Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.400 CausalMutation group CLINVAR Genotype-phenotype analysis in Apert syndrome suggests opposite effects of the two recurrent mutations on syndactyly and outcome of craniofacial surgery. 10735635 2000
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		0.400 GeneticVariation group CLINVAR The product of the Drosophila segment polarity gene armadillo is part of a multi-protein complex resembling the vertebrate adherens junction. 8227220 1993
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		0.400 GeneticVariation group CLINVAR Diagnostic exome sequencing in persons with severe intellectual disability. 23033978 2012
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.400 CausalMutation group CLINVAR Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain. 16061565 2005
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		0.400 CausalMutation group CLINVAR Diagnostic exome sequencing in persons with severe intellectual disability. 23033978 2012
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.400 GeneticVariation group CLINVAR Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations. 9585583 1998
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.400 CausalMutation group CLINVAR "Century of Jackson-Weiss syndrome: further definition of clinical and radiographic findings in ""lost"" descendants of the original kindred." 11343323 2001
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.400 GeneticVariation group CLINVAR FGFR2 mutation in 46,XY sex reversal with craniosynostosis. 26362256 2015
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		0.400 CausalMutation group CLINVAR The product of the Drosophila segment polarity gene armadillo is part of a multi-protein complex resembling the vertebrate adherens junction. 8227220 1993
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		0.400 CausalMutation group CLINVAR LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. 11719191 2001
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.400 GeneticVariation group CLINVAR Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis. 15793702 2005
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.400 CausalMutation group CLINVAR The molecular and cellular basis of Apert syndrome. 25343114 2013
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.400 CausalMutation group CLINVAR Evidence for digenic inheritance in some cases of Antley-Bixler syndrome? 10633130 2000
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		0.400 CausalMutation group CLINVAR A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency. 24668549 2014
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		0.400 GeneticVariation group CLINVAR Wnt/beta-catenin pathway. 15713948 2005
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		0.400 GeneticVariation group CLINVAR Purification of a 92-kDa cytoplasmic protein tightly associated with the cell-cell adhesion molecule E-cadherin (uvomorulin). Characterization and extractability of the protein complex from the cell cytostructure. 1999432 1991
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		0.400 GeneticVariation group CLINVAR Canonical Wnt/beta-catenin signaling prevents osteoblasts from differentiating into chondrocytes. 15866163 2005
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.400 GeneticVariation group CLINVAR Novel FGFR2 deletion in a patient with Beare-Stevenson-like syndrome. 19610084 2009
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.400 Biomarker group CTD_human An important role for the IIIb isoform of fibroblast growth factor receptor 2 (FGFR2) in mesenchymal-epithelial signalling during mouse organogenesis. 10631169 2000
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.400 CausalMutation group CLINVAR Beare-Stevenson cutis gyrata syndrome. 1519658 1992
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		0.400 GeneticVariation group CLINVAR Mutations in WNT1 cause different forms of bone fragility. 23499309 2013
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		0.400 GeneticVariation group CLINVAR De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum. 25326669 2015
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		0.400 GeneticVariation group CLINVAR Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals. 27915094 2017
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.400 GeneticVariation group CLINVAR Beare-Stevenson cutis gyrata syndrome. 1519658 1992
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.400 GeneticVariation group CLINVAR Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly. 17427195 2007