STK11, serine/threonine kinase 11, 6794

N. diseases: 372; N. variants: 145
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs730881979
rs730881979
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease:
Peutz-Jeghers Syndrome 		0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965 2015
dbSNP: rs730881979
rs730881979
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease:
Peutz-Jeghers Syndrome 		0.800 GeneticVariation UNIPROT A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. 25394175 2015
dbSNP: rs730881979
rs730881979
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease:
Peutz-Jeghers Syndrome 		0.800 GeneticVariation UNIPROT ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. 25645574 2015
dbSNP: rs121913315
rs121913315
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease:
Peutz-Jeghers Syndrome 		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: rs730881979
rs730881979
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease:
Peutz-Jeghers Syndrome 		A 0.800 CausalMutation CLINVAR Novel and recurrent mutations of STK11 gene in six Chinese cases with Peutz-Jeghers syndrome. 24604241 2014
dbSNP: rs730881979
rs730881979
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease:
Peutz-Jeghers Syndrome 		A 0.800 CausalMutation CLINVAR STK11 domain XI mutations: candidate genetic drivers leading to the development of dysplastic polyps in Peutz-Jeghers syndrome. 24652667 2014
dbSNP: rs1057520042
rs1057520042
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease:
Peutz-Jeghers Syndrome 		0.800 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
dbSNP: rs121913315
rs121913315
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease:
Peutz-Jeghers Syndrome 		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
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease:
Peutz-Jeghers Syndrome 		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
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease:
Peutz-Jeghers Syndrome 		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: rs137853082
rs137853082
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease:
Peutz-Jeghers Syndrome 		0.800 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
dbSNP: rs730881979
rs730881979
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease:
Peutz-Jeghers Syndrome 		0.800 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
dbSNP: rs1057520042
rs1057520042
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease:
Peutz-Jeghers Syndrome 		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
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease:
Peutz-Jeghers Syndrome 		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
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease:
Peutz-Jeghers Syndrome 		A 0.800 CausalMutation CLINVAR mTOR inhibitor treatment of pancreatic cancer in a patient With Peutz-Jeghers syndrome. 21189378 2011
dbSNP: rs137853082
rs137853082
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease:
Peutz-Jeghers Syndrome 		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
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease:
Peutz-Jeghers Syndrome 		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
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease:
Peutz-Jeghers Syndrome 		A 0.800 CausalMutation CLINVAR Structure of the LKB1-STRAD-MO25 complex reveals an allosteric mechanism of kinase activation. 19892943 2009
dbSNP: rs730881979
rs730881979
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease:
Peutz-Jeghers Syndrome 		A 0.800 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
dbSNP: rs121913315
rs121913315
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease:
Peutz-Jeghers Syndrome 		A 0.800 CausalMutation CLINVAR Exonic STK11 deletions are not a rare cause of Peutz-Jeghers syndrome. 16582077 2006
dbSNP: rs121913315
rs121913315
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease:
Peutz-Jeghers Syndrome 		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: rs1057520042
rs1057520042
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease:
Peutz-Jeghers Syndrome 		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
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease:
Peutz-Jeghers Syndrome 		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
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease:
Peutz-Jeghers Syndrome 		A 0.800 CausalMutation CLINVAR High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome. 16287113 2005
dbSNP: rs137853082
rs137853082
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease:
Peutz-Jeghers Syndrome 		0.800 GeneticVariation UNIPROT LKB1 interacts with and phosphorylates PTEN: a functional link between two proteins involved in cancer predisposing syndromes. 15987703 2005