Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		0.400 CausalMutation group CLINVAR Canonical Wnt/beta-catenin signaling prevents osteoblasts from differentiating into chondrocytes. 15866163 2005
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.400 CausalMutation group CLINVAR Mutations in fibroblast growth factor receptors: phenotypic consequences during eukaryotic development. 7573032 1995
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		0.400 CausalMutation group CLINVAR Wnt/beta-catenin signaling in mesenchymal progenitors controls osteoblast and chondrocyte differentiation during vertebrate skeletogenesis. 15866164 2005
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		0.400 CausalMutation group CLINVAR Wnt/beta-catenin pathway. 15713948 2005
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		0.400 CausalMutation group CLINVAR Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals. 27915094 2017
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		0.400 CausalMutation group CLINVAR Wnt/β-catenin signaling and disease. 22682243 2012
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		0.400 CausalMutation group CLINVAR Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features. 24614104 2014
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.400 CausalMutation group 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 		0.400 CausalMutation group CLINVAR Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. 7987400 1994
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		0.400 CausalMutation group CLINVAR Establishment of the dorso-ventral axis in Xenopus embryos is presaged by early asymmetries in beta-catenin that are modulated by the Wnt signaling pathway. 9060476 1997
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: 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 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: 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 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: 2263
Gene Symbol: FGFR2
FGFR2 		0.400 CausalMutation group CLINVAR Beare-Stevenson cutis gyrata syndrome. 1519658 1992
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.400 CausalMutation group CLINVAR Rare mutations of FGFR2 causing apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamily. 18726952 2009
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.400 CausalMutation group CLINVAR Revisiting Crouzon syndrome: reviewing the background and management of a multifaceted disease. 25245177 2014
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.400 CausalMutation group CLINVAR Phenotypic variation in LADD syndrome. 4078868 1985
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.400 CausalMutation group CLINVAR Genetic heterogeneity of Saethre-Chotzen syndrome, due to TWIST and FGFR mutations. 9585583 1998
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		0.400 CausalMutation group CLINVAR Large-scale discovery of novel genetic causes of developmental disorders. 25533962 2015