DisGeNET - a database of gene-disease associations

Peutz-Jeghers Syndrome, C0031269

Variant: rs1568708382 ×

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:

rs1568708382

STK11

0.700

GeneticVariation

CLINVAR

STK11 domain XI mutations: candidate genetic drivers leading to the development of dysplastic polyps in Peutz-Jeghers syndrome.

24652667

2014

dbSNP:

rs1568708382

STK11

0.700

GeneticVariation

CLINVAR

Cancer risk associated with STK11/LKB1 germline mutations in Peutz-Jeghers syndrome patients: results of an Italian multicenter study.

23415580

2013

dbSNP:

rs1568708382

STK11

0.700

GeneticVariation

CLINVAR

Exonic STK11 deletions are not a rare cause of Peutz-Jeghers syndrome.

16582077

2006

dbSNP:

rs1568708382

STK11

0.700

GeneticVariation

CLINVAR

Mutations in the human LKB1/STK11 gene.

16110486

2005

dbSNP:

rs1568708382

STK11

0.700

GeneticVariation

CLINVAR

STK11 genotyping and cancer risk in Peutz-Jeghers syndrome.

15863673

2005

dbSNP:

rs1568708382

STK11

0.700

GeneticVariation

CLINVAR

Further observations on LKB1/STK11 status and cancer risk in Peutz-Jeghers syndrome.

12865922

2003

dbSNP:

rs1568708382

STK11

0.700

GeneticVariation

CLINVAR

Peutz-Jeghers families unlinked to STK11/LKB1 gene mutations are highly predisposed to primitive biliary adenocarcinoma.

11389158

2001