Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0346360
Disease: Malignant melanoma of conjunctiva
Malignant melanoma of conjunctiva
0.100 GeneticVariation disease BEFREE Dermatologists should be familiar with BRAF-mutated conjunctival melanoma, which is usually located on the bulbar conjunctiva and associated with more frequent distant metastasis. 31361915 2020
CUI: C0346360
Disease: Malignant melanoma of conjunctiva
Malignant melanoma of conjunctiva
0.100 GeneticVariation disease BEFREE Herein, we report a case of a 70-years old patient with a metastatic conjunctival melanoma harboring V600E BRAF mutation successfully treated with dabrafenib and trametinib. 31024839 2019
CUI: C0346360
Disease: Malignant melanoma of conjunctiva
Malignant melanoma of conjunctiva
0.100 GeneticVariation disease BEFREE A BRAF V600E mutation was detected in 42.6% of nevi and in 35.5% of CJM. 31247083 2019
CUI: C0346360
Disease: Malignant melanoma of conjunctiva
Malignant melanoma of conjunctiva
0.100 GeneticVariation disease BEFREE Conjunctival melanoma requires investigation into the BRAF mutation in the case of a locally advanced tumor. 31418658 2019
CUI: C0346360
Disease: Malignant melanoma of conjunctiva
Malignant melanoma of conjunctiva
0.100 Biomarker disease BEFREE Conjunctival Melanoma Responsive to Combined Systemic BRAF/MEK Inhibitors. 27893585 2017
CUI: C0346360
Disease: Malignant melanoma of conjunctiva
Malignant melanoma of conjunctiva
0.100 Biomarker disease BEFREE Both BRAF inhibitors suppressed growth of both <i>BRAF</i> mutant CM cell lines, but only one induced cell death. 28938534 2017
CUI: C0346360
Disease: Malignant melanoma of conjunctiva
Malignant melanoma of conjunctiva
0.100 GeneticVariation disease BEFREE A further aim was to determine the prevalence of BRAF mutations in conjunctival melanoma, to determine whether BRAF mutations are early events in pathogenesis, and relate clinicopathological features and prognosis to BRAF-mutation status. 27192168 2016
CUI: C0346360
Disease: Malignant melanoma of conjunctiva
Malignant melanoma of conjunctiva
0.100 GeneticVariation disease BEFREE BRAF mutations were identified as early events in conjunctival melanoma, associated with a distinct clinicopathological profile, similar to BRAF-mutated cutaneous melanoma. 27009410 2016
CUI: C0346360
Disease: Malignant melanoma of conjunctiva
Malignant melanoma of conjunctiva
0.100 GeneticVariation disease BEFREE Clinicopathological characteristics of BRAF-mutated CM have not been studied thoroughly. 26425792 2015
CUI: C0346360
Disease: Malignant melanoma of conjunctiva
Malignant melanoma of conjunctiva
0.100 Biomarker disease BEFREE Cytotoxicity, cell viability, proliferation, apoptosis rate and phosphorylation rate of ERK and Akt were analysed in three different conjunctival melanoma cell lines under the influence of the B-Raf inhibitor PLX 4720 at various concentrations. 26347528 2015
CUI: C0346360
Disease: Malignant melanoma of conjunctiva
Malignant melanoma of conjunctiva
0.100 GeneticVariation disease BEFREE The presence of NRAS or BRAF mutations in a mutually exclusive pattern in roughly half (47%) of conjunctival melanomas and the pattern of CNAs argue for conjunctival melanoma being closely related to cutaneous and mucosal melanoma but entirely distinct from uveal melanoma. 23633454 2013
CUI: C0346360
Disease: Malignant melanoma of conjunctiva
Malignant melanoma of conjunctiva
0.100 GeneticVariation disease BEFREE Multiplex ligation-dependent probe amplification of conjunctival melanoma reveals common BRAF V600E gene mutation and gene copy number changes. 21693616 2011
CUI: C0346360
Disease: Malignant melanoma of conjunctiva
Malignant melanoma of conjunctiva
0.100 GeneticVariation disease BEFREE To gain a better understanding of the molecular events leading to the development of conjunctival melanocytic lesions and conjunctival melanoma, this study was conducted to investigate the presence of T1799A BRAF oncogenic mutation in these lesions. 16123397 2005
CUI: C0346360
Disease: Malignant melanoma of conjunctiva
Malignant melanoma of conjunctiva
0.100 GeneticVariation disease BEFREE The purpose of this study was to determine whether the T1799A BRAF mutation found in cutaneous melanoma is also present in conjunctival melanoma. 15277467 2004