Source: CLINVAR

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: 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: 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: 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: 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: 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: 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: 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: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.400 GeneticVariation CLINVAR Mutations in WNT1 cause different forms of bone fragility. 23499309

2013
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.400 CausalMutation CLINVAR Mutations in WNT1 cause different forms of bone fragility. 23499309

2013
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.400 CausalMutation CLINVAR Wnt/β-catenin signaling and disease. 22682243

2012
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.400 GeneticVariation CLINVAR Diagnostic exome sequencing in persons with severe intellectual disability. 23033978

2012
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.400 CausalMutation CLINVAR Diagnostic exome sequencing in persons with severe intellectual disability. 23033978

2012
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.400 GeneticVariation CLINVAR Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. 22495309

2012
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.400 GeneticVariation 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
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.400 CausalMutation 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
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.400 CausalMutation CLINVAR Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. 22495309

2012
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.400 GeneticVariation CLINVAR Wnt/β-catenin signaling and disease. 22682243

2012
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.400 GeneticVariation CLINVAR Maintaining embryonic stem cell pluripotency with Wnt signaling. 21903672

2011