DisGeNET - a database of gene-disease associations

Source: CURATED

Disease: Malignant neoplasm of breast ×

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:

rs10069690

TERT

CUI:	C0006142
Disease:	Malignant neoplasm of breast

Malignant neoplasm of breast

0.750

GeneticVariation

GWASDB

Large-scale genotyping identifies 41 new loci associated with breast cancer risk.

23535729

2013

dbSNP:

rs10069690

TERT

CUI:	C0006142
Disease:	Malignant neoplasm of breast

Malignant neoplasm of breast

0.750

GeneticVariation

GWASDB

We identified a common risk variant for ER-negative breast cancer at the TERT-CLPTM1L locus on chromosome 5p15 (rs10069690: per-allele odds ratio (OR) = 1.18 per allele, P = 1.0 × 10(-10)).

22037553

2011

dbSNP:

rs10069690

TERT

CUI:	C0006142
Disease:	Malignant neoplasm of breast

Malignant neoplasm of breast

0.750

GeneticVariation

GWASDB

Genome-wide association studies identify four ER negative-specific breast cancer risk loci.

23535733

2013

dbSNP:

rs1011970

CDKN2B-AS1

CUI:	C0006142
Disease:	Malignant neoplasm of breast

Malignant neoplasm of breast

0.740

GeneticVariation

GWASDB

Genome-wide association study identifies five new breast cancer susceptibility loci.

20453838

2010

dbSNP:

rs1011970

CDKN2B-AS1

CUI:	C0006142
Disease:	Malignant neoplasm of breast

Malignant neoplasm of breast

0.740

GeneticVariation

GWASDB

Large-scale genotyping identifies 41 new loci associated with breast cancer risk.

23535729

2013

dbSNP:

rs1016604233

TBXAS1

CUI:	C0006142
Disease:	Malignant neoplasm of breast

Malignant neoplasm of breast

0.700

GeneticVariation

UNIPROT

dbSNP:

rs1033602309

SHROOM2

CUI:	C0006142
Disease:	Malignant neoplasm of breast

Malignant neoplasm of breast

0.700

GeneticVariation

UNIPROT

dbSNP:

rs1034429230

PACC1

CUI:	C0006142
Disease:	Malignant neoplasm of breast

Malignant neoplasm of breast

0.700

GeneticVariation

UNIPROT

dbSNP:

rs10402468

BABAM1 ; USHBP1

CUI:	C0006142
Disease:	Malignant neoplasm of breast

Malignant neoplasm of breast

0.700

GeneticVariation

GWASDB

A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population.

20852631

2010

dbSNP:

rs10406920

BABAM1 ; USHBP1

CUI:	C0006142
Disease:	Malignant neoplasm of breast

Malignant neoplasm of breast

0.700

GeneticVariation

GWASDB

A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population.

20852631

2010

dbSNP:

rs10415471

USHBP1

CUI:	C0006142
Disease:	Malignant neoplasm of breast

Malignant neoplasm of breast

0.700

GeneticVariation

GWASDB

A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population.

20852631

2010

dbSNP:

rs10416654

BABAM1 ; USHBP1

CUI:	C0006142
Disease:	Malignant neoplasm of breast

Malignant neoplasm of breast

0.700

GeneticVariation

GWASDB

A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population.

20852631

2010

dbSNP:

rs10418154

BABAM1 ; USHBP1

CUI:	C0006142
Disease:	Malignant neoplasm of breast

Malignant neoplasm of breast

0.700

GeneticVariation

GWASDB

A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population.

20852631

2010

dbSNP:

rs10418362

BABAM1 ; USHBP1

CUI:	C0006142
Disease:	Malignant neoplasm of breast

Malignant neoplasm of breast

0.700

GeneticVariation

GWASDB

A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population.

20852631

2010

dbSNP:

rs10419397

BABAM1 ; USHBP1 ; ANKLE1

CUI:	C0006142
Disease:	Malignant neoplasm of breast

Malignant neoplasm of breast

0.700

GeneticVariation

GWASDB

A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population.

20852631

2010

dbSNP:

rs10419742

NR2F6

CUI:	C0006142
Disease:	Malignant neoplasm of breast

Malignant neoplasm of breast

0.700

GeneticVariation

GWASDB

A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population.

20852631

2010

dbSNP:

rs10420922

BABAM1 ; USHBP1

CUI:	C0006142
Disease:	Malignant neoplasm of breast

Malignant neoplasm of breast

0.700

GeneticVariation

GWASDB

A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population.

20852631

2010

dbSNP:

rs10421287

NR2F6

CUI:	C0006142
Disease:	Malignant neoplasm of breast

Malignant neoplasm of breast

0.700

GeneticVariation

GWASDB

A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population.

20852631

2010

dbSNP:

rs10423120

DDA1

CUI:	C0006142
Disease:	Malignant neoplasm of breast

Malignant neoplasm of breast

0.700

GeneticVariation

GWASDB

A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population.

20852631

2010

dbSNP:

rs10424178

BABAM1 ; USHBP1

CUI:	C0006142
Disease:	Malignant neoplasm of breast

Malignant neoplasm of breast

0.700

GeneticVariation

GWASDB

A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population.

20852631

2010

dbSNP:

rs10424198

MRPL34 ; ABHD8

CUI:	C0006142
Disease:	Malignant neoplasm of breast

Malignant neoplasm of breast

0.700

GeneticVariation

GWASDB

A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population.

20852631

2010

dbSNP:

rs10425939

ANKLE1

CUI:	C0006142
Disease:	Malignant neoplasm of breast

Malignant neoplasm of breast

0.700

GeneticVariation

GWASDB

A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population.

20852631

2010

dbSNP:

rs10426697

BABAM1 ; USHBP1

CUI:	C0006142
Disease:	Malignant neoplasm of breast

Malignant neoplasm of breast

0.700

GeneticVariation

GWASDB

A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population.

20852631

2010

dbSNP:

rs10472076

CUI:	C0006142
Disease:	Malignant neoplasm of breast

Malignant neoplasm of breast

0.700

GeneticVariation

GWASDB

Large-scale genotyping identifies 41 new loci associated with breast cancer risk.

23535729

2013

dbSNP:

rs104886003

PIK3CA

CUI:	C0006142
Disease:	Malignant neoplasm of breast

Malignant neoplasm of breast

0.760

GeneticVariation

UNIPROT

PIK3CA mutation and histological type in breast carcinoma: high frequency of mutations in lobular carcinoma.

16353168

2006