HTT, huntingtin, 3064

N. diseases: 188; N. variants: 32
Disease: Seizures ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036572
Disease: Seizures
Seizures 		0.120 GeneticVariation phenotype BEFREE Removal of the neo cassette resulted in a ∼2 fold increase in mutant Htt and rescue of fatal seizures, indicating that the early death phenotype of Q175F mice is caused by Htt deficiency rather than by mutant Htt. 27378694 2016
CUI: C0036572
Disease: Seizures
Seizures 		0.120 GeneticVariation phenotype BEFREE Because analysis of the Huntingtin gene revealed normal alleles and various of the patients had seizures, we analysed the B37 gene and found significantly elongated CAG repeats as have been reported in DRPLA. 7868125 1995
CUI: C0036572
Disease: Seizures
Seizures 		0.120 Biomarker phenotype HPO