KEGG   VARIANT: 23607v1
Entry
23607v1                      Variant                               
Name
CD2AP mutation
Type
Loss of function
Gene
CD2AP  CD2 associated protein [KO:K13738]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 604241
Network
nt06546  IgSF CAM signaling
Disease
H00626  Focal segmental glomerulosclerosis
Reference
PMID:12764198
  Authors
Kim JM, Wu H, Green G, Winkler CA, Kopp JB, Miner JH, Unanue ER, Shaw AS
  Title
CD2-associated protein haploinsufficiency is linked to glomerular disease susceptibility.
  Journal
Science 300:1298-300 (2003)
DOI:10.1126/science.1081068
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