Gene: PTEN ×
Source: CLINVAR ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.800 CausalMutation disease CLINVAR Variant discovery in patients with Mendelian vascular anomalies by next-generation sequencing and their use in patient clinical management. 28655553 2018
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.800 GeneticVariation disease CLINVAR A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships. 29706350 2018
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.800 CausalMutation disease CLINVAR Nuclear Excluded Autism-Associated Phosphatase and Tensin Homolog Mutations Dysregulate Neuronal Growth. 29373119 2018
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.800 GeneticVariation disease CLINVAR Multiplex assessment of protein variant abundance by massively parallel sequencing. 29785012 2018
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.800 CausalMutation disease CLINVAR Multiplex assessment of protein variant abundance by massively parallel sequencing. 29785012 2018
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.800 CausalMutation disease CLINVAR A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships. 29706350 2018
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.800 GeneticVariation disease CLINVAR A pathogenic role for germline PTEN variants which accumulate into the nucleus. 29706633 2018
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.800 GeneticVariation disease 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 		0.800 CausalMutation disease CLINVAR Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 28677221 2017
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.800 GeneticVariation disease 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 		0.800 GeneticVariation disease CLINVAR A retrospective chart review of the features of PTEN hamartoma tumour syndrome in children. 28526761 2017
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.800 CausalMutation disease CLINVAR Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability. 28475857 2017
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.800 GeneticVariation disease CLINVAR Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 28677221 2017
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.800 CausalMutation disease CLINVAR A retrospective chart review of the features of PTEN hamartoma tumour syndrome in children. 28526761 2017
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.800 CausalMutation disease CLINVAR Analysis of protein-coding genetic variation in 60,706 humans. 27535533 2016
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.800 GeneticVariation disease CLINVAR Increased PI3K/Akt activity and deregulated humoral immune response in human PTEN deficiency. 27531073 2016
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.800 CausalMutation disease 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 		0.800 GeneticVariation disease 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 		0.800 GeneticVariation disease CLINVAR Analysis of protein-coding genetic variation in 60,706 humans. 27535533 2016
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.800 GeneticVariation disease CLINVAR Cytoplasm-predominant Pten associates with increased region-specific brain tyrosine hydroxylase and dopamine D2 receptors in mouse model with autistic traits. 26579216 2015
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.800 CausalMutation disease CLINVAR Thyroid Pathology Findings in Cowden Syndrome: A Clue for the Diagnosis of the PTEN Hamartoma Tumor Syndrome. 26185318 2015
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.800 GeneticVariation disease CLINVAR KLLN epigenotype-phenotype associations in Cowden syndrome. 25669429 2015
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.800 CausalMutation disease CLINVAR Cowden's syndrome with immunodeficiency. 26246517 2015
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.800 GeneticVariation disease CLINVAR Cowden's syndrome with immunodeficiency. 26246517 2015
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.800 CausalMutation disease CLINVAR Cowden Syndrome and Concomitant Pulmonary Neuroendocrine Tumor: A Presentation of Two Cases. 26798346 2015