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 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 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 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: 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: 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 GeneticVariation group CLINVAR Clinical variability in patients with Apert's syndrome. 10067911 1999
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 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 GeneticVariation group CLINVAR FGFR2 mutation in 46,XY sex reversal with craniosynostosis. 26362256 2015
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: 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: 1499
Gene Symbol: CTNNB1
CTNNB1 		0.400 GeneticVariation group CLINVAR Mutations in WNT1 cause different forms of bone fragility. 23499309 2013