CTNNB1, catenin beta 1, 1499

N. diseases: 1368; N. variants: 68
Disease: Dysmorphic features ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs775104326
rs775104326
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals. 27915094 2017
dbSNP: rs775104326
rs775104326
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR. 28575650 2017
dbSNP: rs775104326
rs775104326
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0432072
Disease:
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
dbSNP: rs775104326
rs775104326
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Large-scale discovery of novel genetic causes of developmental disorders. 25533962 2015
dbSNP: rs775104326
rs775104326
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency. 24668549 2014
dbSNP: rs775104326
rs775104326
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features. 24614104 2014
dbSNP: rs775104326
rs775104326
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0432072
Disease:
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
dbSNP: rs775104326
rs775104326
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Mutations in WNT1 cause different forms of bone fragility. 23499309 2013
dbSNP: rs775104326
rs775104326
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0432072
Disease:
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
dbSNP: rs775104326
rs775104326
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. 22495309 2012
dbSNP: rs775104326
rs775104326
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Wnt/β-catenin signaling and disease. 22682243 2012
dbSNP: rs775104326
rs775104326
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Diagnostic exome sequencing in persons with severe intellectual disability. 23033978 2012
dbSNP: rs775104326
rs775104326
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Maintaining embryonic stem cell pluripotency with Wnt signaling. 21903672 2011
dbSNP: rs775104326
rs775104326
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Crystal structure of a full-length beta-catenin. 18334222 2008
dbSNP: rs775104326
rs775104326
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Wnt/beta-catenin signaling in mesenchymal progenitors controls osteoblast and chondrocyte differentiation during vertebrate skeletogenesis. 15866164 2005
dbSNP: rs775104326
rs775104326
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Canonical Wnt/beta-catenin signaling prevents osteoblasts from differentiating into chondrocytes. 15866163 2005
dbSNP: rs775104326
rs775104326
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Wnt/beta-catenin pathway. 15713948 2005
dbSNP: rs775104326
rs775104326
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. 11719191 2001
dbSNP: rs775104326
rs775104326
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0432072
Disease:
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
dbSNP: rs775104326
rs775104326
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0432072
Disease:
Dysmorphic features 		T 0.700 CausalMutation CLINVAR Lack of beta-catenin affects mouse development at gastrulation. 8582267 1995
dbSNP: rs775104326
rs775104326
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0432072
Disease:
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
dbSNP: rs775104326
rs775104326
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0432072
Disease:
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