SERPING1, serpin family G member 1, 710

N. diseases: 207; N. variants: 43
Disease: Complement deficiency disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease 		0.320 Biomarker group BEFREE Today, there are three main indications for determination of a patient's complement status: (1) complement deficiencies (acquired or inherited); (2) disorders with aberrant complement activation; and (3) C1 inhibitor deficiencies (acquired or inherited). 30405598 2018
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease 		0.320 Biomarker group GENOMICS_ENGLAND Unique C1 inhibitor dysfunction in a kindred without angioedema. II. Identification of an Ala443-->Val substitution and functional analysis of the recombinant mutant protein. 7883978 1995
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease 		0.320 GeneticVariation group BEFREE Hereditary deficiency of C1 esterase inhibitor (C1 INH) responsible for hereditary angioedema (HAE) is the most common hereditary complement deficiency. 2736814 1989