KEGG   VARIANT: 1636v1
Entry
1636v1                      Variant                                
Name
ACE mutation
Type
Loss of function
Gene
ACE  angiotensin I converting enzyme [KO:K01283]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 106180
Network
nt06316  Renin-angiotensin-aldosterone signaling
Disease
H00575  Renal tubular dysgenesis
Reference
  Authors
Gribouval O, Gonzales M, Neuhaus T, Aziza J, Bieth E, Laurent N, Bouton JM, Feuillet F, Makni S, Ben Amar H, Laube G, Delezoide AL, Bouvier R, Dijoud F, Ollagnon-Roman E, Roume J, Joubert M, Antignac C, Gubler MC
  Title
Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis.
  Journal
Nat Genet 37:964-8 (2005)
DOI:10.1038/ng1623
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