Details of Disease | DrugMAP

General Information of Disease (ID: DISA1RWL)

Disease Name	Autoinflammation, immune dysregulation, and eosinophilia
Synonyms	AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE; Atopic Dermatitis, Enteritis, Colitis, and Eosinophilia
Disease Hierarchy	DISYKSRF: Genetic disease DISA1RWL: Autoinflammation, immune dysregulation, and eosinophilia
Disease Identifiers	MONDO ID MONDO_0033558 UMLS CUI C5436572 OMIM ID 618999 MedGen ID 1750270

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
JAK1	TT6DM01	Strong	Autosomal dominant	[1]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
JAK1	OT0X3D17	Strong	Autosomal dominant	[1]
------------------------------------------------------------------------------------

References

1	Somatically acquired JAK1 mutations in adult acute lymphoblastic leukemia. J Exp Med. 2008 Apr 14;205(4):751-8. doi: 10.1084/jem.20072182. Epub 2008 Mar 24.