FGFR3, fibroblast growth factor receptor 3, 2261

N. diseases: 654; N. variants: 55
Disease: Epilepsies, Partial ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		0.310 GeneticVariation disease BEFREE The present case of hypochondroplasia and FGFR3 mutation in Asn540Lys associated with characteristic abnormalities involving bilaterally medial temporal lobe structures, probable hippocampal cortex focal dysplasia, and early onset of focal epilepsy underscores the possibility of a rare syndrome. 24630288 2014
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		0.310 Biomarker disease GENOMICS_ENGLAND Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature. 18000976 2007