Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.700 GeneticVariation CLINVAR A molecular brake in the kinase hinge region regulates the activity of receptor tyrosine kinases. 17803937

2007
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.700 CausalMutation CLINVAR

Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.500 GeneticVariation CLINVAR

Entrez Id: 58499
Gene Symbol: ZNF462
ZNF462
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.400 CausalMutation CLINVAR

Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.200 CausalMutation CLINVAR Achondroplasia with synostosis of multiple sutures. 21739570

2011
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.200 CausalMutation CLINVAR FGFR3 mutations and the skin: report of a patient with a FGFR3 gene mutation, acanthosis nigricans, hypochondroplasia and hyperinsulinemia and review of the literature. 20453470

2010
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.200 CausalMutation CLINVAR A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia. 7670477

1995
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.200 CausalMutation CLINVAR A second family with CATSHL syndrome: Confirmatory report of another unique FGFR3 syndrome. 27139183

2016
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.200 CausalMutation CLINVAR FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry. 25614871

2014
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.200 CausalMutation CLINVAR Acanthosis nigricans and hypochondroplasia in a child with a K650Q mutation in FGFR3. 21510009

2011
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.200 CausalMutation CLINVAR Muenke syndrome: An international multicenter natural history study. 26740388

2016
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.200 CausalMutation CLINVAR A common FGFR3 gene mutation in hypochondroplasia. 8589686

1995
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.200 CausalMutation CLINVAR Analysis of STAT1 activation by six FGFR3 mutants associated with skeletal dysplasia undermines dominant role of STAT1 in FGFR3 signaling in cartilage. 19088846

2008
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.200 CausalMutation CLINVAR Genetically confirmed thanatophoric dysplasia with fibroblast growth factor receptor 3 mutation. 28249712

2017
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.200 CausalMutation CLINVAR Mutations within or upstream of the basic helix-loop-helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome. 10094188

1999
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.200 CausalMutation CLINVAR Sixteen years and counting: the current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasias. 22045636

2012
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.200 CausalMutation CLINVAR Pathogenic activation of receptor tyrosine kinases in mammalian membranes. 18976668

2008
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.200 CausalMutation CLINVAR Mutant fibroblast growth factor receptor 3 induces intracellular signaling and cellular transformation in a cell type- and mutation-specific manner. 19749790

2009
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.200 CausalMutation CLINVAR Achondroplasia-hypochondroplasia complex in a newborn infant. 10360392

1999
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.200 CausalMutation CLINVAR Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype. 11055896

2000
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.200 CausalMutation CLINVAR The A391E mutation enhances FGFR3 activation in the absence of ligand. 21536014

2011
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.200 CausalMutation CLINVAR A newborn with acanthosis nigricans: can it be Crouzon syndrome with acanthosis nigricans? 20199409

2010
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.200 CausalMutation CLINVAR Effect of thanatophoric dysplasia type I mutations on FGFR3 dimerization. 25606676

2015
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.200 CausalMutation CLINVAR Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound. 24476948

2014
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		0.200 CausalMutation CLINVAR Association of achondroplasia with sagittal synostosis and scaphocephaly in two patients, an underestimated condition? 25691418

2015