DisGeNET - a database of gene-disease associations

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

N. diseases: 194; N. variants: 242

Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J ×

Variant: rs587781655 ×

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:

rs587781655

Entrez Id:	83990
Gene Symbol:	BRIP1

BRIP1

CUI:	C1836860
Disease:

FANCONI ANEMIA, COMPLEMENTATION GROUP J

0.700

GeneticVariation

CLINVAR

Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer.

26315354

2015

dbSNP:

rs587781655

Entrez Id:	83990
Gene Symbol:	BRIP1

BRIP1

CUI:	C1836860
Disease:

FANCONI ANEMIA, COMPLEMENTATION GROUP J

0.700

GeneticVariation

CLINVAR

Mutations in BRIP1 confer high risk of ovarian cancer.

21964575

2011

dbSNP:

rs587781655

Entrez Id:	83990
Gene Symbol:	BRIP1

BRIP1

CUI:	C1836860
Disease:

FANCONI ANEMIA, COMPLEMENTATION GROUP J

0.700

GeneticVariation

CLINVAR

Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles.

17033622

2006

dbSNP:

rs587781655

Entrez Id:	83990
Gene Symbol:	BRIP1

BRIP1

CUI:	C1836860
Disease:

FANCONI ANEMIA, COMPLEMENTATION GROUP J

0.700

GeneticVariation

CLINVAR

The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J.

16116423

2005