DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) ×

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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:	672
Gene Symbol:	BRCA1

BRCA1

CUI:	C3469521
Disease:	FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)

FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)

0.200

CausalMutation

CLINVAR

Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype.

2015