×
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
MACROCEPHALY/AUTISM SYNDROME
0.910
GeneticVariation
BEFREE
Heterozygous mutations in PTEN , which encodes a negative regulator of the mTOR and β-catenin signaling pathways, cause macrocephaly/autism syndrome .
31441226 2019
×
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
MACROCEPHALY/AUTISM SYNDROME
0.910
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
MACROCEPHALY/AUTISM SYNDROME
0.910
CausalMutation
CLINVAR
A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly.
28086757 2017
×
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
MACROCEPHALY/AUTISM SYNDROME
0.910
CausalMutation
CLINVAR
Molecular diagnostic experience of whole-exome sequencing in adult patients.
26633545 2016
×
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
MACROCEPHALY/AUTISM SYNDROME
0.910
CausalMutation
CLINVAR
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
25525159 2015
×
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
MACROCEPHALY/AUTISM SYNDROME
0.910
CausalMutation
CLINVAR
KLLN epigenotype-phenotype associations in Cowden syndrome.
25669429 2015
×
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
MACROCEPHALY/AUTISM SYNDROME
0.910
GeneticVariation
UNIPROT
Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms.
26637798 2015
×
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
MACROCEPHALY/AUTISM SYNDROME
0.910
CausalMutation
CLINVAR
Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations.
24778394 2014
×
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
MACROCEPHALY/AUTISM SYNDROME
0.910
Biomarker
MGD
Germline disruption of Pten localization causes enhanced sex-dependent social motivation and increased glial production.
24470394 2014
×
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
MACROCEPHALY/AUTISM SYNDROME
0.910
CausalMutation
CLINVAR
Biochemical screening and PTEN mutation analysis in individuals with autism spectrum disorders and macrocephaly.
23695273 2014
×
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
MACROCEPHALY/AUTISM SYNDROME
0.910
CausalMutation
CLINVAR
Cowden syndrome-related mutations in PTEN associate with enhanced proteasome activity.
23475934 2013
×
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
MACROCEPHALY/AUTISM SYNDROME
0.910
CausalMutation
CLINVAR
Cognitive characteristics of PTEN hamartoma tumor syndromes.
23470840 2013
×
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
MACROCEPHALY/AUTISM SYNDROME
0.910
GeneticVariation
CLINVAR
Lifetime cancer risks in individuals with germline PTEN mutations.
22252256 2012
×
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
MACROCEPHALY/AUTISM SYNDROME
0.910
Biomarker
GENOMICS_ENGLAND
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.
23160955 2012
×
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
MACROCEPHALY/AUTISM SYNDROME
0.910
GeneticVariation
UNIPROT
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.
23160955 2012
×
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
MACROCEPHALY/AUTISM SYNDROME
0.910
GeneticVariation
CLINVAR
Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome.
22595938 2012
×
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
MACROCEPHALY/AUTISM SYNDROME
0.910
CausalMutation
CLINVAR
PTEN hamartoma tumor syndrome and Gorham-Stout phenomenon.
22628360 2012
×
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
MACROCEPHALY/AUTISM SYNDROME
0.910
CausalMutation
CLINVAR
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.
23160955 2012
×
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
MACROCEPHALY/AUTISM SYNDROME
0.910
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
MACROCEPHALY/AUTISM SYNDROME
0.910
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
MACROCEPHALY/AUTISM SYNDROME
0.910
GermlineCausalMutation
ORPHANET
The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly.
19265751 2009
×
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
MACROCEPHALY/AUTISM SYNDROME
0.910
Biomarker
GENOMICS_ENGLAND
Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly.
17286265 2007
×
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
MACROCEPHALY/AUTISM SYNDROME
0.910
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
MACROCEPHALY/AUTISM SYNDROME
0.910
GermlineCausalMutation
ORPHANET
Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly.
17286265 2007
×
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
MACROCEPHALY/AUTISM SYNDROME
0.910
Biomarker
CTD_human
Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations.
15805158 2005