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
CON00098	Combined saposin deficiency	PSAP	prosaposin deficiency saposin deficiency	Lysosomal Storage Diseases (LSDs)	P07602
CON00100	Wolman disease	LIPA	Acid lipase deficiency Lysosomal acid lipase deficiency	Lysosomal Storage Diseases (LSDs)	P38571	DOID:14497
CON00103	Pompe disease	GAA	GSD type II Lysosomal alpha 1,4 Glucosidase Deficiency Disease	Lysosomal Storage Diseases (LSDs)	P10253	DOID:2752
CON00104	Pompe disease, infantile-onset form	GAA		Lysosomal Storage Diseases (LSDs)	P10253	DOID:2752
CON00105	Pompe disease, late-onset form	GAA		Lysosomal Storage Diseases (LSDs)	P10253	DOID:2752
CON00343	PMM2-CDG	PMM2	CDG-Ia Congenital disorder of glycosylation, type Ia Jaeken syndrome Phosphomannomutase 2 deficiency	Congenital Disorders of Glycosylation (CDGs)	O15305
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
CON00345	ALG6-CDG	ALG6	CDG-Ic Congenital disorder of glycosylation, type Ic	Congenital Disorders of Glycosylation (CDGs)	Q9Y672
CON00346	ALG3-CDG	ALG3	CDG-Id Congenital disorder of glycosylation, type Id	Congenital Disorders of Glycosylation (CDGs)	Q92685
CON00347	DPM1-CDG	DPM1	CDG-Ie Congenital disorder of glycosylation, type Ie	Congenital Disorders of Glycosylation (CDGs)	O60762