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 901 - 925 of 4621 in total
Disease ID Disease Name Gene Symbol ▼ Gene ID Organism
DOID:1934
  • dysostosis
Homo sapiens (human)
DOID:4556
  • lung large cell carcinoma
  • Aliases:
    • large cell carcinoma of lung
    • large cell lung carcinoma
Homo sapiens (human)
DOID:2368
  • gangliosidosis
Homo sapiens (human)
DOID:0080071
  • mucolipidosis III alpha/beta
  • Aliases:
    • mucolipidosis III
    • pseudo-Hurler polydystrophy
Homo sapiens (human)
DOID:3321
  • GM2 gangliosidosis
  • Aliases:
    • gangliosidosis GM2
Homo sapiens (human)
DOID:13099
  • Moyamoya disease
  • Aliases:
    • progressive intracranial arterial occlusion
Homo sapiens (human)
DOID:9240
  • erythromelalgia
  • Aliases:
    • erythermalgia
Homo sapiens (human)
DOID:11589
  • Riley-Day syndrome
  • Aliases:
    • HSAN III
    • familial autonomic nervous dysfunction
    • familial dysautonomia
Homo sapiens (human)
DOID:0060363
  • glycerol kinase deficiency
Homo sapiens (human)
DOID:0050630
  • Aland Island eye disease
  • Aliases:
    • FORSIUS-ERIKSSON TYPE OCULAR ALBINISM
    • Forsius-Eriksson syndrome
Homo sapiens (human)
DOID:0060427
  • chromosome Xp21 deletion syndrome
  • Aliases:
    • Xp21 microdeletion syndrome
    • complex glycerol kinase deficiency
    • monosomy Xp21
Homo sapiens (human)
DOID:3125
  • multiple endocrine neoplasia
  • Aliases:
    • Multiple endocrine adenomatosis
    • Multiple endocrine neoplasia syndrome
Homo sapiens (human)
DOID:0060449
  • gelatinous drop-like corneal dystrophy
  • Aliases:
    • GDCD
    • corneal amyloidosis
    • primary familial amyloidosis of the cornea
    • subepithelial amyloidosis of the cornea
Homo sapiens (human)
DOID:0070230
  • benign recurrent intrahepatic cholestasis
  • Aliases:
    • BRIC
    • Summerskill-Walshe-Tygstrup syndrome
Homo sapiens (human)
DOID:5022
  • aflatoxins-related hepatocellular carcinoma
Homo sapiens (human)
DOID:6581
  • breast apocrine carcinoma
Homo sapiens (human)
DOID:0111257
  • gamma-glutamyl transpeptidase deficiency
  • Aliases:
    • GGT deficiency
    • GGT1 deficiency
    • GTG deficiency
    • gamma-glutamyl transferase deficiency
    • glutathionuria
Homo sapiens (human)
DOID:9245
  • Alagille syndrome
  • Aliases:
    • Alagille-Watson syndrome
    • Arteriohepatic dysplasia
Homo sapiens (human)
DOID:0080546
  • non-alcoholic fatty liver
  • Aliases:
    • NAFL
    • nonalcoholic fatty liver
Homo sapiens (human)
DOID:0110660
  • congenital myasthenic syndrome 12
  • Aliases:
    • CMS12
    • congenital myasthenia 12 with tubular aggregates
Homo sapiens (human)
DOID:0110679
  • congenital myasthenic syndrome 4C
  • Aliases:
    • CMS Id
    • CMS1D
    • CMS4C
    • FIM1
    • congenital myasthenic syndrome 4C associated with acetylcholine receptor deficiency
    • congenital myasthenic syndrome type Id
    • familial infantile myasthenia 1
Homo sapiens (human)
DOID:0070330
  • multiple mitochondrial dysfunctions syndrome
  • Aliases:
    • fatal multiple mitochondrial dysfunction syndrome
Homo sapiens (human)
DOID:0111256
  • hyperferritinemia-cataract syndrome
  • Aliases:
    • Bonneau-Beaumont syndrome
    • HHCS
    • HRFTC
    • cataract-hyperferritinemia syndrome
    • hereditary hyperferritinemia with congenital cataracts
    • hereditary hyperferritinemia-cataract syndrome
    • hyperferritinemia with or without cataract
Homo sapiens (human)
DOID:0111681
  • glutamate-cysteine ligase deficiency
  • Aliases:
    • gamma-glutamylcysteine synthetase deficiency
    • hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency
Homo sapiens (human)
DOID:0111100
  • maturity-onset diabetes of the young type 2
  • Aliases:
    • MODY glucokinase-related
    • MODY type 2
    • MODY2
Homo sapiens (human)

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Last updated: August 19, 2024