×
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
MACROCEPHALY/AUTISM SYNDROME
0.910
Biomarker
GENOMICS_ENGLAND
×
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
MACROCEPHALY/AUTISM SYNDROME
0.910
Biomarker
GENOMICS_ENGLAND
×
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
MACROCEPHALY/AUTISM SYNDROME
0.910
Biomarker
GENOMICS_ENGLAND
Multiple hamartoma syndrome (Cowden's disease).
4635800 1972
×
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
MACROCEPHALY/AUTISM SYNDROME
0.910
CausalMutation
CLINVAR
Inherited mutations in PTEN that are associated with breast cancer, cowden disease, and juvenile polyposis.
9399897 1997
×
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
MACROCEPHALY/AUTISM SYNDROME
0.910
CausalMutation
CLINVAR
Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype.
9832032 1998
×
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
MACROCEPHALY/AUTISM SYNDROME
0.910
CausalMutation
CLINVAR
Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis.
10749983 2000
×
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
×
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
MACROCEPHALY/AUTISM SYNDROME
0.910
GermlineCausalMutation
ORPHANET
Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations.
15805158 2005
×
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
MACROCEPHALY/AUTISM SYNDROME
0.910
GeneticVariation
UNIPROT
Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations.
15805158 2005
×
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
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
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: 220296
Gene Symbol: HEPACAM
HEPACAM
MACROCEPHALY/AUTISM SYNDROME
0.300
GermlineCausalMutation
ORPHANET
Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism.
21419380 2011
×
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
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
CausalMutation
CLINVAR
Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations.
24778394 2014