rs587782350
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
Lhermitte-Duclos disease
T
0.700
GeneticVariation
CLINVAR
Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells.
27477328
2017
rs587782350
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
Lhermitte-Duclos disease
T
0.700
GeneticVariation
CLINVAR
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
26681312
2016
rs587782350
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
Lhermitte-Duclos disease
T
0.700
GeneticVariation
CLINVAR
Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations.
24375884
2014
rs587782350
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
Lhermitte-Duclos disease
T
0.700
GeneticVariation
CLINVAR
Elevated plasma succinate in PTEN, SDHB, and SDHD mutation-positive individuals.
22261759
2012
rs587782350
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
Lhermitte-Duclos disease
T
0.700
GeneticVariation
CLINVAR
A comprehensive functional analysis of PTEN mutations: implications in tumor- and autism-related syndromes.
21828076
2011
rs587782350
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
Lhermitte-Duclos disease
T
0.700
GeneticVariation
CLINVAR
In vivo functional analysis of the counterbalance of hyperactive phosphatidylinositol 3-kinase p110 catalytic oncoproteins by the tumor suppressor PTEN.
17942903
2007
rs587782350
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
Lhermitte-Duclos disease
T
0.700
GeneticVariation
CLINVAR
Germline inactivation of PTEN and dysregulation of the phosphoinositol-3-kinase/Akt pathway cause human Lhermitte-Duclos disease in adults.
14566704
2003
rs587782350
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
Lhermitte-Duclos disease
T
0.700
GeneticVariation
CLINVAR
PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome.
10400993
1999
rs587782350
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
Lhermitte-Duclos disease
T
0.700
CausalMutation
CLINVAR