PTEN, phosphatase and tensin homolog, 5728

N. diseases: 1349; N. variants: 384
Disease: PTEN Hamartoma Tumor Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs762518389
rs762518389
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1959582
Disease:
PTEN Hamartoma Tumor Syndrome 		A 0.700 CausalMutation CLINVAR Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes. 25527629 2015
dbSNP: rs762518389
rs762518389
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1959582
Disease:
PTEN Hamartoma Tumor Syndrome 		A 0.700 CausalMutation CLINVAR A novel deleterious PTEN mutation in a patient with early-onset bilateral breast cancer. 24498881 2014
dbSNP: rs762518389
rs762518389
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1959582
Disease:
PTEN Hamartoma Tumor Syndrome 		A 0.700 CausalMutation CLINVAR A comprehensive functional analysis of PTEN mutations: implications in tumor- and autism-related syndromes. 21828076 2011
dbSNP: rs762518389
rs762518389
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1959582
Disease:
PTEN Hamartoma Tumor Syndrome 		A 0.700 CausalMutation CLINVAR In vivo functional analysis of the counterbalance of hyperactive phosphatidylinositol 3-kinase p110 catalytic oncoproteins by the tumor suppressor PTEN. 17942903 2007
dbSNP: rs762518389
rs762518389
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1959582
Disease:
PTEN Hamartoma Tumor Syndrome 		A 0.700 CausalMutation CLINVAR Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers. 17526800 2007
dbSNP: rs762518389
rs762518389
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1959582
Disease:
PTEN Hamartoma Tumor Syndrome 		A 0.700 CausalMutation CLINVAR A novel loss-of-function mutation (N48K) in the PTEN gene in a Spanish patient with Cowden disease. 14675182 2003