C8B, complement C8 beta chain, 732

N. diseases: 17; N. variants: 16
Disease: Complement Component 6 Deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2676232
Disease: Complement Component 6 Deficiency
Complement Component 6 Deficiency 		0.100 CausalMutation disease CLINVAR A novel mutation in a patient with a deficiency of the eighth component of complement associated with recurrent meningococcal meningitis. 19434484 2009
CUI: C2676232
Disease: Complement Component 6 Deficiency
Complement Component 6 Deficiency 		0.100 CausalMutation disease CLINVAR [Further study on heterogeneic basis of complement C8 beta deficiency]. 14767900 2004
CUI: C2676232
Disease: Complement Component 6 Deficiency
Complement Component 6 Deficiency 		0.100 CausalMutation disease CLINVAR Delineation of additional genetic bases for C8 beta deficiency. Prevalence of null alleles and predominance of C-->T transition in their genesis. 7594510 1995
CUI: C2676232
Disease: Complement Component 6 Deficiency
Complement Component 6 Deficiency 		0.100 CausalMutation disease CLINVAR Genetic basis of human complement C8 beta deficiency. 8098723 1993