DisGeNET - a database of gene-disease associations

Source: CURATED

Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 ×

Variant: rs80357522 ×

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:

rs80357522

BRCA1

CUI:	C2676676
Disease:	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1

BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1

0.700

CausalMutation

CLINVAR

Nonequivalent gene expression and copy number alterations in high-grade serous ovarian cancers with BRCA1 and BRCA2 mutations.

23633455

2013

dbSNP:

rs80357522

BRCA1

CUI:	C2676676
Disease:	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1

BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1

0.700

CausalMutation

CLINVAR

Germline mutations of the BRCA1 gene in breast and ovarian cancer families provide evidence for a genotype-phenotype correlation.

7493024

1995

dbSNP:

rs80357522

BRCA1

CUI:	C2676676
Disease:	BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1

BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1

0.700

CausalMutation

CLINVAR