Details of Disease

General Information of Disease (ID: DISV6UYG)

Disease Name Congenital disorder of glycosylation, type IIy
Disease Hierarchy
DISEMWE1: Congenital disorder of glycosylation type II
DISV6UYG: Congenital disorder of glycosylation, type IIy
Disease Identifiers
MONDO ID
MONDO_0859356
UMLS CUI
C5774294
OMIM ID
620200
MedGen ID
1824067

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
GET4 OTKBPOD1 Limited Unknown [1]
------------------------------------------------------------------------------------

References

1 Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples. Nat Genet. 2017 Apr;49(4):504-510. doi: 10.1038/ng.3789. Epub 2017 Feb 13.