CTNNB1, catenin beta 1, 1499

N. diseases: 1368; N. variants: 68
Disease: CATARACT 32, MULTIPLE TYPES ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553630279
rs1553630279
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C3887926
Disease:
CATARACT 32, MULTIPLE TYPES 		T 0.700 CausalMutation CLINVAR Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals. 27915094 2017
dbSNP: rs1553630279
rs1553630279
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C3887926
Disease:
CATARACT 32, MULTIPLE TYPES 		T 0.700 CausalMutation CLINVAR A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency. 24668549 2014
dbSNP: rs1553630279
rs1553630279
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C3887926
Disease:
CATARACT 32, MULTIPLE TYPES 		T 0.700 CausalMutation CLINVAR [Intraoperative echocardiographic assessment of left ventricular muscle volume changes after intracardiac operation under cardiopulmonary bypass]. 2614104 1989