Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
0.400 GeneticVariation group CLINVAR Cowden syndrome: recognizing and managing a not-so-rare hereditary cancer syndrome. 25132236 2015
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
0.400 GeneticVariation group CLINVAR Hamartomatous polyposis syndromes: a review. 25022750 2014
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
0.400 GeneticVariation group CLINVAR Biochemical screening and PTEN mutation analysis in individuals with autism spectrum disorders and macrocephaly. 23695273 2014
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
0.400 GeneticVariation group CLINVAR Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria. 24136893 2013
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
0.400 GeneticVariation group CLINVAR Lifetime cancer risks in individuals with germline PTEN mutations. 22252256 2012
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
0.400 GeneticVariation group CLINVAR A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands. 21194675 2011
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
0.400 GeneticVariation group CLINVAR PTEN hamartoma tumor syndrome: an overview. 19668082 2009
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
0.400 GeneticVariation group CLINVAR 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
0.400 Biomarker group CTD_human Novel PTEN mutations in neurodevelopmental disorders and macrocephaly. 18759867 2009
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
0.400 GeneticVariation group CLINVAR Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly. 17427195 2007
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
0.400 GeneticVariation group CLINVAR Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity. 17392703 2007
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
0.400 GeneticVariation group CLINVAR Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly. 17286265 2007
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
0.400 GeneticVariation group CLINVAR Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations. 15805158 2005
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
0.400 GeneticVariation group CLINVAR Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway. 12844284 2003
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
0.400 GeneticVariation group CLINVAR Male breast cancer in Cowden syndrome patients with germline PTEN mutations. 11238682 2001