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 6076 - 6100 of 7942 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism
DOID:0081221
  • autosomal recessive intellectual developmental disorder 59
Homo sapiens (human)
DOID:0110170
  • Charcot-Marie-Tooth disease axonal type 2Q
  • Aliases:
    • CMT2Q
    • Charcot-Marie-Tooth neuropathy type 2Q
    • autosomal dominant Charcot-Marie-Tooth disease type 2Q
    • autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q
Rattus norvegicus (Norway rat)
DOID:0111453
  • 2-aminoadipic 2-oxoadipic aciduria
  • Aliases:
    • AMOXAD
    • alpha-aminoadipic aciduria
Rattus norvegicus (Norway rat)
DOID:0111242
  • congenital muscular dystrophy-dystroglycanopathy type A6
  • Aliases:
    • MDDGA6
    • Walker-Warburg syndrome or muscle-eye-brain disease, LARGE-related
    • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A6
Rattus norvegicus (Norway rat)
DOID:0110637
  • muscular dystrophy-dystroglycanopathy type B6
  • Aliases:
    • MDC1D
    • MDDGB6
    • congenital muscular dystrophy LARGE-related
    • congenital muscular dystrophy type 1D
    • muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6
    • muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6
Rattus norvegicus (Norway rat)
DOID:11727
  • facioscapulohumeral muscular dystrophy
  • Aliases:
    • Landouzy Dejerine muscular dystrophy
    • Landouzy-Dejerine muscular dystrophy
    • Muscular dystrophy, Landouzy-Dejerine
Rattus norvegicus (Norway rat)
DOID:4928
  • intrahepatic cholangiocarcinoma
  • Aliases:
    • Intrahepatic bile duct carcinoma
    • peripheral Cholangiocarcinoma
Rattus norvegicus (Norway rat)
DOID:0111352
  • D-2-hydroxyglutaric aciduria 2
  • Aliases:
    • D2HGA2
Rattus norvegicus (Norway rat)
DOID:0080005
  • bone remodeling disease
Rattus norvegicus (Norway rat)
DOID:0110658
  • congenital myasthenic syndrome 15
  • Aliases:
    • CMS15
    • congenital myasthenic syndrome 15 without tubular aggregates
Rattus norvegicus (Norway rat)
DOID:1682
  • congenital heart disease
  • Aliases:
    • Congenital Heart Defects
    • Congenital anomaly of heart
    • Heart Malformation
    • congenital heart defect
    • heart defect
Rattus norvegicus (Norway rat)
DOID:0050559
  • Fukuyama congenital muscular dystrophy
Rattus norvegicus (Norway rat)
DOID:0110296
  • autosomal recessive limb-girdle muscular dystrophy type 2M
  • Aliases:
    • LGMD2M
    • MDDGC4
    • muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4
Rattus norvegicus (Norway rat)
DOID:0112379
  • muscular dystrophy-dystroglycanopathy type B4
  • Aliases:
    • MDDGB4
    • congenital muscular dystrophy FKTN-related
Rattus norvegicus (Norway rat)
DOID:0110444
  • dilated cardiomyopathy 1X
  • Aliases:
    • CMD1X
    • dilated cardiomyopathy with mild or no proximal muscle weakness
Rattus norvegicus (Norway rat)
DOID:0110443
  • dilated cardiomyopathy 1B
Rattus norvegicus (Norway rat)
DOID:0110284
  • autosomal recessive limb-girdle muscular dystrophy type 2L
  • Aliases:
    • LGMD2L
    • muscular dystrophy, limb-girdle, type 2L
Rattus norvegicus (Norway rat)
DOID:0080555
  • congenital disorder of glycosylation Ic
  • Aliases:
    • congenital disorder of glycosylation 1c
Rattus norvegicus (Norway rat)
DOID:0050453
  • lissencephaly
Rattus norvegicus (Norway rat)
DOID:0112378
  • muscular dystrophy-dystroglycanopathy type B3
  • Aliases:
    • MDDGB3
    • congenital muscular dystrophy POMGNT1-related
Rattus norvegicus (Norway rat)
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
Rattus norvegicus (Norway rat)
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
Rattus norvegicus (Norway rat)
DOID:3181
  • oligodendroglioma
  • Aliases:
    • oligodendroglial neoplasm
    • oligodendroglial tumor
Rattus norvegicus (Norway rat)
DOID:0111108
  • maturity-onset diabetes of the young type 10
  • Aliases:
    • MODY10
Homo sapiens (human)
DOID:0070014
  • autosomal dominant dyskeratosis congenita 1
  • Aliases:
    • DKCA1
    • Dyskeratosis Congenita, Scoggins Type
Homo sapiens (human)

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Last updated: August 19, 2024