DisGeNET - a database of gene-disease associations

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

N. diseases: 194; N. variants: 242

Disease: Neoplastic Syndromes, Hereditary ×

Variant: rs1057519365 ×

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:

rs1057519365

Entrez Id:	83990
Gene Symbol:	BRIP1

BRIP1

CUI:	C0027672
Disease:

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

The Fanconi anemia DNA damage repair pathway in the spotlight for germline predisposition to colorectal cancer.

27165003

2016

dbSNP:

rs1057519365

Entrez Id:	83990
Gene Symbol:	BRIP1

BRIP1

CUI:	C0027672
Disease:

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer.

25058500

2015

dbSNP:

rs1057519365

Entrez Id:	83990
Gene Symbol:	BRIP1

BRIP1

CUI:	C0027672
Disease:

Neoplastic Syndromes, Hereditary

0.700

CausalMutation

CLINVAR

Mutations in BRIP1 confer high risk of ovarian cancer.

21964575

2011