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 9851 - 9875 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▲ Source
DOID:0080501
  • GM1 gangliosidosis type 2
  • Aliases:
    • juvenile GM1 gangliosidosis
Mus musculus (house mouse)
DOID:0060870
  • isolated growth hormone deficiency
  • Aliases:
    • IGHD
    • congenital IGHD
    • congenital isolated GH deficiency
    • congenital isolated growth hormone deficiency
    • familial isolated growth hormone deficiency
    • non-acquired isolated growth hormone deficiency
Mus musculus (house mouse)
DOID:1390
  • hypobetalipoproteinemia
  • Aliases:
    • Hypo-beta-lipoproteinemia
Mus musculus (house mouse)
DOID:0110670
  • congenital myasthenic syndrome 9
  • Aliases:
    • CMS9
    • congenital myasthenic syndrome 9, associated with acetylcholine receptor deficiency
Mus musculus (house mouse)
DOID:1556
  • arthus reaction
  • Aliases:
    • Arthus phenomenon
    • Arthus type urticaria
Mus musculus (house mouse)
DOID:0081007
  • RNASET2-deficient cystic leukoencephalopathy
  • Aliases:
    • cystic leukoencephalopathy without megalencephaly
    • infantile-onset RNASET2 deficient cystic leukoencephalopathy
Mus musculus (house mouse)
DOID:643
  • progressive multifocal leukoencephalopathy
Mus musculus (house mouse)
DOID:668
  • myositis ossificans
  • Aliases:
    • Myisitis ossificans
    • Ossification - muscle
Mus musculus (house mouse)
DOID:9563
  • bronchiectasis
  • Aliases:
    • Polynesian bronchiectasis
Mus musculus (house mouse)
DOID:0111866
  • trichothiodystrophy
  • Aliases:
    • TTD
Mus musculus (house mouse)
DOID:2723
  • dermatitis
  • Aliases:
    • eczema
    • skin inflammation
Mus musculus (house mouse)
DOID:0080589
  • Klippel-Feil syndrome 1
Mus musculus (house mouse)
DOID:0050667
  • alcohol-related neurodevelopmental disorder
  • Aliases:
    • ARND
    • static encephalopathy
Mus musculus (house mouse)
DOID:0110734
  • neurodegeneration with brain iron accumulation
  • Aliases:
    • NBIA
Mus musculus (house mouse)
DOID:0112202
  • developmental and epileptic encephalopathy
Mus musculus (house mouse)
DOID:0060284
  • paroxysmal nocturnal hemoglobinuria
Mus musculus (house mouse)
DOID:0070538
  • syndromic X-linked intellectual developmental disorder bain type
  • Aliases:
    • HNRNPH2-RNDD
    • HNRNPH2-related neurodevelopmental disorder
    • MRXSB
    • Mental Retardation, X-linked, Syndrome, Bain Type
Mus musculus (house mouse)
DOID:9478
  • postpartum depression
  • Aliases:
    • Maternity blues
    • postnatal depression
Mus musculus (house mouse)
DOID:305
  • carcinoma
  • Aliases:
    • epithelial cancer
    • epithelioma
    • malignant Epithelioma
Mus musculus (house mouse)
DOID:0070036
  • autosomal dominant intellectual developmental disorder 6
  • Aliases:
    • MRD6
    • autosomal dominant mental retardation 6
    • autosomal dominant non-syndromic intellectual disability 6
Mus musculus (house mouse)
DOID:1573
  • communicating hydrocephalus
Mus musculus (house mouse)
DOID:1681
  • heart septal defect
  • Aliases:
    • Cardiac septal defects
    • Congenital septal defect of heart
    • septal defect
Mus musculus (house mouse)
DOID:0050155
  • sensory system disease
Mus musculus (house mouse)
DOID:0070059
  • autosomal dominant intellectual developmental disorder 29
  • Aliases:
    • MRD29
    • autosomal dominant mental retardation 29
    • autosomal dominant non-syndromic intellectual disability 29
Mus musculus (house mouse)
DOID:2959
  • hyperimmunoglobulin syndrome
Mus musculus (house mouse)

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Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: February 17, 2025