Details of Disease | DrugMAP

General Information of Disease (ID: DIS5LJLP)

Disease Name	Immunodeficiency 72 with autoinflammation
Synonyms	IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
Disease Hierarchy	DIS093I0: Immunodeficiency DIS5LJLP: Immunodeficiency 72 with autoinflammation
Disease Identifiers	MONDO ID MONDO_0033551 UMLS CUI C5436540 OMIM ID 618982 MedGen ID 1749856

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NCKAP1L	OTADCEUK	Strong	Autosomal recessive	[1]
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References

1	A point mutation in the murine Hem1 gene reveals an essential role for Hematopoietic protein 1 in lymphopoiesis and innate immunity. J Exp Med. 2008 Nov 24;205(12):2899-913. doi: 10.1084/jem.20080340. Epub 2008 Nov 17.