Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.970 GeneticVariation disease UNIPROT The present results are in accordance with other previously published reports and strengthen the importance of the FGFR2 gene in the pathogenesis of Beare-Stevenson syndrome. 12000365 2002
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.970 Biomarker disease BEFREE The present results are in accordance with other previously published reports and strengthen the importance of the FGFR2 gene in the pathogenesis of Beare-Stevenson syndrome. 12000365 2002
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.970 GeneticVariation disease BEFREE The phenotype was consistent with that of a mild presentation of Beare-Stevenson syndrome but molecular analysis of the IgIII-transmembrane linker region and the transmembrane domain of the gene encoding the FGFR2 receptor, revealed wild-type sequence only. 11424131 2001
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.970 CausalMutation disease CLINVAR Mutations in fibroblast growth factor receptor 2 gene and craniosynostotic syndromes in Japanese children. 9586546 1998
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.970 CausalMutation disease CLINVAR Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses. 9677057 1998
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.970 GeneticVariation disease BEFREE We now describe the detection of FGFR2 mutations in the Beare-Stevenson cutis gyrata syndrome. 8696350 1996
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.970 GeneticVariation disease CLINVAR Spectrum of craniosynostosis phenotypes associated with novel mutations at the fibroblast growth factor receptor 2 locus. 8946174 1996
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.970 Biomarker disease GENOMICS_ENGLAND We now describe the detection of FGFR2 mutations in the Beare-Stevenson cutis gyrata syndrome. 8696350 1996
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.970 CausalMutation disease CLINVAR FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing. 8644708 1996
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.970 CausalMutation disease CLINVAR FGFR2 mutation in clinically nonclassifiable autosomal dominant craniosynostosis with pronounced phenotypic variation. 8957519 1996
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.970 GeneticVariation disease UNIPROT We now describe the detection of FGFR2 mutations in the Beare-Stevenson cutis gyrata syndrome. 8696350 1996
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.970 CausalMutation disease CLINVAR A Crouzon syndrome synonymous mutation activates a 5' splice site within the IIIc exon of the FGFR2 gene. 7558045 1995
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.970 CausalMutation disease CLINVAR Effect on splicing of a silent FGFR2 mutation in Crouzon syndrome. 7773284 1995
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.970 CausalMutation disease CLINVAR Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome. 7655462 1995
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.970 CausalMutation disease CLINVAR Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. 7874170 1994
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.970 CausalMutation disease CLINVAR Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. 7987400 1994
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.970 Biomarker disease CTD_human
Entrez Id: 2260
Gene Symbol: FGFR1
FGFR1 		0.300 Biomarker disease GENOMICS_ENGLAND Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. 12627230 2003