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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 3551 - 3575 of 4649 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▼ Source
DOID:0080282
  • developmental and epileptic encephalopathy 56
  • Aliases:
    • DEE56
    • early infantile epileptic encephalopathy 56
Homo sapiens (human)
DOID:9810
  • polyarteritis nodosa
Homo sapiens (human)
DOID:3633
  • beta-mannosidosis
  • Aliases:
    • Beta-D-mannosidosis
    • beta-mannosidase deficiency
    • lysosomal beta-mannosidase deficiency
Homo sapiens (human)
DOID:0110218
  • Brugada syndrome 1
  • Aliases:
    • BRGDA1
Homo sapiens (human)
DOID:10587
  • Krabbe disease
  • Aliases:
    • Diffuse globoid body sclerosis
    • GLOBOID CELL LEUKOENCEPHALOPATHY
    • Galactosylceramide beta-galactosidase deficiency
    • Krabbe's disease
    • Krabbe's leukodystrophy
    • beta galactocerebrosidase deficiency
    • globoid cell leukodystrophy
Homo sapiens (human)
DOID:0110806
  • hereditary spastic paraplegia 54
  • Aliases:
    • SPG54
    • autosomal recessive spastic paraplegia 54
    • autosomal recessive spastic paraplegia type 54
Homo sapiens (human)
DOID:0080195
  • Marinesco-Sjogren syndrome
  • Aliases:
    • Garland-Moorhouse syndrome
    • Marinesco-Garland syndrome
    • Oligophrenic cerebellolenticular degeneration
    • hereditary oligophrenic cerebello-lental degeneration
Homo sapiens (human)
DOID:0111166
  • molybdenum cofactor deficiency type C
  • Aliases:
    • MOCOD type C
    • MOCODC
    • combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C
    • molybdenum cofactor deficiency complementation group C
Homo sapiens (human)
DOID:0081395
  • Harel-Yoon syndrome
  • Aliases:
    • Ocular anomalies-axonal neuropathy-developmental delay syndrome
Homo sapiens (human)
DOID:0111353
  • arthrogryposis, renal dysfunction, and cholestasis 1
  • Aliases:
    • ARCS1
Homo sapiens (human)
DOID:0081101
  • nonautoimmune hyperthyroidism
  • Aliases:
    • Congenital nonautoimmune hyperthyroidism
Homo sapiens (human)
DOID:5522
  • basaloid squamous cell carcinoma
  • Aliases:
    • Basaloid carcinoma
Homo sapiens (human)
DOID:9775
  • diastolic heart failure
Homo sapiens (human)
DOID:0112311
  • male infertility due to acephalic spermatozoa
Homo sapiens (human)
DOID:0080108
  • myoglobinuria
Homo sapiens (human)
DOID:10632
  • Wolfram syndrome
  • Aliases:
    • WFS
Homo sapiens (human)
DOID:0090136
  • complex cortical dysplasia with other brain malformations 6
  • Aliases:
    • CDCBM56
Homo sapiens (human)
DOID:11555
  • Fuchs' endothelial dystrophy
  • Aliases:
    • FCED
    • Fuchs' corneal dystrophy
    • Fuchs' endothelial corneal dystrophy
Homo sapiens (human)
DOID:0080975
  • intracranial berry aneurysm 12
Homo sapiens (human)
DOID:1024
  • leprosy
Homo sapiens (human)
DOID:0060603
  • isolated anhidrosis with normal sweat glands
  • Aliases:
    • Dann-Epstein-Sohar syndrome
Homo sapiens (human)
DOID:678
  • progressive supranuclear palsy
  • Aliases:
    • Steele-Richardson-Olszewski syndrome
    • progressive supranuclear ophthalmoplegia
Homo sapiens (human)
DOID:0111582
  • hereditary arterial and articular multiple calcification syndrome
  • Aliases:
    • CALJA
    • arterial calcification and distal joint calcification
    • arterial calcification due to CD73 deficiency
    • arterial calcification due to deficiency of CD73
    • calcification of joints and arteries
Homo sapiens (human)
DOID:0111390
  • mucopolysaccharidosis Ih
  • Aliases:
    • Dysostosis multiplex syndrome
    • Hurler disease MPS type 1H
    • Hurler-Pfaundler syndrome
    • L-iduronidase deficiency, Hurler type
    • MPS1-H
    • Mucopolysaccharidosis type I severe form
    • dysostosis multiplex
    • gargoylism
Homo sapiens (human)
DOID:0111377
  • fetal akinesia deformation sequence syndrome 1
  • Aliases:
    • FADS1
Homo sapiens (human)
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Last updated: February 17, 2025