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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 12801 - 12825 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source ▼
DOID:0070524
  • peeling skin syndrome 5
  • Aliases:
    • PSS5
Caenorhabditis elegans
DOID:0070521
  • peeling skin syndrome 2
  • Aliases:
    • PSS2
Homo sapiens (human)
DOID:0070520
  • peeling skin syndrome 1
  • Aliases:
    • PSS1
    • generalized inflammatory peeling skin syndrome
    • inflammatory peeling skin syndrome
    • peeling skin syndrome type B
Homo sapiens (human)
DOID:0070519
  • early-onset vitamin B6-dependent epilepsy 4
  • Aliases:
    • AASA dehydrogenase deficiency
    • EPEO4
    • PDE-ALDH7A1
    • antiquitin deficiency
Mus musculus (house mouse)
DOID:0070519
  • early-onset vitamin B6-dependent epilepsy 4
  • Aliases:
    • AASA dehydrogenase deficiency
    • EPEO4
    • PDE-ALDH7A1
    • antiquitin deficiency
Homo sapiens (human)
DOID:0070517
  • retinal macular dystrophy 2
  • Aliases:
    • MCDR2
Drosophila melanogaster (fruit fly)
DOID:0070517
  • retinal macular dystrophy 2
  • Aliases:
    • MCDR2
Danio rerio (zebrafish)
DOID:0070517
  • retinal macular dystrophy 2
  • Aliases:
    • MCDR2
Caenorhabditis elegans
DOID:0070517
  • retinal macular dystrophy 2
  • Aliases:
    • MCDR2
Mus musculus (house mouse)
DOID:0070517
  • retinal macular dystrophy 2
  • Aliases:
    • MCDR2
Homo sapiens (human)
DOID:0070516
  • Mitchell syndrome
Drosophila melanogaster (fruit fly)
DOID:0070516
  • Mitchell syndrome
Saccharomyces cerevisiae S288C
DOID:0070516
  • Mitchell syndrome
Homo sapiens (human)
DOID:0070516
  • Mitchell syndrome
Mus musculus (house mouse)
DOID:0070515
  • chromosome 16p11.2 deletion syndrome, 593-kb
  • Aliases:
    • Proximal 16p11.2 microdeletion syndrome
Rattus norvegicus (Norway rat)
DOID:0070515
  • chromosome 16p11.2 deletion syndrome, 593-kb
  • Aliases:
    • Proximal 16p11.2 microdeletion syndrome
Drosophila melanogaster (fruit fly)
DOID:0070515
  • chromosome 16p11.2 deletion syndrome, 593-kb
  • Aliases:
    • Proximal 16p11.2 microdeletion syndrome
Xenopus tropicalis (tropical clawed frog)
DOID:0070515
  • chromosome 16p11.2 deletion syndrome, 593-kb
  • Aliases:
    • Proximal 16p11.2 microdeletion syndrome
Mus musculus (house mouse)
DOID:0070515
  • chromosome 16p11.2 deletion syndrome, 593-kb
  • Aliases:
    • Proximal 16p11.2 microdeletion syndrome
Homo sapiens (human)
DOID:0070514
  • neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
  • Aliases:
    • NEDDFL
Homo sapiens (human)
DOID:0070514
  • neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
  • Aliases:
    • NEDDFL
Drosophila melanogaster (fruit fly)
DOID:0070511
  • polyhydramnios, megalencephaly, and symptomatic epilepsy
  • Aliases:
    • PMSE
    • PMSE syndrome
    • Pretzel syndrome
Homo sapiens (human)
DOID:0070509
  • Schinzel Giedion syndrome
  • Aliases:
    • SGS
    • Schinzel-Giedion midface retraction syndrome
Mus musculus (house mouse)
DOID:0070509
  • Schinzel Giedion syndrome
  • Aliases:
    • SGS
    • Schinzel-Giedion midface retraction syndrome
Homo sapiens (human)
DOID:0070505
  • mitochondrial complex IV deficiency nuclear type 20
  • Aliases:
    • MC4DN20
Mus musculus (house mouse)
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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