General Information of Disease (ID: DISQX1XE)

Disease Name Combined immunodeficiency, X-linked
Synonyms CIDX; Xcid; immunodeficiency 6; combined immunodeficiency, X-linked, moderate, X-linked recessive; combined immunodeficiency, X-linked
Disease Hierarchy
DISFRKM4: T-B+ severe combined immunodeficiency
DISQX1XE: Combined immunodeficiency, X-linked

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
SASH3 OT0XGQ93 Strong X-linked [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.