SH2B2, SH2B adaptor protein 2, 10603

N. diseases: 59; N. variants: 1
Disease: Thrombocytopenia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.020 Biomarker phenotype BEFREE While clusters 1, 2, 3 and 5 corresponded to well-known entities, cluster 4 might represent a bridging condition between pure primary APS and defined SLE, with lower thrombotic risk when compared with primary APS but higher general features such as ANA and cytopenia (mainly thrombocytopenia). 31840749 2019
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.020 GeneticVariation phenotype BEFREE Other non-thrombotic APS manifestations were chronic ulcers in lower extremities and severe thrombocytopenia. 28216071 2017