rs121909229
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
A
0.700
CausalMutation
CLINVAR
Cowden Syndrome and Concomitant Pulmonary Neuroendocrine Tumor: A Presentation of Two Cases.
26798346
2015
rs121909229
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
A
0.700
CausalMutation
CLINVAR
Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes.
25527629
2015
rs121909229
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
A
0.700
CausalMutation
CLINVAR
Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations.
24778394
2014
rs121909229
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
A
0.700
CausalMutation
CLINVAR
High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome.
23335809
2013
rs121909229
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
A
0.700
CausalMutation
CLINVAR
Cognitive characteristics of PTEN hamartoma tumor syndromes.
23470840
2013
rs121909229
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
A
0.700
CausalMutation
CLINVAR
Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps.
23399955
2013
rs121909229
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
A
0.700
CausalMutation
CLINVAR
Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome.
22595938
2012
rs121909229
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
A
0.700
CausalMutation
CLINVAR
Cortical dysplasia associated with the PTEN mutation in Bannayan Riley Ruvalcaba syndrome: a rare finding.
22327138
2012
rs121909229
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
A
0.700
CausalMutation
CLINVAR
Autoimmunity, intestinal lymphoid hyperplasia, and defects in mucosal B-cell homeostasis in patients with PTEN hamartoma tumor syndrome.
22266152
2012
rs121909229
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
A
0.700
CausalMutation
CLINVAR
Acinic cell carcinoma of the retromolar trigone region: expanding the tumor phenotype in Cowden syndrome?
21822720
2011
rs121909229
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
A
0.700
CausalMutation
CLINVAR
A comprehensive functional analysis of PTEN mutations: implications in tumor- and autism-related syndromes.
21828076
2011
rs121909229
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
A
0.700
CausalMutation
CLINVAR
Germline and somatic cancer-associated mutations in the ATP-binding motifs of PTEN influence its subcellular localization and tumor suppressive function.
19457929
2009
rs121909229
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
A
0.700
CausalMutation
CLINVAR
The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management.
17526801
2007
rs121909229
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
A
0.700
CausalMutation
CLINVAR
In vivo functional analysis of the counterbalance of hyperactive phosphatidylinositol 3-kinase p110 catalytic oncoproteins by the tumor suppressor PTEN.
17942903
2007
rs121909229
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
A
0.700
CausalMutation
CLINVAR
Protean PTEN: form and function.
11875759
2002
rs121909229
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
A
0.700
CausalMutation
CLINVAR
Functional evaluation of PTEN missense mutations using in vitro phosphoinositide phosphatase assay.
10866302
2000
rs121909229
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
A
0.700
CausalMutation
CLINVAR
Variant manifestation of Cowden disease in Japan: hamartomatous polyposis of the digestive tract with mutation of the PTEN gene.
9915974
1999
rs121909229
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
A
0.700
CausalMutation
CLINVAR
Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation.
9467011
1998