Details of Disease | DrugMAP

General Information of Disease (ID: DISN2XAD)

Disease Name	Congenital disorder of glycosylation, type IIq
Synonyms	CDG2Q; CDG Iiq; COG2-related congenital disorder of glycosylation; COG2-CDG
Disease Hierarchy	DISEDS77: Defect in conserved oligomeric Golgi complex DISEMWE1: Congenital disorder of glycosylation type II DISN2XAD: Congenital disorder of glycosylation, type IIq
Disease Identifiers	MONDO ID MONDO_0054559 UMLS CUI C4479353 OMIM ID 617395 MedGen ID 1390458 Orphanet ID 435934 SNOMED CT ID 1197753005

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
COG2	OTKQH4N4	Strong	Autosomal recessive	[1]
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References

1	Mutations in COG2 encoding a subunit of the conserved oligomeric golgi complex cause a congenital disorder of glycosylation. Clin Genet. 2015 May;87(5):455-60. doi: 10.1111/cge.12417. Epub 2014 May 24.