CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi Gene Set

Dataset CTD Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Congenital disorder of glycosylation type IIi (CDG-IIi) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and mild hypotonia. (Orphanet Rare Disease Ontology, Orphanet_263487)
External Link http://ctdbase.org/detail.go?type=disease&acc=OMIM:613612
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Genes

1 genes/proteins associated with the disease CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIi from the curated CTD Gene-Disease Associations dataset.

Symbol Name Standardized Value
COG5 component of oligomeric golgi complex 5 2.88009