SERPINA4, serpin family A member 4, 5267

N. diseases: 45; N. variants: 3
Disease: X-Linked Lymphoproliferative Disorder ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0549463
Disease: X-Linked Lymphoproliferative Disorder
X-Linked Lymphoproliferative Disorder 		0.010 Biomarker disease BEFREE In two XLP survivors with SH2D1A mutations, a flow cytometric evaluation of activated T cells using KST-3 could demonstrate SAP deficiency as a diagnostic indicator of XLP. 12356686 2002