DisGeNET - a database of gene-disease associations

Source: ALL

Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S ×

Gene: BRCA1 ×

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:

rs45553935

BRCA1

CUI:	C4554406
Disease:	FANCONI ANEMIA, COMPLEMENTATION GROUP S

FANCONI ANEMIA, COMPLEMENTATION GROUP S

0.800

GeneticVariation

UNIPROT

Homozygous loss of function BRCA1 variant causing a Fanconi-anemia-like phenotype, a clinical report and review of previous patients.

29133208

2018

dbSNP:

rs45553935

BRCA1

CUI:	C4554406
Disease:	FANCONI ANEMIA, COMPLEMENTATION GROUP S

FANCONI ANEMIA, COMPLEMENTATION GROUP S

0.800

GeneticVariation

UNIPROT

Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype.

25472942

2015

dbSNP:

rs45553935

BRCA1

CUI:	C4554406
Disease:	FANCONI ANEMIA, COMPLEMENTATION GROUP S

FANCONI ANEMIA, COMPLEMENTATION GROUP S

0.800

GeneticVariation

UNIPROT

Biallelic deleterious BRCA1 mutations in a woman with early-onset ovarian cancer.

23269703

2013

dbSNP:

rs45553935

BRCA1

CUI:	C4554406
Disease:	FANCONI ANEMIA, COMPLEMENTATION GROUP S

FANCONI ANEMIA, COMPLEMENTATION GROUP S

0.800

CausalMutation

CLINVAR

dbSNP:

rs55770810

BRCA1

CUI:	C4554406
Disease:	FANCONI ANEMIA, COMPLEMENTATION GROUP S

FANCONI ANEMIA, COMPLEMENTATION GROUP S

0.800

CausalMutation

CLINVAR

dbSNP:

rs55770810

BRCA1

CUI:	C4554406
Disease:	FANCONI ANEMIA, COMPLEMENTATION GROUP S

FANCONI ANEMIA, COMPLEMENTATION GROUP S

0.800

GeneticVariation

UNIPROT

dbSNP:

rs1555589094

BRCA1

CUI:	C4554406
Disease:	FANCONI ANEMIA, COMPLEMENTATION GROUP S

FANCONI ANEMIA, COMPLEMENTATION GROUP S

0.700

CausalMutation

CLINVAR

dbSNP:

rs273899698

BRCA1

CUI:	C4554406
Disease:	FANCONI ANEMIA, COMPLEMENTATION GROUP S

FANCONI ANEMIA, COMPLEMENTATION GROUP S

0.700

CausalMutation

CLINVAR

dbSNP:

rs28897672

BRCA1

CUI:	C4554406
Disease:	FANCONI ANEMIA, COMPLEMENTATION GROUP S

FANCONI ANEMIA, COMPLEMENTATION GROUP S

0.700

CausalMutation

CLINVAR

dbSNP:

rs397508838

BRCA1

CUI:	C4554406
Disease:	FANCONI ANEMIA, COMPLEMENTATION GROUP S

FANCONI ANEMIA, COMPLEMENTATION GROUP S

0.700

CausalMutation

CLINVAR

dbSNP:

rs41293455

BRCA1

CUI:	C4554406
Disease:	FANCONI ANEMIA, COMPLEMENTATION GROUP S

FANCONI ANEMIA, COMPLEMENTATION GROUP S

0.700

CausalMutation

CLINVAR

dbSNP:

rs62625307

BRCA1

CUI:	C4554406
Disease:	FANCONI ANEMIA, COMPLEMENTATION GROUP S

FANCONI ANEMIA, COMPLEMENTATION GROUP S

0.700

CausalMutation

CLINVAR

dbSNP:

rs797045175

BRCA1

CUI:	C4554406
Disease:	FANCONI ANEMIA, COMPLEMENTATION GROUP S

FANCONI ANEMIA, COMPLEMENTATION GROUP S

0.700

CausalMutation

CLINVAR

dbSNP:

rs80356880

BRCA1

CUI:	C4554406
Disease:	FANCONI ANEMIA, COMPLEMENTATION GROUP S

FANCONI ANEMIA, COMPLEMENTATION GROUP S

0.700

CausalMutation

CLINVAR

dbSNP:

rs80356885

BRCA1

CUI:	C4554406
Disease:	FANCONI ANEMIA, COMPLEMENTATION GROUP S

FANCONI ANEMIA, COMPLEMENTATION GROUP S

0.700

CausalMutation

CLINVAR

dbSNP:

rs80356898

BRCA1

CUI:	C4554406
Disease:	FANCONI ANEMIA, COMPLEMENTATION GROUP S

FANCONI ANEMIA, COMPLEMENTATION GROUP S

0.700

CausalMutation

CLINVAR

dbSNP:

rs80356962

BRCA1

CUI:	C4554406
Disease:	FANCONI ANEMIA, COMPLEMENTATION GROUP S

FANCONI ANEMIA, COMPLEMENTATION GROUP S

0.700

CausalMutation

CLINVAR

dbSNP:

rs80356978

BRCA1

CUI:	C4554406
Disease:	FANCONI ANEMIA, COMPLEMENTATION GROUP S

FANCONI ANEMIA, COMPLEMENTATION GROUP S

0.700

CausalMutation

CLINVAR

dbSNP:

rs80357123

BRCA1

CUI:	C4554406
Disease:	FANCONI ANEMIA, COMPLEMENTATION GROUP S

FANCONI ANEMIA, COMPLEMENTATION GROUP S

0.700

CausalMutation

CLINVAR

dbSNP:

rs80357202

BRCA1

CUI:	C4554406
Disease:	FANCONI ANEMIA, COMPLEMENTATION GROUP S

FANCONI ANEMIA, COMPLEMENTATION GROUP S

0.700

CausalMutation

CLINVAR

dbSNP:

rs80357346

BRCA1

CUI:	C4554406
Disease:	FANCONI ANEMIA, COMPLEMENTATION GROUP S

FANCONI ANEMIA, COMPLEMENTATION GROUP S

0.700

CausalMutation

CLINVAR

dbSNP:

rs80357350

BRCA1

CUI:	C4554406
Disease:	FANCONI ANEMIA, COMPLEMENTATION GROUP S

FANCONI ANEMIA, COMPLEMENTATION GROUP S

0.700

CausalMutation

CLINVAR

dbSNP:

rs80357382

BRCA1

CUI:	C4554406
Disease:	FANCONI ANEMIA, COMPLEMENTATION GROUP S

FANCONI ANEMIA, COMPLEMENTATION GROUP S

0.700

CausalMutation

CLINVAR

dbSNP:

rs80357440

BRCA1

CUI:	C4554406
Disease:	FANCONI ANEMIA, COMPLEMENTATION GROUP S

FANCONI ANEMIA, COMPLEMENTATION GROUP S

0.700

CausalMutation

CLINVAR

dbSNP:

rs80357446

BRCA1

CUI:	C4554406
Disease:	FANCONI ANEMIA, COMPLEMENTATION GROUP S

FANCONI ANEMIA, COMPLEMENTATION GROUP S

0.700

CausalMutation

CLINVAR