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 4126 - 4150 of 4621 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▲
DOID:0110283
  • autosomal recessive limb-girdle muscular dystrophy type 2J
  • Aliases:
    • LGMD2J
    • muscular dystrophy, limb-girdle, type 2J
Homo sapiens (human)
DOID:0002116
  • pterygium
  • Aliases:
    • surfer's eye
Homo sapiens (human)
DOID:9854
  • lingual-facial-buccal dyskinesia
  • Aliases:
    • Oro-facial dyskinesia
Homo sapiens (human)
DOID:0050760
  • X-linked myopathy with excessive autophagy
  • Aliases:
    • XMEA
Homo sapiens (human)
DOID:9957
  • periostitis
Homo sapiens (human)
DOID:12175
  • dyshormonogenic goiter
  • Aliases:
    • dyshormonogenic goitre
Homo sapiens (human)
DOID:2283
  • keratopathy
Homo sapiens (human)
DOID:6712
  • anterior spinal artery syndrome
  • Aliases:
    • Anterior spinal artery occlusion syndrome
Homo sapiens (human)
DOID:14291
  • Noonan syndrome with multiple lentigines
  • Aliases:
    • Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome
    • Generalized lentiginosis
    • Gorlin syndrome II
    • LEOPARD syndrome
    • Lentiginosis profusa syndrome
    • Moynahan syndrome
    • Multiple lentigines syndrome
    • Progressive cardiomyopathic lentiginosis
Homo sapiens (human)
DOID:0090111
  • PCWH syndrome
  • Aliases:
    • Neurologic Waardenburg-Shah syndrome
    • PCWH
    • Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease
    • Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Hirschsprung disease-Waardenburg syndrome
Homo sapiens (human)
DOID:0080367
  • chronic eosinophilic leukemia
Homo sapiens (human)
DOID:14723
  • beta-ketothiolase deficiency
  • Aliases:
    • 2-methyl-3-hydroxybutyricacidemia
    • 3-ketothiolase deficiency
    • 3-oxothiolase deficiency
    • Mitochondrial acetoacetyl-CoA Thiolase deficiency
    • alpha-methylacetoaceticaciduria
    • peroxisomal thiolase deficiency
Homo sapiens (human)
DOID:0110006
  • 3-methylglutaconic aciduria type 4
  • Aliases:
    • 3-methylglutaconic aciduria type IV
    • MGA type IV
    • MGA4
    • MGCA4
Homo sapiens (human)
DOID:13353
  • diffuse interstitial keratitis
Homo sapiens (human)
DOID:9383
  • iridocyclitis
  • Aliases:
    • primary iridocyclitis
Homo sapiens (human)
DOID:0110278
  • autosomal recessive limb-girdle muscular dystrophy type 2D
  • Aliases:
    • Alpha-sarcoglycanopathy
    • DMDA2
    • Duchenne-like autosomal recessive muscular dystrophy type 2
    • LGMD2D
    • muscular dystrophy, limb-girdle, type 2D
    • primary adhalinopathy
Homo sapiens (human)
DOID:12679
  • nephrocalcinosis
Homo sapiens (human)
DOID:5327
  • retinal detachment
Homo sapiens (human)
DOID:0110774
  • hereditary spastic paraplegia 23
  • Aliases:
    • Lison syndrome
    • SPG23
    • Spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome
    • spastic paraplegia 23
    • spastic paraplegia with pigmentary abnormalities
Homo sapiens (human)
DOID:0110752
  • type 1 diabetes mellitus 13
  • Aliases:
    • IDDM13
    • Insulin-Dependent Diabetes Mellitus 13
Homo sapiens (human)
DOID:467
  • venous hemangioma
Homo sapiens (human)
DOID:0111898
  • CK syndrome
  • Aliases:
    • X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome
Homo sapiens (human)
DOID:139
  • squamous cell papilloma
  • Aliases:
    • Epidermoid papilloma
Homo sapiens (human)
DOID:0050558
  • Ullrich congenital muscular dystrophy
  • Aliases:
    • ULLRICH DISEASE
    • Ullrich scleroatonic muscular dystrophy
Homo sapiens (human)
DOID:13949
  • interstitial cystitis
  • Aliases:
    • ulcerative cystitis
Homo sapiens (human)

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Last updated: August 19, 2024