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
CON00632	Temtamy preaxial brachydactyly syndrome	CHSY1	TPBS	Congenital Disorders of Glycosylation (CDGs)	Q86X52
CON00633	Spondyloepiphyseal dysplasia with congenital joint dislocations	CHST3	Spondyloepiphyseal dysplasia, Omani type	Congenital Disorders of Glycosylation (CDGs)	Q7LGC8
CON00084	Metachromatic leukodystrophy, due to saposin B deficiency	PSAP	Sphingolipid activator protein 1 deficiency	Lysosomal Storage Diseases (LSDs)	P07602
CON00405	LFNG-CDG	LFNG	SCDO3 Spondylocostal dysostosis 3, autosomal recessive	Congenital Disorders of Glycosylation (CDGs)	Q8NES3
CON00414	Paroxysmal nocturnal hemoglobinuria, somatic (SOMATIC MUTATION)	PIGA	PNH1 Paroxysmal nocturnal hemoglobinuria 1	Congenital Disorders of Glycosylation (CDGs)	P37287
CON00089	Niemann-Pick disease, type C1	NPC1	Niemann-Pick disease, type D, included	Lysosomal Storage Diseases (LSDs)	O15118
CON00376	POMT1/POMT2-CDG (cong. muscular dystrophy spectrum)	POMT1,POMT2	Muscular dystrophy-dystroglycanopathy (Congenital with brain and eye anomalies), type A, 1 (MDDGA1) Muscular dystrophy-dystroglycanopathy (Congenital with brain and eye anomalies), type A, 2 (MDDGA2) Walker-Warburg syndrome (WWS)	Congenital Disorders of Glycosylation (CDGs)		DOID:0050560
CON00377	POMGNT1-CDG (cong. muscular dystrophy spectrum)	POMGNT1	Muscle-eye-brain disease (MEB) Muscular dystrophy-dystroglycanopathy (Congenital with brain and eye anomalies), type A, 3 (MDDGA3)	Congenital Disorders of Glycosylation (CDGs)	Q8WZA1	DOID:0050560
CON00012	Sialidosis	NEU1	Mucolipidosis I Neuraminidase deficiency	Lysosomal Storage Diseases (LSDs)	Q99519	DOID:3343
CON00369	TUSC3-CDG	TUSC3	Mental retardation, autosomal recessive 22 Mental retardation, autosomal recessive 7 (MRT7) Oligosaccharyltransferase TUSC3 subunit defect	Congenital Disorders of Glycosylation (CDGs)	Q13454