FGFR3, fibroblast growth factor receptor 3, 2261

N. diseases: 654; N. variants: 55
Disease: CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2677099
Disease: CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder) 		0.780 GeneticVariation disease BEFREE Crouzon syndrome with acanthosis nigricans (CAN) is caused by a mutation in the fibroblast growth factor receptor ( FGFR) 3 gene that presents clinically as Crouzonoid craniofacial features in association with other anomalies such as acanthosis nigricans and benign odontogenic tumors. 29351036 2018
CUI: C2677099
Disease: CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder) 		0.780 GeneticVariation disease BEFREE Crouzon syndrome with acanthosis nigricans is caused by the pathogenic variant c.1172C>A (p.Ala391Glu) in the FGFR3 gene. 28181399 2017
CUI: C2677099
Disease: CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder) 		0.780 Biomarker disease CTD_human The A391E mutation in fibroblast growth factor receptor 3 (FGFR3) is the genetic cause for Crouzon syndrome with Acanthosis Nigricans. 23437153 2013
CUI: C2677099
Disease: CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder) 		0.780 GeneticVariation disease BEFREE The A391E mutation in fibroblast growth factor receptor 3 (FGFR3) is the genetic cause for Crouzon syndrome with Acanthosis Nigricans. 23437153 2013
CUI: C2677099
Disease: CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder) 		0.780 CausalMutation disease CLINVAR The A391E mutation enhances FGFR3 activation in the absence of ligand. 21536014 2011
CUI: C2677099
Disease: CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder) 		0.780 Biomarker disease GENOMICS_ENGLAND Molecular tests identified the FGFR3 Ala391Glu substitution confirming the diagnosis of CAN. 20199409 2010
CUI: C2677099
Disease: CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder) 		0.780 CausalMutation disease CLINVAR Molecular tests identified the FGFR3 Ala391Glu substitution confirming the diagnosis of CAN. 20199409 2010
CUI: C2677099
Disease: CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder) 		0.780 CausalMutation disease CLINVAR Pathogenic activation of receptor tyrosine kinases in mammalian membranes. 18976668 2008
CUI: C2677099
Disease: CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder) 		0.780 GeneticVariation disease BEFREE The molecular abnormality associated with Crouzon syndrome with acanthosis nigricans (CAN) is a transition in the transmembrane domain of the FGFR3 gene that results in an Ala391Glu mutation. 17935505 2007
CUI: C2677099
Disease: CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder) 		0.780 GeneticVariation disease UNIPROT The molecular abnormality associated with Crouzon syndrome with acanthosis nigricans (CAN) is a transition in the transmembrane domain of the FGFR3 gene that results in an Ala391Glu mutation. 17935505 2007
CUI: C2677099
Disease: CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder) 		0.780 GeneticVariation disease BEFREE An example of a TM domain pathogenic mutation is the Ala391-->Glu mutation in fibroblast growth factor receptor 3 (FGFR3), linked to Crouzon syndrome with acanthosis nigricans, as well as to bladder cancer. 16384584 2006
CUI: C2677099
Disease: CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder) 		0.780 CausalMutation disease CLINVAR Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia. 16912704 2006
CUI: C2677099
Disease: CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder) 		0.780 Biomarker disease GENOMICS_ENGLAND Mutations in different components of FGF signaling in LADD syndrome. 16501574 2006
CUI: C2677099
Disease: CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder) 		0.780 GeneticVariation disease BEFREE Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3. 11426459 2001
CUI: C2677099
Disease: CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder) 		0.780 GeneticVariation disease BEFREE Mutations in the FGFR3 gene also result in hypochondroplasia, the lethal thanatophoric dysplasias, the recently described SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) dysplasia, and two craniosynostosis disorders: Muenke coronal craniosynostosis and Crouzon syndrome with acanthosis nigricans. 10696568 2000
CUI: C2677099
Disease: CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder) 		0.780 CausalMutation disease 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
CUI: C2677099
Disease: CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder) 		0.780 GeneticVariation disease UNIPROT Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans. 7493034 1995
CUI: C2677099
Disease: CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder) 		0.780 Biomarker disease GENOMICS_ENGLAND Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans. 7493034 1995
CUI: C2677099
Disease: CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder) 		0.780 Biomarker disease GENOMICS_ENGLAND Stop codon FGFR3 mutations in thanatophoric dwarfism type 1. 7647778 1995
CUI: C2677099
Disease: CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder) 		0.780 GeneticVariation disease BEFREE Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans. 7493034 1995
CUI: C2677099
Disease: CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder) 		0.780 CausalMutation disease CLINVAR Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans. 7493034 1995
CUI: C2677099
Disease: CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder) 		0.780 Biomarker disease GENOMICS_ENGLAND Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. 8078586 1994
CUI: C2677099
Disease: CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder) 		0.780 Biomarker disease GENOMICS_ENGLAND
CUI: C2677099
Disease: CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder)
CROUZON SYNDROME WITH ACANTHOSIS NIGRICANS (disorder) 		0.780 Biomarker disease GENOMICS_ENGLAND