×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
0.100
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
0.100
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
0.100
CausalMutation
disease
CLINVAR
Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.
28677221
2017
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
0.100
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
0.100
CausalMutation
disease
CLINVAR
Malignant peripheral nerve sheath tumor in cowden syndrome: a first report.
25756585
2015
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
0.100
CausalMutation
disease
CLINVAR
KLLN epigenotype-phenotype associations in Cowden syndrome.
25669429
2015
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
0.100
CausalMutation
disease
CLINVAR
Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations.
24778394
2014
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
0.100
GeneticVariation
disease
CLINVAR
Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations.
24375884
2014
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
0.100
CausalMutation
disease
CLINVAR
Cowden syndrome-related mutations in PTEN associate with enhanced proteasome activity.
23475934
2013
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
0.100
CausalMutation
disease
CLINVAR
Cognitive characteristics of PTEN hamartoma tumor syndromes.
23470840
2013
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
0.100
CausalMutation
disease
CLINVAR
Autoimmunity, intestinal lymphoid hyperplasia, and defects in mucosal B-cell homeostasis in patients with PTEN hamartoma tumor syndrome.
22266152
2012
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
0.100
GeneticVariation
disease
CLINVAR
Elevated plasma succinate in PTEN, SDHB, and SDHD mutation-positive individuals.
22261759
2012
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
0.100
GeneticVariation
disease
CLINVAR
Lifetime cancer risks in individuals with germline PTEN mutations.
22252256
2012
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
0.100
GeneticVariation
disease
CLINVAR
Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome.
22595938
2012
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
0.100
CausalMutation
disease
CLINVAR
PTEN hamartoma tumor syndrome and Gorham-Stout phenomenon.
22628360
2012
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
0.100
CausalMutation
disease
CLINVAR
Incidence and clinical characteristics of thyroid cancer in prospective series of individuals with Cowden and Cowden-like syndrome characterized by germline PTEN, SDH, or KLLN alterations.
21956414
2011
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
0.100
CausalMutation
disease
CLINVAR
Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features.
21659347
2011
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
0.100
GeneticVariation
disease
CLINVAR
A comprehensive functional analysis of PTEN mutations: implications in tumor- and autism-related syndromes.
21828076
2011
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
0.100
GeneticVariation
disease
CLINVAR
In vivo functional analysis of the counterbalance of hyperactive phosphatidylinositol 3-kinase p110 catalytic oncoproteins by the tumor suppressor PTEN.
17942903
2007
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
0.100
CausalMutation
disease
CLINVAR
Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers.
17526800
2007
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
0.100
CausalMutation
disease
CLINVAR
Analysis of PTEN gene mutations in Korean patients with Cowden syndrome and polyposis syndrome.
16007494
2005
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
0.100
GeneticVariation
disease
CLINVAR
Germline inactivation of PTEN and dysregulation of the phosphoinositol-3-kinase/Akt pathway cause human Lhermitte-Duclos disease in adults.
14566704
2003
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
0.100
CausalMutation
disease
CLINVAR
Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes.
11476841
2001
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
0.100
CausalMutation
disease
CLINVAR
Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis.
10749983
2000
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
0.100
CausalMutation
disease
CLINVAR
Phenotypic findings of Cowden syndrome and Bannayan-Zonana syndrome in a family associated with a single germline mutation in PTEN.
10353779
1999