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 ×

Variant: rs137852986 ×

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:

rs137852986

Entrez Id:	83990
Gene Symbol:	BRIP1

BRIP1

CUI:	C0015625
Disease:

Fanconi Anemia

0.700

CausalMutation

CLINVAR

Clinical characteristics and genetic subtypes of Fanconi anemia in Saudi patients.

26968956

2016

dbSNP:

rs137852986

Entrez Id:	83990
Gene Symbol:	BRIP1

BRIP1

CUI:	C0015625
Disease:

Fanconi Anemia

0.700

CausalMutation

CLINVAR

The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia.

16116424

2005

dbSNP:

rs137852986

Entrez Id:	83990
Gene Symbol:	BRIP1

BRIP1

CUI:	C0015625
Disease:

Fanconi Anemia

0.700

CausalMutation

CLINVAR

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

16116423

2005