GlyCosmos Portal

Glyco-Disease Genes Database (GDGDB)

GDGDB is a database of glycan-related diseases and their responsible genes.

Database	Last Updated
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Concept UI	Disease Name ▲	Gene Symbol	Disease Name Aliases	Disease Type	UniProt ID
CON00405	LFNG-CDG	LFNG	SCDO3 Spondylocostal dysostosis 3, autosomal recessive	Congenital Disorders of Glycosylation (CDGs)	Q8NES3
CON00409	Lysyl hydroxylase 3 deficiency	PLOD3	Bone fragility with contractures, arterial rupture, and deafness LH3 deficiency	Congenital Disorders of Glycosylation (CDGs)	O60568
CON00358	MGAT2-CDG	MGAT2	CDG-IIa Congenital disorder of glycosylation, type IIa	Congenital Disorders of Glycosylation (CDGs)	Q10469
CON00348	MPDU1-CDG	MPDU1	CDG-If Congenital disorder of glycosylation, type If	Congenital Disorders of Glycosylation (CDGs)	O75352
CON00344	MPI-CDG	MPI	CDG-Ib Congenital disorder of glycosylation, type Ib Mannosephosphate isomerase deficiency Protein-losing enteropathy-hepatic fibrosis syndrome Saguenay-Lac Saint-Jean syndrome	Congenital Disorders of Glycosylation (CDGs)	P34949
CON00391	Macular corneal dystrophy	CHST6	Macular corneal dystrophy Type I Macular corneal dystrophy Type II	Congenital Disorders of Glycosylation (CDGs)	Q9GZX3
CON00044	Maroteaux-Lamy syndrome, intermediate form	ARSB		Lysosomal Storage Diseases (LSDs)	P15848
CON00043	Maroteaux-Lamy syndrome, mild form	ARSB		Lysosomal Storage Diseases (LSDs)	P15848
CON00042	Maroteaux-Lamy syndrome, severe form	ARSB		Lysosomal Storage Diseases (LSDs)	P15848
CON00630	Mental retardation, autosomal recessive 12	ST3GAL3	MRT12	Congenital Disorders of Glycosylation (CDGs)	Q11203