Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION
0.700 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
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 GermlineCausalMutation disease ORPHANET Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain. 16061565 2005
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 2005
SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION
0.700 Biomarker disease GENOMICS_ENGLAND Fibroblast growth factor receptor 2 mutations in Beare-Stevenson cutis gyrata syndrome. 8696350 1996
SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION
0.700 CausalMutation disease CLINVAR
SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION
0.700 GeneticVariation disease CLINVAR
SCAPHOCEPHALY, MAXILLARY RETRUSION, AND MENTAL RETARDATION
0.700 Biomarker disease CTD_human