KEGG   VARIANT: 2312v1
Entry
2312v1                      Variant                                
Name
FLG mutaiton
Type
Loss of function
Gene
FLG  filaggrin [KO:K10384]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 135940
Network
nt06545  Cornified envelope formation
Disease
H00735  Ichthyosis vulgaris
H01358  Atopic dermatitis
Reference
  Authors
Smith FJ, Irvine AD, Terron-Kwiatkowski A, Sandilands A, Campbell LE, Zhao Y, Liao H, Evans AT, Goudie DR, Lewis-Jones S, Arseculeratne G, Munro CS, Sergeant A, O'Regan G, Bale SJ, Compton JG, DiGiovanna JJ, Presland RB, Fleckman P, McLean WH
  Title
Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.
  Journal
Nat Genet 38:337-42 (2006)
DOI:10.1038/ng1743
Reference
  Authors
Weidinger S, Illig T, Baurecht H, Irvine AD, Rodriguez E, Diaz-Lacava A, Klopp N, Wagenpfeil S, Zhao Y, Liao H, Lee SP, Palmer CN, Jenneck C, Maintz L, Hagemann T, Behrendt H, Ring J, Nothen MM, McLean WH, Novak N
  Title
Loss-of-function variations within the filaggrin gene predispose for atopic dermatitis with allergic sensitizations.
  Journal
J Allergy Clin Immunol 118:214-9 (2006)
DOI:10.1016/j.jaci.2006.05.004
LinkDB

DBGET integrated database retrieval system