Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
0.010 GeneticVariation disease BEFREE Given the fact that HUWE1 duplications and mutations have previously been described in several patients with X-linked cognitive impairment, our findings support the hypothesis that HUWE1 gene might be implicate in the pathogenesis of intellectual disability. 26587761 2016