STAG2, stromal antigen 2, 10735

N. diseases: 132; N. variants: 8
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111033623
rs111033623
Entrez Id: 4068;10735
Gene Symbol: SH2D1A;STAG2
SH2D1A;STAG2
CUI: C0549463
Disease:
X-Linked Lymphoproliferative Disorder 		0.710 GeneticVariation BEFREE HSCT is the only curative therapy for XLP and this therapy should be urgently considered.What is Known:• SAP and XIAP deficiencies share common clinical feature, HLH, whereas they also have their own specific manifestations.• IBD affects 25-30% of XIAP-deficient patients, which has been reported in other countries especially in European country and Japan.What is New:• This is the largest patient cohort study of XLP in China.• We firstly summarized the clinical features and outcomes of Chinese XIAP-deficient patients and found only 1 in 22 patients developed IBD and diet background may contribute to it; Asian SAP-deficient patients carrying SH2D1A R55X mutation were more prone to HLH. 31754776 2020
dbSNP: rs111033623
rs111033623
Entrez Id: 4068;10735
Gene Symbol: SH2D1A;STAG2
SH2D1A;STAG2
CUI: C0549463
Disease:
X-Linked Lymphoproliferative Disorder 		T 0.710 CausalMutation CLINVAR Comparison of Th1/Th2 cytokine profiles between primary and secondary haemophagocytic lymphohistiocytosis. 27209435 2016
dbSNP: rs111033623
rs111033623
Entrez Id: 4068;10735
Gene Symbol: SH2D1A;STAG2
SH2D1A;STAG2
CUI: C0549463
Disease:
X-Linked Lymphoproliferative Disorder 		T 0.710 CausalMutation CLINVAR Diagnosing XLP1 in patients with hemophagocytic lymphohistiocytosis. 24985396 2014
dbSNP: rs111033623
rs111033623
Entrez Id: 4068;10735
Gene Symbol: SH2D1A;STAG2
SH2D1A;STAG2
CUI: C0549463
Disease:
X-Linked Lymphoproliferative Disorder 		T 0.710 CausalMutation 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
dbSNP: rs111033623
rs111033623
Entrez Id: 4068;10735
Gene Symbol: SH2D1A;STAG2
SH2D1A;STAG2
CUI: C0549463
Disease:
X-Linked Lymphoproliferative Disorder 		T 0.710 CausalMutation CLINVAR Reduced-intensity conditioning haematopoietic cell transplantation for haemophagocytic lymphohistiocytosis: an important step forward. 21707584 2011
dbSNP: rs111033623
rs111033623
Entrez Id: 4068;10735
Gene Symbol: SH2D1A;STAG2
SH2D1A;STAG2
CUI: C0549463
Disease:
X-Linked Lymphoproliferative Disorder 		T 0.710 CausalMutation CLINVAR Allogeneic stem cell transplantation in X-linked lymphoproliferative disease: two cases in one family and review of the literature. 15908972 2005
dbSNP: rs111033623
rs111033623
Entrez Id: 4068;10735
Gene Symbol: SH2D1A;STAG2
SH2D1A;STAG2
CUI: C0549463
Disease:
X-Linked Lymphoproliferative Disorder 		T 0.710 CausalMutation CLINVAR Molecular and cellular pathogenesis of X-linked lymphoproliferative disease. 15661030 2005
dbSNP: rs111033623
rs111033623
Entrez Id: 4068;10735
Gene Symbol: SH2D1A;STAG2
SH2D1A;STAG2
CUI: C0549463
Disease:
X-Linked Lymphoproliferative Disorder 		T 0.710 CausalMutation CLINVAR Persistent hypogammaglobulinemia following mononucleosis in boys is highly suggestive of X-linked lymphoproliferative disease--report of three cases. 15359110 2004
dbSNP: rs111033623
rs111033623
Entrez Id: 4068;10735
Gene Symbol: SH2D1A;STAG2
SH2D1A;STAG2
CUI: C0549463
Disease:
X-Linked Lymphoproliferative Disorder 		T 0.710 CausalMutation 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
dbSNP: rs111033623
rs111033623
Entrez Id: 4068;10735
Gene Symbol: SH2D1A;STAG2
SH2D1A;STAG2
CUI: C0549463
Disease:
X-Linked Lymphoproliferative Disorder 		T 0.710 CausalMutation CLINVAR Analysis of SH2D1A mutations in patients with severe Epstein-Barr virus infections, Burkitt's lymphoma, and Hodgkin's lymphoma. 12224001 2002
dbSNP: rs111033623
rs111033623
Entrez Id: 4068;10735
Gene Symbol: SH2D1A;STAG2
SH2D1A;STAG2
CUI: C0549463
Disease:
X-Linked Lymphoproliferative Disorder 		T 0.710 CausalMutation CLINVAR Distinct interactions of the X-linked lymphoproliferative syndrome gene product SAP with cytoplasmic domains of members of the CD2 receptor family. 11414741 2001
dbSNP: rs111033623
rs111033623
Entrez Id: 4068;10735
Gene Symbol: SH2D1A;STAG2
SH2D1A;STAG2
CUI: C0549463
Disease:
