CTNNB1, catenin beta 1, 1499

N. diseases: 1368; N. variants: 68
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886041281
rs886041281
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C3554449
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 		TA 0.700 CausalMutation CLINVAR
dbSNP: rs886039332
rs886039332
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C3554449
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 		T 0.700 CausalMutation CLINVAR
dbSNP: rs863224864
rs863224864
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C3554449
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs797044875
rs797044875
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 GeneticVariation CLINVAR Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals. 27915094 2017
dbSNP: rs797044875
rs797044875
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Crystal structure of a full-length beta-catenin. 18334222 2008
dbSNP: rs797044875
rs797044875
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 GeneticVariation CLINVAR Diagnostic exome sequencing in persons with severe intellectual disability. 23033978 2012
dbSNP: rs797044875
rs797044875
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0026827
Disease:
Muscle hypotonia 		A 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: rs797044875
rs797044875
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 GeneticVariation CLINVAR Canonical Wnt/beta-catenin signaling prevents osteoblasts from differentiating into chondrocytes. 15866163 2005
dbSNP: rs797044875
rs797044875
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 GeneticVariation CLINVAR Mutations in WNT1 cause different forms of bone fragility. 23499309 2013
dbSNP: rs797044875
rs797044875
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Lack of beta-catenin affects mouse development at gastrulation. 8582267 1995
dbSNP: rs797044875
rs797044875
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Lack of beta-catenin affects mouse development at gastrulation. 8582267 1995
dbSNP: rs797044875
rs797044875
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR. 28575650 2017
dbSNP: rs797044875
rs797044875
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 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: rs797044875
rs797044875
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 GeneticVariation CLINVAR Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. 22495309 2012
dbSNP: rs797044875
rs797044875
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. 22495309 2012
dbSNP: rs797044875
rs797044875
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Mutations in WNT1 cause different forms of bone fragility. 23499309 2013
dbSNP: rs797044875
rs797044875
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0000772
Disease:
Multiple congenital anomalies 		A 0.700 GeneticVariation CLINVAR Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR. 28575650 2017
dbSNP: rs797044875
rs797044875
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Diagnostic exome sequencing in persons with severe intellectual disability. 23033978 2012
dbSNP: rs797044875
rs797044875
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. 22495309 2012
dbSNP: rs797044875
rs797044875
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Wnt/beta-catenin signaling in mesenchymal progenitors controls osteoblast and chondrocyte differentiation during vertebrate skeletogenesis. 15866164 2005
dbSNP: rs797044875
rs797044875
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0026827
Disease:
Muscle hypotonia 		A 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: rs797044875
rs797044875
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Canonical Wnt/beta-catenin signaling prevents osteoblasts from differentiating into chondrocytes. 15866163 2005
dbSNP: rs797044875
rs797044875
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals. 27915094 2017
dbSNP: rs797044875
rs797044875
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Chondrocyte β-catenin signaling regulates postnatal bone remodeling through modulation of osteoclast formation in a murine model. 24431282 2014
dbSNP: rs797044875
rs797044875
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0432072
Disease:
Dysmorphic features 		A 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