KEGG   VARIANT: 9365v1
Entry
9365v1                      Variant                                
Name
KL mutation
Type
Loss of function
Gene
KL  klotho [KO:K14756]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 604824
Network
nt06325  Hormone/cytokine signaling
Disease
H01193  Familial tumoral calcinosis
Reference
PMID:17710231
  Authors
Ichikawa S, Imel EA, Kreiter ML, Yu X, Mackenzie DS, Sorenson AH, Goetz R, Mohammadi M, White KE, Econs MJ
  Title
A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis.
  Journal
J Clin Invest 117:2684-91 (2007)
DOI:10.1172/JCI31330
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