Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553631770
rs1553631770
T 0.700 GeneticVariation CLINVAR Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR. 28575650

2017

dbSNP: rs1553631770
rs1553631770
T 0.700 GeneticVariation CLINVAR Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals. 27915094

2017

dbSNP: rs1553631770
rs1553631770
T 0.700 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

dbSNP: rs1553631770
rs1553631770
T 0.700 GeneticVariation CLINVAR Large-scale discovery of novel genetic causes of developmental disorders. 25533962

2015

dbSNP: rs1553631770
rs1553631770
T 0.700 GeneticVariation CLINVAR Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features. 24614104

2014

dbSNP: rs1553631770
rs1553631770
T 0.700 GeneticVariation CLINVAR Chondrocyte β-catenin signaling regulates postnatal bone remodeling through modulation of osteoclast formation in a murine model. 24431282

2014

dbSNP: rs1553631770
rs1553631770
T 0.700 GeneticVariation CLINVAR A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency. 24668549

2014

dbSNP: rs1553631770
rs1553631770
T 0.700 GeneticVariation CLINVAR Mutations in WNT1 cause different forms of bone fragility. 23499309

2013

dbSNP: rs1553631770
rs1553631770
T 0.700 GeneticVariation CLINVAR Diagnostic exome sequencing in persons with severe intellectual disability. 23033978

2012

dbSNP: rs1553631770
rs1553631770
T 0.700 GeneticVariation CLINVAR Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. 22495309

2012

dbSNP: rs1553631770
rs1553631770
T 0.700 GeneticVariation CLINVAR Wnt/β-catenin signaling and disease. 22682243

2012

dbSNP: rs1553631770
rs1553631770
T 0.700 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

dbSNP: rs1553631770
rs1553631770
T 0.700 GeneticVariation CLINVAR Maintaining embryonic stem cell pluripotency with Wnt signaling. 21903672

2011

dbSNP: rs1553631770
rs1553631770
T 0.700 GeneticVariation CLINVAR Crystal structure of a full-length beta-catenin. 18334222

2008

dbSNP: rs1553631770
rs1553631770
T 0.700 GeneticVariation CLINVAR Canonical Wnt/beta-catenin signaling prevents osteoblasts from differentiating into chondrocytes. 15866163

2005

dbSNP: rs1553631770
rs1553631770
T 0.700 GeneticVariation CLINVAR Wnt/beta-catenin pathway. 15713948

2005

dbSNP: rs1553631770
rs1553631770
T 0.700 GeneticVariation CLINVAR Wnt/beta-catenin signaling in mesenchymal progenitors controls osteoblast and chondrocyte differentiation during vertebrate skeletogenesis. 15866164

2005

dbSNP: rs1553631770
rs1553631770
T 0.700 GeneticVariation CLINVAR LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. 11719191

2001

dbSNP: rs1553631770
rs1553631770
T 0.700 GeneticVariation 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

dbSNP: rs1553631770
rs1553631770
T 0.700 GeneticVariation CLINVAR Lack of beta-catenin affects mouse development at gastrulation. 8582267

1995

dbSNP: rs1553631770
rs1553631770
T 0.700 GeneticVariation CLINVAR The product of the Drosophila segment polarity gene armadillo is part of a multi-protein complex resembling the vertebrate adherens junction. 8227220

1993

dbSNP: rs1553631770
rs1553631770
T 0.700 GeneticVariation CLINVAR Purification of a 92-kDa cytoplasmic protein tightly associated with the cell-cell adhesion molecule E-cadherin (uvomorulin). Characterization and extractability of the protein complex from the cell cytostructure. 1999432

1991