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 ▲
CON00388	B4GALT7-CDG	B4GALT7	Ehlers-Danlos syndrome, progeroid form Ehlers-Danlos syndrome, progeroid type, 1 Galactosyltransferase 1 deficiency	Congenital Disorders of Glycosylation (CDGs)	Q9UBV7	DOID:0050802
CON00398	Autosomal recessive multiple epiphyseal dysplasia	SLC26A2	Epiphyseal dysplasia, multiple, 4 (EDM4)	Congenital Disorders of Glycosylation (CDGs)	P50443	DOID:0070300
CON00080	Metachromatic leukodystrophy	ARSA		Lysosomal Storage Diseases (LSDs)	P15289	DOID:10581
CON00081	Metachromatic leukodystrophy, infantile form	ARSA		Lysosomal Storage Diseases (LSDs)	P15289	DOID:10581
CON00082	Metachromatic leukodystrophy, juvenile form	ARSA		Lysosomal Storage Diseases (LSDs)	P15289	DOID:10581
CON00083	Metachromatic leukodystrophy, adult form	ARSA		Lysosomal Storage Diseases (LSDs)	P15289	DOID:10581
CON00073	Krabbe disease	GALC	Galactosylceramide beta-galactosidase deficiency Globoid cell leukodystrophy Krabbe leukodystrophy Leukodystrophy, globoid cell	Lysosomal Storage Diseases (LSDs)	P54803	DOID:10587
CON00074	Krabbe disease, infantile form	GALC		Lysosomal Storage Diseases (LSDs)	P54803	DOID:10587
CON00075	Krabbe disease, late-onset form	GALC		Lysosomal Storage Diseases (LSDs)	P54803	DOID:10587
CON00384	Duchenne muscular dystrophy	DMD	DMD Muscular dystrophy, pseudohypertrophic progressive, Duchenne type	Congenital Disorders of Glycosylation (CDGs)	P11532	DOID:11723