Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23451
Gene Symbol: SF3B1
SF3B1
CUI: C0346373
Disease: Malignant melanoma of iris
Malignant melanoma of iris 		0.410 Biomarker ORPHANET Genomic, prognostic, and cell-signaling advances in uveal melanoma. 23714557

2013
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
CUI: C0346373
Disease: Malignant melanoma of iris
Malignant melanoma of iris 		0.410 SomaticCausalMutation ORPHANET Genomic, prognostic, and cell-signaling advances in uveal melanoma. 23714557

2013
Entrez Id: 2767
Gene Symbol: GNA11
GNA11
CUI: C0346373
Disease: Malignant melanoma of iris
Malignant melanoma of iris 		0.410 SomaticCausalMutation ORPHANET Genomic, prognostic, and cell-signaling advances in uveal melanoma. 23714557

2013
Entrez Id: 23451
Gene Symbol: SF3B1
SF3B1
CUI: C0346373
Disease: Malignant melanoma of iris
Malignant melanoma of iris 		0.410 Biomarker ORPHANET SF3B1 mutations are associated with alternative splicing in uveal melanoma. 23861464

2013
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C0346373
Disease: Malignant melanoma of iris
Malignant melanoma of iris 		0.410 GermlineCausalMutation ORPHANET Germline BAP1 mutation predisposes to uveal melanoma, lung adenocarcinoma, meningioma, and other cancers. 21941004

2011
Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
CUI: C0346373
Disease: Malignant melanoma of iris
Malignant melanoma of iris 		0.410 SomaticCausalMutation ORPHANET Mutations in GNA11 in uveal melanoma. 21083380

2010
Entrez Id: 2767
Gene Symbol: GNA11
GNA11
CUI: C0346373
Disease: Malignant melanoma of iris
Malignant melanoma of iris 		0.410 SomaticCausalMutation ORPHANET Mutations in GNA11 in uveal melanoma. 21083380

2010
Entrez Id: 8314
Gene Symbol: BAP1
BAP1
CUI: C0346373
Disease: Malignant melanoma of iris
Malignant melanoma of iris 		0.410 SomaticCausalMutation ORPHANET Frequent mutation of BAP1 in metastasizing uveal melanomas. 21051595

2010
Entrez Id: 57105
Gene Symbol: CYSLTR2
CYSLTR2
CUI: C0346373
Disease: Malignant melanoma of iris
Malignant melanoma of iris 		0.400 SomaticCausalMutation ORPHANET Recurrent activating mutations of G-protein-coupled receptor CYSLTR2 in uveal melanoma. 27089179

2016