Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.400 GeneticVariation CLINVAR Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR. 28575650

2017

Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.400 CausalMutation CLINVAR Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals. 27915094

2017

Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.400 GeneticVariation CLINVAR Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals. 27915094

2017

Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.400 GeneticVariation CLINVAR FGFR2 mutations and associated clinical observations in two Chinese patients with Crouzon syndrome. 28901406

2017

Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.400 CausalMutation CLINVAR Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR. 28575650

2017

Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.400 CausalMutation CLINVAR FGFR2 mutations and associated clinical observations in two Chinese patients with Crouzon syndrome. 28901406

2017

Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.400 GeneticVariation CLINVAR Large-scale discovery of novel genetic causes of developmental disorders. 25533962

2015

Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.400 GeneticVariation CLINVAR FGFR2 mutation in 46,XY sex reversal with craniosynostosis. 26362256

2015

Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.400 GeneticVariation 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
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.400 CausalMutation CLINVAR Large-scale discovery of novel genetic causes of developmental disorders. 25533962

2015

Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.400 CausalMutation 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
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.400 GeneticVariation CLINVAR Cowden syndrome: recognizing and managing a not-so-rare hereditary cancer syndrome. 25132236

2015

Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.400 CausalMutation CLINVAR FGFR2 mutation in 46,XY sex reversal with craniosynostosis. 26362256

2015

Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.400 GeneticVariation CLINVAR Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features. 24614104

2014

Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.400 CausalMutation CLINVAR Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features. 24614104

2014

Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.400 GeneticVariation CLINVAR Revisiting Crouzon syndrome: reviewing the background and management of a multifaceted disease. 25245177

2014

Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.400 CausalMutation CLINVAR A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency. 24668549

2014

Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.400 CausalMutation CLINVAR Revisiting Crouzon syndrome: reviewing the background and management of a multifaceted disease. 25245177

2014

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.400 GeneticVariation CLINVAR Hamartomatous polyposis syndromes: a review. 25022750

2014

Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.400 GeneticVariation 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
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.400 CausalMutation 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
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.400 GeneticVariation CLINVAR Non surgical treatment of Crouzon syndrome. 25209230

2014

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.400 GeneticVariation CLINVAR Biochemical screening and PTEN mutation analysis in individuals with autism spectrum disorders and macrocephaly. 23695273

2014

Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.400 GeneticVariation CLINVAR A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency. 24668549

2014

Entrez Id: 2263
Gene Symbol: FGFR2
FGFR2
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.400 CausalMutation CLINVAR Non surgical treatment of Crouzon syndrome. 25209230

2014