Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.610 GeneticVariation group BEFREE Patients with Apert syndrome (craniosynostosis syndrome due to mutations in FGFR2) are most severely affected in terms of intellectual disability, developmental delay, central nervous system anomalies, and limb anomalies. 22872262 2013
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.610 Biomarker group CTD_human Syndromic craniosynostosis with elbow joint contracture. 16465081 2006
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.610 Biomarker group GENOMICS_ENGLAND Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain. 16061565 2006
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.610 Biomarker group HPO