HTT, huntingtin, 3064

N. diseases: 188; N. variants: 32
Disease: Hyperactive behavior ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		0.120 Biomarker phenotype BEFREE These data support a direct role for huntingtin in nuclear actin re-organization, and describe a new pathogenic mechanism for aberrant TG2 enzymatic hyperactivity in neurodegenerative diseases. 21355047 2011
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		0.120 GeneticVariation phenotype BEFREE Monocytes from HD subjects expressed mutant huntingtin and were pathologically hyperactive in response to stimulation, suggesting that the mutant protein triggers a cell-autonomous immune activation. 18625748 2008
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		0.120 Biomarker phenotype HPO