PTEN, phosphatase and tensin homolog, 5728

N. diseases: 182; N. variants: 355
Disease: melanoma ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025202
Disease: melanoma
melanoma 		0.800 Biomarker disease CTD_human Genes deregulated at the DNA and mRNA level included well-known cancer genes partly already linked to melanoma (RAS genes, PTEN, AURKA, MAPK inhibitors Sprouty/Spred), but also novel candidates like SIPA1 (a Rap1GAP). 22535842 2012
CUI: C0025202
Disease: melanoma
melanoma 		0.800 Biomarker disease CTD_human Braf(V600E) cooperates with Pten loss to induce metastatic melanoma. 19282848 2009
CUI: C0025202
Disease: melanoma
melanoma 		0.800 Biomarker disease GENOMICS_ENGLAND Germline mutation of the tumour suppressor PTEN in Proteus syndrome. 12471211 2002
CUI: C0025202
Disease: melanoma
melanoma 		0.800 Biomarker disease CTD_human These data support the notion that PTEN alterations occur in some metastatic melanomas, and that mutation of this gene plays a role in the progression of some forms of melanoma. 10978354 2000
CUI: C0025202
Disease: melanoma
melanoma 		0.800 Biomarker disease GENOMICS_ENGLAND Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome. 9140396 1997
CUI: C0025202
Disease: melanoma
melanoma 		0.800 CausalMutation disease CGI
CUI: C0025202
Disease: melanoma
melanoma 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C0025202
Disease: melanoma
melanoma 		0.800 GeneticVariation disease UNIPROT