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 ▲
CON00373	SEC23B-CDG	SEC23B	CDA II Congenital dyserythropoietic anaemia, type II Hereditary Erythroblastic Multinuclearity with Positive Acidified-Serum Test (HEMPAS)	Congenital Disorders of Glycosylation (CDGs)	Q15437	DOID:1338
CON00100	Wolman disease	LIPA	Acid lipase deficiency Lysosomal acid lipase deficiency	Lysosomal Storage Diseases (LSDs)	P38571	DOID:14497
CON00064	Fabry disease	GLA	Alpha-galactosidase A deficiency	Lysosomal Storage Diseases (LSDs)	P06280	DOID:14499
CON00006	Fucosidosis	FUCA1		Lysosomal Storage Diseases (LSDs)	P04066	DOID:14500
CON00395	Diastrophic dysplasia	SLC26A2	Diastrophic dwarfism	Congenital Disorders of Glycosylation (CDGs)	P50443	DOID:14687
CON00407	Ehlers-Danlos syndrome, type VI	PLOD1	Ehlers-Danlos syndrome, kyphoscoliotic type Nevo syndrome	Congenital Disorders of Glycosylation (CDGs)	Q02809	DOID:14775
CON00066	Gaucher disease, type I	GBA	non-neuronopathic form	Lysosomal Storage Diseases (LSDs)	P04062	DOID:1926
CON00067	Gaucher disease, type II	GBA		Lysosomal Storage Diseases (LSDs)	P04062	DOID:1926
CON00068	Gaucher disease, type II, neuronopathic form, classic type	GBA		Lysosomal Storage Diseases (LSDs)	P04062	DOID:1926
CON00070	Gaucher disease, type III	GBA	neuronopathic form	Lysosomal Storage Diseases (LSDs)	P04062	DOID:1926