PTEN, phosphatase and tensin homolog, 5728

N. diseases: 1349; N. variants: 384
Disease: Proteus-Like Syndrome (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909232
rs121909232
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1866398
Disease:
Proteus-Like Syndrome (disorder) 		A 0.700 CausalMutation CLINVAR Second malignant neoplasms in patients with Cowden syndrome with underlying germline PTEN mutations. 24778394 2014
dbSNP: rs121909232
rs121909232
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1866398
Disease:
Proteus-Like Syndrome (disorder) 		A 0.700 CausalMutation CLINVAR Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features. 21659347 2011
dbSNP: rs121909232
rs121909232
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1866398
Disease:
Proteus-Like Syndrome (disorder) 		A 0.700 CausalMutation CLINVAR Analysis of PTEN gene mutations in Korean patients with Cowden syndrome and polyposis syndrome. 16007494 2005
dbSNP: rs121909232
rs121909232
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1866398
Disease:
Proteus-Like Syndrome (disorder) 		A 0.700 CausalMutation CLINVAR Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes. 11476841 2001
dbSNP: rs121909232
rs121909232
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1866398
Disease:
Proteus-Like Syndrome (disorder) 		A 0.700 CausalMutation CLINVAR Appendectomy, tonsillectomy, and neoplasia. 1097835 1975