FGFR2, fibroblast growth factor receptor 2, 2263

N. diseases: 731; N. variants: 141
Disease: SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918507
rs121918507
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C1865070
Disease:
SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION 		0.800 GeneticVariation UNIPROT A molecular brake in the kinase hinge region regulates the activity of receptor tyrosine kinases. 17803937 2007
dbSNP: rs121918507
rs121918507
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C1865070
Disease:
SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION 		0.800 GeneticVariation UNIPROT Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain. 16061565 2005
dbSNP: rs121918507
rs121918507
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C1865070
Disease:
SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION 		C 0.800 CausalMutation CLINVAR