DisGeNET - a database of gene-disease associations

Fanconi Anemia, C0015625

Variant: rs397507552 ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs397507552

FANCA

0.700

CausalMutation

CLINVAR

Molecular analysis of Fanconi anemia: the experience of the Bone Marrow Failure Study Group of the Italian Association of Pediatric Onco-Hematology.

24584348

2014

dbSNP:

rs397507552

FANCA

0.700

CausalMutation

CLINVAR

Origin, functional role, and clinical impact of Fanconi anemia FANCA mutations.

21273304

2011

dbSNP:

rs397507552

FANCA

0.700

CausalMutation

CLINVAR

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

19367192

2009

dbSNP:

rs397507552

FANCA

0.700

CausalMutation

CLINVAR

Genetic subtyping of Fanconi anemia by comprehensive mutation screening.

17924555

2008

dbSNP:

rs397507552

FANCA

0.700

CausalMutation

CLINVAR

Spectrum of sequence variations in the FANCA gene: an International Fanconi Anemia Registry (IFAR) study.

15643609

2005

dbSNP:

rs397507552

FANCA

0.700

CausalMutation

CLINVAR

Positional cloning of the Fanconi anaemia group A gene.

8896564

1996