CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj Gene Set

Dataset CTD Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Congenital disorder of glycosylation type IIj (CDG-IIj) is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia. (Orphanet Rare Disease Ontology, Orphanet_263501)
External Link http://ctdbase.org/detail.go?type=disease&acc=OMIM:613489
Similar Terms
Downloads & Tools

Genes

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

Symbol Name Standardized Value
COG4 component of oligomeric golgi complex 4 2.88009