DisGeNET - a database of gene-disease associations

Source: CURATED

Disease: Breast Carcinoma ×

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

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF _EXOME

AF _GENOME

Disease

Score _vda

EI _vda

N_.PMIDs

FirstRef.

LastRef.

dbSNP:

rs28897672

rs28897672

BRCA1

0.732

0.280

17

43106487

missense variant

A/C;G;T

snv

3.2E-05

CUI:	C0678222
Disease:	Breast Carcinoma

Breast Carcinoma

0.770

1.000

2005

2019

dbSNP:

rs80356898

rs80356898

BRCA1

0.752

0.200

17

43093844

stop gained

G/A;C

snv

2.8E-05; 4.0E-06

CUI:	C0678222
Disease:	Breast Carcinoma

Breast Carcinoma

0.710

1.000

2003

2003

dbSNP:

rs80357474

rs80357474

BRCA1

0.827

0.200

17

43049188

missense variant

A/C;G;T

snv

8.0E-06

CUI:	C0678222
Disease:	Breast Carcinoma

Breast Carcinoma

0.710

1.000

2017

2017

dbSNP:

rs80357522

rs80357522

BRCA1

0.776

0.280

17

43093570

frameshift variant

TTTT/-;TT;TTT;TTTTT

delins

7.0E-06

CUI:	C0678222
Disease:	Breast Carcinoma

Breast Carcinoma

0.700

dbSNP:

rs80357678

rs80357678

BRCA1

0.851

0.200

17

43091614

frameshift variant

AA/-

del

CUI:	C0678222
Disease:	Breast Carcinoma

Breast Carcinoma

0.700