Disease: metastatic intraocular melanoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4725091
Disease: metastatic intraocular melanoma
metastatic intraocular melanoma 		0.010 GeneticVariation disease BEFREE Here we present a metastatic uveal melanoma patient with an exceptional high sensitivity to a PD-1 inhibitor associated with outlier CpG>TpG mutation burden, MBD4 germline deleterious mutation, and somatic MBD4 inactivation in the tumor. 29760383 2018