FGFR2, fibroblast growth factor receptor 2, 2263

N. diseases: 731; N. variants: 141
Disease: BENT BONE DYSPLASIA SYNDROME ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906678
rs387906678
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C3281247
Disease:
BENT BONE DYSPLASIA SYNDROME 		0.800 GeneticVariation UNIPROT Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling. 22387015 2012
dbSNP: rs387906678
rs387906678
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C3281247
Disease:
BENT BONE DYSPLASIA SYNDROME 		C 0.800 CausalMutation CLINVAR