Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability
0.110 GeneticVariation disease BEFREE We identified de novo mutations in STXBP1 (nonsense, p.R388X; splicing, c.169+1G>A) in two patients with severe mental retardation and nonsyndromic epilepsy. 19557857 2009
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability
0.110 Biomarker disease HPO
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability
0.110 GeneticVariation disease CLINVAR