DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP D1 ×

Gene: BRCA2 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	675
Gene Symbol:	BRCA2

BRCA2

CUI:	C1838457
Disease:	FANCONI ANEMIA, COMPLEMENTATION GROUP D1

FANCONI ANEMIA, COMPLEMENTATION GROUP D1

0.920

CausalMutation

CLINVAR

Essential Role of BRCA2 in Ovarian Development and Function.

30207912

2018

Entrez Id:	675
Gene Symbol:	BRCA2

BRCA2

CUI:	C1838457
Disease:	FANCONI ANEMIA, COMPLEMENTATION GROUP D1

FANCONI ANEMIA, COMPLEMENTATION GROUP D1

0.920

GeneticVariation

CLINVAR