Source: CLINVAR ×
Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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T | 0.700 | CausalMutation | CLINVAR | Malignant peripheral nerve sheath tumor in cowden syndrome: a first report. | 25756585 | 2015 |
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T | 0.700 | CausalMutation | CLINVAR | Cowden syndrome-related mutations in PTEN associate with enhanced proteasome activity. | 23475934 | 2013 |
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T | 0.700 | CausalMutation | CLINVAR | Incidence and clinical characteristics of thyroid cancer in prospective series of individuals with Cowden and Cowden-like syndrome characterized by germline PTEN, SDH, or KLLN alterations. | 21956414 | 2011 |
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T | 0.700 | CausalMutation | CLINVAR | Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis. | 10749983 | 2000 |
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T | 0.700 | CausalMutation | CLINVAR | The tumor-suppressor activity of PTEN is regulated by its carboxyl-terminal region. | 10468583 | 1999 |
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T | 0.700 | CausalMutation | CLINVAR | Phenotypic findings of Cowden syndrome and Bannayan-Zonana syndrome in a family associated with a single germline mutation in PTEN. | 10353779 | 1999 |
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T | 0.700 | CausalMutation | CLINVAR | Inherited mutations in PTEN that are associated with breast cancer, cowden disease, and juvenile polyposis. | 9399897 | 1997 |