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 CausalMutation disease CLINVAR FGFR2 mutation in 46,XY sex reversal with craniosynostosis. 26362256 2015
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 Clinical dividends from the molecular genetic diagnosis of craniosynostosis. 16838304 2006
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.970 CausalMutation disease CLINVAR Novel phenotype of craniosynostosis and ocular anterior chamber dysgenesis with a fibroblast growth factor receptor 2 mutation. 16158432 2005
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.970 CausalMutation disease CLINVAR Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants. 25271085 2015
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.970 CausalMutation disease CLINVAR Autistic disorder and chromosomal mosaicism 46,XY[123]/46,XY,del(20)(pter --> p12.2)[10]. 12884434 2003
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 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 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 CausalMutation disease CLINVAR Identification of causative mutation in a Korean family with Crouzon syndrome using whole exome sequencing. 25361936 2014
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.970 CausalMutation disease CLINVAR FGFR-associated craniosynostosis syndromes and gastrointestinal defects. 27481450 2016
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.970 CausalMutation disease CLINVAR Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients. 24127277 2013
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.970 CausalMutation disease CLINVAR Screening of patients with craniosynostosis: molecular strategy. 12884424 2003
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.970 CausalMutation disease CLINVAR FGFR1 and FGFR2 mutations in Pfeiffer syndrome. 23348274 2013
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 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 Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. 7987400 1994
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.970 GermlineCausalMutation disease ORPHANET Nosology and classification of genetic skeletal disorders: 2010 revision. 21438135 2011