SF3B1, splicing factor 3b subunit 1, 23451

N. diseases: 200; N. variants: 11
Disease: Cutaneous Melanoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.140 AlteredExpression disease BEFREE In contrast, SF3B1 and KIT have higher mutation rate in mucosal melanoma as compared to cutaneous melanoma. 31655118 2020
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.140 GeneticVariation disease BEFREE Our finding that an SF3B1 or EIF1AX mutation is present in a substantial subset of primary LMNs underscores that these tumors genetically resemble uveal melanoma and are different from cutaneous melanoma at the genetic level. 26769193 2016
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.140 GeneticVariation disease CLINVAR Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. 26619011 2016
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.140 GeneticVariation disease BEFREE Rare SF3B1 R625 mutations in cutaneous melanoma. 24709888 2014
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.140 GeneticVariation disease BEFREE Lack of SF3B1 R625 mutations in cutaneous melanoma. 23694694 2013