DisGeNET - a database of gene-disease associations

CTNNB1, catenin beta 1, 1499

N. diseases: 1368; N. variants: 68

Disease: Pilomatrixoma ×

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:

rs121913399

Entrez Id:	1499
Gene Symbol:	CTNNB1

CTNNB1

CUI:	C0206711
Disease:

Pilomatrixoma

0.700

GeneticVariation

CLINVAR

Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

25157968

2014

dbSNP:

rs121913399

Entrez Id:	1499
Gene Symbol:	CTNNB1

CTNNB1

CUI:	C0206711
Disease:

Pilomatrixoma

0.700

GeneticVariation

CLINVAR

Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

25157968

2014

dbSNP:

rs775104326

Entrez Id:	1499
Gene Symbol:	CTNNB1

CTNNB1

CUI:	C0206711
Disease:

Pilomatrixoma

0.700

CausalMutation

CLINVAR

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:

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:

rs121913413

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:

rs28931589

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:	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

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:

rs121913413

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:

rs28931589

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:

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:

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:

rs121913413

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:

rs28931589

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

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:

rs121913413

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:

rs28931589

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

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:

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

dbSNP:

rs28931589

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

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:

rs121913413

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:

rs28931589

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:

rs121913396

Entrez Id:	1499
Gene Symbol:	CTNNB1

CTNNB1

CUI:	C0206711
Disease:

Pilomatrixoma

0.800

CausalMutation

CLINVAR