SMPX, small muscle protein X-linked, 23676

N. diseases: 37; N. variants: 8
Disease: Angioedemas, Hereditary ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0019243
Disease: Angioedemas, Hereditary
Angioedemas, Hereditary 		0.020 GeneticVariation disease BEFREE To characterize the population pharmacokinetics of C1-INH (SC) (HAEGARDA<sup>®</sup> ; CSL Behring) in healthy volunteers and HAE patients, and assess the variability and influence of covariates on pharmacokinetics. 29998524 2018
CUI: C0019243
Disease: Angioedemas, Hereditary
Angioedemas, Hereditary 		0.020 Biomarker disease BEFREE Berinert® (CSL Behring) is a plasma-derived human C1 inhibitor (C1-INH) concentrate, approved for the treatment of HAE with C1-INH deficiency (C1-INH-HAE), however, it is often used off-label in Europe to treat HAE with normal C1-INH. 28251901 2017