KEGG   VARIANT: 1896v1
Entry
1896v1                      Variant                                
Name
EDA mutation
Gene
EDA  ectodysplasin A [KO:K05480]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 300451
Network
nt06516  TNF signaling
Disease
H00625  Tooth agenesis
H00651  Hypohidrotic ectodermal dysplasia
Reference
  Authors
Han D, Gong Y, Wu H, Zhang X, Yan M, Wang X, Qu H, Feng H, Song S
  Title
Novel EDA mutation resulting in X-linked non-syndromic hypodontia and the pattern of EDA-associated isolated tooth agenesis.
  Journal
Eur J Med Genet 51:536-46 (2008)
DOI:10.1016/j.ejmg.2008.06.002
Reference
  Authors
Monreal AW, Ferguson BM, Headon DJ, Street SL, Overbeek PA, Zonana J
  Title
Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia.
  Journal
Nat Genet 22:366-9 (1999)
DOI:10.1038/11937
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