CTNNB1, catenin beta 1, 1499

N. diseases: 70; N. variants: 52
Disease: Little's Disease ×
Source: CLINVAR ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023882
Disease: Little's Disease
Little's Disease 		0.100 CausalMutation disease CLINVAR Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals. 27915094 2017
CUI: C0023882
Disease: Little's Disease
Little's Disease 		0.100 CausalMutation disease CLINVAR A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency. 24668549 2014
CUI: C0023882
Disease: Little's Disease
Little's Disease 		0.100 CausalMutation disease CLINVAR [Intraoperative echocardiographic assessment of left ventricular muscle volume changes after intracardiac operation under cardiopulmonary bypass]. 2614104 1989