X-Linked Lymphoproliferative Disorder 		T 0.710 CausalMutation CLINVAR SH2D1A mutations in Japanese males with severe Epstein-Barr virus--associated illnesses. 11493483 2001
dbSNP: rs111033623
rs111033623
Entrez Id: 4068;10735
Gene Symbol: SH2D1A;STAG2
SH2D1A;STAG2
CUI: C0549463
Disease:
X-Linked Lymphoproliferative Disorder 		T 0.710 CausalMutation CLINVAR Hemophagocytic lymphohistiocytosis due to germline mutations in SH2D1A, the X-linked lymphoproliferative disease gene. 11159547 2001
dbSNP: rs111033623
rs111033623
Entrez Id: 4068;10735
Gene Symbol: SH2D1A;STAG2
SH2D1A;STAG2
CUI: C0549463
Disease:
X-Linked Lymphoproliferative Disorder 		T 0.710 CausalMutation CLINVAR Structural basis for SH2D1A mutations in X-linked lymphoproliferative disease. 10694488 2000
dbSNP: rs111033623
rs111033623
Entrez Id: 4068;10735
Gene Symbol: SH2D1A;STAG2
SH2D1A;STAG2
CUI: C0549463
Disease:
X-Linked Lymphoproliferative Disorder 		T 0.710 CausalMutation 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
dbSNP: rs111033623
rs111033623
Entrez Id: 4068;10735
Gene Symbol: SH2D1A;STAG2
SH2D1A;STAG2
CUI: C0549463
Disease:
X-Linked Lymphoproliferative Disorder 		T 0.710 CausalMutation CLINVAR SH2D1A mutation analysis for diagnosis of XLP in typical and atypical patients. 10598819 1999
dbSNP: rs111033623
rs111033623
Entrez Id: 4068;10735
Gene Symbol: SH2D1A;STAG2
SH2D1A;STAG2
CUI: C0549463
Disease:
X-Linked Lymphoproliferative Disorder 		T 0.710 CausalMutation CLINVAR Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene. 9771704 1998
dbSNP: rs111033623
rs111033623
Entrez Id: 4068;10735
Gene Symbol: SH2D1A;STAG2
SH2D1A;STAG2
CUI: C0549463
Disease:
X-Linked Lymphoproliferative Disorder 		T 0.710 CausalMutation CLINVAR Inactivating mutations in an SH2 domain-encoding gene in X-linked lymphoproliferative syndrome. 9811875 1998
dbSNP: rs111033624
rs111033624
Entrez Id: 4068;10735
Gene Symbol: SH2D1A;STAG2
SH2D1A;STAG2
CUI: C0549463
Disease:
X-Linked Lymphoproliferative Disorder 		0.700 GeneticVariation UNIPROT Missense mutations in SH2D1A identified in patients with X-linked lymphoproliferative disease differentially affect the expression and function of SAP. 16720617 2006
dbSNP: rs111033626
rs111033626
Entrez Id: 4068;10735
Gene Symbol: SH2D1A;STAG2
SH2D1A;STAG2
CUI: C0549463
Disease:
X-Linked Lymphoproliferative Disorder 		0.700 GeneticVariation UNIPROT Missense mutations in SH2D1A identified in patients with X-linked lymphoproliferative disease differentially affect the expression and function of SAP. 16720617 2006
dbSNP: rs111033627
rs111033627
Entrez Id: 4068;10735
Gene Symbol: SH2D1A;STAG2
SH2D1A;STAG2
CUI: C0549463
Disease:
X-Linked Lymphoproliferative Disorder 		0.700 GeneticVariation UNIPROT Missense mutations in SH2D1A identified in patients with X-linked lymphoproliferative disease differentially affect the expression and function of SAP. 16720617 2006
dbSNP: rs111033630
rs111033630
Entrez Id: 4068;10735
Gene Symbol: SH2D1A;STAG2
SH2D1A;STAG2
CUI: C0549463
Disease:
X-Linked Lymphoproliferative Disorder 		0.700 GeneticVariation UNIPROT Missense mutations in SH2D1A identified in patients with X-linked lymphoproliferative disease differentially affect the expression and function of SAP. 16720617 2006
dbSNP: rs111033624
rs111033624
Entrez Id: 4068;10735
Gene Symbol: SH2D1A;STAG2
SH2D1A;STAG2
CUI: C0549463
Disease:
X-Linked Lymphoproliferative Disorder 		0.700 GeneticVariation UNIPROT Characterization of a new disease-causing mutation of SH2D1A in a family with X-linked lymphoproliferative disease. 15841490 2005
dbSNP: rs111033626
rs111033626
Entrez Id: 4068;10735
Gene Symbol: SH2D1A;STAG2
SH2D1A;STAG2
CUI: C0549463
Disease:
X-Linked Lymphoproliferative Disorder 		0.700 GeneticVariation UNIPROT Characterization of a new disease-causing mutation of SH2D1A in a family with X-linked lymphoproliferative disease. 15841490 2005
dbSNP: rs111033627
rs111033627
Entrez Id: 4068;10735
Gene Symbol: SH2D1A;STAG2
SH2D1A;STAG2
CUI: C0549463
Disease:
X-Linked Lymphoproliferative Disorder 		0.700 GeneticVariation UNIPROT Characterization of a new disease-causing mutation of SH2D1A in a family with X-linked lymphoproliferative disease. 15841490 2005