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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 12751 - 12775 of 15957 in total
Disease ID ▼ Disease Name Gene Symbol Gene ID Organism Source
DOID:0070537
  • spastic tetraplegia, thin corpus callosum, and progressive microcephaly
  • Aliases:
    • SPATCCM
Homo sapiens (human)
DOID:0070537
  • spastic tetraplegia, thin corpus callosum, and progressive microcephaly
  • Aliases:
    • SPATCCM
Mus musculus (house mouse)
DOID:0070537
  • spastic tetraplegia, thin corpus callosum, and progressive microcephaly
  • Aliases:
    • SPATCCM
Caenorhabditis elegans
DOID:0070536
  • neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
  • Aliases:
    • NEDHLSS
Drosophila melanogaster (fruit fly)
DOID:0070536
  • neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
  • Aliases:
    • NEDHLSS
Xenopus laevis (African clawed frog)
DOID:0070536
  • neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
  • Aliases:
    • NEDHLSS
Rattus norvegicus (Norway rat)
DOID:0070536
  • neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
  • Aliases:
    • NEDHLSS
Xenopus tropicalis (tropical clawed frog)
DOID:0070536
  • neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
  • Aliases:
    • NEDHLSS
Homo sapiens (human)
DOID:0070536
  • neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
  • Aliases:
    • NEDHLSS
Danio rerio (zebrafish)
DOID:0070536
  • neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
  • Aliases:
    • NEDHLSS
Mus musculus (house mouse)
DOID:0070529
  • Sifrim-Hitz-Weiss syndrome
  • Aliases:
    • CHD4 Neurodevelopmental Disorder
    • CHD4-related neurodevelopmental disorder
    • CHD4-related neurodevelopmental syndrome
    • SIFRIM-HITZ-WEISS MULTIPLE CONGENITAL ANOMALIES-MENTAL RETARDATION SYNDROME
    • SIHIWES
Homo sapiens (human)
DOID:0070529
  • Sifrim-Hitz-Weiss syndrome
  • Aliases:
    • CHD4 Neurodevelopmental Disorder
    • CHD4-related neurodevelopmental disorder
    • CHD4-related neurodevelopmental syndrome
    • SIFRIM-HITZ-WEISS MULTIPLE CONGENITAL ANOMALIES-MENTAL RETARDATION SYNDROME
    • SIHIWES
Mus musculus (house mouse)
DOID:0070526
  • PLACK syndrome
  • Aliases:
    • peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads
Homo sapiens (human)
DOID:0070526
  • PLACK syndrome
  • Aliases:
    • peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads
Mus musculus (house mouse)
DOID:0070525
  • peeling skin syndrome 6
  • Aliases:
    • PSS6
Homo sapiens (human)
DOID:0070525
  • peeling skin syndrome 6
  • Aliases:
    • PSS6
Mus musculus (house mouse)
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)
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Last updated: December 9, 2024