FGFR2, fibroblast growth factor receptor 2, 2263

N. diseases: 731; N. variants: 141
Disease: Pfeiffer Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1358919643
rs1358919643
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0220658
Disease:
Pfeiffer Syndrome 		A 0.700 CausalMutation CLINVAR The mutations in FGFR2-associated craniosynostoses are clustered in five structural elements of immunoglobulin-like domain III of the receptor. 9521581 1998
dbSNP: rs1358919643
rs1358919643
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0220658
Disease:
Pfeiffer Syndrome 		A 0.700 CausalMutation CLINVAR Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome. 7795583 1995