Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Cowden syndrome: recognizing and managing a not-so-rare hereditary cancer syndrome. 25132236

2015
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Biochemical screening and PTEN mutation analysis in individuals with autism spectrum disorders and macrocephaly. 23695273

2014
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Hamartomatous polyposis syndromes: a review. 25022750

2014
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria. 24136893

2013
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Lifetime cancer risks in individuals with germline PTEN mutations. 22252256

2012
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation 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
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation 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
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR PTEN hamartoma tumor syndrome: an overview. 19668082

2009
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Increasing knowledge of PTEN germline mutations: Two additional patients with autism and macrocephaly. 17286265

2007
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation 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
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly. 17427195

2007
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation 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
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation 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
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.100 CausalMutation CLINVAR Male breast cancer in Cowden syndrome patients with germline PTEN mutations. 11238682

2001