DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Neoplastic Syndromes, Hereditary ×

Gene: STK11 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	6794
Gene Symbol:	STK11

STK11

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.120

GeneticVariation

CLINVAR

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

12865922

2003

Entrez Id:	6794
Gene Symbol:	STK11

STK11

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.120

CausalMutation

CLINVAR

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

12865922

2003

Entrez Id:	6794
Gene Symbol:	STK11

STK11

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.120

CausalMutation

CLINVAR

High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome.

16287113

2005

Entrez Id:	6794
Gene Symbol:	STK11

STK11

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.120

GeneticVariation

CLINVAR

An unusual case of sex cord tumor with annular tubules with malignant transformation in a patient with Peutz-Jeghers syndrome.

19952941

2010

Entrez Id:	6794
Gene Symbol:	STK11

STK11

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.120

CausalMutation

CLINVAR

Mutations and impaired function of LKB1 in familial and non-familial Peutz-Jeghers syndrome and a sporadic testicular cancer.

9887330

1999

Entrez Id:	6794
Gene Symbol:	STK11

STK11

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.120

CausalMutation

CLINVAR

Molecular and clinical characteristics in 46 families affected with Peutz-Jeghers syndrome.

17404884

2007

Entrez Id:	6794
Gene Symbol:	STK11

STK11

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.120

GeneticVariation

CLINVAR

High prevalence of germline STK11 mutations in Hungarian Peutz-Jeghers Syndrome patients.

21118512

2010

Entrez Id:	6794
Gene Symbol:	STK11

STK11

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.120

GeneticVariation

CLINVAR

Structure of the LKB1-STRAD-MO25 complex reveals an allosteric mechanism of kinase activation.

19892943

2009

Entrez Id:	6794
Gene Symbol:	STK11

STK11

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.120

GeneticVariation

CLINVAR

Cancer risks in LKB1 germline mutation carriers.

16407375

2006

Entrez Id:	6794
Gene Symbol:	STK11

STK11

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.120

GeneticVariation

CLINVAR

STK11 genotyping and cancer risk in Peutz-Jeghers syndrome.

15863673

2005

Entrez Id:	6794
Gene Symbol:	STK11

STK11

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.120

CausalMutation

CLINVAR

Two novel mutations and a new STK11/LKB1 gene isoform in Peutz-Jeghers patients.

12112668

2002

Entrez Id:	6794
Gene Symbol:	STK11

STK11

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.120

CausalMutation

CLINVAR

Mutations in the human LKB1/STK11 gene.

16110486

2005

Entrez Id:	6794
Gene Symbol:	STK11

STK11

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.120

GeneticVariation

CLINVAR

Frequency and spectrum of cancers in the Peutz-Jeghers syndrome.

16707622

2006

Entrez Id:	6794
Gene Symbol:	STK11

STK11

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.120

CausalMutation

CLINVAR

Structure of the LKB1-STRAD-MO25 complex reveals an allosteric mechanism of kinase activation.

19892943

2009

Entrez Id:	6794
Gene Symbol:	STK11

STK11

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.120

CausalMutation

CLINVAR

An LKB1 AT-AC intron mutation causes Peutz-Jeghers syndrome via splicing at noncanonical cryptic splice sites.

15608654

2005

Entrez Id:	6794
Gene Symbol:	STK11

STK11

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.120

GeneticVariation

CLINVAR

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

11389158

2001

Entrez Id:	6794
Gene Symbol:	STK11

STK11

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.120

CausalMutation

CLINVAR

STK11 genotyping and cancer risk in Peutz-Jeghers syndrome.

15863673

2005

Entrez Id:	6794
Gene Symbol:	STK11

STK11

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.120

CausalMutation

CLINVAR

Nine novel germline mutations of STK11 in ten families with Peutz-Jeghers syndrome.

9760200

1998

Entrez Id:	6794
Gene Symbol:	STK11

STK11

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.120

GeneticVariation

CLINVAR

Relative frequency and morphology of cancers in STK11 mutation carriers.

15188174

2004

Entrez Id:	6794
Gene Symbol:	STK11

STK11

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.120

CausalMutation

CLINVAR

A serine/threonine kinase gene defective in Peutz-Jeghers syndrome.

9428765

1998

Entrez Id:	6794
Gene Symbol:	STK11

STK11

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.120

CausalMutation

CLINVAR

Genetic defects underlying Peutz-Jeghers syndrome (PJS) and exclusion of the polarity-associated MARK/Par1 gene family as potential PJS candidates.

17924967

2007

Entrez Id:	6794
Gene Symbol:	STK11

STK11

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.120

GeneticVariation

CLINVAR

Predicting the functional effect of amino acid substitutions and indels.

23056405

2012

Entrez Id:	6794
Gene Symbol:	STK11

STK11

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.120

GeneticVariation

CLINVAR

Mutations and impaired function of LKB1 in familial and non-familial Peutz-Jeghers syndrome and a sporadic testicular cancer.

9887330

1999

Entrez Id:	6794
Gene Symbol:	STK11

STK11

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.120

CausalMutation

CLINVAR

Relative frequency and morphology of cancers in STK11 mutation carriers.

15188174

2004

Entrez Id:	6794
Gene Symbol:	STK11

STK11

CUI:	C0027672
Disease:	Neoplastic Syndromes, Hereditary

Neoplastic Syndromes, Hereditary

0.120

GeneticVariation

CLINVAR

High Resolution Melting analysis as a rapid and efficient method of screening for small mutations in the STK11 gene in patients with Peutz-Jeghers syndrome.

23718779

2013