KEGG   VARIANT: 54583v1
Entry
54583v1                      Variant                               
Name
EGLN1 mutation
Type
Loss of function
Gene
EGLN1  egl-9 family hypoxia inducible factor 1 [KO:K09592]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 606425
Network
nt06542  HIF signaling
Disease
H00236  Congenital polycythemia
Reference
PMID:16407130
  Authors
Percy MJ, Zhao Q, Flores A, Harrison C, Lappin TR, Maxwell PH, McMullin MF, Lee FS
  Title
A family with erythrocytosis establishes a role for prolyl hydroxylase domain protein 2 in oxygen homeostasis.
  Journal
Proc Natl Acad Sci U S A 103:654-9 (2006)
DOI:10.1073/pnas.0508423103
LinkDB

DBGET integrated database retrieval system