Gene: CTNNB1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		0.110 GeneticVariation disease BEFREE Here, we reported a 27-year-old Chinese pregnant woman with a severe intellectual disability and serious visual defects who was detected with a novel splice mutation (c.734+1G>A) in CTNNB1 gene by whole-exome sequencing and confirmed by Sanger sequencing. 30929091 2019
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		0.110 CausalMutation disease CLINVAR Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals. 27915094 2017
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		0.110 CausalMutation disease CLINVAR A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency. 24668549 2014
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1 		0.110 CausalMutation disease CLINVAR [Intraoperative echocardiographic assessment of left ventricular muscle volume changes after intracardiac operation under cardiopulmonary bypass]. 2614104 1989