PTEN, phosphatase and tensin homolog, 5728

N. diseases: 107; N. variants: 343
Disease: Hamartoma Syndrome, Multiple ×
Source: CLINVAR ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		1.000 CausalMutation disease CLINVAR A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships. 29706350 2018
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		1.000 CausalMutation disease CLINVAR Multiplex assessment of protein variant abundance by massively parallel sequencing. 29785012 2018
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		1.000 CausalMutation disease CLINVAR Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome. 28677221 2017
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		1.000 CausalMutation disease CLINVAR Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells. 27477328 2017
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		1.000 CausalMutation disease CLINVAR Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability. 28475857 2017
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		1.000 GeneticVariation disease CLINVAR Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells. 27477328 2017
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		1.000 CausalMutation disease CLINVAR Fibroblastic Polyps: A Novel Polyp Subtype in Cowden Syndrome. 29043291 2017
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		1.000 GeneticVariation disease CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312 2016
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		1.000 CausalMutation disease CLINVAR Kinases, tails and more: regulation of PTEN function by phosphorylation. 25448482 2015
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		1.000 CausalMutation disease CLINVAR KLLN epigenotype-phenotype associations in Cowden syndrome. 25669429 2015
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		1.000 CausalMutation disease CLINVAR Malignant peripheral nerve sheath tumor in cowden syndrome: a first report. 25756585 2015
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		1.000 CausalMutation disease CLINVAR Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes. 25527629 2015
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		1.000 GeneticVariation disease CLINVAR KLLN epigenotype-phenotype associations in Cowden syndrome. 25669429 2015
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		1.000 GeneticVariation disease CLINVAR Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations. 24375884 2014
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		1.000 GeneticVariation disease CLINVAR A novel deleterious PTEN mutation in a patient with early-onset bilateral breast cancer. 24498881 2014
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		1.000 CausalMutation disease CLINVAR Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations. 24778394 2014
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		1.000 CausalMutation disease CLINVAR PTEN. 24905788 2014
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		1.000 CausalMutation disease CLINVAR Posttranslational regulation of phosphatase and tensin homolog (PTEN) and its functional impact on cancer behaviors. 25336918 2014
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		1.000 GeneticVariation disease CLINVAR Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations. 24778394 2014
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		1.000 CausalMutation disease CLINVAR When overgrowth bumps into cancer: the PTEN-opathies. 23613428 2013
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		1.000 CausalMutation disease CLINVAR Differential expression of PTEN gene correlates with phenotypic heterogeneity in three cases of patients showing clinical manifestations of PTEN hamartoma tumour syndrome. 23886400 2013
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		1.000 GeneticVariation disease CLINVAR High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome. 23335809 2013
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		1.000 CausalMutation disease CLINVAR Cowden syndrome-related mutations in PTEN associate with enhanced proteasome activity. 23475934 2013
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		1.000 CausalMutation disease CLINVAR Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps. 23399955 2013
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		1.000 CausalMutation disease CLINVAR Cognitive characteristics of PTEN hamartoma tumor syndromes. 23470840 2013