rs775104326
|
|
Dysmorphic features
|
T |
0.700 |
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 |
rs775104326
|
|
Dysmorphic features
|
T |
0.700 |
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 |
rs775104326
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development.
|
11719191 |
2001 |
rs775104326
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
The product of the Drosophila segment polarity gene armadillo is part of a multi-protein complex resembling the vertebrate adherens junction.
|
8227220 |
1993 |
rs775104326
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
|
22495309 |
2012 |
rs775104326
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Wnt/beta-catenin signaling in mesenchymal progenitors controls osteoblast and chondrocyte differentiation during vertebrate skeletogenesis.
|
15866164 |
2005 |
rs775104326
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Lack of beta-catenin affects mouse development at gastrulation.
|
8582267 |
1995 |
rs775104326
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
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 |
rs775104326
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Crystal structure of a full-length beta-catenin.
|
18334222 |
2008 |
rs775104326
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Maintaining embryonic stem cell pluripotency with Wnt signaling.
|
21903672 |
2011 |
rs775104326
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency.
|
24668549 |
2014 |
rs775104326
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Canonical Wnt/beta-catenin signaling prevents osteoblasts from differentiating into chondrocytes.
|
15866163 |
2005 |
rs775104326
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals.
|
27915094 |
2017 |
rs775104326
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Large-scale discovery of novel genetic causes of developmental disorders.
|
25533962 |
2015 |
rs775104326
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features.
|
24614104 |
2014 |
rs775104326
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
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 |
rs775104326
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Chondrocyte β-catenin signaling regulates postnatal bone remodeling through modulation of osteoclast formation in a murine model.
|
24431282 |
2014 |
rs775104326
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Wnt/beta-catenin pathway.
|
15713948 |
2005 |
rs775104326
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Mutations in WNT1 cause different forms of bone fragility.
|
23499309 |
2013 |
rs775104326
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Wnt/β-catenin signaling and disease.
|
22682243 |
2012 |
rs775104326
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR.
|
28575650 |
2017 |
rs775104326
|
|
Dysmorphic features
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Diagnostic exome sequencing in persons with severe intellectual disability.
|
23033978 |
2012 |