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
CON00430	PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage	PMM2		Congenital Disorders of Glycosylation (CDGs)	O15305
CON00429	PMM2-CDG, infantile multisystem stage	PMM2		Congenital Disorders of Glycosylation (CDGs)	O15305
CON00431	PMM2-CDG, adult stable disability stage	PMM2		Congenital Disorders of Glycosylation (CDGs)	O15305
CON00343	PMM2-CDG	PMM2	CDG-Ia Congenital disorder of glycosylation, type Ia Jaeken syndrome Phosphomannomutase 2 deficiency	Congenital Disorders of Glycosylation (CDGs)	O15305
CON00415	PIGM-CDG	PIGM	Autosomal recessive GPI anchor deficiency Glycosylphosphatidylinositol deficiency	Congenital Disorders of Glycosylation (CDGs)	Q9H3S5
CON00625	PGM1-CDG	PGM1	CDG-It Congenital Disorder of Glycosylation, Type It	Congenital Disorders of Glycosylation (CDGs)	P36871
CON00386	Nonaka myopathy	GNE	Distal myopathy with rimmed vacuoles (DMRV) Distal myopathy, Nonaka type Nonaka myopathy (NM)	Congenital Disorders of Glycosylation (CDGs)	Q9Y223
CON00090	Niemann-Pick disease, type C2	NPC2		Lysosomal Storage Diseases (LSDs)	P61916
CON00089	Niemann-Pick disease, type C1	NPC1	Niemann-Pick disease, type D, included	Lysosomal Storage Diseases (LSDs)	O15118
CON00087	Niemann-Pick disease, type B	SMPD1	non-neurological type	Lysosomal Storage Diseases (LSDs)	P17405