FGFR2, fibroblast growth factor receptor 2, 2263

N. diseases: 731; N. variants: 141
Disease: Craniosynostosis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918488
rs121918488
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0010278
Disease:
Craniosynostosis 		0.010 GeneticVariation BEFREE We analyzed cell proliferation and differentiation in osteoblasts obtained from patients with three genetically and clinically distinct craniosynostoses: Pfeiffer syndrome carrying the FGFR2 C342R substitution, Apert syndrome with FGFR2 P253R change, and a nonsyndromic craniosynostosis without FGFR canonic mutations, as compared with control osteoblasts. 10329600 1999
dbSNP: rs1458741036
rs1458741036
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0010278
Disease:
Craniosynostosis 		0.010 GeneticVariation BEFREE Finally, a CGC-->TCT mutation that predicts a double amino acid substitution (Ser252Phe and Pro253Ser) causes a Pfeiffer syndrome variant with mild craniosynostosis, broad thumbs and big toes, fixed extension of several digits, and only minimal cutaneous syndactyly. 9002682 1997
dbSNP: rs374608214
rs374608214
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0010278
Disease:
Craniosynostosis 		0.010 GeneticVariation BEFREE Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis. 9279753 1997