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EGLN1

egl-9 family hypoxia inducible factor 1

HCNC Approved Symbol
EGLN1 (HGNC:1232)
Genomic Coordinates
1:231,363,756 - 231,422,287 (1q42.2)
Synonyms
SM-20, PHD2, ZMYND6, HIFPH2, C1orf12
Disease Associations
This gene is associated with the following 2 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
[Hemoglobin, high altitude adaptation]
609070AD
Erythrocytosis, familial, 3
609820AD

Diagnosed Cases

0Patient

There are no patients diagnosed with a variant in the EGLN1 gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

No Results