SH2D1A, SH2 domain containing 1A, 4068

N. diseases: 160; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0021053
Disease: Immune System Diseases
Immune System Diseases
0.040 Biomarker group BEFREE Efforts to dissect the diverse roles of SAP and XIAP are enhancing our understanding of immune cell biology and defining how genetic defects in these molecules predispose to EBV-specific as well as more general cellular and humoral immune dysfunction. 21083659 2011
CUI: C0021053
Disease: Immune System Diseases
Immune System Diseases
0.040 Biomarker group BEFREE In this review, we cover recent findings on the roles of SLAM family receptors and the SAP family of adaptors, with a focus on their regulation of the pathways involved in the pathogenesis of XLP and other immune disorders. 21219180 2011
CUI: C0021053
Disease: Immune System Diseases
Immune System Diseases
0.040 AlteredExpression group LHGDN Therefore, the down-regulation of the SAP gene by ATF5 may represent a common mechanism for the pathogenesis of HPS that is associated with either Epstein-Barr virus infection or immune disorders with dysregulated T-cell activation. 18832568 2008
CUI: C0021053
Disease: Immune System Diseases
Immune System Diseases
0.040 AlteredExpression group BEFREE Therefore, the down-regulation of the SAP gene by ATF5 may represent a common mechanism for the pathogenesis of HPS that is associated with either Epstein-Barr virus infection or immune disorders with dysregulated T-cell activation. 18832568 2008
CUI: C0021053
Disease: Immune System Diseases
Immune System Diseases
0.040 Biomarker group BEFREE These findings suggest that association of SAP with 2B4 is necessary for optimal NK/lymphokine-activated killer cytotoxicity and imply that alterations in SAP/2B4 signaling contribute to the immune dysfunction observed in XLP. 11034354 2000