Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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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 |
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0.700 | GeneticVariation | UNIPROT | Characterization of a new disease-causing mutation of SH2D1A in a family with X-linked lymphoproliferative disease. | 15841490 | 2005 |
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0.700 | GeneticVariation | UNIPROT | Disease-causing SAP mutants are defective in ligand binding and protein folding. | 14674764 | 2003 |
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0.700 | GeneticVariation | UNIPROT | Dual functional roles for the X-linked lymphoproliferative syndrome gene product SAP/SH2D1A in signaling through the signaling lymphocyte activation molecule (SLAM) family of immune receptors. | 12458214 | 2003 |
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0.700 | GeneticVariation | UNIPROT | "A ""three-pronged"" binding mechanism for the SAP/SH2D1A SH2 domain: structural basis and relevance to the XLP syndrome." | 11823424 | 2002 |
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0.700 | GeneticVariation | UNIPROT | Characterization of SH2D1A missense mutations identified in X-linked lymphoproliferative disease patients. | 11477068 | 2001 |
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0.700 | GeneticVariation | UNIPROT | SH2D1A mutations in Japanese males with severe Epstein-Barr virus--associated illnesses. | 11493483 | 2001 |
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0.700 | GeneticVariation | UNIPROT | Correlation of mutations of the SH2D1A gene and epstein-barr virus infection with clinical phenotype and outcome in X-linked lymphoproliferative disease. | 11049992 | 2000 |
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0.700 | GeneticVariation | UNIPROT | Defective NK cell activation in X-linked lymphoproliferative disease. | 11034354 | 2000 |
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0.700 | GeneticVariation | UNIPROT | SH2D1A mutation analysis for diagnosis of XLP in typical and atypical patients. | 10598819 | 1999 |
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0.700 | GeneticVariation | UNIPROT | Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene. | 9771704 | 1998 |