KEGG   VARIANT: 10913v1
Entry
10913v1                      Variant                               
Name
EDAR mutation
Type
Loss of function
Gene
EDAR  ectodysplasin A receptor [KO:K05162]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 604095
Network
nt06516  TNF signaling
Disease
H00651  Hypohidrotic ectodermal dysplasia
Reference
  Authors
van der Hout AH, Oudesluijs GG, Venema A, Verheij JB, Mol BG, Rump P, Brunner HG, Vos YJ, van Essen AJ
  Title
Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia.
  Journal
Eur J Hum Genet 16:673-9 (2008)
DOI:10.1038/sj.ejhg.5202012
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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