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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 January 28, 2025
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 576 - 600 of 5716 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
Mus musculus (house mouse)
DOID:0060354
  • Stormorken syndrome
  • Aliases:
    • thrombocytopathy, asplenia and miosis
Homo sapiens (human)
DOID:0060354
  • Stormorken syndrome
  • Aliases:
    • thrombocytopathy, asplenia and miosis
Mus musculus (house mouse)
DOID:0060355
  • amyotrophic lateral sclerosis type 22
  • Aliases:
    • ALS22
    • 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
Homo sapiens (human)
DOID:0060363
  • glycerol kinase deficiency
Mus musculus (house mouse)
DOID:0060363
  • glycerol kinase deficiency
Homo sapiens (human)
DOID:0060363
  • glycerol kinase deficiency
Caenorhabditis elegans
DOID:0060365
  • mandibulofacial dysostosis with alopecia
  • Aliases:
    • MFDA
Mus musculus (house mouse)
DOID:0060365
  • mandibulofacial dysostosis with alopecia
  • Aliases:
    • MFDA
Homo sapiens (human)
DOID:0060366
  • Hennekam syndrome
  • Aliases:
    • Hennekam lymphangiectasia-lymphedema syndrome
    • lymphedem-lymphangiectasia-intellectual disability syndrome
Homo sapiens (human)
DOID:0060367
  • Parkinson's disease 1
  • Aliases:
    • autosomal dominant Parkinson disease 1
    • autosomal dominant Parkinson's disease 1
Mus musculus (house mouse)
DOID:0060367
  • Parkinson's disease 1
  • Aliases:
    • autosomal dominant Parkinson disease 1
    • autosomal dominant Parkinson's disease 1
Homo sapiens (human)
DOID:0060369
  • Parkinson's disease 6
  • Aliases:
    • PARK6
    • autosomal recessive early-onset Parkinson disease 6
    • autosomal recessive early-onset Parkinson's disease 6
    • early-onset Parkinson disease 6
Homo sapiens (human)
DOID:0060370
  • Parkinson's disease 7
  • Aliases:
    • autosomal recessive early-onset Parkinson disease 7
    • autosomal recessive early-onset Parkinson's disease 7
Homo sapiens (human)
DOID:0060370
  • Parkinson's disease 7
  • Aliases:
    • autosomal recessive early-onset Parkinson disease 7
    • autosomal recessive early-onset Parkinson's disease 7
Mus musculus (house mouse)
DOID:0060371
  • Parkinson's disease 8
  • Aliases:
    • autosomal dominant Parkinson disease 8
    • autosomal dominant Parkinson's disease 8
Homo sapiens (human)
DOID:0060372
  • Parkinson's disease 15
  • Aliases:
    • Parkinsonian-pyramidal syndrome
    • autosomal recessive early-onset Parkinson disease 15
    • autosomal recessive early-onset Parkinson's disease 15
    • pallidopyramidal syndrome
Homo sapiens (human)
DOID:0060374
  • orofaciodigital syndrome IV
  • Aliases:
    • Baraitser-Burn syndrome
    • OFD4
Homo sapiens (human)
DOID:0060386
  • Chilblain lupus
Homo sapiens (human)
DOID:0060387
  • chondrodysplasia Blomstrand type
  • Aliases:
    • Blomstrand lethal chondrodysplasia
Homo sapiens (human)
DOID:0060389
  • chromosome 10q23 deletion syndrome
Mus musculus (house mouse)
DOID:0060395
  • chromosome 15q24 deletion syndrome
  • Aliases:
    • 15q24 microdeletion syndrome
Homo sapiens (human)
DOID:0060409
  • NFIA-related disorder
  • Aliases:
    • 1p31p32 microdeletion syndrome
    • Chromosome 1, Monosomy 1p32
    • brain malformations with or without urinary tract defects
    • chromosome 1p32-p31 deletion syndrome
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 8, 2025