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: rs1131690940
rs1131690940
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease:
Peutz-Jeghers Syndrome 		T 0.710 CausalMutation CLINVAR Clinical characteristics and STK11 gene mutations in Chinese children with Peutz-Jeghers syndrome. 26607058 2015
dbSNP: rs1131690940
rs1131690940
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease:
Peutz-Jeghers Syndrome 		T 0.710 CausalMutation CLINVAR Novel serine/threonine kinase 11 gene mutations in Peutz-Jeghers syndrome patients and endoscopic management. 23515270 2013
dbSNP: rs1131690940
rs1131690940
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease:
Peutz-Jeghers Syndrome 		T 0.710 CausalMutation CLINVAR Cancer risk associated with STK11/LKB1 germline mutations in Peutz-Jeghers syndrome patients: results of an Italian multicenter study. 23415580 2013
dbSNP: rs1131690940
rs1131690940
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease:
Peutz-Jeghers Syndrome 		T 0.710 CausalMutation CLINVAR Spectrum of LKB1, EGFR, and KRAS mutations in chinese lung adenocarcinomas. 20559149 2010
dbSNP: rs1131690940
rs1131690940
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease:
Peutz-Jeghers Syndrome 		T 0.710 CausalMutation CLINVAR An updated mutation spectrum in an Australian series of PJS patients provides further evidence for only one gene locus. 17026623 2006
dbSNP: rs1131690940
rs1131690940
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease:
Peutz-Jeghers Syndrome 		T 0.710 CausalMutation CLINVAR High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome. 16287113 2005
dbSNP: rs1131690940
rs1131690940
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease:
Peutz-Jeghers Syndrome 		0.710 GeneticVariation BEFREE We present four novel inactivating mutations identified by direct sequencing of all 9 exons of the STK11 gene in 4 patients suggestive of Peutz-Jeghers syndrome: three frameshift mutations (125-137del; 474-480del; 516-517insT) and one nonsense mutation (Q220X). 10090485 1999
dbSNP: rs1131690940
rs1131690940
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease:
Peutz-Jeghers Syndrome 		T 0.710 CausalMutation CLINVAR Mutations and impaired function of LKB1 in familial and non-familial Peutz-Jeghers syndrome and a sporadic testicular cancer. 9887330 1999
dbSNP: rs1131690940
rs1131690940
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease:
Peutz-Jeghers Syndrome 		T 0.710 CausalMutation CLINVAR Pathogenesis of adenocarcinoma in Peutz-Jeghers syndrome. 9850045 1998