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: rs121909223
rs121909223
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1959582
Disease:
PTEN Hamartoma Tumor Syndrome 		C 0.700 CausalMutation CLINVAR A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships. 29706350 2018
dbSNP: rs121909223
rs121909223
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1959582
Disease:
PTEN Hamartoma Tumor Syndrome 		C 0.700 CausalMutation CLINVAR Analysis of protein-coding genetic variation in 60,706 humans. 27535533 2016
dbSNP: rs121909223
rs121909223
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1959582
Disease:
PTEN Hamartoma Tumor Syndrome 		C 0.700 CausalMutation CLINVAR Allele-specific tumor spectrum in pten knockin mice. 20194734 2010
dbSNP: rs121909223
rs121909223
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1959582
Disease:
PTEN Hamartoma Tumor Syndrome 		C 0.700 CausalMutation CLINVAR PTEN catalysis of phospholipid dephosphorylation reaction follows a two-step mechanism in which the conserved aspartate-92 does not function as the general acid--mechanistic analysis of a familial Cowden disease-associated PTEN mutation. 17324556 2007
dbSNP: rs121909223
rs121909223
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1959582
Disease:
PTEN Hamartoma Tumor Syndrome 		C 0.700 CausalMutation CLINVAR Functional evaluation of PTEN missense mutations using in vitro phosphoinositide phosphatase assay. 10866302 2000
dbSNP: rs121909223
rs121909223
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1959582
Disease:
PTEN Hamartoma Tumor Syndrome 		C 0.700 CausalMutation CLINVAR Crystal structure of the PTEN tumor suppressor: implications for its phosphoinositide phosphatase activity and membrane association. 10555148 1999
dbSNP: rs121909223
rs121909223
Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1959582
Disease:
PTEN Hamartoma Tumor Syndrome 		C 0.700 CausalMutation CLINVAR Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease. 9259288 1997