CTNNB1, catenin beta 1, 1499

N. diseases: 1368; N. variants: 68
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913396
rs121913396
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0206711
Disease:
Pilomatrixoma
0.800 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360 2017
dbSNP: rs121913396
rs121913396
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C2239176
Disease:
Liver carcinoma
0.800 GeneticVariation UNIPROT
dbSNP: rs121913396
rs121913396
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0206711
Disease:
Pilomatrixoma
0.800 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
dbSNP: rs121913396
rs121913396
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0206711
Disease:
Pilomatrixoma
0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965 2015
dbSNP: rs121913399
rs121913399
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C2239176
Disease:
Liver carcinoma
0.800 GeneticVariation UNIPROT
dbSNP: rs121913400
rs121913400
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0009402
Disease:
Colorectal Carcinoma
0.800 GeneticVariation UNIPROT Tumor markers in colorectal cancer, gastric cancer and gastrointestinal stromal cancers: European group on tumor markers 2014 guidelines update. 23852704 2014
dbSNP: rs121913400
rs121913400
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0009402
Disease:
Colorectal Carcinoma
0.800 GeneticVariation UNIPROT Updated guidelines for biomarker testing in colorectal carcinoma: a national consensus of the Spanish Society of Pathology and the Spanish Society of Medical Oncology. 25373533 2015
dbSNP: rs121913400
rs121913400
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0009402
Disease:
Colorectal Carcinoma
0.800 GeneticVariation UNIPROT ESMO Consensus Guidelines for management of patients with colon and rectal cancer. a personalized approach to clinical decision making. 23012255 2012
dbSNP: rs121913400
rs121913400
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0206711
Disease:
Pilomatrixoma
0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965 2015
dbSNP: rs121913400
rs121913400
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0009402
Disease:
Colorectal Carcinoma
0.800 GeneticVariation UNIPROT ASCO 2006 update of recommendations for the use of tumor markers in gastrointestinal cancer. 17060676 2006
dbSNP: rs121913400
rs121913400
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0206711
Disease:
Pilomatrixoma
0.800 GeneticVariation UNIPROT A common human skin tumour is caused by activating mutations in beta-catenin. 10192393 1999
dbSNP: rs121913400
rs121913400
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0009402
Disease:
Colorectal Carcinoma
0.800 GeneticVariation UNIPROT NCCN Task Force report: Evaluating the clinical utility of tumor markers in oncology. 22138009 2011
dbSNP: rs121913400
rs121913400
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0009402
Disease:
Colorectal Carcinoma
0.800 GeneticVariation UNIPROT Recommendations from the EGAPP Working Group: can testing of tumor tissue for mutations in EGFR pathway downstream effector genes in patients with metastatic colorectal cancer improve health outcomes by guiding decisions regarding anti-EGFR therapy? 23429431 2013
dbSNP: rs121913400
rs121913400
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0206711
Disease:
Pilomatrixoma
0.800 GeneticVariation UNIPROT Identification of two novel regulated serines in the N terminus of beta-catenin. 12027456 2002
dbSNP: rs121913400
rs121913400
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0009402
Disease:
Colorectal Carcinoma
0.800 GeneticVariation UNIPROT Multitarget stool DNA testing for colorectal-cancer screening. 25006736 2014
dbSNP: rs121913400
rs121913400
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0009402
Disease:
Colorectal Carcinoma
0.800 GeneticVariation UNIPROT Guidelines for biomarker testing in colorectal carcinoma (CRC): a national consensus of the Spanish Society of Pathology (SEAP) and the Spanish Society of Medical Oncology (SEOM). 22855150 2012
dbSNP: rs121913400
rs121913400
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0206711
Disease:
Pilomatrixoma
0.800 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
dbSNP: rs121913400
rs121913400
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0206711
Disease:
Pilomatrixoma
0.800 GeneticVariation UNIPROT beta-catenin expression in pilomatrixomas. Relationship with beta-catenin gene mutations and comparison with beta-catenin expression in normal hair follicles. 11703283 2001
dbSNP: rs121913400
rs121913400
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0009402
Disease:
Colorectal Carcinoma
0.800 GeneticVariation UNIPROT RAS testing of colorectal carcinoma—a guidance document from the Association of Clinical Pathologists Molecular Pathology and Diagnostics Group. 24996433 2014
dbSNP: rs121913400
rs121913400
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C2239176
Disease:
Liver carcinoma
0.800 GeneticVariation UNIPROT
dbSNP: rs121913400
rs121913400
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0009402
Disease:
Colorectal Carcinoma
0.800 GeneticVariation UNIPROT National Academy of Clinical Biochemistry laboratory medicine practice guidelines for use of tumor markers in testicular, prostate, colorectal, breast, and ovarian cancers. 19042984 2008
dbSNP: rs121913400
rs121913400
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0206711
Disease:
Pilomatrixoma
0.800 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360 2017
dbSNP: rs121913403
rs121913403
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C2239176
Disease:
Liver carcinoma
0.800 GeneticVariation UNIPROT
dbSNP: rs121913412
rs121913412
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C2239176
Disease:
Liver carcinoma
0.800 GeneticVariation UNIPROT
dbSNP: rs121913413
rs121913413
Entrez Id: 1499
Gene Symbol: CTNNB1
CTNNB1
CUI: C0206711
Disease:
Pilomatrixoma
0.800 GeneticVariation UNIPROT beta-catenin expression in pilomatrixomas. Relationship with beta-catenin gene mutations and comparison with beta-catenin expression in normal hair follicles. 11703283 2001