ETV1, ETS variant transcription factor 1, 2115

N. diseases: 62; N. variants: 5
Disease: melanoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025202
Disease: melanoma
melanoma 		0.040 AlteredExpression disease BEFREE Altered ETV1 expression does not affect melanoma net-proliferation. 26158900 2015
CUI: C0025202
Disease: melanoma
melanoma 		0.040 Biomarker disease BEFREE ETV1 is a key factor in gastrointestinal stromal tumors (GIST), and is promoted by CIC downregulation in melanoma. 24897389 2014
CUI: C0025202
Disease: melanoma
melanoma 		0.040 GeneticVariation disease BEFREE ETV1 expression is a rare event in human melanoma and seems to be rather based on hyperactivation of MAPK signals, by BRAF (V600E) mutation, than on ETV1 gene amplification. 25073704 2014
CUI: C0025202
Disease: melanoma
melanoma 		0.040 Biomarker disease BEFREE Fluorescence in situ hybridization analysis revealed copy gains spanning the ETV1 locus in >40% of cases, with ETV1 amplification (>6 copies/cell) present in 13% of primary and 18% of metastatic melanomas. 20160028 2010