FGFR3, fibroblast growth factor receptor 3, 2261

N. diseases: 654; N. variants: 55
Disease: Epilepsy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28933068
rs28933068
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0014544
Disease:
Epilepsy 		0.010 GeneticVariation BEFREE Particularly, HCH patients with Asn540Lys mutation in the FGFR3 gene are reported to have medial temporal lobe dysgenesis and epilepsy. 27485793 2017