C8A, complement C8 alpha chain, 731

N. diseases: 12; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3151081
Disease: COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I
COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I 		0.500 Biomarker disease GENOMICS_ENGLAND Genetic basis of human complement C8 alpha-gamma deficiency. 9759902 1998
CUI: C3151081
Disease: COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I
COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I 		0.500 Biomarker disease CTD_human
CUI: C0025289
Disease: Meningitis
Meningitis 		0.400 Biomarker disease CTD_human Genetic basis of human complement C8 alpha-gamma deficiency. 9759902 1998
CUI: C0025289
Disease: Meningitis
Meningitis 		0.400 Biomarker disease HPO
CUI: C0003257
Disease: Antibody Deficiency Syndrome
Antibody Deficiency Syndrome 		0.300 Biomarker disease CTD_human Genetic basis of human complement C8 alpha-gamma deficiency. 9759902 1998
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes 		0.300 Biomarker group CTD_human Genetic basis of human complement C8 alpha-gamma deficiency. 9759902 1998
CUI: C0030167
Disease: Pachymeningitis
Pachymeningitis 		0.300 Biomarker disease CTD_human Genetic basis of human complement C8 alpha-gamma deficiency. 9759902 1998
CUI: C0085396
Disease: Neisseriaceae Infections
Neisseriaceae Infections 		0.300 Biomarker group CTD_human Genetic basis of human complement C8 alpha-gamma deficiency. 9759902 1998
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease 		0.300 Biomarker group GENOMICS_ENGLAND Genetic basis of human complement C8 alpha-gamma deficiency. 9759902 1998
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: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.100 GeneticVariation phenotype GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.100 GeneticVariation phenotype GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.100 Biomarker disease HPO
CUI: C3151082
Disease: C8 deficiency
C8 deficiency 		0.100 Biomarker phenotype HPO