GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source Last Updated
Alliance of Genome Resources July 29, 2024
DisGeNET July 29, 2024
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 6001 - 6025 of 7942 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism
DOID:0060050
  • autoimmune disease of blood
Drosophila melanogaster (fruit fly)
DOID:3878
  • obsolete intestinal pseudo-obstruction
Homo sapiens (human)
DOID:8442
  • paralytic ileus
Homo sapiens (human)
DOID:0111225
  • centronuclear myopathy X-linked
  • Aliases:
    • CNMX
    • MTM1
    • X-linked myotubular myopathy
    • XLCNM
    • XLMTM
    • myotubular myopathy 1
Homo sapiens (human)
DOID:0050632
  • oculocutaneous albinism
Homo sapiens (human)
DOID:0060834
  • Griscelli syndrome type 3
  • Aliases:
    • GS3
    • Griscelli-Prunieras syndrome type 3
Homo sapiens (human)
DOID:0110949
  • Waardenburg syndrome type 3
  • Aliases:
    • Klein-Waardenburg syndrome
    • WS3
    • Waardenburg syndrome type III
    • Waardenburg syndrome with upper limb anomalies
Homo sapiens (human)
DOID:0060832
  • Griscelli syndrome type 1
  • Aliases:
    • GS1
    • Griscelli syndrome with neurological impairment
    • Griscelli syndrome, cutaneous and neurological type
    • Griscelli-Prunieras syndrome type 1
    • hypopigmentation-neurologic impairment syndrome
Homo sapiens (human)
DOID:0090100
  • ocular albinism with sensorineural deafness
  • Aliases:
    • WS2-OA
    • autosomal recessive Waardenburg syndrome type 2 with ocular albinism
    • digenic Waardenburg syndrome/albinism
    • digenic Waardenburg syndrome/ocular albinism
Homo sapiens (human)
DOID:9275
  • tyrosinemia
Homo sapiens (human)
DOID:0050726
  • tyrosinemia type I
  • Aliases:
    • hepatorenal tyrosinemia
Homo sapiens (human)
DOID:0050466
  • Loeys-Dietz syndrome
Homo sapiens (human)
DOID:0111389
  • mucopolysaccharidosis Ih/s
  • Aliases:
    • MPS1H/S
    • MPSIH/S
    • Mucopolysaccharidosis type 1H/S
Homo sapiens (human)
DOID:4723
  • intracranial hypotension
Homo sapiens (human)
DOID:1060
  • Hartnup disease
  • Aliases:
    • Neutral 1 amino acid transport defect
    • deficiency of tryptophan oxygenase
    • neutral amino acid transport defect
Homo sapiens (human)
DOID:0080555
  • congenital disorder of glycosylation Ic
  • Aliases:
    • congenital disorder of glycosylation 1c
Drosophila melanogaster (fruit fly)
DOID:3413
  • alpha-mannosidosis
  • Aliases:
    • Alpha-D-mannosidosis
    • alpha-mannosidase deficiency
    • deficiency of alpha-mannosidase
Drosophila melanogaster (fruit fly)
DOID:10754
  • otitis media
Drosophila melanogaster (fruit fly)
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
Drosophila melanogaster (fruit fly)
DOID:0111389
  • mucopolysaccharidosis Ih/s
  • Aliases:
    • MPS1H/S
    • MPSIH/S
    • Mucopolysaccharidosis type 1H/S
Drosophila melanogaster (fruit fly)
DOID:0060222
  • Scheie syndrome
  • Aliases:
    • mucopolysaccharidosis type 1S
    • mucopolysaccharidosis type IS
    • mucopolysaccharidosis type V
Drosophila melanogaster (fruit fly)
DOID:10808
  • gastric ulcer
  • Aliases:
    • acute gastric ulcer with haemorrhage and perforation
    • acute gastric ulcer with hemorrhage AND with perforation but without obstruction
    • acute gastric ulcer with hemorrhage and obstruction
    • acute gastric ulcer with hemorrhage and perforation
    • acute gastric ulcer with hemorrhage and perforation, with obstruction
    • acute gastric ulcer with hemorrhage and perforation, without mention of obstruction
    • acute gastric ulcer with hemorrhage, with obstruction
    • acute gastric ulcer with hemorrhage, with perforation AND with obstruction
    • acute gastric ulcer with perforation
    • acute gastric ulcer with perforation AND obstruction
    • acute gastric ulcer with perforation, with obstruction
    • acute gastric ulcer without hemorrhage and without perforation
    • acute gastric ulcer without hemorrhage, without perforation AND without obstruction
    • acute gastric ulcer without mention of hemorrhage or perforation, without mention of obstruction
    • bleeding acute gastric ulcer
    • chronic gastric ulcer without hemorrhage AND without perforation
    • chronic gastric ulcer without hemorrhage AND without perforation but with obstruction
    • chronic gastric ulcer without mention of hemorrhage or perforation, with obstruction
Drosophila melanogaster (fruit fly)
DOID:12802
  • mucopolysaccharidosis I
  • Aliases:
    • Hurler syndrome
    • Hurler-Scheie syndrome
    • Lipochondrodystrophy
    • MPS I - Hurler syndrome
    • Mucopolysaccharidosis, MPS-I
    • Mucopolysaccharidosis, type 1
    • iduronidase deficiency disease
Drosophila melanogaster (fruit fly)
DOID:4762
  • vasculogenic impotence
Homo sapiens (human)
DOID:0110676
  • congenital myasthenic syndrome 13
  • Aliases:
    • CMS13
    • CMSTA2
    • congenital myasthenic syndrome 13 with tubular aggregates
    • congenital myasthenic syndrome with tubular aggregates 2
Drosophila melanogaster (fruit fly)

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Last updated: August 19, 2024