C8B, complement C8 beta chain, 732

N. diseases: 17; N. variants: 16
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease
0.300 Biomarker group GENOMICS_ENGLAND A novel mutation in a patient with a deficiency of the eighth component of complement associated with recurrent meningococcal meningitis. 19434484 2009