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 1626 - 1650 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source ▲
DOID:0060352
  • Kleefstra syndrome 1
  • Aliases:
    • 9q subtelomeric deletion syndrome
    • 9q-syndrome
    • 9q34 deletion syndrome
Homo sapiens (human)
DOID:0060354
  • Stormorken syndrome
  • Aliases:
    • thrombocytopathy, asplenia and miosis
Mus musculus (house mouse)
DOID:0060354
  • Stormorken syndrome
  • Aliases:
    • thrombocytopathy, asplenia and miosis
Rattus norvegicus (Norway rat)
DOID:0060354
  • Stormorken syndrome
  • Aliases:
    • thrombocytopathy, asplenia and miosis
Caenorhabditis elegans
DOID:0060354
  • Stormorken syndrome
  • Aliases:
    • thrombocytopathy, asplenia and miosis
Drosophila melanogaster (fruit fly)
DOID:0060354
  • Stormorken syndrome
  • Aliases:
    • thrombocytopathy, asplenia and miosis
Homo sapiens (human)
DOID:0060355
  • amyotrophic lateral sclerosis type 22
  • Aliases:
    • ALS 22
    • amyotrohpic lateral sclerosis 22 with or without frontotemporal dementia
    • amyotrophic lateral sclerosis 22
Mus musculus (house mouse)
DOID:0060355
  • amyotrophic lateral sclerosis type 22
  • Aliases:
    • ALS 22
    • amyotrohpic lateral sclerosis 22 with or without frontotemporal dementia
    • amyotrophic lateral sclerosis 22
Homo sapiens (human)
DOID:0060356
  • Vici syndrome
  • Aliases:
    • immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum
Homo sapiens (human)
DOID:0060358
  • multiple acyl-CoA dehydrogenase deficiency
  • Aliases:
    • MAD deficiency
    • MADD
    • electron transfer flavoprotein deficiency
    • electron transfer flavoprotein ubiquinone oxidoreductase deficiency
    • glutaric acidemia type 2
    • glutaric aciduria type 2
Mus musculus (house mouse)
DOID:0060358
  • multiple acyl-CoA dehydrogenase deficiency
  • Aliases:
    • MAD deficiency
    • MADD
    • electron transfer flavoprotein deficiency
    • electron transfer flavoprotein ubiquinone oxidoreductase deficiency
    • glutaric acidemia type 2
    • glutaric aciduria type 2
Rattus norvegicus (Norway rat)
DOID:0060358
  • multiple acyl-CoA dehydrogenase deficiency
  • Aliases:
    • MAD deficiency
    • MADD
    • electron transfer flavoprotein deficiency
    • electron transfer flavoprotein ubiquinone oxidoreductase deficiency
    • glutaric acidemia type 2
    • glutaric aciduria type 2
Homo sapiens (human)
DOID:0060363
  • glycerol kinase deficiency
Rattus norvegicus (Norway rat)
DOID:0060363
  • glycerol kinase deficiency
Homo sapiens (human)
DOID:0060363
  • glycerol kinase deficiency
Mus musculus (house mouse)
DOID:0060363
  • glycerol kinase deficiency
Saccharomyces cerevisiae S288C
DOID:0060363
  • glycerol kinase deficiency
Caenorhabditis elegans
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
Homo sapiens (human)
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:0060365
  • mandibulofacial dysostosis with alopecia
  • Aliases:
    • MFDA
Homo sapiens (human)
DOID:0060365
  • mandibulofacial dysostosis with alopecia
  • Aliases:
    • MFDA
Rattus norvegicus (Norway rat)
DOID:0060365
  • mandibulofacial dysostosis with alopecia
  • Aliases:
    • MFDA
Mus musculus (house mouse)
DOID:0060366
  • Hennekam syndrome
  • Aliases:
    • Hennekam lymphangiectasia-lymphedema syndrome
    • lymphedem-lymphangiectasia-intellectual disability syndrome
Danio rerio (zebrafish)
DOID:0060366
  • Hennekam syndrome
  • Aliases:
    • Hennekam lymphangiectasia-lymphedema syndrome
    • lymphedem-lymphangiectasia-intellectual disability syndrome
Mus musculus (house mouse)
DOID:0060366
  • Hennekam syndrome
  • Aliases:
    • Hennekam lymphangiectasia-lymphedema syndrome
    • lymphedem-lymphangiectasia-intellectual disability syndrome
Homo sapiens (human)

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Last updated: December 9, 2024