Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
0.500 Biomarker disease CTD_human Novel PTEN mutations in neurodevelopmental disorders and macrocephaly. 18759867 2009
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
0.500 Biomarker disease 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
0.500 Biomarker disease 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
0.500 Biomarker disease CTD_human We review the scanty literature data on the association of Cowden syndrome and autism and emphasize that the association of progressive macrocephaly and pervasive developmental disorder seems to be an indication for screening for PTEN mutations. 11496368 2001