Details of Disease | DrugMAP

General Information of Disease (ID: DIS1U8XO)

Disease Name	Non-severe combined immunodeficiency due to COPG1 deficiency
Definition	Any non-severe combined immunodeficiency caused by a deficiency in the COPG1 gene.
Disease Hierarchy	DIS4IAP9: Non-SCID combined immunodeficiency DIS1U8XO: Non-severe combined immunodeficiency due to COPG1 deficiency

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
COPG1	OT2NLQVH	Limited	Autosomal recessive	[1]
------------------------------------------------------------------------------------

References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.