KEGG   VARIANT: 51744v1
Entry
51744v1                      Variant                               
Name
SLAMF4 gain-of-function mutation
Type
Gain of function
Gene
CD244  CD244 molecule [KO:K06582]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 605554
Network
nt06546  IgSF CAM signaling
Disease
H00630  Rheumatoid arthritis
Reference
  Authors
Suzuki A, Yamada R, Kochi Y, Sawada T, Okada Y, Matsuda K, Kamatani Y, Mori M, Shimane K, Hirabayashi Y, Takahashi A, Tsunoda T, Miyatake A, Kubo M, Kamatani N, Nakamura Y, Yamamoto K
  Title
Functional SNPs in CD244 increase the risk of rheumatoid arthritis in a Japanese population.
  Journal
Nat Genet 40:1224-9 (2008)
DOI:10.1038/ng.205
LinkDB

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