Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
Peutz-Jeghers Syndrome
|
0.800 | GeneticVariation | UNIPROT | Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. | 27854360 | 2017 | |||||
Peutz-Jeghers Syndrome
|
0.800 | GeneticVariation | UNIPROT | ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. | 25645574 | 2015 | |||||
Peutz-Jeghers Syndrome
|
0.800 | GeneticVariation | UNIPROT | A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. | 25394175 | 2015 | |||||
Peutz-Jeghers Syndrome
|
0.800 | GeneticVariation | UNIPROT | ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. | 25356965 | 2015 | |||||
Peutz-Jeghers Syndrome
|
0.800 | GeneticVariation | UNIPROT | ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. | 23788249 | 2013 | |||||
Peutz-Jeghers Syndrome
|
0.800 | GeneticVariation | UNIPROT | A novel de novo mutation in LKB1 gene in a Chinese Peutz Jeghers syndrome patient significantly diminished p53 activity. | 21411391 | 2011 | |||||
Peutz-Jeghers Syndrome
|
0.800 | GeneticVariation | UNIPROT | LKB1 interacts with and phosphorylates PTEN: a functional link between two proteins involved in cancer predisposing syndromes. | 15987703 | 2005 | |||||
Peutz-Jeghers Syndrome
|
0.800 | GeneticVariation | UNIPROT | Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. | 15604628 | 2004 | |||||
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 | |||||
Peutz-Jeghers Syndrome
|
0.800 | GeneticVariation | UNIPROT | Novel mutations in the LKB1/STK11 gene in Dutch Peutz-Jeghers families. | 10408777 | 1999 | |||||
Peutz-Jeghers Syndrome
|
0.800 | GeneticVariation | CLINVAR | Loss of LKB1 kinase activity in Peutz-Jeghers syndrome, and evidence for allelic and locus heterogeneity. | 9837816 | 1998 | |||||
Peutz-Jeghers Syndrome
|
0.800 | GeneticVariation | UNIPROT | Nine novel germline mutations of STK11 in ten families with Peutz-Jeghers syndrome. | 9760200 | 1998 | |||||
Peutz-Jeghers Syndrome
|
0.800 | GeneticVariation | UNIPROT | A serine/threonine kinase gene defective in Peutz-Jeghers syndrome. | 9428765 | 1998 | |||||
Peutz-Jeghers Syndrome
|
0.800 | GeneticVariation | UNIPROT | Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase. | 9425897 | 1998 | |||||
Peutz-Jeghers Syndrome
|
0.800 | GeneticVariation | UNIPROT | Loss of LKB1 kinase activity in Peutz-Jeghers syndrome, and evidence for allelic and locus heterogeneity. | 9837816 | 1998 |