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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 13301 - 13325 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism Source
DOID:0111308
  • familial febrile seizures 11
  • Aliases:
    • FEB11
    • familial febrile convulsions 11
Homo sapiens (human)
DOID:0050729
  • Chanarin-Dorfman syndrome
  • Aliases:
    • neutral lipid storage disease
Homo sapiens (human)
DOID:0080385
  • nephrotic syndrome type 11
Homo sapiens (human)
DOID:0080498
  • ovarian dysgenesis 6
Homo sapiens (human)
DOID:0080460
  • developmental and epileptic encephalopathy 34
  • Aliases:
    • DEE34
    • early infantile epileptic encephalopathy 34
Mus musculus (house mouse)
DOID:0111315
  • idiopathic generalized epilepsy 14
  • Aliases:
    • EIG14
Mus musculus (house mouse)
DOID:11724
  • limb-girdle muscular dystrophy
  • Aliases:
    • Erb's muscular dystrophy
    • Leyden-Mbius muscular dystrophy
    • limb girdle muscular dystrophy
Danio rerio (zebrafish)
DOID:0110635
  • muscular dystrophy-dystroglycanopathy type B5
  • Aliases:
    • FKRP-related congenital muscular dystrophy
    • MDC1C
    • MDDGB5
    • congenital muscular dystrophy 1C
    • muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5
    • muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5
Danio rerio (zebrafish)
DOID:0110299
  • autosomal recessive limb-girdle muscular dystrophy type 2I
  • Aliases:
    • LGMD2I
    • Limb-girdle muscular dystrophy due to FKRP deficiency
    • MDDGC5
    • muscular dystrophy limb-girdle type 2I
    • muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5
    • muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related
Danio rerio (zebrafish)
DOID:0111241
  • congenital muscular dystrophy-dystroglycanopathy type A5
  • Aliases:
    • MDDGA5
    • Walker-Warburg syndrome or muscle-eye-brain disease, FKRP-related
    • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5
Danio rerio (zebrafish)
DOID:0070456
  • hereditary spastic paraplegia 87
  • Aliases:
    • SPG87
    • autosomal recessive spastic paraplegia 87
Homo sapiens (human)
DOID:0060787
  • hypomyelinating leukodystrophy 2
  • Aliases:
    • HLD2
    • PMLD1
    • Pelizaeus-Merzbacher-like disease 1
    • Pelizaeus-Merzbacher-like disease due to GJC2 mutation
Homo sapiens (human)
DOID:0110796
  • hereditary spastic paraplegia 44
  • Aliases:
    • SPG44
    • autosomal recessive spastic paraplegia 44
Homo sapiens (human)
DOID:0070208
  • hereditary lymphedema IC
  • Aliases:
    • LMPH1C
Homo sapiens (human)
DOID:0060468
  • Holt-Oram syndrome
  • Aliases:
    • atrio-digital syndrome
    • atriodigital dysplasia
    • heart-hand syndrome
Homo sapiens (human)
DOID:2156
  • ovarian germ cell cancer
  • Aliases:
    • germ cell neoplasm of Ovary
    • germ cell tumor of ovary
Homo sapiens (human)
DOID:0111381
  • IVIC syndrome
  • Aliases:
    • Instituto Venezolano de Investigaciones Cientificas syndrome
    • OORS
    • Oculootoradial syndrome
    • oculo-oto-radial syndrome
    • radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia
Homo sapiens (human)
DOID:12557
  • Duane retraction syndrome
  • Aliases:
    • Duane's syndrome
    • Stilling-Turk-Duane syndrome
Homo sapiens (human)
DOID:0060747
  • Duane-radial ray syndrome
  • Aliases:
    • DR syndrome
    • Duane anomaly with radial ray abnormalities and deafness
    • Okihiro syndrome
    • acrorenocular syndrome
Homo sapiens (human)
DOID:0112056
  • X-linked intellectual disability-short stature-overweight syndrome
  • Aliases:
    • MRX12
    • MRX35
    • X-linked mental retardation 12
    • X-linked mental retardation 35
Homo sapiens (human)
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
Danio rerio (zebrafish)
DOID:0112378
  • muscular dystrophy-dystroglycanopathy type B3
  • Aliases:
    • MDDGB3
    • congenital muscular dystrophy POMGNT1-related
Danio rerio (zebrafish)
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
Danio rerio (zebrafish)
DOID:0110633
  • rigid spine muscular dystrophy 1
  • Aliases:
    • Eichsfeld type congenital muscular dystrophy
    • MDRS1
    • RSMD1
    • RSS
    • SEPN1-related myopathy
    • classic MmD
    • classic multiminicore disease
    • classic multiminicore myopathy
    • congenital merosin-positive muscular dystrophy with early spine rigidity
    • desmin-related myopathy with Mallory bodies
    • desmin-related myopathy with Mallory body-like inclusions
    • early-onset desmin-related myopathy
    • rigid spine syndrome
    • severe classic form minicore myopathy
    • severe classic form multicore myopathy
    • severe classic form multiminicore disease
Homo sapiens (human)
DOID:0060450
  • Lisch epithelial corneal dystrophy
  • Aliases:
    • LECD
    • band-shaped and whorled microcystic
Homo sapiens (human)
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Last updated: December 9, 2024