SERPINA1, serpin family A member 1, 5265

N. diseases: 482; N. variants: 61
Disease: Panniculitis, Nodular Nonsuppurative ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0030328
Disease: Panniculitis, Nodular Nonsuppurative
Panniculitis, Nodular Nonsuppurative 		0.320 Biomarker disease CTD_human The identification of the alpha 1-antitrypsin deficiency state as the cause of a distinct type of panniculitis adds additional evidence for the elimination of the term Weber-Christian disease. 3259592 1988
CUI: C0030328
Disease: Panniculitis, Nodular Nonsuppurative
Panniculitis, Nodular Nonsuppurative 		0.320 Biomarker disease BEFREE This hyperreactivity may explain the apparent association of alpha 1-AT deficiency with Weber-Christian disease. 6600598 1983
CUI: C0030328
Disease: Panniculitis, Nodular Nonsuppurative
Panniculitis, Nodular Nonsuppurative 		0.320 Biomarker disease BEFREE Alpha 1 antitrypsin phenotypes and serum levels are presented for a family in which two brothers have Weber Christian disease and alpha 1 antitrypsin (PI) Z phenotypes. 6982619 1982
CUI: C0030328
Disease: Panniculitis, Nodular Nonsuppurative
Panniculitis, Nodular Nonsuppurative 		0.320 Biomarker disease CTD_human Genetic study of a family with two members with Weber Christian disease (panniculitis) and alpha 1 antitrypsin deficiency. 6982619 1982