MLANA, melan-A, 2315

N. diseases: 92; N. variants: 1
Disease: Renal Cell Carcinoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.020 GeneticVariation disease BEFREE Additional whole sections of t(6;11) RCC were labeled with selected IHC markers. t(6;11) RCC labeled diffusely and consistently for cathepsin K and Melan A (13 of 13 cases) and almost always at least focally for HMB45 (12 of 13 cases). 24618616 2014
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.020 AlteredExpression disease BEFREE The t(6;11) RCCs differ from most conventional RCCs in that they consistently express melanocytic immunohistochemical (IHC) markers such as HMB45 and Melan A and the cysteine protease cathepsin K but are often negative for epithelial markers such as cytokeratins. 22892601 2012