DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Breast adenocarcinoma ×

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:

rs104886003

rs104886003

PIK3CA

0.562

0.440

3

179218303

missense variant

G/A;C

snv

4.0E-06

CUI:	C0858252
Disease:	Breast adenocarcinoma

Breast adenocarcinoma

0.700

dbSNP:

rs112445441

rs112445441

KRAS

0.658

0.400

12

25245347

missense variant

C/A;G;T

snv

CUI:	C0858252
Disease:	Breast adenocarcinoma

Breast adenocarcinoma

0.700

dbSNP:

rs121913279

rs121913279

PIK3CA

0.526

0.560

3

179234297

missense variant

A/G;T

snv

4.0E-06; 4.0E-06

CUI:	C0858252
Disease:	Breast adenocarcinoma

Breast adenocarcinoma

0.700

dbSNP:

rs121913286

rs121913286

PIK3CA

0.677

0.280

3

179218306

missense variant

C/A;G

snv

CUI:	C0858252
Disease:	Breast adenocarcinoma

Breast adenocarcinoma

0.700

dbSNP:

rs28934874

rs28934874

TP53

0.695

0.480

17

7675161

missense variant

G/A;C;T

snv

CUI:	C0858252
Disease:	Breast adenocarcinoma

Breast adenocarcinoma

0.700