Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
Overgrowth
|
0.700 | GeneticVariation | CLINVAR | Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR. | 28575650 | 2017 | |||||
Overgrowth
|
0.700 | GeneticVariation | CLINVAR | Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals. | 27915094 | 2017 | |||||
Overgrowth
|
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 | |||||
Overgrowth
|
0.700 | GeneticVariation | CLINVAR | Large-scale discovery of novel genetic causes of developmental disorders. | 25533962 | 2015 | |||||
Overgrowth
|
0.700 | GeneticVariation | CLINVAR | Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features. | 24614104 | 2014 | |||||
Overgrowth
|
0.700 | GeneticVariation | CLINVAR | Chondrocyte β-catenin signaling regulates postnatal bone remodeling through modulation of osteoclast formation in a murine model. | 24431282 | 2014 | |||||
Overgrowth
|
0.700 | GeneticVariation | CLINVAR | A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency. | 24668549 | 2014 | |||||
Overgrowth
|
0.700 | GeneticVariation | CLINVAR | Mutations in WNT1 cause different forms of bone fragility. | 23499309 | 2013 | |||||
Overgrowth
|
0.700 | GeneticVariation | CLINVAR | Diagnostic exome sequencing in persons with severe intellectual disability. | 23033978 | 2012 | |||||
Overgrowth
|
0.700 | GeneticVariation | CLINVAR | Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. | 22495309 | 2012 | |||||
Overgrowth
|
0.700 | GeneticVariation | CLINVAR | Wnt/β-catenin signaling and disease. | 22682243 | 2012 | |||||
Overgrowth
|
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 | |||||
Overgrowth
|
0.700 | GeneticVariation | CLINVAR | Maintaining embryonic stem cell pluripotency with Wnt signaling. | 21903672 | 2011 | |||||
Overgrowth
|
0.700 | GeneticVariation | CLINVAR | Crystal structure of a full-length beta-catenin. | 18334222 | 2008 | |||||
Overgrowth
|
0.700 | GeneticVariation | CLINVAR | Canonical Wnt/beta-catenin signaling prevents osteoblasts from differentiating into chondrocytes. | 15866163 | 2005 | |||||
Overgrowth
|
0.700 | GeneticVariation | CLINVAR | Wnt/beta-catenin pathway. | 15713948 | 2005 | |||||
Overgrowth
|
0.700 | GeneticVariation | CLINVAR | Wnt/beta-catenin signaling in mesenchymal progenitors controls osteoblast and chondrocyte differentiation during vertebrate skeletogenesis. | 15866164 | 2005 | |||||
Overgrowth
|
0.700 | GeneticVariation | CLINVAR | LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. | 11719191 | 2001 | |||||
Overgrowth
|
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 | |||||
Overgrowth
|
0.700 | GeneticVariation | CLINVAR | Lack of beta-catenin affects mouse development at gastrulation. | 8582267 | 1995 | |||||
Overgrowth
|
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 | |||||
Overgrowth
|
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 |