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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 7826 - 7850 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism Source
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
Mus musculus (house mouse)
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
Mus musculus (house mouse)
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
Mus musculus (house mouse)
DOID:5212
  • congenital disorder of glycosylation
  • Aliases:
    • carbohydrate-deficient glycoprotein syndrome
Rattus norvegicus (Norway rat)
DOID:0070256
  • congenital disorder of glycosylation type IId
  • Aliases:
    • CDG IId
    • CDG2D
    • CDGIId
Rattus norvegicus (Norway rat)
DOID:0080978
  • arthrogryposis multiplex congenita-1
Mus musculus (house mouse)
DOID:0070422
  • syndromic X-linked intellectual disability Pilorge type
  • Aliases:
    • MRXSP
Rattus norvegicus (Norway rat)
DOID:0112207
  • developmental and epileptic encephalopathy 71
  • Aliases:
    • DEE71
    • early infantile epileptic encephalopathy 71
    • glutaminase deficiency with neonatal epileptic encephalopathy
Rattus norvegicus (Norway rat)
DOID:885
  • fascioliasis
  • Aliases:
    • Fasciola hepatica infection
    • Infection by Fasciola
    • Liver flukes
    • Sheep liver fluke infection
Rattus norvegicus (Norway rat)
DOID:0070217
  • familial hyperinsulinemic hypoglycemia 6
  • Aliases:
    • HHF6
    • HI/HA syndrome
    • hyperinsulinism-hyperammonemia syndrome
Rattus norvegicus (Norway rat)
DOID:9120
  • amyloidosis
  • Aliases:
    • amyloid disease
Rattus norvegicus (Norway rat)
DOID:3498
  • pancreatic ductal adenocarcinoma
  • Aliases:
    • ductal adenocarcinoma of the pancreas
Rattus norvegicus (Norway rat)
DOID:11206
  • opioid abuse
Rattus norvegicus (Norway rat)
DOID:0070038
  • autosomal dominant intellectual developmental disorder 8
  • Aliases:
    • MRD8
    • autosomal dominant mental retardation 8
    • autosomal dominant non-syndromic intellectual disability 8
Rattus norvegicus (Norway rat)
DOID:0070387
  • developmental and epileptic encephalopathy 101
  • Aliases:
    • DEE101
    • early infantile epileptic encephalopathy 101
Rattus norvegicus (Norway rat)
DOID:0070036
  • autosomal dominant intellectual developmental disorder 6
  • Aliases:
    • MRD6
    • autosomal dominant mental retardation 6
    • autosomal dominant non-syndromic intellectual disability 6
Rattus norvegicus (Norway rat)
DOID:0080444
  • developmental and epileptic encephalopathy 27
  • Aliases:
    • DEE27
    • early infantile epileptic encephalopathy 27
Rattus norvegicus (Norway rat)
DOID:0080456
  • developmental and epileptic encephalopathy 46
  • Aliases:
    • DEE46
    • early infantile epileptic encephalopathy 46
Rattus norvegicus (Norway rat)
DOID:6039
  • uveal melanoma
  • Aliases:
    • melanoma of Uvea
Rattus norvegicus (Norway rat)
DOID:0080286
  • spinocerebellar ataxia 44
Rattus norvegicus (Norway rat)
DOID:0080062
  • autosomal recessive spinocerebellar ataxia 13
  • Aliases:
    • SCAR13
Rattus norvegicus (Norway rat)
DOID:0110865
  • congenital stationary night blindness 1B
  • Aliases:
    • CSNB1B
    • autosomal recessive complete congenital stationary night blindness
    • congenital stationary night blindness 1B autosomal recessive
Rattus norvegicus (Norway rat)
DOID:12798
  • mucopolysaccharidosis
Rattus norvegicus (Norway rat)
DOID:12803
  • Sly syndrome
  • Aliases:
    • MPS VII - Sly syndrome
    • beta-glucuronidase deficiency
    • deficiency of beta-glucuronidase
    • mucopolysaccharidosis VII
Rattus norvegicus (Norway rat)
DOID:0110771
  • hereditary spastic paraplegia 18
  • Aliases:
    • IDMDC
    • SPG18
    • autosomal recessive spastic paraplegia 18
    • autosomal recessive spastic paraplegia type 18
    • intellectual disability, motor dysfunction and joint contractures
Mus musculus (house mouse)
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: August 19, 2024