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: rs1057517830
rs1057517830
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1057518830
rs1057518830
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C1257915
Disease:
Intestinal Polyposis 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1057518830
rs1057518830
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C1844606
Disease:
Periorbital hyperpigmentation 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs1057519858
rs1057519858
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma 		T 0.700 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
dbSNP: rs1057520017
rs1057520017
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0152013
Disease:
Adenocarcinoma of lung (disorder) 		T 0.700 GeneticVariation CLINVAR LKB1 modulates lung cancer differentiation and metastasis. 17676035 2007
dbSNP: rs1057520018
rs1057520018
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0700095
Disease:
Central neuroblastoma 		0.010 GeneticVariation BEFREE A heterozygous missense mutation in STK11 (F354L) was identified in both the NB and FVPTC. 25751324 2015
dbSNP: rs1057520018
rs1057520018
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0007137
Disease:
Squamous cell carcinoma 		0.010 GeneticVariation BEFREE R86G (novel) and F354L mutations were found in six squamous cell carcinomas and three large cell cancer carcinomas, but not in the adjacent healthy tissue or controls samples. 19229701 2009
dbSNP: rs1057520018
rs1057520018
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C3839868
Disease:
Cytogenetically normal acute myeloid leukemia 		0.010 GeneticVariation BEFREE Phe354Leu Polymorphism of <i>LKB1</i> Is a Potential Prognostic Factor for Cytogenetically Normal Acute Myeloid Leukemia. 28882949 2018
dbSNP: rs1057520018
rs1057520018
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0027819
Disease:
Neuroblastoma 		0.010 GeneticVariation BEFREE A heterozygous missense mutation in STK11 (F354L) was identified in both the NB and FVPTC. 25751324 2015
dbSNP: rs1057520018
rs1057520018
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0346398
Disease:
Mixed follicular and papillary thyroid carcinoma 		0.010 GeneticVariation BEFREE Identification of Unique, Heterozygous Germline Mutation, STK11 (p.F354L), in a Child with an Encapsulated Follicular Variant of Papillary Thyroid Carcinoma within Six Months of Completing Treatment for Neuroblastoma. 25751324 2015
dbSNP: rs1057520018
rs1057520018
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C4086165
Disease:
Childhood Neuroblastoma 		0.010 GeneticVariation BEFREE A heterozygous missense mutation in STK11 (F354L) was identified in both the NB and FVPTC. 25751324 2015
dbSNP: rs1057520038
rs1057520038
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease:
Peutz-Jeghers Syndrome 		A 0.700 GeneticVariation CLINVAR The germline mutation of LKB1 in the Peutz-Jeghers syndrome patients was identified as G215D by analyzing genomic DNA from normal lung tissue specimens. 21816872 2011
dbSNP: rs1057520038
rs1057520038
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0009402
Disease:
Colorectal Carcinoma 		0.700 GeneticVariation UNIPROT
dbSNP: rs1057520039
rs1057520039
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease:
Peutz-Jeghers Syndrome 		T 0.700 CausalMutation CLINVAR Mutations and impaired function of LKB1 in familial and non-familial Peutz-Jeghers syndrome and a sporadic testicular cancer. 9887330 1999
dbSNP: rs1057520039
rs1057520039
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0149782
Disease:
Squamous cell carcinoma of lung 		G 0.700 GeneticVariation CLINVAR LKB1 modulates lung cancer differentiation and metastasis. 17676035 2007
dbSNP: rs1057520039
rs1057520039
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease:
Peutz-Jeghers Syndrome 		T 0.700 CausalMutation CLINVAR Disease pattern in Danish patients with Peutz-Jeghers syndrome. 26979979 2016
dbSNP: rs1057520039
rs1057520039
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0007137
Disease:
Squamous cell carcinoma 		0.010 GeneticVariation BEFREE R86G (novel) and F354L mutations were found in six squamous cell carcinomas and three large cell cancer carcinomas, but not in the adjacent healthy tissue or controls samples. 19229701 2009
dbSNP: rs1057520039
rs1057520039
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0007097
Disease:
Carcinoma 		0.010 GeneticVariation BEFREE R86G (novel) and F354L mutations were found in six squamous cell carcinomas and three large cell cancer carcinomas, but not in the adjacent healthy tissue or controls samples. 19229701 2009
dbSNP: rs1057520040
rs1057520040
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease:
Peutz-Jeghers Syndrome 		G 0.700 GeneticVariation CLINVAR Germline mutations of the LKB1 (STK11) gene in Peutz-Jeghers patients. 10353780 1999
dbSNP: rs1057520041
rs1057520041
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease:
Peutz-Jeghers Syndrome 		A 0.710 GeneticVariation CLINVAR Recent work has led to the identification of four mutants (R304W, I177N, K175-D176del, L263fsX286) and two novel aberrant LKB1/STK11 cDNA isoforms (r291-464del, r485-1283del) in a group of PJS Italian patients. 12552571 2003
dbSNP: rs1057520041
rs1057520041
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease:
Peutz-Jeghers Syndrome 		0.710 GeneticVariation BEFREE Recent work has led to the identification of four mutants (R304W, I177N, K175-D176del, L263fsX286) and two novel aberrant LKB1/STK11 cDNA isoforms (r291-464del, r485-1283del) in a group of PJS Italian patients. 12552571 2003
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 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 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 Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. 15604628 2004