DisGeNET - a database of gene-disease associations

Fanconi Anemia, C0015625

Variant: rs1555536446 ×

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:

rs1555536446

FANCA

0.700

CausalMutation

CLINVAR

Founder haplotype analysis of Fanconi anemia in the Korean population finds common ancestral haplotypes for a FANCG variant.

25703136

2015

dbSNP:

rs1555536446

FANCA

0.700

CausalMutation

CLINVAR

Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia.

23613520

2013

dbSNP:

rs1555536446

FANCA

0.700

CausalMutation

CLINVAR

LOVD v.2.0: the next generation in gene variant databases.

21520333

2011

dbSNP:

rs1555536446

FANCA

0.700

CausalMutation

CLINVAR

Genetic subtyping of Fanconi anemia by comprehensive mutation screening.

17924555

2008

dbSNP:

rs1555536446

FANCA

0.700

CausalMutation

CLINVAR

A rapid method for retrovirus-mediated identification of complementation groups in Fanconi anemia patients.

16084127

2005

dbSNP:

rs1555536446

FANCA

0.700

CausalMutation

CLINVAR

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

12444097

2002

dbSNP:

rs1555536446

FANCA

0.700

CausalMutation

CLINVAR

Genes regulated by androgen in the rat ventral prostate.

9371789

1997