DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Mammary Neoplasms ×

Gene: BRCA1 ×

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:

rs80357787

BRCA1

CUI:	C1458155
Disease:	Mammary Neoplasms

Mammary Neoplasms

0.700

CausalMutation

CLINVAR

Nonsense-mediated mRNA decay: terminating erroneous gene expression.

15145354

2004

dbSNP:

rs80357772

BRCA1

CUI:	C1458155
Disease:	Mammary Neoplasms

Mammary Neoplasms

0.700

CausalMutation

CLINVAR

Nonsense-mediated mRNA decay: terminating erroneous gene expression.

15145354

2004

dbSNP:

rs80357772

BRCA1

CUI:	C1458155
Disease:	Mammary Neoplasms

Mammary Neoplasms

0.700

CausalMutation

CLINVAR

Prevalence and Prognostic Role of BRCA1/2 Variants in Unselected Chinese Breast Cancer Patients.

27257965

2016

dbSNP:

rs80357760

BRCA1

CUI:	C1458155
Disease:	Mammary Neoplasms

Mammary Neoplasms

0.700

CausalMutation

CLINVAR

dbSNP:

rs80357724

BRCA1

CUI:	C1458155
Disease:	Mammary Neoplasms

Mammary Neoplasms

0.700

CausalMutation

CLINVAR

dbSNP:

rs80357718

BRCA1

CUI:	C1458155
Disease:	Mammary Neoplasms

Mammary Neoplasms

0.700

CausalMutation

CLINVAR

dbSNP:

rs80357714

BRCA1

CUI:	C1458155
Disease:	Mammary Neoplasms

Mammary Neoplasms

0.700

CausalMutation

CLINVAR

dbSNP:

rs80357706

BRCA1

CUI:	C1458155
Disease:	Mammary Neoplasms

Mammary Neoplasms

0.700

CausalMutation

CLINVAR

dbSNP:

rs80357701

BRCA1

CUI:	C1458155
Disease:	Mammary Neoplasms

Mammary Neoplasms

0.700

CausalMutation

CLINVAR

dbSNP:

rs80357580

BRCA1

CUI:	C1458155
Disease:	Mammary Neoplasms

Mammary Neoplasms

0.700

CausalMutation

CLINVAR

Prevalence and Prognostic Role of BRCA1/2 Variants in Unselected Chinese Breast Cancer Patients.

27257965

2016

dbSNP:

rs80357522

BRCA1

CUI:	C1458155
Disease:	Mammary Neoplasms

Mammary Neoplasms

0.700

CausalMutation

CLINVAR

dbSNP:

rs80357498

BRCA1

CUI:	C1458155
Disease:	Mammary Neoplasms

Mammary Neoplasms

0.700

CausalMutation

CLINVAR

Functional differences among BRCA1 missense mutations in the control of centrosome duplication.

21725363

2012

dbSNP:

rs80357481

BRCA1

CUI:	C1458155
Disease:	Mammary Neoplasms

Mammary Neoplasms

0.700

CausalMutation

CLINVAR

Nonsense-mediated mRNA decay: terminating erroneous gene expression.

15145354

2004

dbSNP:

rs80357382

BRCA1

CUI:	C1458155
Disease:	Mammary Neoplasms

Mammary Neoplasms

0.700

CausalMutation

CLINVAR

dbSNP:

rs80357310

BRCA1

CUI:	C1458155
Disease:	Mammary Neoplasms

Mammary Neoplasms

0.700

CausalMutation

CLINVAR

dbSNP:

rs80357303

BRCA1

CUI:	C1458155
Disease:	Mammary Neoplasms

Mammary Neoplasms

0.700

CausalMutation

CLINVAR

Prevalence and Prognostic Role of BRCA1/2 Variants in Unselected Chinese Breast Cancer Patients.

27257965

2016

dbSNP:

rs80357243

BRCA1

CUI:	C1458155
Disease:	Mammary Neoplasms

Mammary Neoplasms

0.700

GeneticVariation

CLINVAR

Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays.

20516115

2010

dbSNP:

rs80357243

BRCA1

CUI:	C1458155
Disease:	Mammary Neoplasms

Mammary Neoplasms

0.700

GeneticVariation

CLINVAR

Does familial breast cancer and thymoma suggest a cancer syndrome? A family perspective.

26344711

2015

dbSNP:

rs80357167

BRCA1

CUI:	C1458155
Disease:	Mammary Neoplasms

Mammary Neoplasms

0.700

CausalMutation

CLINVAR

Nonsense-mediated mRNA decay: terminating erroneous gene expression.

15145354

2004

dbSNP:

rs80357123

BRCA1

CUI:	C1458155
Disease:	Mammary Neoplasms

Mammary Neoplasms

0.700

CausalMutation

CLINVAR

dbSNP:

rs80357086

BRCA1

CUI:	C1458155
Disease:	Mammary Neoplasms

Mammary Neoplasms

0.700

CausalMutation

CLINVAR

dbSNP:

rs80357006

BRCA1

CUI:	C1458155
Disease:	Mammary Neoplasms

Mammary Neoplasms

0.700

CausalMutation

CLINVAR

dbSNP:

rs80356978

BRCA1

CUI:	C1458155
Disease:	Mammary Neoplasms

Mammary Neoplasms

0.700

CausalMutation

CLINVAR

dbSNP:

rs80356962

BRCA1

CUI:	C1458155
Disease:	Mammary Neoplasms

Mammary Neoplasms

0.700

CausalMutation

CLINVAR

dbSNP:

rs80356923

BRCA1

CUI:	C1458155
Disease:	Mammary Neoplasms

Mammary Neoplasms

0.700

CausalMutation

CLINVAR