DisGeNET - a database of gene-disease associations

Summary of VDAs
Evidences for VDAs

rs587781292, BRIP1

N. diseases: 4

Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

FANCONI ANEMIA, COMPLEMENTATION GROUP J

CUI:	C1836860
Disease:	FANCONI ANEMIA, COMPLEMENTATION GROUP J

0.700

CausalMutation

CLINVAR

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

26315354

2015

FANCONI ANEMIA, COMPLEMENTATION GROUP J

CUI:	C1836860
Disease:	FANCONI ANEMIA, COMPLEMENTATION GROUP J

0.700

CausalMutation

CLINVAR

Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients.

24763289

2014