SH2D1A, SH2 domain containing 1A, 4068

N. diseases: 160; N. variants: 8
Disease: Autoimmune Lymphoproliferative Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1328840
Disease: Autoimmune Lymphoproliferative Syndrome
Autoimmune Lymphoproliferative Syndrome 		0.010 AlteredExpression disease BEFREE These data suggest that -346T is a predisposing factor for ALPS and DALD in males possibly because of its effect on SAP expression influencing the T-cell response. 22425739 2012