rs121913294
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
A
0.700
CausalMutation
CLINVAR
Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.
28475857
2017
rs121913294
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
A
0.700
CausalMutation
CLINVAR
KLLN epigenotype-phenotype associations in Cowden syndrome.
25669429
2015
rs121913294
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
A
0.700
GeneticVariation
CLINVAR
PIK3CA and PTEN gene and exon mutation-specific clinicopathologic and molecular associations in colorectal cancer.
23633456
2013
rs121913294
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
A
0.700
GeneticVariation
CLINVAR
High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome.
23335809
2013
rs121913294
×
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
rs121913294
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
A
0.700
GeneticVariation
CLINVAR
A comprehensive functional analysis of PTEN mutations: implications in tumor- and autism-related syndromes.
21828076
2011
rs121913294
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
A
0.700
GeneticVariation
CLINVAR
Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly.
20533527
2010
rs121913294
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
A
0.700
CausalMutation
CLINVAR
Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly.
20533527
2010
rs121913294
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
A
0.700
CausalMutation
CLINVAR
The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly.
19265751
2009
rs121913294
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
A
0.700
GeneticVariation
CLINVAR
The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly.
19265751
2009
rs121913294
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
A
0.700
GeneticVariation
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
rs121913294
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
A
0.700
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
rs121913294
×
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
rs121913294
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
A
0.700
GeneticVariation
CLINVAR
Functional evaluation of PTEN missense mutations using in vitro phosphoinositide phosphatase assay.
10866302
2000
rs121913294
×
Entrez Id:
5728
Gene Symbol:
PTEN
PTEN
PTEN Hamartoma Tumor Syndrome
A
0.700
GeneticVariation
CLINVAR
PTEN mutations in gliomas and glioneuronal tumors.
9619835
1998