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
CON00052	GM1-gangliosidosis, type II	GLB1	Derry syndrome juvenile form	Lysosomal Storage Diseases (LSDs)	P16278	DOID:3322
CON00384	Duchenne muscular dystrophy	DMD	DMD Muscular dystrophy, pseudohypertrophic progressive, Duchenne type	Congenital Disorders of Glycosylation (CDGs)	P11532	DOID:11723
CON00383	LARGE-CDG (cong. muscular dystrophy spectrum)	LARGE	Congenital muscular dystrophy type 1D (CMD1D) Muscular dystrophy, congenital, type 1D (MDC1D) Muscular dystrophy-dystroglycanopathy (Congenital with mental retardation), type B, 6 (MDDGB6)	Congenital Disorders of Glycosylation (CDGs)	O95461
CON00381	Muscular dystrophy, congenital, type 1C	FKRP	Congenital muscular dystrophy type 1C (CMD1C) FKRP-CDG (cong. muscular dystrophy spectrum) Muscular dystrophy, congenital, type 1C (MDC1C) Muscular dystrophy-dystroglycanopathy (Congenital with or without mental retardation), type B, 5 (MDDGB5)	Congenital Disorders of Glycosylation (CDGs)	Q9H9S5
CON00023	Galactosialidosis	CTSA	Combined deficiency of sialidase AND beta galactosidase	Lysosomal Storage Diseases (LSDs)	P10619
CON00399	SLC35D1-CDG	SLC35D1	Chondrodysplasia, lethal neonatal, with snail-like pelvis Schneckenbecken dysplasia	Congenital Disorders of Glycosylation (CDGs)	Q9NTN3	DOID:0050775
CON00013	Sialidosis type I	NEU1	Cherry-red spot myoclonus syndrome Normosomatic sialidosis	Lysosomal Storage Diseases (LSDs)	Q99519
CON00380	Cardiomyopathy, dilated, 1X	FKTN	Cardiomyopathy, dilated, 1X (CMD1X) Dilated cardiomyopathy with mild or no proximal muscle weakness FKTN-CDG (cong. muscular dystrophy spectrum)	Congenital Disorders of Glycosylation (CDGs)	O75072
CON00628	Myasthenia, congenital, with tubular aggregates 1	GFPT1	CMSTA1	Congenital Disorders of Glycosylation (CDGs)	Q06210
CON00625	PGM1-CDG	PGM1	CDG-It Congenital Disorder of Glycosylation, Type It	Congenital Disorders of Glycosylation (CDGs)	P36871