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 ▲	Disease IDs
CON00086	Niemann-Pick disease, type A	SMPD1	neurological type	Lysosomal Storage Diseases (LSDs)	P17405
CON00087	Niemann-Pick disease, type B	SMPD1	non-neurological type	Lysosomal Storage Diseases (LSDs)	P17405
CON00062	GM2-gangliosidosis, AB variant	GM2A	GM2 activator deficiency Tay-Sachs disease, AB variant	Lysosomal Storage Diseases (LSDs)	P17900	DOID:4795
CON00005	Aspartylglucosaminuria	AGA		Lysosomal Storage Diseases (LSDs)	P20933
CON00032	Mucopolysaccharidosis II	IDS	Hunter syndrome MPS II	Lysosomal Storage Diseases (LSDs)	P22304	DOID:12799
CON00039	Morquio syndrome A	GALNS	Galactosamine-6-sulphatase deficiency MPS IVA Morquio's syndrome, classic form Mucopolysaccharidosis type IVA	Lysosomal Storage Diseases (LSDs)	P34059	DOID:12804
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
CON00029	Hurler syndrome	IDUA	Gargoylism, Hurler syndrome MPS1-H Mucopolysaccharidosis type IH Pfaundler-Hurler syndrome	Lysosomal Storage Diseases (LSDs)	P35475	DOID:12802
CON00030	Hurler-Scheie syndrome	IDUA	MPS1-HS Mucopolysaccharidosis type IH/S	Lysosomal Storage Diseases (LSDs)	P35475	DOID:12802
CON00031	Scheie syndrome	IDUA	MPS1-S Mucopolysaccharidosis type IS Mucopolysaccharidosis type V Scheie's syndrome	Lysosomal Storage Diseases (LSDs)	P35475	DOID:12802