PTEN, phosphatase and tensin homolog, 5728

N. diseases: 107; N. variants: 343
Disease: Hamartoma Syndrome, Multiple ×
Source: CLINVAR ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		1.000 CausalMutation disease CLINVAR Thyroid involvement in two patients with Bannayan-Riley-Ruvalcaba syndrome. 24379037 2013
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		1.000 CausalMutation disease CLINVAR High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome. 23335809 2013
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		1.000 CausalMutation disease CLINVAR Duodenal carcinoma in a 37-year-old man with Cowden/Bannayan syndrome. 23117110 2013
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		1.000 GeneticVariation disease CLINVAR Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome. 22595938 2012
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		1.000 GeneticVariation disease CLINVAR Elevated plasma succinate in PTEN, SDHB, and SDHD mutation-positive individuals. 22261759 2012
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		1.000 GeneticVariation disease CLINVAR PTEN in colorectal cancer: a report on two Cowden syndrome patients. 21291452 2012
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		1.000 CausalMutation disease CLINVAR PTEN hamartoma tumor syndrome and Gorham-Stout phenomenon. 22628360 2012
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		1.000 GeneticVariation disease CLINVAR Lifetime cancer risks in individuals with germline PTEN mutations. 22252256 2012
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		1.000 CausalMutation disease CLINVAR Clinicopathologic and molecular analysis of a choroidal pigmented schwannoma in the context of a PTEN hamartoma tumor syndrome. 22281088 2012
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		1.000 CausalMutation disease CLINVAR Autoimmunity, intestinal lymphoid hyperplasia, and defects in mucosal B-cell homeostasis in patients with PTEN hamartoma tumor syndrome. 22266152 2012
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		1.000 CausalMutation disease CLINVAR "Beta catenin and cytokine pathway dysregulation in patients with manifestations of the ""PTEN hamartoma tumor syndrome""." 22520842 2012
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		1.000 GeneticVariation disease CLINVAR Challenges in the management of a patient with Cowden syndrome: case report and literature review. 22503188 2012
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		1.000 GeneticVariation disease CLINVAR PTEN hamartoma tumor syndrome and Gorham-Stout phenomenon. 22628360 2012
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		1.000 CausalMutation disease CLINVAR Incidence and clinical characteristics of thyroid cancer in prospective series of individuals with Cowden and Cowden-like syndrome characterized by germline PTEN, SDH, or KLLN alterations. 21956414 2011
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		1.000 CausalMutation disease CLINVAR A comprehensive functional analysis of PTEN mutations: implications in tumor- and autism-related syndromes. 21828076 2011
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		1.000 CausalMutation disease 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
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		1.000 GeneticVariation disease CLINVAR A comprehensive functional analysis of PTEN mutations: implications in tumor- and autism-related syndromes. 21828076 2011
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		1.000 CausalMutation disease CLINVAR Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features. 21659347 2011
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		1.000 GeneticVariation disease 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
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		1.000 GeneticVariation disease CLINVAR Lhermitte-Duclos disease caused by a novel germline PTEN mutation R173P in a patient presenting with psychosis. 19719509 2010
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		1.000 CausalMutation disease CLINVAR Molecular apocrine differentiation is a common feature of breast cancer in patients with germline PTEN mutations. 20712882 2010
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		1.000 CausalMutation disease CLINVAR Bannayan-Riley-Ruvalcaba syndrome with posterior subcapsular congenital cataract and a consensus sequence splicing PTEN mutation. 18080326 2008
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		1.000 GeneticVariation disease CLINVAR In vivo functional analysis of the counterbalance of hyperactive phosphatidylinositol 3-kinase p110 catalytic oncoproteins by the tumor suppressor PTEN. 17942903 2007
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		1.000 CausalMutation disease CLINVAR Cancer phenomics: RET and PTEN as illustrative models. 17167516 2007
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		1.000 CausalMutation disease 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