STAG2, stromal antigen 2, 10735

N. diseases: 132; N. variants: 8
Disease: X-Linked Lymphoproliferative Disorder ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0549463
Disease: X-Linked Lymphoproliferative Disorder
X-Linked Lymphoproliferative Disorder 		0.100 CausalMutation disease CLINVAR Comparison of Th1/Th2 cytokine profiles between primary and secondary haemophagocytic lymphohistiocytosis. 27209435 2016
CUI: C0549463
Disease: X-Linked Lymphoproliferative Disorder
X-Linked Lymphoproliferative Disorder 		0.100 CausalMutation disease CLINVAR Diagnosing XLP1 in patients with hemophagocytic lymphohistiocytosis. 24985396 2014
CUI: C0549463
Disease: X-Linked Lymphoproliferative Disorder
X-Linked Lymphoproliferative Disorder 		0.100 CausalMutation disease CLINVAR Expansion of somatically reverted memory CD8+ T cells in patients with X-linked lymphoproliferative disease caused by selective pressure from Epstein-Barr virus. 22493517 2012
CUI: C0549463
Disease: X-Linked Lymphoproliferative Disorder
X-Linked Lymphoproliferative Disorder 		0.100 CausalMutation disease CLINVAR Reduced-intensity conditioning haematopoietic cell transplantation for haemophagocytic lymphohistiocytosis: an important step forward. 21707584 2011
CUI: C0549463
Disease: X-Linked Lymphoproliferative Disorder
X-Linked Lymphoproliferative Disorder 		0.100 CausalMutation disease CLINVAR Molecular and cellular pathogenesis of X-linked lymphoproliferative disease. 15661030 2005
CUI: C0549463
Disease: X-Linked Lymphoproliferative Disorder
X-Linked Lymphoproliferative Disorder 		0.100 CausalMutation disease CLINVAR Allogeneic stem cell transplantation in X-linked lymphoproliferative disease: two cases in one family and review of the literature. 15908972 2005
CUI: C0549463
Disease: X-Linked Lymphoproliferative Disorder
X-Linked Lymphoproliferative Disorder 		0.100 CausalMutation disease CLINVAR Persistent hypogammaglobulinemia following mononucleosis in boys is highly suggestive of X-linked lymphoproliferative disease--report of three cases. 15359110 2004
CUI: C0549463
Disease: X-Linked Lymphoproliferative Disorder
X-Linked Lymphoproliferative Disorder 		0.100 CausalMutation disease CLINVAR Fatal hemophagocytic lymphohistiocytosis associated with Epstein-Barr virus infection in a patient with a novel mutation in the signaling lymphocytic activation molecule-associated protein. 14583885 2003
CUI: C0549463
Disease: X-Linked Lymphoproliferative Disorder
X-Linked Lymphoproliferative Disorder 		0.100 CausalMutation disease CLINVAR Analysis of SH2D1A mutations in patients with severe Epstein-Barr virus infections, Burkitt's lymphoma, and Hodgkin's lymphoma. 12224001 2002
CUI: C0549463
Disease: X-Linked Lymphoproliferative Disorder
X-Linked Lymphoproliferative Disorder 		0.100 CausalMutation disease CLINVAR SH2D1A mutations in Japanese males with severe Epstein-Barr virus--associated illnesses. 11493483 2001
CUI: C0549463
Disease: X-Linked Lymphoproliferative Disorder
X-Linked Lymphoproliferative Disorder 		0.100 CausalMutation disease CLINVAR Distinct interactions of the X-linked lymphoproliferative syndrome gene product SAP with cytoplasmic domains of members of the CD2 receptor family. 11414741 2001
CUI: C0549463
Disease: X-Linked Lymphoproliferative Disorder
X-Linked Lymphoproliferative Disorder 		0.100 CausalMutation disease CLINVAR Hemophagocytic lymphohistiocytosis due to germline mutations in SH2D1A, the X-linked lymphoproliferative disease gene. 11159547 2001
CUI: C0549463
Disease: X-Linked Lymphoproliferative Disorder
X-Linked Lymphoproliferative Disorder 		0.100 CausalMutation disease CLINVAR X-linked lymphoproliferative disease. 2B4 molecules displaying inhibitory rather than activating function are responsible for the inability of natural killer cells to kill Epstein-Barr virus-infected cells. 10934222 2000
CUI: C0549463
Disease: X-Linked Lymphoproliferative Disorder
X-Linked Lymphoproliferative Disorder 		0.100 CausalMutation disease CLINVAR Structural basis for SH2D1A mutations in X-linked lymphoproliferative disease. 10694488 2000
CUI: C0549463
Disease: X-Linked Lymphoproliferative Disorder
X-Linked Lymphoproliferative Disorder 		0.100 CausalMutation disease CLINVAR SH2D1A mutation analysis for diagnosis of XLP in typical and atypical patients. 10598819 1999
CUI: C0549463
Disease: X-Linked Lymphoproliferative Disorder
X-Linked Lymphoproliferative Disorder 		0.100 CausalMutation disease CLINVAR Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene. 9771704 1998
CUI: C0549463
Disease: X-Linked Lymphoproliferative Disorder
X-Linked Lymphoproliferative Disorder 		0.100 CausalMutation disease CLINVAR Inactivating mutations in an SH2 domain-encoding gene in X-linked lymphoproliferative syndrome. 9811875 1998