PTEN, phosphatase and tensin homolog, 5728

N. diseases: 1349; N. variants: 384
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.440 GeneticVariation disease BEFREE PREX2 (phosphatidylinositol-3,4,5-triphosphate-dependent Rac-exchange factor 2) is a PTEN (phosphatase and tensin homolog deleted on chromosome 10) binding protein that is significantly mutated in cutaneous melanoma and pancreatic ductal adenocarcinoma. 26884185 2016
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.440 GeneticVariation disease CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.440 Biomarker disease BEFREE Examination of mutations in BRAF, NRAS, and PTEN in primary cutaneous melanoma. 16417231 2006
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.440 GeneticVariation disease BEFREE Our results obtained from tissue samples underline that mutations of PTEN/MMAC1 are not an essential event in the onset of malignant melanoma of the skin, but could have an impact on tumor progression. 11297763 2001
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.440 AlteredExpression disease BEFREE Both inactivation of the tumor suppressor gene, PTEN/MMAC1, and oncogenic activation of RAS have been described in human cutaneous melanoma. 10766161 2000
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.440 CausalMutation disease CGI