SH2D1A, SH2 domain containing 1A, 4068

N. diseases: 160; N. variants: 8
Disease: Immunodeficiency following hereditary defective response to Epstein-Barr virus ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0451697
Disease: Immunodeficiency following hereditary defective response to Epstein-Barr virus
Immunodeficiency following hereditary defective response to Epstein-Barr virus 		0.200 Biomarker phenotype MGD SAP expression in invariant NKT cells is required for cognate help to support B-cell responses. 22613797 2012
CUI: C0451697
Disease: Immunodeficiency following hereditary defective response to Epstein-Barr virus
Immunodeficiency following hereditary defective response to Epstein-Barr virus 		0.200 Biomarker phenotype MGD Defective B cell responses in the absence of SH2D1A. 15774582 2005
CUI: C0451697
Disease: Immunodeficiency following hereditary defective response to Epstein-Barr virus
Immunodeficiency following hereditary defective response to Epstein-Barr virus 		0.200 Biomarker phenotype MGD Signaling lymphocytic activation molecule-associated protein controls NKT cell functions. 15749842 2005
CUI: C0451697
Disease: Immunodeficiency following hereditary defective response to Epstein-Barr virus
Immunodeficiency following hereditary defective response to Epstein-Barr virus 		0.200 Biomarker phenotype MGD Mice deficient in the X-linked lymphoproliferative disease gene sap exhibit increased susceptibility to murine gammaherpesvirus-68 and hypo-gammaglobulinemia. 12966553 2003
CUI: C0451697
Disease: Immunodeficiency following hereditary defective response to Epstein-Barr virus
Immunodeficiency following hereditary defective response to Epstein-Barr virus 		0.200 Biomarker phenotype MGD SAP controls T cell responses to virus and terminal differentiation of TH2 cells. 11323694 2001
CUI: C0451697
Disease: Immunodeficiency following hereditary defective response to Epstein-Barr virus
Immunodeficiency following hereditary defective response to Epstein-Barr virus 		0.200 Biomarker phenotype MGD Altered lymphocyte responses and cytokine production in mice deficient in the X-linked lymphoproliferative disease gene SH2D1A/DSHP/SAP. 11404475 2001