Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C3554449
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 19
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 		0.700 GeneticVariation UNIPROT Exome sequencing identifies a de novo mutation of CTNNB1 gene in a patient mainly presented with retinal detachment, lens and vitreous opacities, microcephaly, and developmental delay: Case report and literature review. 28514307

2017
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C3554449
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 19
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 		0.700 Biomarker GENOMICS_ENGLAND Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals. 27915094

2017
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C3554449
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 19
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 		0.700 Biomarker GENOMICS_ENGLAND A de novo CTNNB1 nonsense mutation associated with syndromic atypical hyperekplexia, microcephaly and intellectual disability: a case report. 26968164

2016
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C3554449
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 19
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 		0.700 GeneticVariation UNIPROT De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum. 25326669

2015
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C3554449
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 19
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 		0.700 GermlineCausalMutation ORPHANET Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features. 24614104

2014
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C3554449
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 19
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 		0.700 GeneticVariation UNIPROT Diagnostic exome sequencing in persons with severe intellectual disability. 23033978

2012
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C3554449
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 19
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 		0.700 Biomarker CTD_human