KEGG   VARIANT: 718v1
Entry
718v1                      Variant                                 
Name
C3 mutation
Gene
C3  complement C3 [KO:K03990]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 120700
Network
nt06513  Complement cascade
Disease
H00102  Classic complement pathway component defects
H00821  Age-related macular degeneration
H01434  Atypical hemolytic uremic syndrome
Reference
PMID:1976733
  Authors
Botto M, Fong KY, So AK, Koch C, Walport MJ
  Title
Molecular basis of polymorphisms of human complement component C3.
  Journal
J Exp Med 172:1011-7 (1990)
DOI:10.1084/jem.172.4.1011
Reference
  Authors
Park DH, Connor KM, Lambris JD
  Title
The Challenges and Promise of Complement Therapeutics for Ocular Diseases.
  Journal
Front Immunol 10:1007 (2019)
DOI:10.3389/fimmu.2019.01007
Reference
  Authors
Avila Bernabeu AI, Cavero Escribano T, Cao Vilarino M
  Title
Atypical Hemolytic Uremic Syndrome: New Challenges in the Complement Blockage Era.
  Journal
Nephron 144:537-549 (2020)
DOI:10.1159/000508920
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