Disease: mucosal melanoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3898222
Disease: mucosal melanoma
mucosal melanoma 		0.400 GeneticVariation disease BEFREE Mutations of the KIT gene were correlated to mucosal melanoma (odds ratio = 1.59). 31274706 2020
CUI: C3898222
Disease: mucosal melanoma
mucosal melanoma 		0.400 GeneticVariation disease BEFREE In contrast, SF3B1 and KIT have higher mutation rate in mucosal melanoma as compared to cutaneous melanoma. 31655118 2020
CUI: C3898222
Disease: mucosal melanoma
mucosal melanoma 		0.400 AlteredExpression disease BEFREE CD117 immunoexpression in oral and sinonasal mucosal melanoma does not correlate with somatic driver mutations in the MAPK pathway. 30873641 2019
CUI: C3898222
Disease: mucosal melanoma
mucosal melanoma 		0.400 GeneticVariation disease BEFREE The incidence of KIT mutation was significantly higher in older individuals (OR=1.296, 95% CI: 1.025-1.641; P=0.031), and showed a positive association with mucosal melanoma (OR=1.363, 95% CI: 1.094-1.697; P=0.006), acral melanoma (OR=1.374, 95% CI: 1.123-1.682; P=0.02), and CSD (OR=1.880, 95% CI: 1.127-3.136; P=0.016), but a negative relationship with melanomas arising in non-CSD skin (OR=0.562, 95% CI: 0.392-0.805; P=0.002). 29746316 2018
CUI: C3898222
Disease: mucosal melanoma
mucosal melanoma 		0.400 Biomarker disease BEFREE Whole-exome sequencing identifies recurrent SF3B1 R625 mutation and comutation of NF1 and KIT in mucosal melanoma. 28296713 2017
CUI: C3898222
Disease: mucosal melanoma
mucosal melanoma 		0.400 AlteredExpression disease BEFREE The acral/mucosal melanoma subtype is characterized by aberrant and constitutive activation of the proto-oncogene receptor tyrosine kinase C-KIT, which drives tumorigenesis. 29035277 2017
CUI: C3898222
Disease: mucosal melanoma
mucosal melanoma 		0.400 GeneticVariation disease BEFREE We used next-generation sequencing of circulating cell-free DNA (cfDNA) to monitor the response of a KIT p.L576P-mutant metastatic vaginal mucosal melanoma to sequential targeted, immuno- and chemotherapy. 27502704 2016
CUI: C3898222
Disease: mucosal melanoma
mucosal melanoma 		0.400 GeneticVariation disease BEFREE Novel somatic KIT exon 8 mutation with dramatic response to imatinib in a patient with mucosal melanoma: a case report. 25003536 2014
CUI: C3898222
Disease: mucosal melanoma
mucosal melanoma 		0.400 GeneticVariation disease BEFREE Metabolic response by FDG-PET to imatinib correlates with exon 11 KIT mutation and predicts outcome in patients with mucosal melanoma. 25609545 2014
CUI: C3898222
Disease: mucosal melanoma
mucosal melanoma 		0.400 AlteredExpression disease BEFREE We identified 59 acral and mucosal melanoma cases, of which 78% showed variable levels of KIT expression. 22513068 2012
CUI: C3898222
Disease: mucosal melanoma
mucosal melanoma 		0.400 GeneticVariation disease BEFREE KIT mutations in Russian patients with mucosal melanoma. 21971089 2011
CUI: C3898222
Disease: mucosal melanoma
mucosal melanoma 		0.400 CausalMutation disease CGI