Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.410 GeneticVariation 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

2012
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.410 Biomarker CTD_human Syndromic craniosynostosis with elbow joint contracture. 16465081

2006
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.410 Biomarker HPO