Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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T | 0.700 | GeneticVariation | CLINVAR | Germline inactivation of PTEN and dysregulation of the phosphoinositol-3-kinase/Akt pathway cause human Lhermitte-Duclos disease in adults. | 14566704 | 2003 |
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T | 0.700 | GeneticVariation | CLINVAR | Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells. | 27477328 | 2017 |
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T | 0.700 | GeneticVariation | CLINVAR | A comprehensive functional analysis of PTEN mutations: implications in tumor- and autism-related syndromes. | 21828076 | 2011 |
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T | 0.700 | GeneticVariation | CLINVAR | Elevated plasma succinate in PTEN, SDHB, and SDHD mutation-positive individuals. | 22261759 | 2012 |
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|
T | 0.700 | CausalMutation | CLINVAR | ||||||
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T | 0.700 | GeneticVariation | CLINVAR | In vivo functional analysis of the counterbalance of hyperactive phosphatidylinositol 3-kinase p110 catalytic oncoproteins by the tumor suppressor PTEN. | 17942903 | 2007 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations. | 24375884 | 2014 |
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T | 0.700 | GeneticVariation | CLINVAR | Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. | 26681312 | 2016 |
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T | 0.700 | GeneticVariation | CLINVAR | PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. | 10400993 | 1999 |