Source: ANIMAL_MODELS

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4068
Gene Symbol: SH2D1A
SH2D1A
CUI: C0549463
Disease: X-Linked Lymphoproliferative Disorder
X-Linked Lymphoproliferative Disorder 		1.000 Biomarker MGD One of the manifestations of X-linked lymphoproliferative disease (XLP) is progressive agammaglobulinemia, caused by the absence of a functional signaling lymphocyte activation molecule (SLAM)-associated protein (SAP) in T, invariant natural killer T (NKT) cells and NK cells. 22613797

2012
Entrez Id: 4068
Gene Symbol: SH2D1A
SH2D1A
CUI: C0549463
Disease: X-Linked Lymphoproliferative Disorder
X-Linked Lymphoproliferative Disorder 		1.000 Biomarker MGD Defective B cell responses in the absence of SH2D1A. 15774582

2005
Entrez Id: 4068
Gene Symbol: SH2D1A
SH2D1A
CUI: C0549463
Disease: X-Linked Lymphoproliferative Disorder
X-Linked Lymphoproliferative Disorder 		1.000 Biomarker MGD We have observed that SAP knockout (SAPKO) mice and humans with XLP have a complete lack of CD1d-restricted NKT cells. 15749842

2005
Entrez Id: 4068
Gene Symbol: SH2D1A
SH2D1A
CUI: C0549463
Disease: X-Linked Lymphoproliferative Disorder
X-Linked Lymphoproliferative Disorder 		1.000 Biomarker MGD To delineate the role of SAP in the pathophysiology of X-linked lymphoproliferative disease, a strain of sap-deficient mice has been generated by deleting exon 2 of the gene. 12966553

2003
Entrez Id: 4068
Gene Symbol: SH2D1A
SH2D1A
CUI: C0549463
Disease: X-Linked Lymphoproliferative Disorder
X-Linked Lymphoproliferative Disorder 		1.000 Biomarker MGD The aberrant immune responses in SAP-deficient mice show that SAP controls several distinct key T cell signal transduction pathways, which explains in part the complexity of the XLP phenotypes. 11323694

2001
Entrez Id: 4068
Gene Symbol: SH2D1A
SH2D1A
CUI: C0549463
Disease: X-Linked Lymphoproliferative Disorder
X-Linked Lymphoproliferative Disorder 		1.000 Biomarker MGD Altered lymphocyte responses and cytokine production in mice deficient in the X-linked lymphoproliferative disease gene SH2D1A/DSHP/SAP. 11404475

2001