Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.700 GeneticVariation BEFREE Germline mutations in the tumor-suppressor gene PTEN predispose to subsets of Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome, and autism. 28677221

2018

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.700 Biomarker BEFREE Reciprocal regulation of autism-related genes MeCP2 and PTEN via microRNAs. 26843422

2017

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.700 Biomarker BEFREE Exome sequencing of the family also identified a rare inherited variant predicted to disrupt splicing of TPTE / PTEN2, a PTEN homologue, which may likewise contribute to both macrocephaly and autism risk. 26076356

2016

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.700 GeneticVariation BEFREE The phenotypic spectrum of PTEN mutations expanded to include autism with macrocephaly only 10 years ago. 25916396

2016

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.700 GeneticVariation BEFREE Molecular and phenotypic abnormalities in individuals with germline heterozygous PTEN mutations and autism. 25288137

2016

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.700 GeneticVariation BEFREE Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes. 25527629

2016

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.700 Biomarker MGD Decreased aggression and increased repetitive behavior in Pten haploinsufficient mice. 25561290

2015

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.700 Biomarker BEFREE Variants of human PTEN linked to somatic cancers and disorders on the autism spectrum are shown to be impaired in their conformational stability, catalytic activity, or both. 25647146

2015

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.700 Biomarker BEFREE Autism-epilepsy phenotype with macrocephaly suggests PTEN, but not GLIALCAM, genetic screening. 24580998

2014

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.700 GeneticVariation BEFREE In addition, emerging data suggest that PTEN mutation can synergize with mutations in other autism susceptibility genes to contribute to the development of autistic behaviors. 22664040

2013

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.700 GeneticVariation BEFREE De novo phosphatase and tensin homolog on chromosome ten (PTEN) mutations are a cause of sporadic autism. 24145404

2013

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.700 GeneticVariation BEFREE PHTS patients with destabilizing PTEN mutations and proteasome hyperactivity are more susceptible to develop neurologic symptoms such as mental retardation and autism than mutation-positive patients with normal proteasome activity. 23475934

2013

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.700 AlteredExpression BEFREE GABRB3, RELN, and HTR2A showed reduced expression, whereas CD38, ITGB3, MAOA, MECP2, OXTR, and PTEN showed elevated expression in autism. 22030357

2012

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.700 GeneticVariation BEFREE Phosphatase and tensin homolog (PTEN) gene mutations and autism: literature review and a case report of a patient with Cowden syndrome, autistic disorder, and epilepsy. 21960672

2012

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.700 GeneticVariation BEFREE A comprehensive functional analysis of PTEN mutations: implications in tumor- and autism-related syndromes. 21828076

2012

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.700 Biomarker BEFREE EIF4E mediated translation is the final common process modulated by the mammalian target of rapamycin (mTOR), PTEN and fragile X mental retardation protein (FMRP) pathways, which are implicated in autism. 19556253

2010

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.700 GeneticVariation BEFREE Confirmation study of PTEN mutations among individuals with autism or developmental delays/mental retardation and macrocephaly. 20533527

2010

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.700 Biomarker CTD_human 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
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.700 Biomarker CTD_human Pharmacological inhibition of mTORC1 suppresses anatomical, cellular, and behavioral abnormalities in neural-specific Pten knock-out mice. 19211884

2009

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.700 Biomarker CTD_human Novel PTEN mutations in neurodevelopmental disorders and macrocephaly. 18759867

2009

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.700 Biomarker BEFREE PTEN gene sequencing should be considered in any child with macrocephaly and autism or developmental delay. 17505203

2008

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.700 Biomarker BEFREE In accordance with its ability to influence multiple crucial cellular processes, PTEN has a major role in the pathogenesis of numerous diseases such as diabetes, autism and almost every cancer examined. 18794882

2008

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.700 Biomarker BEFREE Deregulation of PTEN function is implicated in other human diseases in addition to cancer, including diabetes and autism. 18032782

2008

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.700 GeneticVariation BEFREE Some patients with a PTEN mutation have only macrocephaly and autism, but they may still be at risk for neoplasms. 17526801

2007

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.700 GeneticVariation BEFREE Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly. 17286265

2007