Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
0.030 GeneticVariation disease BEFREE The former arises from somatic FGFR3 mutations and Apert syndrome arises from germline FGFR2 mutations. 23880303 2013
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
0.030 GeneticVariation disease BEFREE The majority of the somatic mutations identified were identical to germline activating mutations in FGFR2 and FGFR3 that cause Apert Syndrome, Beare-Stevenson Syndrome, hypochondroplasia, achondroplasia and SADDAN syndrome. 17525745 2007
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
0.030 Biomarker disease BEFREE The mutations in Pfeiffer (FGFR1), Muenke (FGFR3), and Apert syndrome (FGFR2) are caused by the same amino acid substitution in a highly conserved region of the Ig II-III linker region of these proteins, which suggests that these receptor tyrosine kinases have an overlapping function in suture biology. 17552943 2007