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GlyCosmos Diseases

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

Source Last Updated
Alliance of Genome Resources October 9, 2024
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 8476 - 8500 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source ▼
DOID:0111458
  • galactose epimerase deficiency
  • Aliases:
    • GALE deficiency
    • GALE-D
    • UDP-galactose-4-epimerase deficiency
    • epimerase deficiency galactosemia
    • galactosemia III
    • galactosemia type 3
    • uridine diphosphate galactose-4-epimerase deficiency
Saccharomyces cerevisiae S288C
DOID:0111458
  • galactose epimerase deficiency
  • Aliases:
    • GALE deficiency
    • GALE-D
    • UDP-galactose-4-epimerase deficiency
    • epimerase deficiency galactosemia
    • galactosemia III
    • galactosemia type 3
    • uridine diphosphate galactose-4-epimerase deficiency
Homo sapiens (human)
DOID:0111458
  • galactose epimerase deficiency
  • Aliases:
    • GALE deficiency
    • GALE-D
    • UDP-galactose-4-epimerase deficiency
    • epimerase deficiency galactosemia
    • galactosemia III
    • galactosemia type 3
    • uridine diphosphate galactose-4-epimerase deficiency
Drosophila melanogaster (fruit fly)
DOID:0111458
  • galactose epimerase deficiency
  • Aliases:
    • GALE deficiency
    • GALE-D
    • UDP-galactose-4-epimerase deficiency
    • epimerase deficiency galactosemia
    • galactosemia III
    • galactosemia type 3
    • uridine diphosphate galactose-4-epimerase deficiency
Mus musculus (house mouse)
DOID:0111458
  • galactose epimerase deficiency
  • Aliases:
    • GALE deficiency
    • GALE-D
    • UDP-galactose-4-epimerase deficiency
    • epimerase deficiency galactosemia
    • galactosemia III
    • galactosemia type 3
    • uridine diphosphate galactose-4-epimerase deficiency
Caenorhabditis elegans
DOID:0111457
  • STING-associated vasculopathy with onset in infancy
  • Aliases:
    • SAVI
Homo sapiens (human)
DOID:0111457
  • STING-associated vasculopathy with onset in infancy
  • Aliases:
    • SAVI
Drosophila melanogaster (fruit fly)
DOID:0111454
  • SHORT syndrome
  • Aliases:
    • Aarskog-Ose-Pande syndrome
    • Lipodystrophy-Rieger anomaly-diabetes syndrome
    • Rieger anomaly-partial lipodystrophy syndrome
    • short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay
Rattus norvegicus (Norway rat)
DOID:0111454
  • SHORT syndrome
  • Aliases:
    • Aarskog-Ose-Pande syndrome
    • Lipodystrophy-Rieger anomaly-diabetes syndrome
    • Rieger anomaly-partial lipodystrophy syndrome
    • short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay
Mus musculus (house mouse)
DOID:0111453
  • 2-aminoadipic 2-oxoadipic aciduria
  • Aliases:
    • AMOXAD
    • alpha-aminoadipic aciduria
Mus musculus (house mouse)
DOID:0111453
  • 2-aminoadipic 2-oxoadipic aciduria
  • Aliases:
    • AMOXAD
    • alpha-aminoadipic aciduria
Homo sapiens (human)
DOID:0111453
  • 2-aminoadipic 2-oxoadipic aciduria
  • Aliases:
    • AMOXAD
    • alpha-aminoadipic aciduria
Danio rerio (zebrafish)
DOID:0111453
  • 2-aminoadipic 2-oxoadipic aciduria
  • Aliases:
    • AMOXAD
    • alpha-aminoadipic aciduria
Rattus norvegicus (Norway rat)
DOID:0111453
  • 2-aminoadipic 2-oxoadipic aciduria
  • Aliases:
    • AMOXAD
    • alpha-aminoadipic aciduria
Caenorhabditis elegans
DOID:0111453
  • 2-aminoadipic 2-oxoadipic aciduria
  • Aliases:
    • AMOXAD
    • alpha-aminoadipic aciduria
Xenopus laevis (African clawed frog)
DOID:0111453
  • 2-aminoadipic 2-oxoadipic aciduria
  • Aliases:
    • AMOXAD
    • alpha-aminoadipic aciduria
Drosophila melanogaster (fruit fly)
DOID:0111452
  • progressive myoclonus epilepsy 1A
  • Aliases:
    • EPM1A
Homo sapiens (human)
DOID:0111451
  • progressive myoclonus epilepsy 8
  • Aliases:
    • EMP8
    • PME type 8
    • progressive myoclonic epilepsy due to CERS1 deficiency
    • progressive myoclonus epilepsy type 8
Saccharomyces cerevisiae S288C
DOID:0111451
  • progressive myoclonus epilepsy 8
  • Aliases:
    • EMP8
    • PME type 8
    • progressive myoclonic epilepsy due to CERS1 deficiency
    • progressive myoclonus epilepsy type 8
Homo sapiens (human)
DOID:0111450
  • progressive myoclonus epilepsy 9
  • Aliases:
    • EMP9
    • PME type 9
    • progressive myoclonic epilepsy due to LMNB2 deficiency
    • progressive myoclonus epilepsy type 9
Homo sapiens (human)
DOID:0111450
  • progressive myoclonus epilepsy 9
  • Aliases:
    • EMP9
    • PME type 9
    • progressive myoclonic epilepsy due to LMNB2 deficiency
    • progressive myoclonus epilepsy type 9
Mus musculus (house mouse)
DOID:0111448
  • progressive myoclonus epilepsy 1B
  • Aliases:
    • EPM1B
Homo sapiens (human)
DOID:0111447
  • progressive myoclonus epilepsy 7
  • Aliases:
    • EPM7
    • MEAK
    • Myoclonus epilepsy and ataxia due to potassium channel mutation
    • PME type 7
    • Progressive myoclonic epilepsy due to KV3.1 deficiency
    • Progressive myoclonus epilepsy type 7
Drosophila melanogaster (fruit fly)
DOID:0111447
  • progressive myoclonus epilepsy 7
  • Aliases:
    • EPM7
    • MEAK
    • Myoclonus epilepsy and ataxia due to potassium channel mutation
    • PME type 7
    • Progressive myoclonic epilepsy due to KV3.1 deficiency
    • Progressive myoclonus epilepsy type 7
Homo sapiens (human)
DOID:0111447
  • progressive myoclonus epilepsy 7
  • Aliases:
    • EPM7
    • MEAK
    • Myoclonus epilepsy and ataxia due to potassium channel mutation
    • PME type 7
    • Progressive myoclonic epilepsy due to KV3.1 deficiency
    • Progressive myoclonus epilepsy type 7
Mus musculus (house mouse)
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Last updated: December 9, 2024