Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.630 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: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.630 GeneticVariation BEFREE PTEN mutations have been more recently reported in children with macrocephaly and autism spectrum disorders or mental retardation, without other symptoms of PHTS. 23124040

2013

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.630 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: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.630 Biomarker CTD_human Novel PTEN mutations in neurodevelopmental disorders and macrocephaly. 18759867

2009

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.630 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: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.630 Biomarker CTD_human Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly. 17427195

2007

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.630 Biomarker CTD_human Bannayan-Riley-Ruvalcaba syndrome: further delineation of the phenotype and management of PTEN mutation-positive cases. 14574156

2004

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.630 Biomarker CTD_human PTEN mutation in a family with Cowden syndrome and autism. 11496368

2001

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.630 Biomarker GENOMICS_ENGLAND

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
0.630 Biomarker HPO