Gene: PTEN ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.160 CausalMutation group CLINVAR A longitudinally extensive myelopathy associated with multiple spinal arteriovenous fistulas in a patient with Cowden syndrome: a case report. 26795104 2018
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.160 CausalMutation group CLINVAR Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells. 27477328 2017
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.160 CausalMutation group CLINVAR Chiari I malformation in a child with PTEN hamartoma tumor syndrome: Association or coincidence? 28286253 2017
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.160 CausalMutation group CLINVAR Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 28677221 2017
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.160 CausalMutation group CLINVAR A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly. 28086757 2017
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.160 CausalMutation group CLINVAR A retrospective chart review of the features of PTEN hamartoma tumour syndrome in children. 28526761 2017
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.160 CausalMutation group CLINVAR De Novo PTEN Mutation in a Young Boy with Cutaneous Vasculitis. 28523199 2017
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.160 CausalMutation group CLINVAR Identification of mutations in the PI3K-AKT-mTOR signalling pathway in patients with macrocephaly and developmental delay and/or autism. 29296277 2017
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.160 GeneticVariation group CLINVAR Analysis of protein-coding genetic variation in 60,706 humans. 27535533 2016
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.160 CausalMutation group CLINVAR Incidental germline variants in 1000 advanced cancers on a prospective somatic genomic profiling protocol. 26787237 2016
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.160 CausalMutation group CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312 2016
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.160 CausalMutation group CLINVAR Tailor-Made Protein Tyrosine Phosphatases: In Vitro Site-Directed Mutagenesis of PTEN and PTPRZ-B. 27514801 2016
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.160 CausalMutation group CLINVAR TumorNext: A comprehensive tumor profiling assay that incorporates high resolution copy number analysis and germline status to improve testing accuracy. 27626691 2016
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.160 GeneticVariation group CLINVAR Characterisation of the Phosphatidylinositol 3-Kinase Pathway in Non-Small Cell Lung Cancer Cells Isolated from Pleural Effusions. 27082424 2016
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.160 GeneticVariation group CLINVAR Cowden's syndrome with immunodeficiency. 26246517 2015
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.160 CausalMutation group CLINVAR Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes. 25527629 2015
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.160 GeneticVariation group CLINVAR Premalignant alterations in breast and endometrium associated with a PTEN mutation in a woman with Cowden syndrome: implications for preventive care. 26076150 2015
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.160 Biomarker group BEFREE PTEN is a tumor suppressor associated with an inherited cancer syndrome and an important regulator of ongoing neural connectivity and plasticity. 25288137 2015
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.160 GeneticVariation group CLINVAR A global reference for human genetic variation. 26432245 2015
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.160 GeneticVariation group CLINVAR KLLN epigenotype-phenotype associations in Cowden syndrome. 25669429 2015
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.160 CausalMutation group CLINVAR Cowden's syndrome with immunodeficiency. 26246517 2015
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.160 CausalMutation group CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.160 CausalMutation group CLINVAR Molecular and phenotypic abnormalities in individuals with germline heterozygous PTEN mutations and autism. 25288137 2015
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.160 GeneticVariation group CLINVAR PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia. 25722288 2015
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.160 GeneticVariation group CLINVAR Molecular and phenotypic abnormalities in individuals with germline heterozygous PTEN mutations and autism. 25288137 2015