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 Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR. 28575650 2017
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 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 FGFR2 mutations and associated clinical observations in two Chinese patients with Crouzon syndrome. 28901406 2017
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
0.400 CausalMutation 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 FGFR2 mutations and associated clinical observations in two Chinese patients with Crouzon syndrome. 28901406 2017
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 FGFR2 mutation in 46,XY sex reversal with craniosynostosis. 26362256 2015
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 CausalMutation group CLINVAR Large-scale discovery of novel genetic causes of developmental disorders. 25533962 2015
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
0.400 CausalMutation 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: 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 CausalMutation group CLINVAR FGFR2 mutation in 46,XY sex reversal with craniosynostosis. 26362256 2015
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 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 GeneticVariation group CLINVAR Revisiting Crouzon syndrome: reviewing the background and management of a multifaceted disease. 25245177 2014
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 Revisiting Crouzon syndrome: reviewing the background and management of a multifaceted disease. 25245177 2014
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: 1499
Gene Symbol: CTNNB1
CTNNB1
0.400 CausalMutation group CLINVAR Chondrocyte β-catenin signaling regulates postnatal bone remodeling through modulation of osteoclast formation in a murine model. 24431282 2014
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 Biochemical screening and PTEN mutation analysis in individuals with autism spectrum disorders and macrocephaly. 23695273 2014
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
0.400 GeneticVariation 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 Non surgical treatment of Crouzon syndrome. 25209230 2014