CFD, complement factor D, 1675

N. diseases: 83; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0003257
Disease: Antibody Deficiency Syndrome
Antibody Deficiency Syndrome
0.300 Biomarker disease CTD_human Deficient alternative complement pathway activation due to factor D deficiency by 2 novel mutations in the complement factor D gene in a family with meningococcal infections. 16527897 2006
CUI: C0003257
Disease: Antibody Deficiency Syndrome
Antibody Deficiency Syndrome
0.300 Biomarker disease CTD_human A family with complement factor D deficiency. 11457876 2001