DisGeNET - a database of gene-disease associations

Fanconi Anemia, C0015625

Variant: rs574034197 ×

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:

rs574034197

FANCA

0.700

CausalMutation

CLINVAR

Diagnosis of Fanconi Anemia: Mutation Analysis by Multiplex Ligation-Dependent Probe Amplification and PCR-Based Sanger Sequencing.

22778927

2012

dbSNP:

rs574034197

FANCA

0.700

CausalMutation

CLINVAR

Diagnosis of Fanconi anemia in patients with bone marrow failure.

19278965

2009

dbSNP:

rs574034197

FANCA

0.700

CausalMutation

CLINVAR

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

19367192

2009

dbSNP:

rs574034197

FANCA

0.700

CausalMutation

CLINVAR

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

15643609

2005

dbSNP:

rs574034197

FANCA

0.700

CausalMutation

CLINVAR

Heterogeneous activation of the Fanconi anemia pathway by patient-derived FANCA mutants.

12444097

2002

dbSNP:

rs574034197

FANCA

0.700

CausalMutation

CLINVAR

Sequence variation in the Fanconi anemia gene FAA.

9371798

1997

dbSNP:

rs574034197

FANCA

0.700

CausalMutation

CLINVAR

Leucocyte count as an alternative to ESR in general practice?

1792455

1991