SH2B3, SH2B adaptor protein 3, 10019

N. diseases: 212; N. variants: 21
Disease: Thrombocythemia, Essential ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential 		0.520 GeneticVariation disease BEFREE Most recently, ASXL1, SRSF2, and IDH2 mutations have been associated with inferior overall, leukemia-free or fibrosis-free survival in PV; similarly adverse mutations in ET included SH2B3, SF3B1, U2AF1, TP53, IDH2, and EZH2. 27991718 2017
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential 		0.520 GeneticVariation disease BEFREE Missense mutations of A300V, V402M, and R415H in LNK were found in 8 patients including ET (4 cases, all combined with JAK2-V617F mutation), PV (2 cases, one combined with JAK2-V617F mutation), PMF (one case, combined with JAK2-V617F mutation) and CML (one case, combined with BCR/ABL1 fusion gene). 27111338 2016
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential 		0.520 SomaticCausalMutation disease ORPHANET The pathogenesis of essential thrombocythemia. 21825979 2011
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential 		0.520 SomaticCausalMutation disease ORPHANET New mutations and pathogenesis of myeloproliferative neoplasms. 21653328 2011
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential 		0.520 Biomarker disease CTD_human