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: rs587782187
rs587782187
Entrez Id: 5728;100144748
Gene Symbol: PTEN;KLLN
PTEN;KLLN
CUI: C1959582
Disease:
PTEN Hamartoma Tumor Syndrome 		G 0.700 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
dbSNP: rs587782187
rs587782187
Entrez Id: 5728;100144748
Gene Symbol: PTEN;KLLN
PTEN;KLLN
CUI: C1959582
Disease:
PTEN Hamartoma Tumor Syndrome 		G 0.700 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
dbSNP: rs587782187
rs587782187
Entrez Id: 5728;100144748
Gene Symbol: PTEN;KLLN
PTEN;KLLN
CUI: C1959582
Disease:
PTEN Hamartoma Tumor Syndrome 		G 0.700 CausalMutation CLINVAR Frequent gastrointestinal polyps and colorectal adenocarcinomas in a prospective series of PTEN mutation carriers. 20600018 2010
dbSNP: rs587782187
rs587782187
Entrez Id: 5728;100144748
Gene Symbol: PTEN;KLLN
PTEN;KLLN
CUI: C1959582
Disease:
PTEN Hamartoma Tumor Syndrome 		G 0.700 CausalMutation CLINVAR Germline mutations in PTEN and SDHC in a woman with epithelial thyroid cancer and carotid paraganglioma. 17898811 2007
dbSNP: rs587782187
rs587782187
Entrez Id: 5728;100144748
Gene Symbol: PTEN;KLLN
PTEN;KLLN
CUI: C1959582
Disease:
PTEN Hamartoma Tumor Syndrome 		G 0.700 CausalMutation CLINVAR Distinct expression profiles for PTEN transcript and its splice variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome. 16773562 2006
dbSNP: rs587782187
rs587782187
Entrez Id: 5728;100144748
Gene Symbol: PTEN;KLLN
PTEN;KLLN
CUI: C1959582
Disease:
PTEN Hamartoma Tumor Syndrome 		G 0.700 CausalMutation CLINVAR Germline inactivation of PTEN and dysregulation of the phosphoinositol-3-kinase/Akt pathway cause human Lhermitte-Duclos disease in adults. 14566704 2003
dbSNP: rs587782187
rs587782187
Entrez Id: 5728;100144748
Gene Symbol: PTEN;KLLN
PTEN;KLLN
CUI: C1959582
Disease:
PTEN Hamartoma Tumor Syndrome 		A 0.700 CausalMutation CLINVAR