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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 13926 - 13950 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism Source
DOID:0080836
  • growth hormone insensitivity syndrome with immune dysregulation 1
Homo sapiens (human)
DOID:0050566
  • X-linked nonsyndromic deafness
  • Aliases:
    • X-linked deafness
Mus musculus (house mouse)
DOID:0080837
  • growth hormone insensitivity syndrome with immune dysregulation 2
Homo sapiens (human)
DOID:0112147
  • retinitis pigmentosa 90
  • Aliases:
    • RP90
Mus musculus (house mouse)
DOID:0050981
  • spinocerebellar ataxia type 34
Homo sapiens (human)
DOID:0080089
  • tubular aggregate myopathy 1
Homo sapiens (human)
DOID:0111970
  • immunodeficiency 10
  • Aliases:
    • CID due to STIM1 deficiency
    • IMD10
    • STIM1 deficiency
    • combined immunodeficiency due to STIM1 deficiency
    • immune dysfunction with T-cell inactivation due to calcium entry defect 2
Homo sapiens (human)
DOID:0060354
  • Stormorken syndrome
  • Aliases:
    • thrombocytopathy, asplenia and miosis
Homo sapiens (human)
DOID:0080785
  • Brown-Vialetto-Van Laere syndrome 1
Danio rerio (zebrafish)
DOID:0080632
  • Fazio-Londe disease
  • Aliases:
    • riboflavin transporter deficiency neuronopathy
Danio rerio (zebrafish)
DOID:0111258
  • pentosuria
  • Aliases:
    • L-xylulose reductase deficiency
    • L-xylulosuria
    • PNTSU
    • essential pentosuria
    • xylitol dehydrogenase deficiency
Mus musculus (house mouse)
DOID:0050730
  • coenzyme Q10 deficiency disease
  • Aliases:
    • COENZYME Q10 DEFICIENCY, PRIMARY
Mus musculus (house mouse)
DOID:0070242
  • primary coenzyme Q10 deficiency 5
  • Aliases:
    • COQ10D5
    • coenzyme Q10 deficiency, primary, 5
    • encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
Mus musculus (house mouse)
DOID:0080467
  • developmental and epileptic encephalopathy 2
  • Aliases:
    • DEE2
    • EIEE2
    • X-linked infantile spasm syndrome 2
    • early infantile epileptic encephalopathy 2
Homo sapiens (human)
DOID:0111849
  • osteogenesis imperfecta type 20
  • Aliases:
    • OI20
    • osteogenesis imperfecta type XX
Mus musculus (house mouse)
DOID:0070114
  • Niemann-Pick disease type C2
  • Aliases:
    • NPC2
Mus musculus (house mouse)
DOID:0070122
  • Meckel syndrome 8
  • Aliases:
    • MKS8
    • Meckel-Gruber syndrome, type 8
Mus musculus (house mouse)
DOID:0110993
  • Joubert syndrome 24
  • Aliases:
    • JBTS24
Mus musculus (house mouse)
DOID:0080581
  • hyperekplexia 4
Mus musculus (house mouse)
DOID:0112367
  • Coffin-Siris syndrome 8
  • Aliases:
    • CSS8
Mus musculus (house mouse)
DOID:0080436
  • developmental and epileptic encephalopathy 4
  • Aliases:
    • DEE4
    • early infantile epileptic encephalopathy 4
Homo sapiens (human)
DOID:0110925
  • familial hemophagocytic lymphohistiocytosis 5
  • Aliases:
    • FHL5
    • HLH5
    • HPLH5
Homo sapiens (human)
DOID:0112139
  • nuclear type mitochondrial complex I deficiency 35
  • Aliases:
    • MC1DN35
Rattus norvegicus (Norway rat)
DOID:0111003
  • Joubert syndrome 8
  • Aliases:
    • JBTS8
Mus musculus (house mouse)
DOID:0112209
  • developmental and epileptic encephalopathy 73
  • Aliases:
    • DEE73
    • early infantile epileptic encephalopathy 73
Rattus norvegicus (Norway rat)
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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

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Last updated: December 9, 2024