Details of Disease | DrugMAP

General Information of Disease (ID: DISP9J8M)

Disease Name	Obsolete hemoglobin, high altitude adaptation
Synonyms	Hemoglobin, high oxygen saturation of; HEMOGLOBIN, high altitude adaptation; HALAH; hemoglobin, high altitude adaptation
Definition	OBSOLETE. Individuals with high altitude adaptation hemoglobin can survive in extremely hypoxic conditions without an increase in hematocrit or the development of erythrocytosis or polycythemia vera (summary by {3:Lorenzo et al., 2014}).\|Obsoleted as it represents a trait or is a legacy entry
Disease Hierarchy	DIS01GPL: Grass pollen hypersensitivity DISP9J8M: Obsolete hemoglobin, high altitude adaptation

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
EGLN1	DEWO724	Limited	Autosomal dominant	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
EGLN1	OT5QODDK	Limited	Autosomal dominant	[1]
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References

1	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.