Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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T | 0.710 | CausalMutation | CLINVAR | High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome. | 23335809 | 2013 |
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T | 0.710 | CausalMutation | CLINVAR | Mutations of the human PTEN gene. | 10923032 | 2000 |
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T | 0.710 | CausalMutation | CLINVAR | Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease. | 9259288 | 1997 |
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T | 0.710 | CausalMutation | CLINVAR | A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands. | 21194675 | 2011 |
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T | 0.700 | CausalMutation | CLINVAR | ||||||||||
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T | 0.700 | CausalMutation | CLINVAR | ||||||||||
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T | 0.700 | CausalMutation | CLINVAR | Predictive biomarkers of sensitivity to the phosphatidylinositol 3' kinase inhibitor GDC-0941 in breast cancer preclinical models. | 20453058 | 2010 |
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T | 0.700 | CausalMutation | CLINVAR | Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome. | 9140396 | 1997 |
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T | 0.700 | CausalMutation | CLINVAR | ||||||||||
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T | 0.700 | CausalMutation | CLINVAR | Enhanced sensitivity of PTEN-deficient tumors to inhibition of FRAP/mTOR. | 11504908 | 2001 |
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T | 0.700 | CausalMutation | CLINVAR | ||||||||||
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T | 0.700 | CausalMutation | CLINVAR | High frequency of mutations of the PIK3CA gene in human cancers. | 15016963 | 2004 |
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T | 0.700 | CausalMutation | CLINVAR | ||||||||||
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T | 0.700 | CausalMutation | CLINVAR | Mutation analysis of the PTEN / MMAC1 gene in Japanese patients with Cowden disease. | 10920277 | 2000 |
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T | 0.700 | CausalMutation | CLINVAR | ||||||||||
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T | 0.700 | CausalMutation | CLINVAR | ||||||||||
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T | 0.700 | CausalMutation | CLINVAR | ||||||||||
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T | 0.700 | CausalMutation | CLINVAR | Cognitive characteristics of PTEN hamartoma tumor syndromes. | 23470840 | 2013 |
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T | 0.700 | CausalMutation | CLINVAR | Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome. | 9140396 | 1997 |
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T | 0.700 | CausalMutation | CLINVAR | PTEN mutations and relationship to EGFR, ERBB2, KRAS, and TP53 mutations in non-small cell lung cancers. | 20018398 | 2010 |
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T | 0.700 | CausalMutation | CLINVAR | ||||||||||
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T | 0.700 | CausalMutation | CLINVAR | PIK3CA mutations predict local recurrences in rectal cancer patients. | 19903786 | 2009 |
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T | 0.700 | CausalMutation | CLINVAR | Effects of KRAS, BRAF, NRAS, and PIK3CA mutations on the efficacy of cetuximab plus chemotherapy in chemotherapy-refractory metastatic colorectal cancer: a retrospective consortium analysis. | 20619739 | 2010 |
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T | 0.700 | CausalMutation | CLINVAR | Chiari I malformation in a child with PTEN hamartoma tumor syndrome: Association or coincidence? | 28286253 | 2017 |
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T | 0.700 | CausalMutation | CLINVAR |