SH2B3, SH2B adaptor protein 3, 10019

N. diseases: 212; N. variants: 21
Disease: Thrombocythemia, Essential ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs918140013
rs918140013
Entrez Id: 6311;10019
Gene Symbol: ATXN2;SH2B3
ATXN2;SH2B3
CUI: C0040028
Disease:
Thrombocythemia, Essential 		0.010 GeneticVariation 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