Entrez Id: |
1499 |
Gene Symbol: |
CTNNB1 |
CTNNB1
|
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
|
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
|
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
|
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
|
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
|
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
|
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
|
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
|
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
|
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
|
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
|
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
|
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
|
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
|
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
|
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
|
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
|
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
|
Multiple congenital anomalies
|
0.400 |
GeneticVariation |
CLINVAR |
Hamartomatous polyposis syndromes: a review.
|
25022750 |
2014 |
Entrez Id: |
1499 |
Gene Symbol: |
CTNNB1 |
CTNNB1
|
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
|
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
|
Multiple congenital anomalies
|
0.400 |
GeneticVariation |
CLINVAR |
Non surgical treatment of Crouzon syndrome.
|
25209230 |
2014 |
Entrez Id: |
5728 |
Gene Symbol: |
PTEN |
PTEN
|
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
|
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
|
Multiple congenital anomalies
|
0.400 |
CausalMutation |
CLINVAR |
Non surgical treatment of Crouzon syndrome.
|
25209230 |
2014 |