DisGeNET - a database of gene-disease associations

Neoplastic Syndromes, Hereditary, C0027672

Variant: rs1131690935 ×

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:

rs1131690935

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:

rs1131690935

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:

rs1131690935

STK11

0.700

GeneticVariation

CLINVAR

Predicting the functional effect of amino acid substitutions and indels.

23056405

2012

dbSNP:

rs1131690935

STK11

0.700

GeneticVariation

CLINVAR

Novel mutations in the STK11 gene in Thai patients with Peutz-Jeghers syndrome.

19908348

2009

dbSNP:

rs1131690935

STK11

0.700

GeneticVariation

CLINVAR

SIRT1 modulation of the acetylation status, cytosolic localization, and activity of LKB1. Possible role in AMP-activated protein kinase activation.

18687677

2008

dbSNP:

rs1131690935

STK11

0.700

GeneticVariation

CLINVAR

Novel mutations in the LKB1/STK11 gene in Dutch Peutz-Jeghers families.

10408777

1999

dbSNP:

rs1131690935

STK11

0.700

GeneticVariation

CLINVAR

Morphology-dependent resonances in a large dielectric sphere: An asymptotic calculation using local coordinates.

9908348

1992