Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0917816
Disease: Mental deficiency
Mental deficiency 		0.310 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: C0917816
Disease: Mental deficiency
Mental deficiency 		0.310 Biomarker CTD_human Novel PTEN mutations in neurodevelopmental disorders and macrocephaly. 18759867

2009
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0917816
Disease: Mental deficiency
Mental deficiency 		0.310 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: C0917816
Disease: Mental deficiency
Mental deficiency 		0.310 Biomarker 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
CUI: C0917816
Disease: Mental deficiency
Mental deficiency 		0.310 Biomarker CTD_human PTEN mutation in a family with Cowden syndrome and autism. 11496368

2001
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0917816
Disease: Mental deficiency
Mental deficiency 		0.310 GeneticVariation BEFREE Mutations of phosphatase and tensin homolog deleted on chromosome 10 (PTEN), a protein and lipid phosphatase, have been associated with gliomas, macrocephaly, and mental deficiencies. 10662831

2000