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: rs1114167664
rs1114167664
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		TG 0.700 GeneticVariation CLINVAR Characterisation of the Phosphatidylinositol 3-Kinase Pathway in Non-Small Cell Lung Cancer Cells Isolated from Pleural Effusions. 27082424 2016
dbSNP: rs1114167664
rs1114167664
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		TG 0.700 GeneticVariation CLINVAR Analysis of protein-coding genetic variation in 60,706 humans. 27535533 2016
dbSNP: rs1114167664
rs1114167664
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		TG 0.700 GeneticVariation CLINVAR A global reference for human genetic variation. 26432245 2015
dbSNP: rs1114167664
rs1114167664
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		TG 0.700 GeneticVariation CLINVAR Functional evaluation of PTEN missense mutations using in vitro phosphoinositide phosphatase assay. 10866302 2000
dbSNP: rs1114167664
rs1114167664
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		TG 0.700 GeneticVariation CLINVAR Crystal structure of the PTEN tumor suppressor: implications for its phosphoinositide phosphatase activity and membrane association. 10555148 1999