Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION
0.700 GeneticVariation disease UNIPROT A molecular brake in the kinase hinge region regulates the activity of receptor tyrosine kinases. 17803937 2007
SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION
0.700 CausalMutation disease CLINVAR Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain. 16061565 2006
SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION
0.700 GeneticVariation disease UNIPROT Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain. 16061565 2006
SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION
0.700 CausalMutation disease CLINVAR A further mutation of the FGFR2 tyrosine kinase domain in mild Crouzon syndrome. 15523492 2005
SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION
0.700 Biomarker disease CTD_human
SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION
0.700 GermlineCausalMutation disease ORPHANET