rs1553631770, CTNNB1

N. diseases: 4
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 GeneticVariation CLINVAR Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR. 28575650 2017
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 GeneticVariation CLINVAR Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals. 27915094 2017
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 GeneticVariation CLINVAR Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR. 28575650 2017
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 GeneticVariation CLINVAR Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR. 28575650 2017
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 GeneticVariation CLINVAR Defects in the Cell Signaling Mediator β-Catenin Cause the Retinal Vascular Condition FEVR. 28575650 2017
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 GeneticVariation CLINVAR Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals. 27915094 2017
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 GeneticVariation CLINVAR Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals. 27915094 2017
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 GeneticVariation CLINVAR Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals. 27915094 2017
Overgrowth
CUI: C1849265
Disease: 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
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 GeneticVariation CLINVAR Large-scale discovery of novel genetic causes of developmental disorders. 25533962 2015
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 GeneticVariation CLINVAR Large-scale discovery of novel genetic causes of developmental disorders. 25533962 2015
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
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
CUI: C1849265
Disease: Overgrowth
0.700 GeneticVariation CLINVAR Large-scale discovery of novel genetic causes of developmental disorders. 25533962 2015
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
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
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
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
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
0.700 GeneticVariation CLINVAR Large-scale discovery of novel genetic causes of developmental disorders. 25533962 2015
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 GeneticVariation CLINVAR A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency. 24668549 2014
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 GeneticVariation CLINVAR Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features. 24614104 2014
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 GeneticVariation CLINVAR Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features. 24614104 2014
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
0.700 GeneticVariation CLINVAR Chondrocyte β-catenin signaling regulates postnatal bone remodeling through modulation of osteoclast formation in a murine model. 24431282 2014
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 GeneticVariation CLINVAR Chondrocyte β-catenin signaling regulates postnatal bone remodeling through modulation of osteoclast formation in a murine model. 24431282 2014
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 GeneticVariation CLINVAR Chondrocyte β-catenin signaling regulates postnatal bone remodeling through modulation of osteoclast formation in a murine model. 24431282 2014
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 GeneticVariation CLINVAR Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features. 24614104 2014
Overgrowth
CUI: C1849265
Disease: Overgrowth
0.700 GeneticVariation CLINVAR A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency. 24668549 2014
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
0.700 GeneticVariation CLINVAR A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency. 24668549 2014