STK11, serine/threonine kinase 11, 6794

N. diseases: 372; N. variants: 145
Disease: Peutz-Jeghers Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057520042
rs1057520042
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease:
Peutz-Jeghers Syndrome 		0.800 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360 2017
dbSNP: rs1057520042
rs1057520042
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: rs1057520042
rs1057520042
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: rs1057520042
rs1057520042
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: 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: 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: 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: rs1057520042
rs1057520042
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease:
Peutz-Jeghers Syndrome 		0.800 GeneticVariation UNIPROT Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. 15604628 2004
dbSNP: rs1057520042
rs1057520042
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 2002
dbSNP: rs1057520042
rs1057520042
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: rs1057520042
rs1057520042
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease:
Peutz-Jeghers Syndrome 		C 0.800 GeneticVariation CLINVAR Loss of LKB1 kinase activity in Peutz-Jeghers syndrome, and evidence for allelic and locus heterogeneity. 9837816 1998
dbSNP: rs1057520042
rs1057520042
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease:
Peutz-Jeghers Syndrome 		0.800 GeneticVariation UNIPROT Nine novel germline mutations of STK11 in ten families with Peutz-Jeghers syndrome. 9760200 1998
dbSNP: rs1057520042
rs1057520042
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease:
Peutz-Jeghers Syndrome 		0.800 GeneticVariation UNIPROT A serine/threonine kinase gene defective in Peutz-Jeghers syndrome. 9428765 1998
dbSNP: rs1057520042
rs1057520042
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease:
Peutz-Jeghers Syndrome 		0.800 GeneticVariation UNIPROT Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase. 9425897 1998
dbSNP: rs1057520042
rs1057520042
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease:
Peutz-Jeghers Syndrome 		0.800 GeneticVariation UNIPROT Loss of LKB1 kinase activity in Peutz-Jeghers syndrome, and evidence for allelic and locus heterogeneity. 9837816 1998