Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ 		0.400 Biomarker disease HPO
Entrez Id: 8314
Gene Symbol: BAP1
BAP1 		0.400 Biomarker disease HPO
Entrez Id: 8314
Gene Symbol: BAP1
BAP1 		0.400 GermlineCausalMutation disease ORPHANET Germline BAP1 mutation predisposes to uveal melanoma, lung adenocarcinoma, meningioma, and other cancers. 21941004 2011
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ 		0.400 SomaticCausalMutation disease ORPHANET Mutations in GNA11 in uveal melanoma. 21083380 2010
Entrez Id: 8314
Gene Symbol: BAP1
BAP1 		0.400 SomaticCausalMutation disease ORPHANET Frequent mutation of BAP1 in metastasizing uveal melanomas. 21051595 2010
Entrez Id: 2767
Gene Symbol: GNA11
GNA11 		0.400 Biomarker disease HPO
Entrez Id: 23451
Gene Symbol: SF3B1
SF3B1 		0.400 Biomarker disease ORPHANET SF3B1 mutations are associated with alternative splicing in uveal melanoma. 23861464 2013
Entrez Id: 2767
Gene Symbol: GNA11
GNA11 		0.400 SomaticCausalMutation disease ORPHANET Genomic, prognostic, and cell-signaling advances in uveal melanoma. 23714557 2013
Entrez Id: 57105
Gene Symbol: CYSLTR2
CYSLTR2 		0.400 Biomarker disease HPO
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ 		0.400 SomaticCausalMutation disease ORPHANET Genomic, prognostic, and cell-signaling advances in uveal melanoma. 23714557 2013
Entrez Id: 57105
Gene Symbol: CYSLTR2
CYSLTR2 		0.400 SomaticCausalMutation disease ORPHANET Recurrent activating mutations of G-protein-coupled receptor CYSLTR2 in uveal melanoma. 27089179 2016
Entrez Id: 23451
Gene Symbol: SF3B1
SF3B1 		0.400 Biomarker disease HPO
Entrez Id: 23451
Gene Symbol: SF3B1
SF3B1 		0.400 Biomarker disease ORPHANET Genomic, prognostic, and cell-signaling advances in uveal melanoma. 23714557 2013
Entrez Id: 2767
Gene Symbol: GNA11
GNA11 		0.400 SomaticCausalMutation disease ORPHANET Mutations in GNA11 in uveal melanoma. 21083380 2010
Entrez Id: 4921
Gene Symbol: DDR2
DDR2 		0.100 GeneticVariation disease GWASCAT Genome-wide study on uveal melanoma patients finds association to DNA repair gene TDP1. 31626034 2020
Entrez Id: 753
Gene Symbol: LDLRAD4
LDLRAD4 		0.100 GeneticVariation disease GWASCAT Genome-wide study on uveal melanoma patients finds association to DNA repair gene TDP1. 31626034 2020
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		0.020 GeneticVariation disease BEFREE To our knowledge, for the first time, here we report a case of choroidal melanoma harboring the BRAF mutation (V600E). 16410717 2006
Entrez Id: 7157
Gene Symbol: TP53
TP53 		0.020 AlteredExpression disease BEFREE Chromosomal abnormalities, p53 and Bcl-2 expression and clinical outcome in choroidal melanoma. 15577317 2004
Entrez Id: 7157
Gene Symbol: TP53
TP53 		0.020 GeneticVariation disease BEFREE Increased expression and mutation of p53 in choroidal melanoma. 1419633 1992
Entrez Id: 673
Gene Symbol: BRAF
BRAF 		0.020 GeneticVariation disease BEFREE We show that three cell lines (OCM-1, MKT-BR, and SP-6.5) derived from human choroidal melanoma, the most frequent primary ocular neoplasm in humans, express B-Raf containing the V599E mutation. 12917419 2003
Entrez Id: 883
Gene Symbol: KYAT1
KYAT1 		0.010 Biomarker disease BEFREE Immunohistochemistry was conducted using polyclonal antibodies against KAT I, II, and III on sections of eight enucleated eyes from patients with choroidal melanoma. 28706436 2017
Entrez Id: 5362
Gene Symbol: PLXNA2
PLXNA2 		0.010 Biomarker disease BEFREE The purpose of this paper was to evaluate whether optical coherence tomography angiography (OCT-A) can be used to quantify the vascular changes in radiation maculopathy, and changes in the tumor vasculature in eyes treated with plaque radiotherapy for choroidal melanoma. 30121646 2018
Entrez Id: 5599
Gene Symbol: MAPK8
MAPK8 		0.010 AlteredExpression disease BEFREE Cepharanthine exerts antitumor activity on choroidal melanoma by reactive oxygen species production and c-Jun N-terminal kinase activation. 28529590 2017
Entrez Id: 8520
Gene Symbol: HAT1
HAT1 		0.010 Biomarker disease BEFREE Immunohistochemistry was conducted using polyclonal antibodies against KAT I, II, and III on sections of eight enucleated eyes from patients with choroidal melanoma. 28706436 2017
Entrez Id: 4313
Gene Symbol: MMP2
MMP2 		0.010 AlteredExpression disease BEFREE Choroidal melanoma is the most common intraocular tumor in adults, and overexpression of matrix metalloproteinase-2 or matrix metalloproteinase-9 (MMP-2/MMP-9) is associated with angiogenesis and tumor metastasis of the choroidal malignant melanoma (CMM). 29260433 2018