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: rs779741278 ×

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:

rs779741278

Entrez Id:	83990
Gene Symbol:	BRIP1

BRIP1

CUI:	C1836860
Disease:

FANCONI ANEMIA, COMPLEMENTATION GROUP J

0.700

GeneticVariation

CLINVAR

Monogenic and polygenic determinants of sarcoma risk: an international genetic study.

27498913

2016

dbSNP:

rs779741278

Entrez Id:	83990
Gene Symbol:	BRIP1

BRIP1

CUI:	C1836860
Disease:

FANCONI ANEMIA, COMPLEMENTATION GROUP J

0.700

GeneticVariation

CLINVAR

FANCJ/BACH1 acetylation at lysine 1249 regulates the DNA damage response.

22792074

2012

dbSNP:

rs779741278

Entrez Id:	83990
Gene Symbol:	BRIP1

BRIP1

CUI:	C1836860
Disease:

FANCONI ANEMIA, COMPLEMENTATION GROUP J

0.700

GeneticVariation

CLINVAR

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

21127055

2011

dbSNP:

rs779741278

Entrez Id:	83990
Gene Symbol:	BRIP1

BRIP1

CUI:	C1836860
Disease:

FANCONI ANEMIA, COMPLEMENTATION GROUP J

0.700

GeneticVariation

CLINVAR

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

20159562

2010