Disease: melanoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025202
Disease: melanoma
melanoma 		0.500 CausalMutation disease CGI
CUI: C0025202
Disease: melanoma
melanoma 		0.500 CausalMutation disease CLINVAR "Study of the role of ""gatekeeper"" mutations V654A and T670I of c-kit kinase in the interaction with inhibitors by means mixed molecular dynamics/docking approach." 22355224 2011
CUI: C0025202
Disease: melanoma
melanoma 		0.500 AlteredExpression disease BEFREE <b>Purpose:</b> c-KIT overexpression is well recognized in cancers such as gastrointestinal stromal tumors (GIST), small cell lung cancer (SCLC), melanoma, non-small cell lung cancer (NSCLC), and acute myelogenous leukemia (AML). 29764854 2018
CUI: C0025202
Disease: melanoma
melanoma 		0.500 GeneticVariation disease BEFREE Melanomas with demonstrated activating mutations in KIT or platelet-derived growth factor receptor A (PDGFRA) may benefit from treatment with tyrosine kinase inhibitors. 21478825 2011
CUI: C0025202
Disease: melanoma
melanoma 		0.500 AlteredExpression disease BEFREE CD117 showed decreased staining of the primary malignant blue nevus with marked upregulation in the metastatic lesion, unlike most metastatic melanomas. 17976211 2008
CUI: C0025202
Disease: melanoma
melanoma 		0.500 GeneticVariation disease BEFREE KIT mutations were detected in 23% (3 of 13) of acral melanomas, 15.6% (7 of 45) of mucosal melanomas, 7.7% (1 of 13) of conjunctival melanomas, 1.7% (1 of 58) of cutaneous melanomas, and 0% (0 of 60) of choroidal melanomas. 18980976 2008
CUI: C0025202
Disease: melanoma
melanoma 		0.500 CausalMutation disease CLINVAR KIT mutations were detected in 23% (3 of 13) of acral melanomas, 15.6% (7 of 45) of mucosal melanomas, 7.7% (1 of 13) of conjunctival melanomas, 1.7% (1 of 58) of cutaneous melanomas, and 0% (0 of 60) of choroidal melanomas. 18980976 2008
CUI: C0025202
Disease: melanoma
melanoma 		0.500 GeneticVariation disease CLINVAR KIT mutations were detected in 23% (3 of 13) of acral melanomas, 15.6% (7 of 45) of mucosal melanomas, 7.7% (1 of 13) of conjunctival melanomas, 1.7% (1 of 58) of cutaneous melanomas, and 0% (0 of 60) of choroidal melanomas. 18980976 2008
CUI: C0025202
Disease: melanoma
melanoma 		0.500 GeneticVariation disease LHGDN KIT mutations were detected in 23% (3 of 13) of acral melanomas, 15.6% (7 of 45) of mucosal melanomas, 7.7% (1 of 13) of conjunctival melanomas, 1.7% (1 of 58) of cutaneous melanomas, and 0% (0 of 60) of choroidal melanomas. 18980976 2008
CUI: C0025202
Disease: melanoma
melanoma 		0.500 Biomarker disease BEFREE KIT as a therapeutic target in melanoma. 19847190 2010
CUI: C0025202
Disease: melanoma
melanoma 		0.500 GeneticVariation disease BEFREE KIT mutations were found in 38% of mucosal and in 6% of acral melanomas. 20372153 2010
CUI: C0025202
Disease: melanoma
melanoma 		0.500 AlteredExpression disease BEFREE c-kit gene mutation and CD117 expression in human anorectal melanomas. 22154054 2012
CUI: C0025202
Disease: melanoma
melanoma 		0.500 GeneticVariation disease BEFREE KIT mutations were detected in 9 (23.1%) of 39 cases of primary acral melanomas. 23528861 2013
CUI: C0025202
Disease: melanoma
melanoma 		0.500 GeneticVariation disease BEFREE C-KIT mutations are associatied with several human malignancies, such as gastrointestinal stromal tumors, acute myeloid leukemia, mast cell leukemia, and melanoma. 23944364 2014
CUI: C0025202
Disease: melanoma
melanoma 		0.500 GeneticVariation disease BEFREE KIT mutations appear to be specific for melanomas of the vulva, suggesting that in spite of the anatomic proximity, the development of vulvar and vaginal melanomas involves different molecular alterations which may be targeted by novel treatment approaches. 24603591 2014
CUI: C0025202
Disease: melanoma
melanoma 		0.500 Biomarker disease BEFREE KIT has been suggested to be a potential therapeutic target for malignant melanoma. 26424760 2015
CUI: C0025202
Disease: melanoma
melanoma 		0.500 Biomarker disease BEFREE KIT and NF1 were frequently comutated (32%) in the mucosal subgroup, with a significantly higher incidence than that in cutaneous melanoma (4%). 28296713 2017
CUI: C0025202
Disease: melanoma
melanoma 		0.500 AlteredExpression disease BEFREE KIT mutations and CD117 overexpression are markers of better progression-free survival in vulvar melanomas. 28734009 2017
CUI: C0025202
Disease: melanoma
melanoma 		0.500 Biomarker disease BEFREE KIT Suppresses BRAF<sup>V600E</sup>-Mutant Melanoma by Attenuating Oncogenic RAS/MAPK Signaling. 28947418 2017
CUI: C0025202
Disease: melanoma
melanoma 		0.500 GeneticVariation disease BEFREE KIT mutations were common in amelanotic acral melanoma. 29191620 2018
CUI: C0025202
Disease: melanoma
melanoma 		0.500 GeneticVariation disease BEFREE KIT mutations, which are critical in the genetic pathogenesis of melanomas, define a unique subtype of melanoma associated closely with older age, and acral, mucosal, or CSD sites, but not associated with any histological features or tumor stage. 29746316 2018
CUI: C0025202
Disease: melanoma
melanoma 		0.500 AlteredExpression disease BEFREE KIT expression was seen in 50% (7/14) of melanomas including single KIT mutant. 30760858 2019
CUI: C0025202
Disease: melanoma
melanoma 		0.500 GeneticVariation disease BEFREE KIT mutations and copy number variations occur more frequently in the acral subtype of melanoma than in the nonacral subtype What does this study add? 31408190 2019
CUI: C0025202
Disease: melanoma
melanoma 		0.500 GeneticVariation disease CLINVAR A meta-analysis of somatic mutations from next generation sequencing of 241 melanomas: a road map for the study of genes with potential clinical relevance. 24755198 2014
CUI: C0025202
Disease: melanoma
melanoma 		0.500 GeneticVariation disease BEFREE A single-group, open-label, phase 2 trial at 1 community and 5 academic oncology centers in the United States of 295 patients with melanoma screened for the presence of KIT mutations and amplification between April 23, 2007, and April 16, 2010. 21642685 2011