×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
Proteus-Like Syndrome (disorder)
0.740
Biomarker
BEFREE
CS is part of a larger syndrome called PTEN hamartomatous syndrome, which also includes Bannayan-Riley-Ruvalcaba syndrome, PTEN -related Proteus syndrome, and Proteus-like syndrome (Eng, 2014).
25158662
2014
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
Proteus-Like Syndrome (disorder)
0.740
GeneticVariation
BEFREE
Germline PTEN mutations have been found to occur in 80% of classic Cowden syndrome (CS), 60% of Bannayan-Riley-Ruvalcaba syndrome (BRRS), up to 20% of Proteus syndrome (PS), and approximately 50% of a Proteus-like syndrome (PSL ).
12938083
2003
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
Proteus-Like Syndrome (disorder)
0.740
Biomarker
BEFREE
PTEN gene (phosphatase and tensin homolog deleted on chromosome ten, MIM 601628) is a tumor suppressor gene implicated in PTEN hamartoma tumor syndromes (PHTS) including Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome and Proteus-like syndrome .
23124040
2013
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
Proteus-Like Syndrome (disorder)
0.740
Biomarker
BEFREE
PTEN gene (MIM 601628) is a tumor suppressor gene implicated in PTEN hamartoma tumor syndromes (PHTS) including Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, and Proteus-like syndrome .
25549896
2015
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
Proteus-Like Syndrome (disorder)
0.740
GeneticVariation
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
Proteus-Like Syndrome (disorder)
0.740
CausalMutation
CLINVAR
Analysis of PTEN gene mutations in Korean patients with Cowden syndrome and polyposis syndrome.
16007494
2005
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
Proteus-Like Syndrome (disorder)
0.740
CausalMutation
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
Proteus-Like Syndrome (disorder)
0.740
GeneticVariation
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
Proteus-Like Syndrome (disorder)
0.740
CausalMutation
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
Proteus-Like Syndrome (disorder)
0.740
CausalMutation
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
Proteus-Like Syndrome (disorder)
0.740
CausalMutation
CLINVAR
Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.
28677221
2017
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
Proteus-Like Syndrome (disorder)
0.740
GeneticVariation
CLINVAR
Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations.
24375884
2014
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
Proteus-Like Syndrome (disorder)
0.740
CausalMutation
CLINVAR
Malignant peripheral nerve sheath tumor in cowden syndrome: a first report.
25756585
2015
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
Proteus-Like Syndrome (disorder)
0.740
CausalMutation
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
Proteus-Like Syndrome (disorder)
0.740
CausalMutation
CLINVAR
Inherited mutations in PTEN that are associated with breast cancer, cowden disease, and juvenile polyposis.
9399897
1997
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
Proteus-Like Syndrome (disorder)
0.740
GeneticVariation
CLINVAR
A comprehensive functional analysis of PTEN mutations: implications in tumor- and autism-related syndromes.
21828076
2011
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
Proteus-Like Syndrome (disorder)
0.740
CausalMutation
CLINVAR
Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease.
9259288
1997
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
Proteus-Like Syndrome (disorder)
0.740
CausalMutation
CLINVAR
PTEN hamartoma tumor syndrome and Gorham-Stout phenomenon.
22628360
2012
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
Proteus-Like Syndrome (disorder)
0.740
GeneticVariation
CLINVAR
Elevated plasma succinate in PTEN, SDHB, and SDHD mutation-positive individuals.
22261759
2012
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
Proteus-Like Syndrome (disorder)
0.740
GeneticVariation
CLINVAR
Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome.
22595938
2012
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
Proteus-Like Syndrome (disorder)
0.740
CausalMutation
CLINVAR
KLLN epigenotype-phenotype associations in Cowden syndrome.
25669429
2015
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
Proteus-Like Syndrome (disorder)
0.740
CausalMutation
CLINVAR
Cowden syndrome-related mutations in PTEN associate with enhanced proteasome activity.
23475934
2013
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
Proteus-Like Syndrome (disorder)
0.740
GeneticVariation
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
Proteus-Like Syndrome (disorder)
0.740
CausalMutation
CLINVAR
Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.
28475857
2017
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
Proteus-Like Syndrome (disorder)
0.740
CausalMutation
CLINVAR
Cognitive characteristics of PTEN hamartoma tumor syndromes.
23470840
2013