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 1501 - 1525 of 7942 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism
DOID:3342
  • bone inflammation disease
  • Aliases:
    • Inflammatory disorder of bone
    • bone inflammatory disease
    • osteitis
Homo sapiens (human)
DOID:0060496
  • respiratory allergy
  • Aliases:
    • airway allergy
Homo sapiens (human)
DOID:0080176
  • meningococcal meningitis
Homo sapiens (human)
DOID:0050144
  • Kartagener syndrome
  • Aliases:
    • Kartagener's syndrome
Homo sapiens (human)
DOID:0080576
  • spondyloepimetaphyseal dysplasia, Genevieve-type
Drosophila melanogaster (fruit fly)
DOID:0080558
  • congenital disorder of glycosylation If
  • Aliases:
    • congenital disorder of glycosylation 1f
Danio rerio (zebrafish)
DOID:0080557
  • congenital disorder of glycosylation Ie
  • Aliases:
    • congenital disorder of glycosylation 1e
Xenopus laevis (African clawed frog)
DOID:0070253
  • congenital disorder of glycosylation type IIa
  • Aliases:
    • Alkuraya syndrome
    • CDG IIa
    • CDG2A
    • CDGIIa
    • CDGS2
    • carbohydrate-deficient glycoprotein syndrome, type II
    • congenital disorder of glycosylation, type IIa
    • mental retardation, growth retardation, prominent columella, and open mouth
Xenopus laevis (African clawed frog)
DOID:10584
  • retinitis pigmentosa
  • Aliases:
    • pericentral pigmentary retinopathy
Xenopus laevis (African clawed frog)
DOID:0110292
  • autosomal recessive limb-girdle muscular dystrophy type 2O
  • Aliases:
    • LGMD2O
    • MDDGC3
    • muscular dystrophy-dystroglycanopathy (limb-girdle) type C3
    • muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related
Xenopus laevis (African clawed frog)
DOID:0111236
  • congenital muscular dystrophy-dystroglycanopathy type A3
  • Aliases:
    • MDDGA3
    • Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related
    • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A3
Xenopus laevis (African clawed frog)
DOID:0112378
  • muscular dystrophy-dystroglycanopathy type B3
  • Aliases:
    • MDDGB3
    • congenital muscular dystrophy POMGNT1-related
Xenopus laevis (African clawed frog)
DOID:13757
  • excessive tearing
  • Aliases:
    • Epiphora
    • Excessive tear production
    • Watering eye
Homo sapiens (human)
DOID:9278
  • hyperargininemia
  • Aliases:
    • Arginase deficiency
    • argininemia
    • deficiency of canavanase
Homo sapiens (human)
DOID:1400
  • lacrimal apparatus disease
Homo sapiens (human)
DOID:0060485
  • Mowat-Wilson syndrome
  • Aliases:
    • Hirschsprung disease mental retardation syndrome
    • microcephaly, mental retardation, and distinct facial featrues, with or without Hirschprung disease
Homo sapiens (human)
DOID:0050432
  • Asperger syndrome
Homo sapiens (human)
DOID:0080505
  • Cornelia de Lange syndrome 1
Homo sapiens (human)
DOID:1929
  • supravalvular aortic stenosis
  • Aliases:
    • Supra-valvular aortic stenosis
Homo sapiens (human)
DOID:1928
  • Williams-Beuren syndrome
  • Aliases:
    • Fanconi Schlesinger syndrome
    • WBS
Homo sapiens (human)
DOID:3633
  • beta-mannosidosis
  • Aliases:
    • Beta-D-mannosidosis
    • beta-mannosidase deficiency
    • lysosomal beta-mannosidase deficiency
Homo sapiens (human)
DOID:0060740
  • methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
  • Aliases:
    • methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency
    • methylmalonic aciduria mut type
    • vitamin B12-unresponsive methylmalonic aciduria
Homo sapiens (human)
DOID:3413
  • alpha-mannosidosis
  • Aliases:
    • Alpha-D-mannosidosis
    • alpha-mannosidase deficiency
    • deficiency of alpha-mannosidase
Homo sapiens (human)
DOID:0080560
  • congenital disorder of glycosylation Ih
  • Aliases:
    • congenital disorder of glycosylation 1h
Homo sapiens (human)
DOID:1166
  • palindromic rheumatism
  • Aliases:
    • Hench's syndrome
    • Hench-Rosenberg syndrome
Homo sapiens (human)

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Last updated: August 19, 2024