Details of Disease | DrugMAP

General Information of Disease (ID: DIS3TBBA)

Disease Name	Erythrocytosis, familial, 6
Synonyms	polycythemia, Beta-globin type; ECYT6; erythrocytosis, Beta-globin type; erythrocytosis, FAMILIAL, 6; erythrocytosis 6
Disease Hierarchy	DISOIGHH: Familial polycythemia DIS3TBBA: Erythrocytosis, familial, 6
Disease Identifiers	MONDO ID MONDO_0054801 UMLS CUI C4693822 OMIM ID 617980 MedGen ID 1634191

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
HBB	TTM6HK1	Strong	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
HBB	OT514IKQ	Strong	Autosomal dominant	[1]
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References

1	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.