| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
C | 0.700 | CausalMutation | CLINVAR | Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations. | 24778394 | 2014 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome. | 23335809 | 2013 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | Cowden syndrome-related mutations in PTEN associate with enhanced proteasome activity. | 23475934 | 2013 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | Clinicopathologic and molecular analysis of a choroidal pigmented schwannoma in the context of a PTEN hamartoma tumor syndrome. | 22281088 | 2012 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | "Beta catenin and cytokine pathway dysregulation in patients with manifestations of the ""PTEN hamartoma tumor syndrome""." | 22520842 | 2012 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features. | 21659347 | 2011 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | Analysis of prevalence and degree of macrocephaly in patients with germline PTEN mutations and of brain weight in Pten knock-in murine model. | 21343951 | 2011 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | Frequent gastrointestinal polyps and colorectal adenocarcinomas in a prospective series of PTEN mutation carriers. | 20600018 | 2010 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | Association of multiple vertebral hemangiomas and severe paraparesis in a patient with a PTEN hamartoma tumor syndrome. Case report. | 17941496 | 2007 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | A novel PTEN mutation in a Japanese patient with Cowden disease. | 10848731 | 2000 |