DisGeNET - a database of gene-disease associations

Gallbladder Carcinoma, C0235782

Source: ALL

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs104886003

PIK3CA

0.720

GeneticVariation

CLINVAR

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

26619011

2016

dbSNP:

rs104886003

PIK3CA

0.720

GeneticVariation

CLINVAR

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

26619011

2016

dbSNP:

rs104886003

PIK3CA

0.720

GeneticVariation

BEFREE

Mutations in exons 9 (E542K, E545G, E545K) and 20 (H1047L and H1047R) of PI3K were determined by direct sequencing in 130 cases of GBC.

26947513

2016

dbSNP:

rs104886003

PIK3CA

0.720

GeneticVariation

BEFREE

The E545K mutation promoted GBC progression through enhanced binding to EGFR and activating downstream akt activity.

27317099

2016

dbSNP:

rs1057519738

ERBB2 ; MIR4728

0.700

GeneticVariation

CLINVAR

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

26619011

2016

dbSNP:

rs1057519893

ERBB3

0.700

GeneticVariation

CLINVAR

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

26619011

2016

dbSNP:

rs1057519893

ERBB3

0.700

GeneticVariation

CLINVAR

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

26619011

2016

dbSNP:

rs1057519991

TP53

0.700

GeneticVariation

CLINVAR

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

26619011

2016

dbSNP:

rs1057520002

TP53

0.700

GeneticVariation

CLINVAR

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

26619011

2016

dbSNP:

rs1057520002

TP53

0.700

GeneticVariation

CLINVAR

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

26619011

2016

dbSNP:

rs121913274

PIK3CA

0.700

GeneticVariation

CLINVAR

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

26619011

2016

dbSNP:

rs121913274

PIK3CA

0.700

GeneticVariation

CLINVAR

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

26619011

2016

dbSNP:

rs121913275

PIK3CA

0.700

GeneticVariation

CLINVAR

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

26619011

2016

dbSNP:

rs138729528

TP53

0.700

GeneticVariation

CLINVAR

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

26619011

2016

dbSNP:

rs138729528

TP53

0.700

GeneticVariation

CLINVAR

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

26619011

2016

dbSNP:

rs28934573

TP53

0.700

GeneticVariation

CLINVAR

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

26619011

2016

dbSNP:

rs28934573

TP53

0.700

GeneticVariation

CLINVAR

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

26619011

2016

dbSNP:

rs28934573

TP53

0.700

GeneticVariation

CLINVAR

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

26619011

2016

dbSNP:

rs587780070

TP53

0.700

GeneticVariation

CLINVAR

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

26619011

2016

dbSNP:

rs587780070

TP53

0.700

GeneticVariation

CLINVAR

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

26619011

2016

dbSNP:

rs587780070

TP53

0.700

GeneticVariation

CLINVAR

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

26619011

2016

dbSNP:

rs876660821

TP53

0.700

GeneticVariation

CLINVAR

Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

26619011

2016

dbSNP:

rs1048943

CYP1A1

0.040

GeneticVariation

BEFREE

These results suggest that the Val allele of CYP1A1 Ile462Val polymorphism and the Pro allele of TP53 Arg72Pro polymorphism contribute to an increased risk of GBC among Japanese women and men, respectively.

17531965

2007

dbSNP:

rs1048943

CYP1A1

0.040

GeneticVariation

BEFREE

Single locus analysis showed association of MMP-2 (-735 C > T, -1306 C > T), MMP-7 - 181 A > G, MMP-9 (P574R, R668Q), TIMP-2 - 418 G > C, CYP1A1-MspI, CYP1A1-Ile462Val, PLCE1 (rs2274223 A > G, rs7922612 T > C) and LXR-beta T > C (rs3546355 G > A, rs2695121 T > C) polymorphisms with GBC risk (p < 0.05) whereas CYP1B1 and LXR-α variants were not associated with GBC risk.

24863943

2014

dbSNP:

rs1048943

CYP1A1

0.040

GeneticVariation

BEFREE

CYP1A1-MspI [CC] and CYP1A1-Ile462Val [iso/val] genotypes were found to be significantly associated with GBC (p=0.006 and p=0.03, respectively), as compared to healthy controls, while CYP1B1-Val432Leu was not associated with GBC.

24535777

2014