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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 8551 - 8575 of 15957 in total
Disease ID Disease Name Gene Symbol ▲ Gene ID Organism Source
DOID:3911
  • progeria
  • Aliases:
    • HGPS
    • Hutchinson Gilford syndrome
    • Hutchinson-Gilford Progeria syndrome
    • Hutchinson-Gilford disease
Rattus norvegicus (Norway rat)
DOID:0060785
  • adult-onset autosomal dominant demyelinating leukodystrophy
  • Aliases:
    • ADLD
    • adult-onset autosomal dominant leukodystrophy
    • autosomal-dominant or late-onset type Pelizaeus-Merzbacher disease
Mus musculus (house mouse)
DOID:0080299
  • partial lipodystrophy
Mus musculus (house mouse)
DOID:0111450
  • progressive myoclonus epilepsy 9
  • Aliases:
    • EMP9
    • PME type 9
    • progressive myoclonic epilepsy due to LMNB2 deficiency
    • progressive myoclonus epilepsy type 9
Mus musculus (house mouse)
DOID:8488
  • polyhydramnios
Rattus norvegicus (Norway rat)
DOID:8488
  • polyhydramnios
Mus musculus (house mouse)
DOID:0111274
  • CODAS syndrome
  • Aliases:
    • cerebral, ocular, dental, auricular, and skeletal syndrome
    • cerebro-oculo-dento-auriculo-skeletal syndrome
Mus musculus (house mouse)
DOID:0110525
  • autosomal recessive nonsyndromic deafness 77
  • Aliases:
    • DFNB77
    • autosomal recessive deafness 77
Mus musculus (house mouse)
DOID:0110705
  • hypotrichosis 8
  • Aliases:
    • Hypt8
    • Lah3
    • hypotrichosis, localized, autosomal recessive 3
Mus musculus (house mouse)
DOID:0110705
  • hypotrichosis 8
  • Aliases:
    • Hypt8
    • Lah3
    • hypotrichosis, localized, autosomal recessive 3
Rattus norvegicus (Norway rat)
DOID:14118
  • familial lipoprotein lipase deficiency
  • Aliases:
    • Fredrickson type I hyperlipoproteinemia
    • Fredrickson type I lipaemia
    • familial LPL deficiency
    • familial hyperlipoproteinemia type I
    • hypercholesterinaemic xanthomatosis
    • hyperchylomicronemia
    • mixed hyperglyceridemia
Mus musculus (house mouse)
DOID:14118
  • familial lipoprotein lipase deficiency
  • Aliases:
    • Fredrickson type I hyperlipoproteinemia
    • Fredrickson type I lipaemia
    • familial LPL deficiency
    • familial hyperlipoproteinemia type I
    • hypercholesterinaemic xanthomatosis
    • hyperchylomicronemia
    • mixed hyperglyceridemia
Rattus norvegicus (Norway rat)
DOID:0081151
  • common variable immunodeficiency 8
  • Aliases:
    • common variable immunodeficiency-8 (CVID8) with autoimmunity
Mus musculus (house mouse)
DOID:0060917
  • facioscapulohumeral muscular dystrophy 3
  • Aliases:
    • FSHD3
    • facioscapulohumeral muscular dystrophy type 3
Mus musculus (house mouse)
DOID:0110864
  • congenital stationary night blindness 1F
  • Aliases:
    • CSNB1F
    • congenital stationary night blindness 1F autosomal recessive
Mus musculus (house mouse)
DOID:0060327
  • omphalocele
  • Aliases:
    • omphalocoele
Mus musculus (house mouse)
DOID:0080751
  • keratosis pilaris atrophicans
Mus musculus (house mouse)
DOID:0060327
  • omphalocele
  • Aliases:
    • omphalocoele
Rattus norvegicus (Norway rat)
DOID:0080751
  • keratosis pilaris atrophicans
Rattus norvegicus (Norway rat)
DOID:0081382
  • amyotrophic lateral sclerosis type 28
Mus musculus (house mouse)
DOID:0081297
  • oculopharyngodistal myopathy 1
Mus musculus (house mouse)
DOID:0090144
  • Donnai-Barrow syndrome
  • Aliases:
    • DBS/FOAR syndrome
    • FOAR syndrome
    • Holmes-Schepens syndrome
    • diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria
    • diaphragmatic hernia-exomphalos-hypertelorism syndrome
    • diaphragmatic hernia-hypertelorism-myopia-deafness syndrome
    • facio-oculo-acoustico-renal syndrome
    • faciooculoacousticorenal syndrome
    • syndrome of ocular and facial anomalies, telecanthus and deafness
Mus musculus (house mouse)
DOID:1062
  • Fanconi syndrome
  • Aliases:
    • Congenital Fanconi syndrome
    • De Toni-Fanconi syndrome
    • Fanconi-de Toni syndrome
    • Fanconi-de-Toni syndrome
    • Infantile nephropathic cystinosis
    • Lignac-Fanconi syndrome
    • adult Fanconi Anemia
    • adult Fanconi syndrome
    • deToni Fanconi syndrome
Rattus norvegicus (Norway rat)
DOID:11829
  • degenerative myopia
  • Aliases:
    • degenerative progressive high myopia
    • pathological myopia
    • progressive high (degenerative) myopia
    • progressive high myopia
Rattus norvegicus (Norway rat)
DOID:0090144
  • Donnai-Barrow syndrome
  • Aliases:
    • DBS/FOAR syndrome
    • FOAR syndrome
    • Holmes-Schepens syndrome
    • diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria
    • diaphragmatic hernia-exomphalos-hypertelorism syndrome
    • diaphragmatic hernia-hypertelorism-myopia-deafness syndrome
    • facio-oculo-acoustico-renal syndrome
    • faciooculoacousticorenal syndrome
    • syndrome of ocular and facial anomalies, telecanthus and deafness
Rattus norvegicus (Norway rat)
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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

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Last updated: December 9, 2024