rs121909231, PTEN

N. diseases: 29
Disease: Lhermitte-Duclos disease ×
Source: CURATED ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Lhermitte-Duclos disease
CUI: C0391826
Disease: Lhermitte-Duclos disease
0.720 CausalMutation CLINVAR A PTEN mutation, c.1003C>T p.(Arg335Ter), was subsequently identified as the cause of Cowden syndrome in another family member (a nephew) with dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease), and genetic testing in the proband's daughter indicated that he was an obligate carrier of the mutation. 25756585 2015
Lhermitte-Duclos disease
CUI: C0391826
Disease: Lhermitte-Duclos disease
0.720 CausalMutation CLINVAR Cowden syndrome-related mutations in PTEN associate with enhanced proteasome activity. 23475934 2013
Lhermitte-Duclos disease
CUI: C0391826
Disease: Lhermitte-Duclos disease
0.720 CausalMutation 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
Lhermitte-Duclos disease
CUI: C0391826
Disease: Lhermitte-Duclos disease
0.720 CausalMutation CLINVAR Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis. 10749983 2000
Lhermitte-Duclos disease
CUI: C0391826
Disease: Lhermitte-Duclos disease
0.720 CausalMutation CLINVAR The tumor-suppressor activity of PTEN is regulated by its carboxyl-terminal region. 10468583 1999
Lhermitte-Duclos disease
CUI: C0391826
Disease: Lhermitte-Duclos disease
0.720 CausalMutation CLINVAR Phenotypic findings of Cowden syndrome and Bannayan-Zonana syndrome in a family associated with a single germline mutation in PTEN. 10353779 1999
Lhermitte-Duclos disease
CUI: C0391826
Disease: Lhermitte-Duclos disease
0.720 CausalMutation CLINVAR Inherited mutations in PTEN that are associated with breast cancer, cowden disease, and juvenile polyposis. 9399897 1997