KEGG   VARIANT: 8822v1
Entry
8822v1                      Variant                                
Name
FGF17 mutation
Type
Loss of function
Gene
FGF17  fibroblast growth factor 17 [KO:K04358]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 603725
Network
nt06526  MAPK signaling
Disease
H00255  Hypogonadotropic hypogonadism
Reference
PMID:23643382
  Authors
Miraoui H, Dwyer AA, Sykiotis GP, Plummer L, Chung W, Feng B, Beenken A, Clarke J, Pers TH, Dworzynski P, Keefe K, Niedziela M, Raivio T, Crowley WF Jr, Seminara SB, Quinton R, Hughes VA, Kumanov P, Young J, Yialamas MA, Hall JE, Van Vliet G, Chanoine JP, Rubenstein J, Mohammadi M, Tsai PS, Sidis Y, Lage K, Pitteloud N
  Title
Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.
  Journal
Am J Hum Genet 92:725-43 (2013)
DOI:10.1016/j.ajhg.2013.04.008

  All links  
Network (1)   
   KEGG NETWORK (1)   
Disease (1)   
   KEGG DISEASE (1)   
Gene (1)   
   OMIMVAR (1)   
Literature (1)   
   PubMed (1)   
All databases (4)   

Download RDF
DBGET integrated database retrieval system