PTEN, phosphatase and tensin homolog, 5728

N. diseases: 1349; N. variants: 384
Disease: Neoplastic Syndromes, Hereditary ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1085308041
rs1085308041
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells. 27477328 2017
dbSNP: rs1085308041
rs1085308041
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features. 21659347 2011
dbSNP: rs1085308041
rs1085308041
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR Synchronous bilateral breast carcinoma in a patient with cowden syndrome: a case report with morphologic, immunohistochemical and genetic analysis. 19968660 2010
dbSNP: rs1085308041
rs1085308041
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR The prevalence of PTEN mutations in a clinical pediatric cohort with autism spectrum disorders, developmental delay, and macrocephaly. 19265751 2009