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 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 The molecular and cellular basis of Apert syndrome. 25343114 2013
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: 2263
Gene Symbol: FGFR2
FGFR2 		0.400 GeneticVariation group CLINVAR The molecular and cellular basis of Apert syndrome. 25343114 2013
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.400 GeneticVariation group CLINVAR Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients. 24127277 2013
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		0.400 CausalMutation group CLINVAR Mutations in WNT1 cause different forms of bone fragility. 23499309 2013
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.400 GeneticVariation group CLINVAR Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria. 24136893 2013
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 GeneticVariation group CLINVAR Diagnostic exome sequencing in persons with severe intellectual disability. 23033978 2012
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: 1499
Gene Symbol: CTNNB1
CTNNB1 		0.400 GeneticVariation group CLINVAR Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. 22495309 2012
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.400 GeneticVariation group CLINVAR Lifetime cancer risks in individuals with germline PTEN mutations. 22252256 2012
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		0.400 GeneticVariation group CLINVAR Specific armadillo repeat sequences facilitate β-catenin nuclear transport in live cells via direct binding to nucleoporins Nup62, Nup153, and RanBP2/Nup358. 22110128 2012
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		0.400 CausalMutation group CLINVAR Specific armadillo repeat sequences facilitate β-catenin nuclear transport in live cells via direct binding to nucleoporins Nup62, Nup153, and RanBP2/Nup358. 22110128 2012
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		0.400 CausalMutation group CLINVAR Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. 22495309 2012
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.400 CausalMutation group CLINVAR Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling. 22387015 2012
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		0.400 GeneticVariation group CLINVAR Wnt/β-catenin signaling and disease. 22682243 2012
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.400 GeneticVariation group CLINVAR Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling. 22387015 2012
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		0.400 Biomarker group CTD_human Polycyclic aromatic hydrocarbons and dibutyl phthalate disrupt dorsal-ventral axis determination via the Wnt/β-catenin signaling pathway in zebrafish embryos. 22975441 2012
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		0.400 GeneticVariation group CLINVAR Maintaining embryonic stem cell pluripotency with Wnt signaling. 21903672 2011
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		0.400 CausalMutation group CLINVAR Maintaining embryonic stem cell pluripotency with Wnt signaling. 21903672 2011
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.400 GeneticVariation group CLINVAR A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands. 21194675 2011
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 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: 5728
Gene Symbol: PTEN
PTEN 		0.400 GeneticVariation group CLINVAR PTEN hamartoma tumor syndrome: an overview. 19668082 2009