GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source Last Updated
Alliance of Genome Resources July 29, 2024
DisGeNET July 29, 2024
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 3101 - 3125 of 7942 in total
Disease ID Disease Name Gene Symbol ▼ Gene ID Organism
DOID:0080718
  • GNE myopathy
  • Aliases:
    • Distal myopathy, Nonaka type
    • Hereditary Inclusion Body Myopathy
    • Nonaka myopathy
    • inclusion body myopathy 2
Mus musculus (house mouse)
DOID:3659
  • sialuria
Mus musculus (house mouse)
DOID:0080718
  • GNE myopathy
  • Aliases:
    • Distal myopathy, Nonaka type
    • Hereditary Inclusion Body Myopathy
    • Nonaka myopathy
    • inclusion body myopathy 2
Rattus norvegicus (Norway rat)
DOID:3659
  • sialuria
Rattus norvegicus (Norway rat)
DOID:0112377
  • muscular dystrophy-dystroglycanopathy type B14
  • Aliases:
    • MDDGB14
    • congenital muscular dystrophy GMPPB-related
Drosophila melanogaster (fruit fly)
DOID:0111233
  • congenital muscular dystrophy-dystroglycanopathy A14
  • Aliases:
    • MDDGA14
    • Walker-Warburg syndrome or muscle-eye-brain disease GMPPB-related
    • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A14
Drosophila melanogaster (fruit fly)
DOID:0110294
  • autosomal recessive limb-girdle muscular dystrophy type 2T
  • Aliases:
    • LGMD2T
    • MDDGC14
    • muscular dystrophy limb-girdle type 2T
    • muscular dystrophy-dystroglycanopathy (limb-girdle) type C14
    • muscular dystrophy-dystroglycanopathy limb-girdle GMPPB-related
Drosophila melanogaster (fruit fly)
DOID:4795
  • GM2 gangliosidosis, AB variant
  • Aliases:
    • Tay-Sachs disease AB variant
    • Tay-Sachs disease, variant AB
Mus musculus (house mouse)
DOID:3321
  • GM2 gangliosidosis
  • Aliases:
    • gangliosidosis GM2
Mus musculus (house mouse)
DOID:3534
  • Lafora disease
  • Aliases:
    • Lafora Progressive Myoclonic Epilepsy
    • Lafora's disease
    • MYOCLONIC EPILEPSY OF LAFORA
Drosophila melanogaster (fruit fly)
DOID:1287
  • cardiovascular system disease
  • Aliases:
    • disease of subdivision of hemolymphoid system
Drosophila melanogaster (fruit fly)
DOID:3650
  • lactic acidosis
Drosophila melanogaster (fruit fly)
DOID:2754
  • glycogen storage disease VI
  • Aliases:
    • Glycogen storage disease 6
    • Hers' disease
    • glycogen storage disease type VI
    • hepatic glycogen phosphorylase deficiency
    • hepatophosphorylase deficiency glycogenosis
Drosophila melanogaster (fruit fly)
DOID:2746
  • glycogen storage disease V
  • Aliases:
    • Glycogen storage disease 5
    • Glycogen storage disease, type V
    • McArdle's disease
    • glycogen storage disease type V
    • myophosphorylase deficiency
Drosophila melanogaster (fruit fly)
DOID:13580
  • cholestasis
  • Aliases:
    • Obstruction of bile duct
    • bile occlusion
Drosophila melanogaster (fruit fly)
DOID:0111626
  • D-glyceric aciduria
  • Aliases:
    • D-glycerate kinase deficiency
    • D-glyceric acidemia
    • D-glycericacidemia
    • deficiency of glycerate kinase
    • non ketotic hyperglycinemia syndrome
Rattus norvegicus (Norway rat)
DOID:0111626
  • D-glyceric aciduria
  • Aliases:
    • D-glycerate kinase deficiency
    • D-glyceric acidemia
    • D-glycericacidemia
    • deficiency of glycerate kinase
    • non ketotic hyperglycinemia syndrome
Mus musculus (house mouse)
DOID:9206
  • Barrett's esophagus
  • Aliases:
    • Barrett esophagus
    • Barrett's esophagus with esophagitis
    • Barrett's oesophagus
    • Barrett's ulcer of esophagus
    • Barretts syndrome
    • ulcerative esophagitis
Drosophila melanogaster (fruit fly)
DOID:0080575
  • Larsen-like syndrome B3GAT3 type
  • Aliases:
    • Larsen-like syndrome, B3GAT3 type
    • multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome
Drosophila melanogaster (fruit fly)
DOID:3770
  • pulmonary fibrosis
  • Aliases:
    • Fibrosis of lung
Drosophila melanogaster (fruit fly)
DOID:0080489
  • GM1 gangliosidosis type 3
  • Aliases:
    • adult-onset GM1 gangliosidosis
Mus musculus (house mouse)
DOID:0111392
  • mucopolysaccharidosis type IVB
  • Aliases:
    • MPS IVB
    • MPS4B
    • Morquio disease type B
    • Morquio syndrome B
    • beta-D-galactosidase deficiency
    • mucopolysaccharidosis type IVB (Morquio)
Mus musculus (house mouse)
DOID:0080502
  • GM1 gangliosidosis type 1
Mus musculus (house mouse)
DOID:3322
  • GM1 gangliosidosis
  • Aliases:
    • Beta-galactosidase deficiency
    • deficiency of beta-galactosidase
    • gangliosidosis GM1
Mus musculus (house mouse)
DOID:0080501
  • GM1 gangliosidosis type 2
  • Aliases:
    • juvenile GM1 gangliosidosis
Mus musculus (house mouse)

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Supported by JST NBDC Grant Number JPMJND2204

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


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Last updated: August 19, 2024