SERPING1, serpin family G member 1, 710

N. diseases: 207; N. variants: 43
Disease: Acquired C1 inhibitor deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3506079
Disease: Acquired C1 inhibitor deficiency
Acquired C1 inhibitor deficiency 		0.080 Biomarker disease BEFREE Angioedema due to acquired C1-inhibitor deficiency: spectrum and treatment with C1-inhibitor concentrate. 30866985 2019
CUI: C3506079
Disease: Acquired C1 inhibitor deficiency
Acquired C1 inhibitor deficiency 		0.080 Biomarker disease BEFREE Restricted immunoglobulin gene repertoire analysis showed that the IGHV1-2*04 allele was found to be over-represented in the group of patients with or without lymphoproliferative disease presenting with autoantibodies to C1-INH (41 of 55 (75%) of patients; p value 0.011) when compared to the control group of patients with AEE without antibodies to C1-INH, (7 of 27 (26%) of patients). 30073422 2018
CUI: C3506079
Disease: Acquired C1 inhibitor deficiency
Acquired C1 inhibitor deficiency 		0.080 Biomarker disease BEFREE Time from symptom onset to diagnosis was significantly shorter in patients with C1-INH-AAE versus C1-INH-HAE types I/II (mean 12·3 months versus 118·1 months; P = 0·006). 27936514 2017
CUI: C3506079
Disease: Acquired C1 inhibitor deficiency
Acquired C1 inhibitor deficiency 		0.080 Biomarker disease BEFREE The presence of autoantibodies to C1-inhibitor (C1-INH-Abs) is a hallmark of acquired C1-inhibitor deficiency. 16750855 2007
CUI: C3506079
Disease: Acquired C1 inhibitor deficiency
Acquired C1 inhibitor deficiency 		0.080 Biomarker disease BEFREE Patients with hereditary or acquired C1-inhibitor deficiency who had very frequent angioedema attacks were trained to self-administer C1-inhibitor concentrate. 16630950 2006
CUI: C3506079
Disease: Acquired C1 inhibitor deficiency
Acquired C1 inhibitor deficiency 		0.080 Biomarker disease BEFREE Epitope mapping of C1 inhibitor autoantibodies from patients with acquired C1 inhibitor deficiency. 8596057 1996
CUI: C3506079
Disease: Acquired C1 inhibitor deficiency
Acquired C1 inhibitor deficiency 		0.080 GeneticVariation disease BEFREE Acquired C1 inhibitor deficiency as a result of an autoantibody to the reactive center region of C1 inhibitor. 7512602 1994
CUI: C3506079
Disease: Acquired C1 inhibitor deficiency
Acquired C1 inhibitor deficiency 		0.080 Biomarker disease BEFREE Long-term prophylaxis with C1-inhibitor (C1 INH) concentrate in patients with recurrent angioedema caused by hereditary and acquired C1-inhibitor deficiency. 2926086 1989