rs121918507, FGFR2

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION
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
SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION
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
SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION
CUI: C1865070
Disease: SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION
0.800 CausalMutation CLINVAR
Craniofacial dysostosis type 1
CUI: C2931196
Disease: Craniofacial dysostosis type 1
0.710 GeneticVariation BEFREE We report a family heterozygous for a newly identified mutation in the tyrosine kinase I domain of the FGFR2 gene (1576A > G, encoding the missense substitution Lys526Glu), associated with variable expressivity of Crouzon syndrome, including clinical nonpenetrance. 15523492 2005
Craniofacial dysostosis type 1
CUI: C2931196
Disease: Craniofacial dysostosis type 1
0.710 CausalMutation CLINVAR
Craniofacial Dysostosis
CUI: C0010273
Disease: Craniofacial Dysostosis
0.010 GeneticVariation BEFREE We report a family heterozygous for a newly identified mutation in the tyrosine kinase I domain of the FGFR2 gene (1576A > G, encoding the missense substitution Lys526Glu), associated with variable expressivity of Crouzon syndrome, including clinical nonpenetrance. 15523492 2005