relationship between different HTT species, disease stage, and brain atrophy on magnetic resonance imaging. 29272284 2017
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
0.130 GeneticVariation disease BEFREE Overexpression of Sirt1 improves motor function, reduces brain atrophy and attenuates mutant-HTT-mediated metabolic abnormalities in Huntington's disease mice. 22179319 2011
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
0.130 GeneticVariation disease BEFREE We correlated trinucleotide CAG repeat numbers in the huntingtin gene with the regional brain atrophy and clinical phenotype in 23 adult autopsy cases of Huntington's disease (HD). 9143014 1997
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy
0.130 Biomarker disease HPO