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: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.100 Biomarker group BEFREE Signaling lymphocytic activation molecule (SLAM)-associated protein (SAP) can mediate the function of SLAM molecules, which have been proposed to be involved in the development of autoimmunity in mice. 24373350 2014
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.100 GeneticVariation group BEFREE We finally speculate on the possible development of novel therapeutic treatments in human autoimmunity aiming to selectively target the variant Lyp protein in autoreactive T and B lymphocytes. 23261816 2013
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.100 GeneticVariation group BEFREE The autoimmunity risk variant LYP-W620 cooperates with CSK in the regulation of TCR signaling. 23359562 2013
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.100 Biomarker group BEFREE This article reviews the crucial role of SAP in the development of autoimmunity. 22349617 2012
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.100 GeneticVariation group BEFREE The -346T polymorphism of the SH2D1A gene is a risk factor for development of autoimmunity/lymphoproliferation in males with defective Fas function. 22425739 2012
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.100 Biomarker group BEFREE In this review we highlight the current findings on SAP-mediated signaling in hematopoietic cells and discuss its importance in autoimmune diseases and immunological disorders. 20049647 2010
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.100 AlteredExpression group BEFREE Furthermore, the Q263 variant conferred protection against human systemic lupus erythematosus, reinforcing the proposal that inhibition of LYP activity could be beneficial in human autoimmunity. 18981062 2009
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.100 GeneticVariation group BEFREE Therefore, the present study was aimed at testing the association of endometriosis with the PTPN22/LYP 1858C> T gene polymorphism, which appears to be related to the development of a variety of autoimmune disorders. 19237203 2009
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.100 Biomarker group BEFREE By using SAP as the focal point of our studies, we hope to identify novel signaling pathways that could be targeted to improve the treatment for patients with XLP as well as more common disorders, such as autoimmunity and cancer. 18815745 2008
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.100 GeneticVariation group BEFREE The 620Trp variant of the LYP protein, encoded by the lymphoid tyrosine phosphatase 22 gene (PTPN22), is associated with autoimmunity. 18299186 2008
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.100 Biomarker group BEFREE We discuss how SAP is a key player in the development of autoimmune disease. 17785286 2007
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.100 GeneticVariation group BEFREE Recently, a gain of function variant C1858T of the lymphoid-specific protein tyrosine phosphatase non-receptor (LYP, PTPN22) gene has been reported to be associated with several autoimmune disorders including Graves' disease, type 1 diabetes, rheumatoid arthritis and vitiligo. 16893384 2006
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.100 GeneticVariation group BEFREE Here, we show that SAP, encoded by the SH2D1A gene locus, also has a crucial role during the development of NKT cells, a lymphocyte subset with immunoregulatory functions in response to infection, cancer and autoimmune disease. 15711562 2005
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.100 Biomarker group BEFREE SAP-deficient animals, created by backcrossing the 129/Sv SAP gene deletion into pure line C57BL/6 mice and studied here for the first time, also spontaneously developed broad spectrum antinuclear autoimmunity and proliferative immune complex glomerulonephritis but without proteinuria, renal failure, or increased morbidity or mortality. 15147569 2004