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GENE - TERM ANNOTATION REPORT

RGD ID: 631375
Species: Rattus norvegicus
RGD Object: Gene
Symbol: Egln1
Name: egl-9 family hypoxia-inducible factor 1
Acc ID: DOID:8432
Term: polycythemia
Definition: A bone marrow disease characterized by an increased number of red blood cells in the bloodstream resulting in thicker blood and reduced blood flow. (DO)
Definition Source(s): https://rarediseases.info.nih.gov/diseases/7422/polycythemia-vera "DO" "DO", https://www.nhlbi.nih.gov/health-topics/polycythemia-vera "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Egln1 ISOEgln1 (Mus musculus)11251767RGD  
Egln1 ISOEGLN1 (Homo sapiens)11073369RGDDNA:missense mutation:exon:p.W334R (c.1000 T>C) (human) 
Egln1 ISOEGLN1 (Homo sapiens)11251768RGDDNA:missense mutations: :p.N203K, p.K291L, p.K423E (human) 
Egln1 ISOEGLN1 (Homo sapiens)11251769RGDDNA:missense mutations, nonsense mutation: :multiple 
Egln1 ISOEGLN1 (Homo sapiens)11251771RGDDNA:missense mutation: :p.P317R (950C>G) (human) 
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