Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.500 CausalMutation disease CGI
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.500 GeneticVariation disease BEFREE Cutaneous malignant melanoma is the leading cause of death from skin diseases and is often associated with activating mutations of the proto-oncogene BRAF. 25174976 2015
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.500 GeneticVariation disease BEFREE BRAF mutations have recently been detected with a high frequency (66%) in cutaneous melanoma. 14501284 2003
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.500 GeneticVariation disease BEFREE BRAF mutations in cutaneous melanoma are independently associated with age, anatomic site of the primary tumor, and the degree of solar elastosis at the primary tumor site. 21324100 2011
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.500 GeneticVariation disease BEFREE BRAF(V600E) is the most common mutation in cutaneous melanoma and has become the target of treatment for patients with metastatic melanoma. 23211290 2013
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.500 GeneticVariation disease BEFREE BRAF mutation is seen in a variety of human neoplasms including cutaneous malignant melanoma, papillary thyroid carcinoma, colorectal carcinoma, non-small cell lung carcinoma, pleomorphic xanthoastrocytoma, and others. 24071017 2013
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.500 GeneticVariation disease BEFREE BRAF mutations are present in 40% of human skin melanomas. 26141748 2015
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.500 Biomarker disease BEFREE BRAF and Epithelial-Mesenchymal Transition: Lessons From Papillary Thyroid Carcinoma and Primary Cutaneous Melanoma. 27145091 2016
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.500 Biomarker disease BEFREE BRAF inhibitors substantially have impressive clinical efficacy in cutaneous melanoma. 28485171 2019
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.500 Biomarker disease BEFREE BRAF and MEK inhibitors have demonstrated significant survival benefits for patients with cutaneous melanoma. 30205280 2018
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.500 GeneticVariation disease BEFREE BRAF is the most frequently mutated gene in skin melanoma. 30347273 2018
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.500 GeneticVariation disease BEFREE BRAF inhibitors target the BRAF-V600E/K mutated kinase, the driver mutation found in 50% of cutaneous melanoma. 30429474 2018
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.500 GeneticVariation disease BEFREE A set of 250 probes representing 209 genes that were significantly (raw P< or =0.001) associated with BRAF mutation status was identified and 17 of these were previously shown to be implicated in cutaneous melanoma progression or pigmentation pathway-associated genes driven by the microphthalmia transcription factor (MITF). 19383316 2008
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.500 GeneticVariation disease BEFREE A total of 46 adult lymph node-positive primary skin melanoma patients (23 BRAF-mutant and 23 BRAF-wild) with available information on the mutational status of the oncogene BRAF V600E were included in the analysis. 30997532 2019
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.500 GeneticVariation disease BEFREE Absence of BRAF gene mutation in non-melanoma skin tumors. 16687919 2006
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.500 GeneticVariation disease BEFREE According to clinical trials, BRAF kinase inhibitors in combination with MEK kinase inhibitors are among the most promising chemotherapy regimens for the treatment of advanced BRAF-mutant melanoma, though the rate of BRAF mutation gene-bearing cutaneous melanoma is limited, especially in the Asian population. 31514399 2019
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.500 GeneticVariation disease BEFREE Additionally, an analysis of the correlation network reconstructed using TCGA-SKCM emphasized KMO and KYNU with high variability among BRAF wild-type compared with V600E, which underscored their role in distinct CD4+ T-cell behavior in tumour immunity. 31434983 2019
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.500 GeneticVariation disease BEFREE Among 41 response-evaluable patients, 2 (5 %) patients with cutaneous melanoma (one with BRAF L597R mutant melanoma) had partial responses. 27650277 2017
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.500 GeneticVariation disease BEFREE An activating mutation has been recently observed in cutaneous melanoma in a downstream component of RAS-BRAF. 15179189 2004
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.500 GeneticVariation disease BEFREE Aquaporin 1 protein expression is associated with BRAF V600 mutation and adverse prognosis in cutaneous melanoma. 26848795 2016
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.500 AlteredExpression disease BEFREE Archived consecutive samples (n=107) of primary cutaneous melanoma were retrieved and assessed for the following: CXCR4 mRNA (semiquantitative RT-PCR) and BRAF exon 15 status (DNA Sanger sequencing). 25211166 2014
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.500 GeneticVariation disease BEFREE As the current knowledge about pathogenesis, clinical and genetic features of cutaneous melanoma is not very clear, we aim to use bioinformatics to identify the potential key genes involved in the expression and mutation status of BRAF. 30925905 2019
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.500 Biomarker disease BEFREE Association between dermoscopic and reflectance confocal microscopy features of cutaneous melanoma with BRAF mutational status. 27790766 2017
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.500 GeneticVariation disease BEFREE Because the Mitogen-Activated Protein Kinase (MAPK) pathway plays such a significant role in melanoma development, we explore v-raf murine sarcoma viral oncogene homolog B (<i>BRAF)</i> and neuroblastoma RAS viral oncogene homolog (<i>NRAS)</i> mutations in mucosal melanoma and compare them to the mutation profiles in cutaneous melanoma and other tumors with <i>BRAF</i> and <i>NRAS</i> mutations. 31398831 2019
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.500 GeneticVariation disease BEFREE Coexistence of TERT promoter and BRAF mutations in cutaneous melanoma is associated with more clinicopathological features of aggressiveness. 26055532 2015