Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome
1.000 GeneticVariation BEFREE In this study, compound heterozygous variants of LKB1, c.890G > A/ c.1062C > G and del(exon1)/ c.1062C > G, were identified in two sporadic Chinese PJS cases respectively. 28185117

2018

Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome
1.000 Biomarker BEFREE Liver kinase B1 (LKB1) is mutationally inactivated in Peutz-Jeghers syndrome and in a variety of cancers including human papillomavirus (HPV)-caused cervical cancer. 27546620

2017

Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome
1.000 GeneticVariation BEFREE Clinical features, endoscopic polypectomy and STK11 gene mutation in a nine-month-old Peutz-Jeghers syndrome Chinese infant. 27004004

2017

Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome
1.000 GeneticVariation CLINVAR Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 28492532

2017

Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome
1.000 CausalMutation CLINVAR Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 28492532

2017

Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome
1.000 GeneticVariation BEFREE Sanger sequencing in exonic regions of STK11 gene uncovers a novel de-novo germline mutation (c.962_963delCC) associated with Peutz-Jeghers syndrome and elevated cancer risk: case report of a Chinese patient. 29141581

2017

Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome
1.000 GeneticVariation BEFREE A 23-Nucleotide Deletion in STK11 Gene Causes Peutz-Jeghers Syndrome and Malignancy in a Chinese Patient Without a Positive Family History. 28986664

2017

Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome
1.000 GeneticVariation BEFREE No deletion of band 19p13.3 was detected; therefore, the patient was not at an increased risk of tumors from the Peutz-Jeghers syndrome associated with a deletion of the STK11 gene. 27894106

2017

Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome
1.000 CausalMutation CLINVAR Disease pattern in Danish patients with Peutz-Jeghers syndrome. 26979979

2017

Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome
1.000 Biomarker BEFREE Energy sensing and cancer: LKB1 function and lessons learnt from Peutz-Jeghers syndrome. 26877140

2017

Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome
1.000 GeneticVariation BEFREE Peutz-Jeghers syndrome (PJS) is caused by the germline mutations in serine/threonine kinase 11 (STK11) gene. 27467201

2017

Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome
1.000 GeneticVariation BEFREE A novel mutation in the STK11 gene causes heritable Peutz-Jeghers syndrome - a case report. 28231849

2017

Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome
1.000 GeneticVariation BEFREE A novel germline mutation (c.A527G) in STK11 gene causes Peutz-Jeghers syndrome in a Chinese girl: A case report. 29245219

2017

Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome
1.000 CausalMutation CLINVAR One PJS patient did not have any STK11 mutations. 26607058

2016

Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome
1.000 GeneticVariation BEFREE We optimized and validated an IHC assay for LKB1 (clone Ley37D/G6) using a panel of lung cancer cell lines and tumors with known LKB1 mutations, including 2 patients with Peutz-Jeghers syndrome (PJS) who developed lung adenocarcinoma. 25737507

2016

Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome
1.000 GeneticVariation BEFREE The tumor suppressor serine-threonine kinase LKB1 is mutated in Peutz-Jeghers syndrome and in a spectrum of epithelial cancers whose etiology suggests a cooperation with environmental insults. 25329316

2016

Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome
1.000 GeneticVariation BEFREE Limited research on PJS has found that truncating mutations of the serine/threonine kinase 11 (STK11) gene may correlate with early symptoms and a greater number of polyps. 26225618

2016

Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome
1.000 GeneticVariation BEFREE Specific Alu elements involved in a significant percentage of copy number variations of the STK11 gene in patients with Peutz-Jeghers syndrome. 25841653

2016

Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome
1.000 Biomarker CTD_human Methylisoindigo preferentially kills cancer stem cells by interfering cell metabolism via inhibition of LKB1 and activation of AMPK in PDACs. 26887594

2016

Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome
1.000 CausalMutation CLINVAR Clinical characteristics and STK11 gene mutations in Chinese children with Peutz-Jeghers syndrome. 26607058

2016

Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome
1.000 GeneticVariation BEFREE First report of somatic mosaicism for mutations in STK11 in four patients with Peutz-Jeghers syndrome. 26386697

2016

Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome
1.000 GeneticVariation BEFREE Clinical characteristics and STK11 gene mutations in Chinese children with Peutz-Jeghers syndrome. 26607058

2016

Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome
1.000 CausalMutation CLINVAR The polyps caused significant clinical consequences in children with PJS, and mutations of the STK11 gene are generally the cause of PJS in Chinese children. 26607058

2016

Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome
1.000 GeneticVariation BEFREE Polycystic ovary syndrome (PCOS) with melanocytic mucosal macules: the role of STK11 gene polymorphisms in PCOS and Peutz-Jeghers syndrome. 26147831

2016

Entrez Id: 6794
Gene Symbol: STK11
STK11
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome
1.000 GeneticVariation BEFREE In summary, we present two elderly patients with thyroid carcinoma harboring STK11 mutation without clinical manifestation of PJS. 26662608

2016