C9, complement C9, 735

N. diseases: 62; N. variants: 32
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes
0.300 Biomarker group CTD_human A non-sense mutation at Arg95 is predominant in complement 9 deficiency in Japanese. 9570574 1998
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes
0.300 Biomarker group CTD_human Hereditary complement (C9) deficiency associated with dermatomyositis. 11359403 2001