KEGG   VARIANT: 3078v1
Entry
3078v1                      Variant                                
Name
CFHR1 mutation
Type
Loss of function
Gene
CFHR1  complement factor H related 1 [KO:K23815]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 134371
Network
nt06513  Complement cascade
Disease
H00821  Age-related macular degeneration
H01434  Atypical hemolytic uremic syndrome
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
LinkDB

DBGET integrated database retrieval system