SF3B1, splicing factor 3b subunit 1, 23451

N. diseases: 200; N. variants: 11
Disease: Malignant melanoma of iris ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0346373
Disease: Malignant melanoma of iris
Malignant melanoma of iris 		0.410 GeneticVariation disease BEFREE Furthermore, 13 of 30 BAP1, 5 of 30 EIF1AX, and 2 of 30 SF3B1 mutations were identified in iris melanoma. 29371009 2018
CUI: C0346373
Disease: Malignant melanoma of iris
Malignant melanoma of iris 		0.410 Biomarker disease ORPHANET Genomic, prognostic, and cell-signaling advances in uveal melanoma. 23714557 2013
CUI: C0346373
Disease: Malignant melanoma of iris
Malignant melanoma of iris 		0.410 Biomarker disease ORPHANET SF3B1 mutations are associated with alternative splicing in uveal melanoma. 23861464 2013
CUI: C0346373
Disease: Malignant melanoma of iris
Malignant melanoma of iris 		0.410 Biomarker disease HPO