C8B, complement C8 beta chain, 732

N. diseases: 17; N. variants: 16
Disease: COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3151080
Disease: COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II
COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II 		0.620 Biomarker disease GENOMICS_ENGLAND A novel mutation in a patient with a deficiency of the eighth component of complement associated with recurrent meningococcal meningitis. 19434484 2009
CUI: C3151080
Disease: COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II
COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II 		0.620 GeneticVariation disease BEFREE Studies at the DNA level in family I, using a recently described PCR system, demonstrate the presence of a C-T exchange, which creates a stop codon in exon 9 of the C8B gene, as cause for the C8 beta deficiency. 8020197 1994
CUI: C3151080
Disease: COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II
COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II 		0.620 GeneticVariation disease BEFREE All exhibited the same pattern, indicating that the C8B deficiency is not due to a major deletion in the C8B gene. 2284574 1990
CUI: C3151080
Disease: COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II
COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II 		0.620 CausalMutation disease CLINVAR
CUI: C3151080
Disease: COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II
COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II 		0.620 Biomarker disease CTD_human