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
CON00015	Sialidosis type II, congenital form	NEU1		Lysosomal Storage Diseases (LSDs)	Q99519
CON00016	Sialidosis type II, infantile form	NEU1		Lysosomal Storage Diseases (LSDs)	Q99519
CON00017	Sialidosis type II, juvenile form	NEU1		Lysosomal Storage Diseases (LSDs)	Q99519
CON00089	Niemann-Pick disease, type C1	NPC1	Niemann-Pick disease, type D, included	Lysosomal Storage Diseases (LSDs)	O15118
CON00090	Niemann-Pick disease, type C2	NPC2		Lysosomal Storage Diseases (LSDs)	P61916
CON00393	Spondyloepimetaphyseal dysplasia, pakistani type	PAPSS2	Brachyolmia 4 with mild epiphyseal and metaphyseal changes SEMD, pakistani type	Congenital Disorders of Glycosylation (CDGs)	O95340
CON00625	PGM1-CDG	PGM1	CDG-It Congenital Disorder of Glycosylation, Type It	Congenital Disorders of Glycosylation (CDGs)	P36871
CON00414	Paroxysmal nocturnal hemoglobinuria, somatic (SOMATIC MUTATION)	PIGA	PNH1 Paroxysmal nocturnal hemoglobinuria 1	Congenital Disorders of Glycosylation (CDGs)	P37287
CON00415	PIGM-CDG	PIGM	Autosomal recessive GPI anchor deficiency Glycosylphosphatidylinositol deficiency	Congenital Disorders of Glycosylation (CDGs)	Q9H3S5
CON00636	Multiple congenital anomalies-hypotonia-seizures syndrome 1	PIGN	MCAHS1	Congenital Disorders of Glycosylation (CDGs)	O95427