Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
0.450 GeneticVariation group BEFREE In doing so, we present evidence supporting a model of PTEN loss leading to neurobehavioral deficits, including ASD and intellectual disability. 31307976 2019
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
0.450 Biomarker group BEFREE The expression of mutant isocitrate dehydrogenase 1 (IDH1), α-thalassemia X-linked intellectual disability (ATRX), p53, phosphatase and tensin homolog (PTEN), and epidermal growth factor receptor (EGFR) was examined immunohistochemically; for 1p19q analysis we used fluorescence in situ hybridization (FISH). 27553586 2017
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
0.450 GeneticVariation group 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
0.450 GeneticVariation group 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
0.450 GeneticVariation group 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
0.450 Biomarker group CTD_human Novel PTEN mutations in neurodevelopmental disorders and macrocephaly. 18759867 2009
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
0.450 Biomarker group 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
0.450 Biomarker group 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
0.450 Biomarker group CTD_human Bannayan-Riley-Ruvalcaba syndrome: further delineation of the phenotype and management of PTEN mutation-positive cases. 14574156 2003
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
0.450 Biomarker group CTD_human PTEN mutation in a family with Cowden syndrome and autism. 11496368 2001
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
0.450 Biomarker group HPO