STK11, serine/threonine kinase 11, 6794

N. diseases: 372; N. variants: 145
Disease: Peutz-Jeghers Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		1.000 CausalMutation disease CLINVAR Peutz-Jeghers syndrome: confirmation of linkage to chromosome 19p13.3 and identification of a potential second locus, on 19q13.4. 9399902 1997
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		1.000 Biomarker disease CLINGEN Fine mapping of a genetic locus for Peutz-Jeghers syndrome on chromosome 19p. 9288765 1997
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		1.000 GeneticVariation disease BEFREE Analysis of hamartomas and adenocarcinomas from patients with PJS identified loss of heterozygosity (LOH) of 19p markers near STK11 in 70% of tumors. 9850045 1998
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		1.000 CausalMutation disease CLINVAR In this study, we screened for LKB1 mutations in nine PJS families of American, Spanish, Portuguese, French, Turkish, and Indian origin and detected seven novel mutations. 9837816 1998
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		1.000 CausalMutation disease CLINVAR STK11 mutations in Peutz-Jeghers syndrome and sporadic colon cancer. 9809980 1998
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		1.000 Biomarker disease BEFREE Our data indicate the heterogeneity of PJS and the infrequent involvement of the STK11 gene in colorectal cancer. 9809980 1998
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		1.000 GeneticVariation disease BEFREE We investigated the entire coding region of STK11 in 15 unrelated PJS families by the PCR-SSCP (polymerase chain reaction-single strand conformation polymorphism) method and PCR-direct sequence analysis, and found nine different, novel mutations among ten of those families. 9760200 1998
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		1.000 GeneticVariation disease BEFREE This observation and a previous observation that the LKB1 locus is often deleted in PJS polyps suggest that the gene may function as a tumor suppressor. 9605748 1998
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		1.000 GeneticVariation disease UNIPROT A serine/threonine kinase gene defective in Peutz-Jeghers syndrome. 9428765 1998
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		1.000 GermlineCausalMutation disease ORPHANET In this study, we screened for LKB1 mutations in nine PJS families of American, Spanish, Portuguese, French, Turkish, and Indian origin and detected seven novel mutations. 9837816 1998
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		1.000 GeneticVariation disease BEFREE In this study, we screened for LKB1 mutations in nine PJS families of American, Spanish, Portuguese, French, Turkish, and Indian origin and detected seven novel mutations. 9837816 1998
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		1.000 GeneticVariation disease BEFREE We analyzed somatic mutation and loss of heterozygosity (LOH) in the serine/threonine kinase 11 (STK11)/Peutz-Jeghers syndrome gene in 49 colorectal tumors in three different stages of a dysplasia-carcinoma sequence. 9731485 1998
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		1.000 GeneticVariation disease BEFREE Germline mutations of the PTEN/MMAC1/TEP and LKB1 genes cause hamartomas to develop in the gastrointestinal tracts of patients with Cowden syndrome and Peutz-Jeghers syndrome, respectively. 9708796 1998
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		1.000 Biomarker disease CLINGEN Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase. 9425897 1998
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		1.000 CausalMutation disease CLINVAR We investigated the entire coding region of STK11 in 15 unrelated PJS families by the PCR-SSCP (polymerase chain reaction-single strand conformation polymorphism) method and PCR-direct sequence analysis, and found nine different, novel mutations among ten of those families. 9760200 1998
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		1.000 GeneticVariation disease UNIPROT Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase. 9425897 1998
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		1.000 GeneticVariation disease CLINVAR A serine/threonine kinase gene defective in Peutz-Jeghers syndrome. 9428765 1998
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		1.000 GeneticVariation disease UNIPROT We investigated the entire coding region of STK11 in 15 unrelated PJS families by the PCR-SSCP (polymerase chain reaction-single strand conformation polymorphism) method and PCR-direct sequence analysis, and found nine different, novel mutations among ten of those families. 9760200 1998
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		1.000 CausalMutation disease CLINVAR A serine/threonine kinase gene defective in Peutz-Jeghers syndrome. 9428765 1998
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		1.000 GeneticVariation disease UNIPROT In this study, we screened for LKB1 mutations in nine PJS families of American, Spanish, Portuguese, French, Turkish, and Indian origin and detected seven novel mutations. 9837816 1998
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase. 9425897 1998
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		1.000 GeneticVariation disease BEFREE Low frequency of somatic mutations in the LKB1/Peutz-Jeghers syndrome gene in sporadic breast cancer. 9537235 1998
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		1.000 CausalMutation disease CLINVAR Pathogenesis of adenocarcinoma in Peutz-Jeghers syndrome. 9850045 1998
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		1.000 GeneticVariation disease CLINVAR In this study, we screened for LKB1 mutations in nine PJS families of American, Spanish, Portuguese, French, Turkish, and Indian origin and detected seven novel mutations. 9837816 1998