Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.120 AlteredExpression group BEFREE We propose a core pathway of transcription regulators, including Hdac4, involved in chromatin condensation and transcriptional repression, and one of its targets, the transcription factor Twist1, as potential drivers of the ID and infantile spasms in patients with ARX polyalanine expansion mutations. 27798109 2016
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.120 GeneticVariation group BEFREE Large deletions including the TWIST gene have been identified in some patients with learning disabilities or mental retardation, which are not typically part of the Saethre-Chotzen syndrome. 10649491 2000
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.120 Biomarker group HPO