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FLASH GENE
Symbol EGLN1 contributors: mct - updated : 15-05-2014
HGNC name egl nine homolog 1 (C. elegans)
HGNC id 1232
ASSOCIATED DISORDERS
corresponding disease(s) ECYT3
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional   translocation    
translocation t(1;11)(q42.1;q14.3) in major mental illness
tumoral   LOH    
suppressed tumor invasion, intravasation, and metastasis, but not affect tumor vessel density or lumen size, and normalized the endothelial lining and vessel maturation
tumoral       loss of function
in endothelial cells normalizes tumor vessels and enhances perfusion
Susceptibility
Variant & Polymorphism SNP
  • significant association between rs186996510 and hemoglobin levels in Tibetans, suggesting that EGLN1 contributes to the adaptively low hemoglobin level of Tibetans compared to acclimatized lowlanders at high altitude
  • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancer  
    inhibition of EGLN1 may offer alternative therapeutic opportunities for anticancer therapy
    cardiovascularatheroma 
    new treatment options for ischaemic disorders
    cancerendocrinepancreas
    potential target for the treatment of pancreatic cancer
    neurosensorialvisualdegenerative
    may be a promising therapeutic target to prevent oxygen-induced retinopathy
    ANIMAL & CELL MODELS
  • haplodeficient (Phd2(+/-) mice displayed preformed collateral arteries that preserved limb perfusion and prevented tissue necrosis in ischaemia