Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Cutis Gyrata Syndrome of Beare And Stevenson
0.970 Biomarker disease GENOMICS_ENGLAND Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development. 28425981 2017
Cutis Gyrata Syndrome of Beare And Stevenson
0.970 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Cutis Gyrata Syndrome of Beare And Stevenson
0.970 CausalMutation disease CLINVAR FGFR-associated craniosynostosis syndromes and gastrointestinal defects. 27481450 2016
Cutis Gyrata Syndrome of Beare And Stevenson
0.970 GeneticVariation disease BEFREE Beare-Stevenson syndrome (BSS) is a rare FGFR2-associated craniosynostosis syndrome with a higher rate of sudden unexplained death than related conditions such as Apert, Pfeiffer, and Crouzon syndromes. 25706251 2015
Cutis Gyrata Syndrome of Beare And Stevenson
0.970 CausalMutation disease CLINVAR FGFR2 mutation in 46,XY sex reversal with craniosynostosis. 26362256 2015
Cutis Gyrata Syndrome of Beare And Stevenson
0.970 CausalMutation disease CLINVAR Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants. 25271085 2015
Cutis Gyrata Syndrome of Beare And Stevenson
0.970 GeneticVariation disease CLINVAR A novel mutation in FGFR2. 25425289 2015
Cutis Gyrata Syndrome of Beare And Stevenson
0.970 CausalMutation disease CLINVAR Identification of causative mutation in a Korean family with Crouzon syndrome using whole exome sequencing. 25361936 2014
Cutis Gyrata Syndrome of Beare And Stevenson
0.970 GeneticVariation disease CLINVAR Predicting the impact of deleterious mutations in the protein kinase domain of FGFR2 in the context of function, structure, and pathogenesis--a bioinformatics approach. 23754559 2013
Cutis Gyrata Syndrome of Beare And Stevenson
0.970 GeneticVariation disease CLINVAR Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients. 24127277 2013
Cutis Gyrata Syndrome of Beare And Stevenson
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
Cutis Gyrata Syndrome of Beare And Stevenson
0.970 CausalMutation disease CLINVAR FGFR1 and FGFR2 mutations in Pfeiffer syndrome. 23348274 2013
Cutis Gyrata Syndrome of Beare And Stevenson
0.970 Biomarker disease MGD p38 Inhibition ameliorates skin and skull abnormalities in Fgfr2 Beare-Stevenson mice. 22585574 2012
Cutis Gyrata Syndrome of Beare And Stevenson
0.970 Biomarker disease GENOMICS_ENGLAND Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling. 22387015 2012
Cutis Gyrata Syndrome of Beare And Stevenson
0.970 GermlineCausalMutation disease ORPHANET Nosology and classification of genetic skeletal disorders: 2010 revision. 21438135 2011
Cutis Gyrata Syndrome of Beare And Stevenson
0.970 GeneticVariation disease BEFREE Second case of Beare-Stevenson syndrome with an FGFR2 Ser372Cys mutation. 18247426 2008
Cutis Gyrata Syndrome of Beare And Stevenson
0.970 GeneticVariation disease BEFREE This is the 8th report of Beare-Stevenson syndrome in the literature, which was confirmed by the detection of a Tyr375Cys mutation in the fibroblast growth factor receptor 2 (FGFR2) gene. 17449949 2007
Cutis Gyrata Syndrome of Beare And Stevenson
0.970 Biomarker disease GENOMICS_ENGLAND Mutations in different components of FGF signaling in LADD syndrome. 16501574 2006
Cutis Gyrata Syndrome of Beare And Stevenson
0.970 CausalMutation disease CLINVAR Clinical dividends from the molecular genetic diagnosis of craniosynostosis. 16838304 2006
Cutis Gyrata Syndrome of Beare And Stevenson
0.970 Biomarker disease GENOMICS_ENGLAND Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain. 16061565 2005
Cutis Gyrata Syndrome of Beare And Stevenson
0.970 CausalMutation disease CLINVAR Novel phenotype of craniosynostosis and ocular anterior chamber dysgenesis with a fibroblast growth factor receptor 2 mutation. 16158432 2005
Cutis Gyrata Syndrome of Beare And Stevenson
0.970 GeneticVariation disease BEFREE Beare-Stevenson syndrome: Two South American patients with FGFR2 analysis. 12900900 2003
Cutis Gyrata Syndrome of Beare And Stevenson
0.970 CausalMutation disease CLINVAR Autistic disorder and chromosomal mosaicism 46,XY[123]/46,XY,del(20)(pter --> p12.2)[10]. 12884434 2003
Cutis Gyrata Syndrome of Beare And Stevenson
0.970 CausalMutation disease CLINVAR Screening of patients with craniosynostosis: molecular strategy. 12884424 2003
Cutis Gyrata Syndrome of Beare And Stevenson
0.970 GeneticVariation disease CLINVAR [Clinical curative effect of dengzhanhua injection on acute cerebral infarction: a report of 100 cases]. 12575301 2002