SERPING1, serpin family G member 1, 710

N. diseases: 207; N. variants: 43
Disease: Hereditary C1 esterase inhibitor deficiency - deficient factor ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0398775
Disease: Hereditary C1 esterase inhibitor deficiency - deficient factor
Hereditary C1 esterase inhibitor deficiency - deficient factor 		0.300 GermlineCausalMutation disease ORPHANET Mutational spectrum of the c1 inhibitor gene in a cohort of Italian patients with hereditary angioedema: description of nine novel mutations. 24456027 2014