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CTNNB1 - catenin beta 1
- Synonym(s) : armadillo, beta-catenin
- Previous symbols and names : CTNNB, catenin (cadherin-associated protein), beta 1, catenin (cadherin-associated protein), beta 1 (88kD), catenin (cadherin-associated protein), beta 1, 88kDa
- Type : gene with protein product
- Chromosomal location : 3p22.1
- OMIM: 116806
- HGNC: 2514
- UniProtKB: P35222
- Genatlas: CTNNB1
- GenCC: CTNNB1
- Ensembl: ENSG00000168036
- IUPHAR-DB: -
- Reactome: P35222
- LOVD: CTNNB1
Diseases list
- Disease-causing germline mutation(s) in Severe intellectual disability-progressive spastic diplegia syndrome
ORPHA:404473 
- Disease-causing germline mutation(s) (loss of function) in Familial exudative vitreoretinopathy
ORPHA:891 - Disease-causing somatic mutation(s) in Adrenocortical carcinoma
ORPHA:1501 - Disease-causing somatic mutation(s) in Craniopharyngioma
ORPHA:54595 - Disease-causing somatic mutation(s) in Desmoid tumor
ORPHA:873 - Disease-causing somatic mutation(s) in NON RARE IN EUROPE: Aldosterone-producing adenoma
ORPHA:85142 - Disease-causing somatic mutation(s) in Pilomatrixoma
ORPHA:91414 - Candidate gene tested in Adult hepatocellular carcinoma
ORPHA:210159 - Candidate gene tested in Microcystic stromal tumor
ORPHA:569248 - Candidate gene tested in Pediatric hepatocellular carcinoma
ORPHA:33402
: AssessedAdditional information
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