DisGeNET - a database of gene-disease associations

FANCA, FA complementation group A, 2175

N. diseases: 211; N. variants: 206

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

Variant: rs555449842 ×

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:

rs555449842

Entrez Id:	2175
Gene Symbol:	FANCA

FANCA

CUI:	C3469521
Disease:

FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)

0.700

CausalMutation

CLINVAR

Validation of Fanconi anemia complementation Group A assignment using molecular analysis.

19367192

2009