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
CON00082	Metachromatic leukodystrophy, juvenile form	ARSA		Lysosomal Storage Diseases (LSDs)	P15289	DOID:10581
CON00041	Mucopolysaccharidosis VI	ARSB	MPS VI, Maroteaux-Lamy syndrome	Lysosomal Storage Diseases (LSDs)	P15848	DOID:12800
CON00087	Niemann-Pick disease, type B	SMPD1	non-neurological type	Lysosomal Storage Diseases (LSDs)	P17405
CON00380	Cardiomyopathy, dilated, 1X	FKTN	Cardiomyopathy, dilated, 1X (CMD1X) Dilated cardiomyopathy with mild or no proximal muscle weakness FKTN-CDG (cong. muscular dystrophy spectrum)	Congenital Disorders of Glycosylation (CDGs)	O75072
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
CON00371	ATP6VOA2-CDG	ATP6V0A2	ATP6VOA2 defect (cutis laxa type II) Cutis laxa, autosomal recessive, type IIA (ARCL2A) Debre-Type cutis laxa V-ATPase a2 subunit defect	Congenital Disorders of Glycosylation (CDGs)	Q9Y487
CON00008	Alpha-mannosidosis	MAN2B1	Alpha-mannosidase B deficiency	Lysosomal Storage Diseases (LSDs)	O00754	DOID:3413
CON00045	Mucopolysaccharidosis VII	GUSB	MPS VII Sly syndrome	Lysosomal Storage Diseases (LSDs)	P08236	DOID:12803
CON00025	Mucolipidosis II (alpha/beta)	GNPTAB	I-cell disease ML-II N-Acetylglucosamine-1-phosphotransferase deficiency	Lysosomal Storage Diseases (LSDs)	Q3T906	DOID:3343
CON00362	COG7-CDG	COG7	CDG-IIe Congenital disorder of glycosylation, type IIe	Congenital Disorders of Glycosylation (CDGs)	P83436