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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 4976 - 5000 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source ▲
DOID:0081320
  • multiple synostoses syndrome 4
Danio rerio (zebrafish)
DOID:0081320
  • multiple synostoses syndrome 4
Homo sapiens (human)
DOID:0081320
  • multiple synostoses syndrome 4
Rattus norvegicus (Norway rat)
DOID:0081320
  • multiple synostoses syndrome 4
Mus musculus (house mouse)
DOID:0081321
  • contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A
  • Aliases:
    • Autosomal dominant multiple pterygium syndrome
Mus musculus (house mouse)
DOID:0081322
  • contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B
  • Aliases:
    • Autosomal recessive multiple pterygium syndrome
Mus musculus (house mouse)
DOID:0081324
  • neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss
  • Aliases:
    • NEDGTH
Mus musculus (house mouse)
DOID:0081325
  • developmental and epileptic encephalopathy 94
Saccharomyces cerevisiae S288C
DOID:0081325
  • developmental and epileptic encephalopathy 94
Homo sapiens (human)
DOID:0081326
  • oxoglutarate dehydrogenase deficiency
  • Aliases:
    • Oxoglutaric aciduria
    • alpha-ketoglutarate dehydrogenase deficiency
Caenorhabditis elegans
DOID:0081326
  • oxoglutarate dehydrogenase deficiency
  • Aliases:
    • Oxoglutaric aciduria
    • alpha-ketoglutarate dehydrogenase deficiency
Mus musculus (house mouse)
DOID:0081326
  • oxoglutarate dehydrogenase deficiency
  • Aliases:
    • Oxoglutaric aciduria
    • alpha-ketoglutarate dehydrogenase deficiency
Rattus norvegicus (Norway rat)
DOID:0081326
  • oxoglutarate dehydrogenase deficiency
  • Aliases:
    • Oxoglutaric aciduria
    • alpha-ketoglutarate dehydrogenase deficiency
Xenopus laevis (African clawed frog)
DOID:0081326
  • oxoglutarate dehydrogenase deficiency
  • Aliases:
    • Oxoglutaric aciduria
    • alpha-ketoglutarate dehydrogenase deficiency
Homo sapiens (human)
DOID:0081327
  • neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
  • Aliases:
    • NEDAMSS
Homo sapiens (human)
DOID:0081327
  • neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
  • Aliases:
    • NEDAMSS
Mus musculus (house mouse)
DOID:0081328
  • familial hyperinsulinemic hypoglycemia 8
Homo sapiens (human)
DOID:0081330
  • glycogen storage disease Ib
Homo sapiens (human)
DOID:0081331
  • glycogen storage disease Ic
Homo sapiens (human)
DOID:0081333
  • Wiedemann-Rautenstrauch syndrome
  • Aliases:
    • Neonatal progeroid syndrome
    • PROGEROID SYNDROME, NEONATAL
Homo sapiens (human)
DOID:0081335
  • Becker disease
Caenorhabditis elegans
DOID:0081336
  • Thomsen disease
  • Aliases:
    • Congenital myotonia, autosomal dominant form
    • Thomsen's disease
Caenorhabditis elegans
DOID:0081337
  • congenital myopathy
Drosophila melanogaster (fruit fly)
DOID:0081337
  • congenital myopathy
Mus musculus (house mouse)
DOID:0081337
  • congenital myopathy
Homo sapiens (human)
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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