Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
0.410 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
0.410 Biomarker group CTD_human Bannayan-Riley-Ruvalcaba syndrome: a cause of extreme macrocephaly and neurodevelopmental delay. 19321504 2009
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
0.410 Biomarker group CTD_human Novel PTEN mutations in neurodevelopmental disorders and macrocephaly. 18759867 2009
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
0.410 Biomarker group BEFREE In the 5 years since the discovery of PTEN, encoding a dual specificity phosphatase tumor suppressor on 10q23, it has been shown to be a susceptibility gene for an inherited cancer syndrome, Cowden syndrome, and for several developmental disorders; it has been shown to play a prominent role in normal murine and human development; and it has been shown to be instrumental in cell cycle arrest, apoptosis, and/or possibly cell migration and cytoskeletal affairs. 12060605 2002
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
0.410 CausalMutation group CLINVAR