Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
0.780 CausalMutation CLINVAR The A391E mutation enhances FGFR3 activation in the absence of ligand. 21536014

2011

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
0.780 CausalMutation CLINVAR Molecular tests identified the FGFR3 Ala391Glu substitution confirming the diagnosis of CAN. 20199409

2010

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
0.780 CausalMutation CLINVAR Pathogenic activation of receptor tyrosine kinases in mammalian membranes. 18976668

2008

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
0.780 CausalMutation CLINVAR Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia. 16912704

2006

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
0.780 CausalMutation CLINVAR Effect of transmembrane and kinase domain mutations on fibroblast growth factor receptor 3 chimera signaling in PC12 cells. A model for the control of receptor tyrosine kinase activation. 9857065

1998

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
0.780 CausalMutation CLINVAR Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans. 7493034

1995