DisGeNET - a database of gene-disease associations

CTNNB1, catenin beta 1, 1499

N. diseases: 1368; N. variants: 68

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121913409

Entrez Id:	1499
Gene Symbol:	CTNNB1

CTNNB1

CUI:	C2239176
Disease:

Liver carcinoma

0.820

GeneticVariation

UNIPROT

dbSNP:

rs28931588

Entrez Id:	1499
Gene Symbol:	CTNNB1

CTNNB1

CUI:	C0206711
Disease:

Pilomatrixoma

0.820

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:

rs28931588

Entrez Id:	1499
Gene Symbol:	CTNNB1

CTNNB1

CUI:	C0206711
Disease:

Pilomatrixoma

0.820

GeneticVariation

UNIPROT

Identification of two novel regulated serines in the N terminus of beta-catenin.

12027456

2002

dbSNP:

rs28931588

Entrez Id:	1499
Gene Symbol:	CTNNB1

CTNNB1

CUI:	C0206711
Disease:

Pilomatrixoma

0.820

GeneticVariation

UNIPROT

A common human skin tumour is caused by activating mutations in beta-catenin.

10192393

1999

dbSNP:

rs121913400

Entrez Id:	1499
Gene Symbol:	CTNNB1

CTNNB1

CUI:	C0025149
Disease:

Medulloblastoma

0.810

GeneticVariation

UNIPROT

Identification of two novel regulated serines in the N terminus of beta-catenin.

12027456

2002

dbSNP:

rs121913400

Entrez Id:	1499
Gene Symbol:	CTNNB1

CTNNB1

CUI:	C0025149
Disease:

Medulloblastoma

0.810

GeneticVariation

UNIPROT

APC mutations in sporadic medulloblastomas.

10666372

2000

dbSNP:

rs121913403

Entrez Id:	1499
Gene Symbol:	CTNNB1

CTNNB1

CUI:	C0206711
Disease:

Pilomatrixoma

0.810

GeneticVariation

UNIPROT

ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

25356965

2015

dbSNP:

rs121913403

Entrez Id:	1499
Gene Symbol:	CTNNB1

CTNNB1

CUI:	C0206711
Disease:

Pilomatrixoma

0.810

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

Entrez Id:	1499
Gene Symbol:	CTNNB1

CTNNB1

CUI:	C0206711
Disease:

Pilomatrixoma

0.810

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:

rs121913403

Entrez Id:	1499
Gene Symbol:	CTNNB1

CTNNB1

CUI:	C0206711
Disease:

Pilomatrixoma

0.810

GeneticVariation

UNIPROT

A common human skin tumour is caused by activating mutations in beta-catenin.

10192393

1999

dbSNP:

rs121913403

Entrez Id:	1499
Gene Symbol:	CTNNB1

CTNNB1

CUI:	C0206711
Disease:

Pilomatrixoma

0.810

GeneticVariation

UNIPROT

Identification of two novel regulated serines in the N terminus of beta-catenin.

12027456

2002

dbSNP:

rs121913403

Entrez Id:	1499
Gene Symbol:	CTNNB1

CTNNB1

CUI:	C0206711
Disease:

Pilomatrixoma

0.810

GeneticVariation

UNIPROT

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

23788249

2013

dbSNP:

rs121913407

Entrez Id:	1499
Gene Symbol:	CTNNB1

CTNNB1

CUI:	C2239176
Disease:

Liver carcinoma

0.810

GeneticVariation

UNIPROT

dbSNP:

rs121913413

Entrez Id:	1499
Gene Symbol:	CTNNB1

CTNNB1

CUI:	C2239176
Disease:

Liver carcinoma

0.810

GeneticVariation

UNIPROT

dbSNP:

rs121913228

Entrez Id:	1499
Gene Symbol:	CTNNB1

CTNNB1

CUI:	C2239176
Disease:

Liver carcinoma

0.800

GeneticVariation

UNIPROT

dbSNP:

rs121913228

Entrez Id:	1499
Gene Symbol:	CTNNB1

CTNNB1

CUI:	C0025149
Disease:

Medulloblastoma

0.800

GeneticVariation

UNIPROT

APC mutations in sporadic medulloblastomas.

10666372

2000

dbSNP:

rs121913228

Entrez Id:	1499
Gene Symbol:	CTNNB1

CTNNB1

CUI:	C0025149
Disease:

Medulloblastoma

0.800

GeneticVariation

UNIPROT

Identification of two novel regulated serines in the N terminus of beta-catenin.

12027456

2002

dbSNP:

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

Entrez Id:	1499
Gene Symbol:	CTNNB1

CTNNB1

CUI:	C2239176
Disease:

Liver carcinoma

0.800

GeneticVariation

UNIPROT

dbSNP:

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

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

Entrez Id:	1499
Gene Symbol:	CTNNB1

CTNNB1

CUI:	C2239176
Disease:

Liver carcinoma

0.800

GeneticVariation

UNIPROT

dbSNP:

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

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

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