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 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
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.400 GeneticVariation group CLINVAR Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway. 12844284 2003
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		0.400 GeneticVariation group CLINVAR Maintaining embryonic stem cell pluripotency with Wnt signaling. 21903672 2011
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.400 GeneticVariation group CLINVAR FGFR2 mutations and associated clinical observations in two Chinese patients with Crouzon syndrome. 28901406 2017
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.400 GeneticVariation group CLINVAR PTEN hamartoma tumor syndrome: an overview. 19668082 2009
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 The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly. 19265751 2009
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: 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 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: 5728
Gene Symbol: PTEN
PTEN 		0.400 GeneticVariation group CLINVAR Hamartomatous polyposis syndromes: a review. 25022750 2014
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		0.400 GeneticVariation group CLINVAR Chondrocyte β-catenin signaling regulates postnatal bone remodeling through modulation of osteoclast formation in a murine model. 24431282 2014
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: 1499
Gene Symbol: CTNNB1
CTNNB1 		0.400 GeneticVariation 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 Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. 7987400 1994
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.400 GeneticVariation group CLINVAR Mutations in different components of FGF signaling in LADD syndrome. 16501574 2006
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.400 GeneticVariation group CLINVAR Cowden syndrome: recognizing and managing a not-so-rare hereditary cancer syndrome. 25132236 2015
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.400 GeneticVariation group CLINVAR Evidence for digenic inheritance in some cases of Antley-Bixler syndrome? 10633130 2000
Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2 		0.400 GeneticVariation group CLINVAR Non surgical treatment of Crouzon syndrome. 25209230 2014
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 GeneticVariation group CLINVAR Wnt/β-catenin signaling and disease. 22682243 2012