Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913315
rs121913315
A 0.800 CausalMutation CLINVAR Use of aromatase inhibitors in large cell calcifying sertoli cell tumors: effects on gynecomastia, growth velocity, and bone age. 25226294

2014

dbSNP: rs121913315
rs121913315
A 0.800 CausalMutation CLINVAR Pancreatic cancer risk in Peutz-Jeghers syndrome patients: a large cohort study and implications for surveillance. 23240097

2013

dbSNP: rs121913315
rs121913315
A 0.800 CausalMutation 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

dbSNP: rs121913315
rs121913315
A 0.800 CausalMutation CLINVAR Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps. 23399955

2013

dbSNP: rs121913315
rs121913315
0.800 GeneticVariation UNIPROT A novel de novo mutation in LKB1 gene in a Chinese Peutz Jeghers syndrome patient significantly diminished p53 activity. 21411391

2011

dbSNP: rs121913315
rs121913315
A 0.800 CausalMutation CLINVAR mTOR inhibitor treatment of pancreatic cancer in a patient With Peutz-Jeghers syndrome. 21189378

2011

dbSNP: rs121913315
rs121913315
A 0.800 CausalMutation CLINVAR Alu-mediated genomic deletion of the serine/threonine protein kinase 11 (STK11) gene in Peutz-Jeghers syndrome. 20435009

2010

dbSNP: rs121913315
rs121913315
A 0.800 CausalMutation CLINVAR Structure of the LKB1-STRAD-MO25 complex reveals an allosteric mechanism of kinase activation. 19892943

2009

dbSNP: rs121913315
rs121913315
A 0.800 CausalMutation CLINVAR Exonic STK11 deletions are not a rare cause of Peutz-Jeghers syndrome. 16582077

2006

dbSNP: rs121913315
rs121913315
A 0.800 CausalMutation CLINVAR An updated mutation spectrum in an Australian series of PJS patients provides further evidence for only one gene locus. 17026623

2006

dbSNP: rs121913315
rs121913315
0.800 GeneticVariation UNIPROT LKB1 interacts with and phosphorylates PTEN: a functional link between two proteins involved in cancer predisposing syndromes. 15987703

2005

dbSNP: rs121913315
rs121913315
A 0.800 CausalMutation CLINVAR High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome. 16287113

2005

dbSNP: rs121913315
rs121913315
A 0.800 CausalMutation CLINVAR LKB1 is a master kinase that activates 13 kinases of the AMPK subfamily, including MARK/PAR-1. 14976552

2004

dbSNP: rs121913315
rs121913315
A 0.800 CausalMutation CLINVAR Further observations on LKB1/STK11 status and cancer risk in Peutz-Jeghers syndrome. 12865922

2003

dbSNP: rs121913315
rs121913315
A 0.800 CausalMutation CLINVAR MO25alpha/beta interact with STRADalpha/beta enhancing their ability to bind, activate and localize LKB1 in the cytoplasm. 14517248

2003

dbSNP: rs121913315
rs121913315
0.800 GeneticVariation UNIPROT Mutation analysis of the STK11/LKB1 gene and clinical characteristics of an Australian series of Peutz-Jeghers syndrome patients. 12372054

2002

dbSNP: rs121913315
rs121913315
A 0.800 CausalMutation CLINVAR Novel mutations in the LKB1/STK11 gene in Dutch Peutz-Jeghers families. 10408777

1999

dbSNP: rs121913315
rs121913315
0.800 GeneticVariation UNIPROT Novel mutations in the LKB1/STK11 gene in Dutch Peutz-Jeghers families. 10408777

1999

dbSNP: rs121913315
rs121913315
0.800 GeneticVariation UNIPROT A serine/threonine kinase gene defective in Peutz-Jeghers syndrome. 9428765

1998

dbSNP: rs121913315
rs121913315
0.800 GeneticVariation UNIPROT Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase. 9425897

1998

dbSNP: rs121913315
rs121913315
0.800 GeneticVariation UNIPROT Nine novel germline mutations of STK11 in ten families with Peutz-Jeghers syndrome. 9760200

1998

dbSNP: rs121913315
rs121913315
0.800 GeneticVariation UNIPROT Loss of LKB1 kinase activity in Peutz-Jeghers syndrome, and evidence for allelic and locus heterogeneity. 9837816

1998