FGFR3, fibroblast growth factor receptor 3, 2261

N. diseases: 654; N. variants: 55
Disease: Epilepsy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.320 GeneticVariation disease BEFREE Particularly, HCH patients with Asn540Lys mutation in the FGFR3 gene are reported to have medial temporal lobe dysgenesis and epilepsy. 27485793 2017
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.320 Biomarker disease BEFREE Epilepsy in Muenke syndrome: FGFR3-related craniosynostosis. 23044018 2012
CUI: C0014544
Disease: Epilepsy
Epilepsy 		0.320 Biomarker disease GENOMICS_ENGLAND Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature. 18000976 2007