PTEN, phosphatase and tensin homolog, 5728

N. diseases: 1349; N. variants: 384
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1205454520
rs1205454520
Entrez Id: 5728;100144748
Gene Symbol: PTEN;KLLN
PTEN;KLLN
CUI: C0027651
Disease:
Neoplasms
0.030 GeneticVariation BEFREE Furthermore, enhancement of TLX activity, by either ectopic expression or ligand stimulation, could potently prevent doxorubicin-induced senescence in prostate cancer cells and also allow prostatic epithelial cells to escape oncogene-induced senescence induced either by activated oncogene H-Ras(G12V) or knockdown of tumour suppressor PTEN, via a mechanism of direct but differential transcriptional regulation of two senescence-associated genes, repression of CDKN1A and transactivation of SIRT1. 25557355 2015
dbSNP: rs1205454520
rs1205454520
Entrez Id: 5728;100144748
Gene Symbol: PTEN;KLLN
PTEN;KLLN
CUI: C0027651
Disease:
Neoplasms
0.030 GeneticVariation BEFREE KRAS mutations were detected in 4 (3%) of 117 tumors (3× G12D and 1 G12V mutation).One tumor had a PIK3CA E545K mutation. 23158210 2013
dbSNP: rs1205454520
rs1205454520
Entrez Id: 5728;100144748
Gene Symbol: PTEN;KLLN
PTEN;KLLN
CUI: C0027651
Disease:
Neoplasms
0.030 GeneticVariation BEFREE Each of three Ki-ras(G12V) transfectants responded to TGF-beta1 by an increase in proliferation and by decreasing the abundance of the Cdk inhibitor p21 and the tumor suppressor PTEN, whereas each of three wild-type Ki-ras transfectants remained unresponsive to TGF-beta1. 11029459 2001