Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome
1.000 GeneticVariation LHGDN Although a tentative molecular classification of PJS patients was recently made according to their LKB1 mutation status, it is difficult to clarify the genotype-phenotype relationship because of the rarity and genetic heterogeneity of this disease. 18600394

2008

Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome
1.000 Biomarker LHGDN Here we review how the substrates and cellular functions of LKB1 may be linked to Peutz-Jeghers syndrome and other diseases, and discuss how some of the molecular changes associated with altered LKB1 signaling might be used in therapeutic approaches. 17010524

2007

Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome
1.000 GeneticVariation LHGDN Here we report the results of a first mutational screen of STK11/LKB1 in PJS patients characterized in Slovak population. 17319781

2007

Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome
1.000 GeneticVariation LHGDN STK11 gene mutation can be detected in most patients with PJS. 17637250

2007

Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome
1.000 GeneticVariation LHGDN These findings demonstrate that exonic STK11 deletions are a common cause of PJS and provide a strong rationale for conducting a primary screen for such mutations in patients. 16582077

2006

Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome
1.000 GeneticVariation LHGDN To seek evidence for LKB1 germline deletions or duplications by screening patients meeting clinical criteria for PJS but without detected mutations on conventional screening. 16648371

2006

Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome
1.000 GeneticVariation LHGDN This suggests that pathogenic LKB1 mutations that lead to activation of the Wnt/beta-catenin pathway could contribute to the cancer predisposition of PJS patients. 15731909

2005

Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome
1.000 GeneticVariation LHGDN High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome. 16287113

2005

Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome
1.000 GeneticVariation LHGDN This is the first report of a STK11 germline mutation in a PJS patient with GC and should contribute to establishing correlations between the STK11 germline mutations and GC in PJS patients. 15617552

2005

Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome
1.000 Biomarker LHGDN A series of 33 PJS cases in whom no mutation in STK11/LKB1 could be identified were screened for sequence changes in the putative promoter defined by nucleotides -1090 to -1472. 15774015

2005

Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome
1.000 GeneticVariation LHGDN Eight candidate genes mapping to the breakpoint region--U2AF2, EPN1, NALP4, NALP11, NALP5, ZNF444, PTPRH, and KIAA1811--were screened for mutations in germ-line and polyp DNA from the case and from 15 PJS cases that did not harbor germ-line STK11 mutations. 15287029

2004

Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome
1.000 GeneticVariation LHGDN Analysis of the LKB1-STRAD-MO25 complex. 15561763

2004

Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome
1.000 GeneticVariation LHGDN Here we show that LKB1, the gene mutated in PJS, acts as a tumor suppressor by activating TSC2, the gene mutated in TSC. 15231735

2004

Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome
1.000 GeneticVariation LHGDN Sequencing analysis of the STK11/LKB1 gene in these IPMNs with LOH revealed a germline mutation in one IPMN that arose in a patient with PJS and a somatic mutation in 1 of the 20 sporadic IPMNs. 11733352

2001

Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome
1.000 GeneticVariation LHGDN As a consequence of novel mutational mechanisms identified we discuss the impact of RNA based strategies for the detection of germinal STK11 mutations in PJS. 11668633

2001