Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.710 | CausalMutation | CLINVAR | Clinical characteristics and STK11 gene mutations in Chinese children with Peutz-Jeghers syndrome. | 26607058 | 2015 |
|||
|
T | 0.710 | CausalMutation | CLINVAR | Novel serine/threonine kinase 11 gene mutations in Peutz-Jeghers syndrome patients and endoscopic management. | 23515270 | 2013 |
|||
|
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 |
|||
|
T | 0.710 | CausalMutation | CLINVAR | Spectrum of LKB1, EGFR, and KRAS mutations in chinese lung adenocarcinomas. | 20559149 | 2010 |
|||
|
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 |
|||
|
T | 0.710 | CausalMutation | CLINVAR | High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome. | 16287113 | 2005 |
|||
|
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 |
||||
|
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 |
|||
|
T | 0.710 | CausalMutation | CLINVAR | Pathogenesis of adenocarcinoma in Peutz-Jeghers syndrome. | 9850045 | 1998 |