KEGG   VARIANT: 81494v1
Entry
81494v1                      Variant                               
Name
CFHR5 mutation
Type
Loss of function
Gene
CFHR5  complement factor H related 5 [KO:K23817]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 608593
Network
nt06513  Complement cascade
Disease
H02579  C3 glomerulopathy
Reference
PMID:35734939
  Authors
Heiderscheit AK, Hauer JJ, Smith RJH
  Title
C3 glomerulopathy: Understanding an ultra-rare complement-mediated renal disease.
  Journal
Am J Med Genet C Semin Med Genet 190:344-357 (2022)
DOI:10.1002/ajmg.c.31986
LinkDB

DBGET integrated database retrieval system