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 ▲
TUSC3-CDG
TUSC3
  • Mental retardation, autosomal recessive 22
  • Mental retardation, autosomal recessive 7 (MRT7)
  • Oligosaccharyltransferase TUSC3 subunit defect
Congenital Disorders of Glycosylation (CDGs)
ATP6VOA2-CDG
ATP6V0A2
  • ATP6VOA2 defect (cutis laxa type II)
  • Cutis laxa, autosomal recessive, type IIA (ARCL2A)
  • Debre-Type cutis laxa
  • V-ATPase a2 subunit defect
Congenital Disorders of Glycosylation (CDGs)
Muscular dystrophy, limb-girdle, type 2M
FKTN
  • FKTN-CDG (cong. muscular dystrophy spectrum)
  • Limb-girdle muscular dystrophy type 2M (LGMD2M)
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 (MDDGC4)
Congenital Disorders of Glycosylation (CDGs)
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)
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)
Muscular dystrophy, limb-girdle, type 2I
FKRP
  • FKRP-CDG (cong. muscular dystrophy spectrum)
  • Limb-girdle muscular dystrophy type 2I (LGMD2I)
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 (MDDGC5)
Congenital Disorders of Glycosylation (CDGs)
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)
Hereditary inclusion body myopathy type 2
GNE
  • GNE-CDG (hereditary inclusion body myopathy)
  • Hereditary inclusion body myopathy type 2 (HIBM2)
  • Inclusion body myopathy 2, autosomal recessive (IBM2)
Congenital Disorders of Glycosylation (CDGs)
Nonaka myopathy
GNE
  • Distal myopathy with rimmed vacuoles (DMRV)
  • Distal myopathy, Nonaka type
  • Nonaka myopathy (NM)
Congenital Disorders of Glycosylation (CDGs)
Macular corneal dystrophy
CHST6
  • Macular corneal dystrophy Type I
  • Macular corneal dystrophy Type II
Congenital Disorders of Glycosylation (CDGs)
Displaying entries 111 - 120 of 152 in total

International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01