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
CON00429	PMM2-CDG, infantile multisystem stage	PMM2		Congenital Disorders of Glycosylation (CDGs)	O15305
CON00430	PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage	PMM2		Congenital Disorders of Glycosylation (CDGs)	O15305
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
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
CON00414	Paroxysmal nocturnal hemoglobinuria, somatic (SOMATIC MUTATION)	PIGA	PNH1 Paroxysmal nocturnal hemoglobinuria 1	Congenital Disorders of Glycosylation (CDGs)	P37287
CON00103	Pompe disease	GAA	GSD type II Lysosomal alpha 1,4 Glucosidase Deficiency Disease	Lysosomal Storage Diseases (LSDs)	P10253	DOID:2752
CON00104	Pompe disease, infantile-onset form	GAA		Lysosomal Storage Diseases (LSDs)	P10253	DOID:2752
CON00105	Pompe disease, late-onset form	GAA		Lysosomal Storage Diseases (LSDs)	P10253	DOID:2752
CON00356	RFT1-CDG	RFT1	CDG-In Congenital disorder of glycosylation, type In RFT1 (flippase) deficiency	Congenital Disorders of Glycosylation (CDGs)	Q96AA3
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