STK11, serine/threonine kinase 11, 6794

N. diseases: 231; N. variants: 115
Source: ALL
Variant Gene Disease Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913315
rs121913315
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease:
Peutz-Jeghers Syndrome
0.800 CausalMutation CLINVAR Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 28492532 2017
dbSNP: rs137853082
rs137853082
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease:
Peutz-Jeghers Syndrome
0.800 CausalMutation CLINVAR Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 28492532 2017
dbSNP: rs730881979
rs730881979
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease:
Peutz-Jeghers Syndrome
0.800 CausalMutation CLINVAR Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 28492532 2017
dbSNP: rs121913315
rs121913315
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease:
Peutz-Jeghers Syndrome
0.800 CausalMutation CLINVAR Use of aromatase inhibitors in large cell calcifying sertoli cell tumors: effects on gynecomastia, growth velocity, and bone age. 25226294 2015
dbSNP: rs121913315
rs121913315
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease:
Peutz-Jeghers Syndrome
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
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease:
Peutz-Jeghers Syndrome
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
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
0.800 CausalMutation CLINVAR mTOR inhibitor treatment of pancreatic cancer in a patient With Peutz-Jeghers syndrome. 21189378 2011
dbSNP: rs121913315
rs121913315
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease:
Peutz-Jeghers Syndrome
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
0.800 CausalMutation CLINVAR Structure of the LKB1-STRAD-MO25 complex reveals an allosteric mechanism of kinase activation. 19892943 2010
dbSNP: rs121913315
rs121913315
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease:
Peutz-Jeghers Syndrome
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
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease:
Peutz-Jeghers Syndrome
0.800 CausalMutation CLINVAR High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome. 16287113 2006
dbSNP: rs121913315
rs121913315
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease:
Peutz-Jeghers Syndrome
0.800 CausalMutation CLINVAR Exonic STK11 deletions are not a rare cause of Peutz-Jeghers syndrome. 16582077 2006
dbSNP: rs137853077
rs137853077
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease:
Peutz-Jeghers Syndrome
0.800 GeneticVariation CLINVAR LKB1 interacts with and phosphorylates PTEN: a functional link between two proteins involved in cancer predisposing syndromes. 15987703 2005
dbSNP: rs730881979
rs730881979
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 CausalMutation CLINVAR LKB1 is a master kinase that activates 13 kinases of the AMPK subfamily, including MARK/PAR-1. 14976552 2004
dbSNP: rs137853077
rs137853077
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease:
Peutz-Jeghers Syndrome
0.800 GeneticVariation CLINVAR Genotype-phenotype correlations in Peutz-Jeghers syndrome. 15121768 2004
dbSNP: rs121913315
rs121913315
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease:
Peutz-Jeghers Syndrome
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
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease:
Peutz-Jeghers Syndrome
0.800 CausalMutation CLINVAR Further observations on LKB1/STK11 status and cancer risk in Peutz-Jeghers syndrome. 12865922 2003
dbSNP: rs137853082
rs137853082
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease:
Peutz-Jeghers Syndrome
0.800 CausalMutation CLINVAR Mutation analysis of the STK11/LKB1 gene and clinical characteristics of an Australian series of Peutz-Jeghers syndrome patients. 12372054 2003
dbSNP: rs137853082
rs137853082
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease:
Peutz-Jeghers Syndrome
0.800 GeneticVariation CLINVAR Mutation analysis of the STK11/LKB1 gene and clinical characteristics of an Australian series of Peutz-Jeghers syndrome patients. 12372054 2003
dbSNP: rs137853082
rs137853082
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease:
Peutz-Jeghers Syndrome
0.800 GeneticVariation UNIPROT Mutation analysis of the STK11/LKB1 gene and clinical characteristics of an Australian series of Peutz-Jeghers syndrome patients. 12372054 2003
dbSNP: rs121913315
rs121913315
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0025202
Disease:
melanoma
0.800 GeneticVariation UNIPROT Somatic mutation of the Peutz-Jeghers syndrome gene, LKB1/STK11, in malignant melanoma. 10208439 1999
dbSNP: rs121913315
rs121913315
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease:
Peutz-Jeghers Syndrome
0.800 GeneticVariation UNIPROT Novel mutations in the LKB1/STK11 gene in Dutch Peutz-Jeghers families. 10408777 1999
dbSNP: rs121913315
rs121913315
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease:
Peutz-Jeghers Syndrome
0.800 CausalMutation CLINVAR Novel mutations in the LKB1/STK11 gene in Dutch Peutz-Jeghers families. 10408777 1999