Details of Disease | DrugMAP

General Information of Disease (ID: DIS0EB4Z)

Disease Name	Autoimmune disease, multisystem, infantile-onset, 3
Disease Hierarchy	DISRTNJ3: Autoimmune disease, multisystem, infantile-onset DIS0EB4Z: Autoimmune disease, multisystem, infantile-onset, 3
Disease Identifiers	MONDO ID MONDO_0957388 UMLS CUI C5830600 OMIM ID 620430 MedGen ID 1841236

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
CBLB	TTHRAIJ	Strong	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CBLB	OTPLRER9	Strong	Autosomal recessive	[1]
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References

1	c-Cbl-mediated regulation of LAT-nucleated signaling complexes. Mol Cell Biol. 2007 Dec;27(24):8622-36. doi: 10.1128/MCB.00467-07. Epub 2007 Oct 15.