C8B, complement C8 beta chain, 732

N. diseases: 17; N. variants: 16
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.
COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II
disease Disease or Syndrome 3 7 0.620 strong 1.000 3 7 1990 2009
CUI: C0025289
Disease: Meningitis
Meningitis
disease Nervous System Diseases Disease or Syndrome 191 13 0.400 None 1.000 1 1993 1993
CUI: C0003257
Disease: Antibody Deficiency Syndrome
Antibody Deficiency Syndrome
disease Immune System Diseases Disease or Syndrome 21 0.300 None 1.000 1 1993 1993
Polyarthritis, Juvenile, Rheumatoid Factor Negative
disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 131 0.300 None 1.000 1 1994 1994
CUI: C3714758
Disease: Juvenile psoriatic arthritis
Juvenile psoriatic arthritis
disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 138 0.300 None 1.000 1 1994 1994
CUI: C3495559
Disease: Juvenile arthritis
Juvenile arthritis
disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 450 128 0.300 None 1.000 1 1994 1994
Polyarthritis, Juvenile, Rheumatoid Factor Positive
disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 131 0.300 None 1.000 1 1994 1994
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 2009 2009
CUI: C0087031
Disease: Juvenile-Onset Still Disease
Juvenile-Onset Still Disease
disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 171 41 0.300 None 1.000 1 1994 1994
CUI: C0085396
Disease: Neisseriaceae Infections
Neisseriaceae Infections
group Infections Disease or Syndrome 3 0.300 None 1.000 1 1993 1993
CUI: C0030167
Disease: Pachymeningitis
Pachymeningitis
disease Nervous System Diseases Disease or Syndrome 4 0.300 None 1.000 1 1993 1993
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes
group Immune System Diseases Disease or Syndrome 973 31 0.300 None 1.000 1 1993 1993
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: C2676232
Disease: Complement Component 6 Deficiency
Complement Component 6 Deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases Disease or Syndrome 3 5 0.100 None 1.000 4 2 1993 2009
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
phenotype Laboratory Procedure 1156 2575 0.100 None 1.000 1 9 2018 2018
CUI: C3151082
Disease: C8 deficiency
C8 deficiency
phenotype Finding 2 0.100 None 0
CUI: C3151083
Disease: Recurrent Neisserial infections
Recurrent Neisserial infections
phenotype Finding 1 0.100 None 0