×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
0.610
Biomarker
disease
GENOMICS_ENGLAND
Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly.
17286265
2007
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
0.610
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
0.610
Biomarker
disease
GENOMICS_ENGLAND
Multiple hamartoma syndrome (Cowden's disease).
4635800
1972
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
0.610
Biomarker
disease
GENOMICS_ENGLAND
A novel germline mutation of the PTEN gene in a patient with macrocephaly, ventricular dilatation, and features of VATER association.
11748304
2001
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
0.610
Biomarker
disease
GENOMICS_ENGLAND
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
0.610
Biomarker
disease
CTD_human
A novel germline mutation of the PTEN gene in a patient with macrocephaly, ventricular dilatation, and features of VATER association.
11748304
2001
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
0.610
Biomarker
disease
BEFREE
The clinical findings were consistent with the diagnosis of VACTERL-H . Molecular analysis of PTEN , FANCB, and HOXD13 genes revealed no mutation.
24411047
2013
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
0.610
GeneticVariation
disease
CLINVAR
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
0.610
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
0.610
CausalMutation
disease
CLINVAR
PTEN hamartoma tumor syndrome and Gorham-Stout phenomenon.
22628360
2012
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
0.610
CausalMutation
disease
CLINVAR
KLLN epigenotype-phenotype associations in Cowden syndrome.
25669429
2015
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
0.610
CausalMutation
disease
CLINVAR
Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations.
24778394
2014