C8A, complement C8 alpha chain, 731

N. diseases: 12; N. variants: 3
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C3151081
Disease: COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I
COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE I 		disease Disease or Syndrome 1 0.500 strong 1.000 1 1998 1998
CUI: C0025289
Disease: Meningitis
Meningitis 		disease Nervous System Diseases Disease or Syndrome 191 13 0.400 None 1.000 1 1998 1998
CUI: C0003257
Disease: Antibody Deficiency Syndrome
Antibody Deficiency Syndrome 		disease Immune System Diseases Disease or Syndrome 21 0.300 None 1.000 1 1998 1998
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease 		group Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 42 0.300 strong 1.000 1 1998 1998
CUI: C0085396
Disease: Neisseriaceae Infections
Neisseriaceae Infections 		group Infections Disease or Syndrome 3 0.300 None 1.000 1 1998 1998
CUI: C0030167
Disease: Pachymeningitis
Pachymeningitis 		disease Nervous System Diseases Disease or Syndrome 4 0.300 None 1.000 1 1998 1998
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes 		group Immune System Diseases Disease or Syndrome 973 31 0.300 None 1.000 1 1998 1998
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 1800 680 0.200 None 1.000 1 1994 1994
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		phenotype Laboratory Procedure 483 1142 0.100 None 1.000 1 3 2012 2012
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		phenotype Laboratory Procedure 269 555 0.100 None 1.000 1 3 2012 2012
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 1883 1172 0.100 None 0
CUI: C3151082
Disease: C8 deficiency
C8 deficiency 		phenotype Finding 2 0.100 None 0