General Information of Disease (ID: DISWVW9F)

Disease Name Obsolete NGLY1-deficiency
Disease Hierarchy
DIS01GPL: Grass pollen hypersensitivity
DISWVW9F: Obsolete NGLY1-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
NGLY1 OTZBQD5Q Strong Autosomal recessive [1]
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References

1 Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway. Genet Med. 2014 Oct;16(10):751-8. doi: 10.1038/gim.2014.22. Epub 2014 Mar 20.