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 GeneticVariation group CLINVAR Large-scale discovery of novel genetic causes of developmental disorders. 25533962 2015
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.400 GeneticVariation group CLINVAR Pfeiffer syndrome update, clinical subtypes, and guidelines for differential diagnosis. 8434615 1993
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.400 GeneticVariation group CLINVAR Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome. 10712195 2000
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.400 GeneticVariation group CLINVAR Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. 11781872 2002
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: 1499
Gene Symbol: CTNNB1
CTNNB1 		0.400 GeneticVariation group CLINVAR LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. 11719191 2001
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		0.400 GeneticVariation group CLINVAR Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR. 28575650 2017
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: 2263
Gene Symbol: FGFR2
FGFR2 		0.400 GeneticVariation group CLINVAR Mutations in fibroblast growth factor receptors: phenotypic consequences during eukaryotic development. 7573032 1995
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		0.400 GeneticVariation group CLINVAR Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features. 24614104 2014
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		0.400 GeneticVariation 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 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 GeneticVariation group CLINVAR Crystal structure of a full-length beta-catenin. 18334222 2008
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.400 GeneticVariation group CLINVAR Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations. 15805158 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: 2263
Gene Symbol: FGFR2
FGFR2 		0.400 GeneticVariation 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 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 GeneticVariation 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 GeneticVariation 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 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 GeneticVariation group CLINVAR Clinical variability in patients with Apert's syndrome. 10067911 1999