|
MACROCEPHALY/AUTISM SYNDROME
|
0.910 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous mutations in PTEN, which encodes a negative regulator of the mTOR and β-catenin signaling pathways, cause macrocephaly/autism syndrome.
|
31441226 |
2019 |
|
MACROCEPHALY/AUTISM SYNDROME
|
0.910 |
CausalMutation
|
disease |
CLINVAR |
Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.
|
28475857 |
2017 |
|
MACROCEPHALY/AUTISM SYNDROME
|
0.910 |
CausalMutation
|
disease |
CLINVAR |
A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly.
|
28086757 |
2017 |
|
MACROCEPHALY/AUTISM SYNDROME
|
0.910 |
CausalMutation
|
disease |
CLINVAR |
Molecular diagnostic experience of whole-exome sequencing in adult patients.
|
26633545 |
2016 |
|
MACROCEPHALY/AUTISM SYNDROME
|
0.910 |
CausalMutation
|
disease |
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
|
MACROCEPHALY/AUTISM SYNDROME
|
0.910 |
CausalMutation
|
disease |
CLINVAR |
KLLN epigenotype-phenotype associations in Cowden syndrome.
|
25669429 |
2015 |
|
MACROCEPHALY/AUTISM SYNDROME
|
0.910 |
GeneticVariation
|
disease |
UNIPROT |
Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms.
|
26637798 |
2015 |
|
MACROCEPHALY/AUTISM SYNDROME
|
0.910 |
CausalMutation
|
disease |
CLINVAR |
Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations.
|
24778394 |
2014 |
|
MACROCEPHALY/AUTISM SYNDROME
|
0.910 |
Biomarker
|
disease |
MGD |
Germline disruption of Pten localization causes enhanced sex-dependent social motivation and increased glial production.
|
24470394 |
2014 |
|
MACROCEPHALY/AUTISM SYNDROME
|
0.910 |
CausalMutation
|
disease |
CLINVAR |
Biochemical screening and PTEN mutation analysis in individuals with autism spectrum disorders and macrocephaly.
|
23695273 |
2014 |
|
MACROCEPHALY/AUTISM SYNDROME
|
0.910 |
CausalMutation
|
disease |
CLINVAR |
Cowden syndrome-related mutations in PTEN associate with enhanced proteasome activity.
|
23475934 |
2013 |
|
MACROCEPHALY/AUTISM SYNDROME
|
0.910 |
CausalMutation
|
disease |
CLINVAR |
Cognitive characteristics of PTEN hamartoma tumor syndromes.
|
23470840 |
2013 |
|
MACROCEPHALY/AUTISM SYNDROME
|
0.910 |
GeneticVariation
|
disease |
CLINVAR |
Lifetime cancer risks in individuals with germline PTEN mutations.
|
22252256 |
2012 |
|
MACROCEPHALY/AUTISM SYNDROME
|
0.910 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.
|
23160955 |
2012 |
|
MACROCEPHALY/AUTISM SYNDROME
|
0.910 |
GeneticVariation
|
disease |
UNIPROT |
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.
|
23160955 |
2012 |
|
MACROCEPHALY/AUTISM SYNDROME
|
0.910 |
GeneticVariation
|
disease |
CLINVAR |
Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome.
|
22595938 |
2012 |
|
MACROCEPHALY/AUTISM SYNDROME
|
0.910 |
CausalMutation
|
disease |
CLINVAR |
PTEN hamartoma tumor syndrome and Gorham-Stout phenomenon.
|
22628360 |
2012 |
|
MACROCEPHALY/AUTISM SYNDROME
|
0.910 |
CausalMutation
|
disease |
CLINVAR |
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.
|
23160955 |
2012 |
|
MACROCEPHALY/AUTISM SYNDROME
|
0.910 |
CausalMutation
|
disease |
CLINVAR |
Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features.
|
21659347 |
2011 |
|
MACROCEPHALY/AUTISM SYNDROME
|
0.910 |
CausalMutation
|
disease |
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 |
|
MACROCEPHALY/AUTISM SYNDROME
|
0.910 |
GermlineCausalMutation
|
disease |
ORPHANET |
The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly.
|
19265751 |
2009 |
|
MACROCEPHALY/AUTISM SYNDROME
|
0.910 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly.
|
17286265 |
2007 |
|
MACROCEPHALY/AUTISM SYNDROME
|
0.910 |
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 |
|
MACROCEPHALY/AUTISM SYNDROME
|
0.910 |
GermlineCausalMutation
|
disease |
ORPHANET |
Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly.
|
17286265 |
2007 |
|
MACROCEPHALY/AUTISM SYNDROME
|
0.910 |
Biomarker
|
disease |
CTD_human |
Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations.
|
15805158 |
2005 |