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: 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
CUI: C0025289
Disease: Meningitis
Meningitis 		0.400 Biomarker disease CTD_human Genetic basis of human complement C8 beta deficiency. 8098723 1993
CUI: C0025289
Disease: Meningitis
Meningitis 		0.400 Biomarker disease HPO
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
CUI: C0087031
Disease: Juvenile-Onset Still Disease
Juvenile-Onset Still Disease 		0.300 Biomarker disease CTD_human Deficiency of the beta subunit of the eighth component of complement presenting as arthritis and exanthem. 7980680 1994
CUI: C3495559
Disease: Juvenile arthritis
Juvenile arthritis 		0.300 Biomarker disease CTD_human Deficiency of the beta subunit of the eighth component of complement presenting as arthritis and exanthem. 7980680 1994
CUI: C3714758
Disease: Juvenile psoriatic arthritis
Juvenile psoriatic arthritis 		0.300 Biomarker disease CTD_human Deficiency of the beta subunit of the eighth component of complement presenting as arthritis and exanthem. 7980680 1994
CUI: C4552091
Disease: Polyarthritis, Juvenile, Rheumatoid Factor Negative
Polyarthritis, Juvenile, Rheumatoid Factor Negative 		0.300 Biomarker disease CTD_human Deficiency of the beta subunit of the eighth component of complement presenting as arthritis and exanthem. 7980680 1994
CUI: C4704862
Disease: Polyarthritis, Juvenile, Rheumatoid Factor Positive
Polyarthritis, Juvenile, Rheumatoid Factor Positive 		0.300 Biomarker disease CTD_human Deficiency of the beta subunit of the eighth component of complement presenting as arthritis and exanthem. 7980680 1994
CUI: C0003257
Disease: Antibody Deficiency Syndrome
Antibody Deficiency Syndrome 		0.300 Biomarker disease CTD_human Genetic basis of human complement C8 beta deficiency. 8098723 1993
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes 		0.300 Biomarker group CTD_human Genetic basis of human complement C8 beta deficiency. 8098723 1993
CUI: C0030167
Disease: Pachymeningitis
Pachymeningitis 		0.300 Biomarker disease CTD_human Genetic basis of human complement C8 beta deficiency. 8098723 1993
CUI: C0085396
Disease: Neisseriaceae Infections
Neisseriaceae Infections 		0.300 Biomarker group CTD_human Genetic basis of human complement C8 beta deficiency. 8098723 1993
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.200 Biomarker disease RGD Time course of complement activation and inhibitor expression after ischemic injury of rat myocardium. 7515561 1994
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.100 GeneticVariation phenotype GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
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
CUI: C3151082
Disease: C8 deficiency
C8 deficiency 		0.100 Biomarker phenotype HPO
CUI: C3151083
Disease: Recurrent Neisserial infections
Recurrent Neisserial infections 		0.100 Biomarker phenotype HPO