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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 9501 - 9525 of 15957 in total
Disease ID Disease Name Gene Symbol ▲ Gene ID Organism Source
DOID:0080285
  • developmental and epileptic encephalopathy 58
  • Aliases:
    • DEE58
    • early infantile epileptic encephalopathy 58
Rattus norvegicus (Norway rat)
DOID:0080202
  • adenoid cystic carcinoma
Rattus norvegicus (Norway rat)
DOID:0080694
  • Galloway-Mowat syndrome
Mus musculus (house mouse)
DOID:0080385
  • nephrotic syndrome type 11
Mus musculus (house mouse)
DOID:0080498
  • ovarian dysgenesis 6
Mus musculus (house mouse)
DOID:0080393
  • nephrotic syndrome type 18
Mus musculus (house mouse)
DOID:0060364
  • Galloway-Mowat syndrome 1
  • Aliases:
    • Galloway syndrome
    • SCAR5
    • autosomal recessive spinocerebellar ataxia 5
    • microcephaly, hiatal hernia and nephrotic syndrome
    • nephrosis-microcephaly syndrome
    • nephrosis-neuronal dysmigration syndrome
Mus musculus (house mouse)
DOID:0081272
  • Sandestig-Stefanova syndrome
Mus musculus (house mouse)
DOID:0080072
  • intestinal pseudo-obstruction
  • Aliases:
    • Chronic intestinal pseudo-obstruction
    • neuronal intestinal dysplasia
Mus musculus (house mouse)
DOID:0060956
  • dystonia 37, early-onset with striatal lesions
Mus musculus (house mouse)
DOID:0060956
  • dystonia 37, early-onset with striatal lesions
Drosophila melanogaster (fruit fly)
DOID:4751
  • striatonigral degeneration
Mus musculus (house mouse)
DOID:4751
  • striatonigral degeneration
Drosophila melanogaster (fruit fly)
DOID:4751
  • striatonigral degeneration
Rattus norvegicus (Norway rat)
DOID:0080227
  • autosomal dominant intellectual developmental disorder 55
  • Aliases:
    • autosomal dominant intellectual developmental disorder-55 with seizures
    • autosomal dominant mental retardation 55
Mus musculus (house mouse)
DOID:0080553
  • congenital disorder of glycosylation Iaa
  • Aliases:
    • congenital disorder of glycosylation 1aa
Mus musculus (house mouse)
DOID:8499
  • night blindness
  • Aliases:
    • nyctalopia
Mus musculus (house mouse)
DOID:0110870
  • congenital stationary night blindness 1A
  • Aliases:
    • CSNB1A
    • NBMI
    • complete CSNB X-linked
    • congenital stationary night blindness 1A X-linked
    • congenital stationary night blindness with myopia
    • hemeralopia-myopia
    • myopia-night blindness
Mus musculus (house mouse)
DOID:0050656
  • pseudo-TORCH syndrome 1
  • Aliases:
    • BLC-PMG
    • BLCPMG
    • Baraitser-Brett-Piesowicz syndrome
    • Baraitser-Reardon syndrome
    • PTORCH1
    • band-like calcification with simplified gyration and polymicrogyria
    • bilateral band-like calcification with polymicrogyria
    • microcephaly-intracranial calcification-intellectual disability syndrome
Homo sapiens (human)
DOID:1056
  • oculocerebrorenal syndrome
  • Aliases:
    • Lowe syndrome
    • lowe oculocerebrorenal syndrome
    • oculocerebrorenal syndrome of Lowe
Homo sapiens (human)
DOID:0110609
  • primary ciliary dyskinesia 23
  • Aliases:
    • CILD23
    • primary ciliary dyskinesia 23 with or without situs inversus
Homo sapiens (human)
DOID:0110624
  • primary ciliary dyskinesia 30
  • Aliases:
    • CILD30
    • primary ciliary dyskinesia 30 without situs inversus
Homo sapiens (human)
DOID:0081326
  • oxoglutarate dehydrogenase deficiency
  • Aliases:
    • Oxoglutaric aciduria
    • alpha-ketoglutarate dehydrogenase deficiency
Homo sapiens (human)
DOID:0070468
  • Yoon-Bellen neurodevelopmental syndrome
  • Aliases:
    • YOBELN
Homo sapiens (human)
DOID:3314
  • angiomyolipoma
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