DisGeNET - a database of gene-disease associations

BRIP1, BRCA1 interacting protein C-terminal helicase 1, 83990

N. diseases: 194; N. variants: 242

Disease: Malignant neoplasm of breast ×

Variant: rs1295703239 ×

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:

rs1295703239

Entrez Id:	83990
Gene Symbol:	BRIP1

BRIP1

CUI:	C0006142
Disease:

Malignant neoplasm of breast

0.700

CausalMutation

CLINVAR

Molecular basis of BACH1/FANCJ recognition by TopBP1 in DNA replication checkpoint control.

21127055

2011

dbSNP:

rs1295703239

Entrez Id:	83990
Gene Symbol:	BRIP1

BRIP1

CUI:	C0006142
Disease:

Malignant neoplasm of breast

0.700

CausalMutation

CLINVAR

Hereditary breast cancer and the BRCA1-associated FANCJ/BACH1/BRIP1.

21345144

2011

dbSNP:

rs1295703239

Entrez Id:	83990
Gene Symbol:	BRIP1

BRIP1

CUI:	C0006142
Disease:

Malignant neoplasm of breast

0.700

CausalMutation

CLINVAR

BACH1/FANCJ acts with TopBP1 and participates early in DNA replication checkpoint control.

20159562

2010

dbSNP:

rs1295703239

Entrez Id:	83990
Gene Symbol:	BRIP1

BRIP1

CUI:	C0006142
Disease:

Malignant neoplasm of breast

0.700

CausalMutation

CLINVAR

A novel breast cancer-associated BRIP1 (FANCJ/BACH1) germ-line mutation impairs protein stability and function.

18628483

2008

dbSNP:

rs1295703239

Entrez Id:	83990
Gene Symbol:	BRIP1

BRIP1

CUI:	C0006142
Disease:

Malignant neoplasm of breast

TGATA

0.700

CausalMutation

CLINVAR