Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.320 GeneticVariation BEFREE Particularly, HCH patients with Asn540Lys mutation in the FGFR3 gene are reported to have medial temporal lobe dysgenesis and epilepsy. 27485793

2017
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.320 Biomarker BEFREE Epilepsy in Muenke syndrome: FGFR3-related craniosynostosis. 23044018

2012
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.320 Biomarker GENOMICS_ENGLAND Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature. 18000976

2007