Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2767
Gene Symbol: GNA11
GNA11
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		0.800 SomaticCausalMutation ORPHANET Genomic, prognostic, and cell-signaling advances in uveal melanoma. 23714557

2013
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		0.800 SomaticCausalMutation ORPHANET Genomic, prognostic, and cell-signaling advances in uveal melanoma. 23714557

2013
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		0.800 GermlineCausalMutation ORPHANET The results indicate that BAP1 is the candidate gene in only a small subset of hereditary UM, suggesting the contribution of other candidate genes. 21941004

2011
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		0.800 SomaticCausalMutation ORPHANET These findings implicate loss of BAP1 in uveal melanoma metastasis and suggest that the BAP1 pathway may be a valuable therapeutic target. 21051595

2010
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		0.800 SomaticCausalMutation ORPHANET In contrast, we observed Q209 mutations in GNAQ in 55% of blue nevi, 45% of uveal melanomas, and 22% of uveal melanoma metastases. 21083380

2010
Entrez Id: 2767
Gene Symbol: GNA11
GNA11
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		0.800 SomaticCausalMutation ORPHANET Mutations affecting Q209 in GNA11 were present in 7% of blue nevi, 32% of primary uveal melanomas, and 57% of uveal melanoma metastases. 21083380

2010
Entrez Id: 23451
Gene Symbol: SF3B1
SF3B1
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		0.600 Biomarker ORPHANET Genomic, prognostic, and cell-signaling advances in uveal melanoma. 23714557

2013
Entrez Id: 23451
Gene Symbol: SF3B1
SF3B1
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		0.600 Biomarker ORPHANET We show that SF3B1 is recurrently mutated in uveal melanoma, and the mutations are associated with aberrant alternative splicing. 23861464

2013
Entrez Id: 57105
Gene Symbol: CYSLTR2
CYSLTR2
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		0.530 SomaticCausalMutation ORPHANET Our findings implicate CYSLTR2 as a uveal melanoma oncogene and highlight the critical role of Gαq signaling in uveal melanoma pathogenesis. 27089179

2016