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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 11426 - 11450 of 15957 in total
Disease ID Disease Name Gene Symbol ▼ Gene ID Organism Source
DOID:0050813
  • spondyloepiphyseal dysplasia with congenital joint dislocations
  • Aliases:
    • CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS
    • CHST3-Related Skeletal Dysplasia
    • Humero-spinal dysostosis with congenital heart disease
    • Kozlowski Celermajer Tink syndrome
    • Omani Type
    • Spondyloepiphyseal Dysplasia
    • humero-spinal dysostosis
    • humerospinal dysostosis
Rattus norvegicus (Norway rat)
DOID:0050813
  • spondyloepiphyseal dysplasia with congenital joint dislocations
  • Aliases:
    • CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS
    • CHST3-Related Skeletal Dysplasia
    • Humero-spinal dysostosis with congenital heart disease
    • Kozlowski Celermajer Tink syndrome
    • Omani Type
    • Spondyloepiphyseal Dysplasia
    • humero-spinal dysostosis
    • humerospinal dysostosis
Mus musculus (house mouse)
DOID:0080736
  • Ehlers-Danlos syndrome musculocontractural type 1
Mus musculus (house mouse)
DOID:0080736
  • Ehlers-Danlos syndrome musculocontractural type 1
Rattus norvegicus (Norway rat)
DOID:0080110
  • contractures, pterygia, and spondylocarpotarsal fusion syndrome
  • Aliases:
    • multiple pterygium syndrome
Rattus norvegicus (Norway rat)
DOID:0110678
  • congenital myasthenic syndrome 4A
  • Aliases:
    • CMS Ia1
    • CMS1A1
    • CMS4A
    • congenital myasthenic syndrome 4A slow-channel
    • congenital myasthenic syndrometype Ia1
Rattus norvegicus (Norway rat)
DOID:0110677
  • congenital myasthenic syndrome 4B
  • Aliases:
    • CMS4B
    • congenital myasthenic syndrome 4B fast-channel
Rattus norvegicus (Norway rat)
DOID:0110679
  • congenital myasthenic syndrome 4C
  • Aliases:
    • CMS Id
    • CMS1D
    • CMS4C
    • FIM1
    • congenital myasthenic syndrome 4C associated with acetylcholine receptor deficiency
    • congenital myasthenic syndrome type Id
    • familial infantile myasthenia 1
Rattus norvegicus (Norway rat)
DOID:0110678
  • congenital myasthenic syndrome 4A
  • Aliases:
    • CMS Ia1
    • CMS1A1
    • CMS4A
    • congenital myasthenic syndrome 4A slow-channel
    • congenital myasthenic syndrometype Ia1
Mus musculus (house mouse)
DOID:0110677
  • congenital myasthenic syndrome 4B
  • Aliases:
    • CMS4B
    • congenital myasthenic syndrome 4B fast-channel
Mus musculus (house mouse)
DOID:0110679
  • congenital myasthenic syndrome 4C
  • Aliases:
    • CMS Id
    • CMS1D
    • CMS4C
    • FIM1
    • congenital myasthenic syndrome 4C associated with acetylcholine receptor deficiency
    • congenital myasthenic syndrome type Id
    • familial infantile myasthenia 1
Mus musculus (house mouse)
DOID:0110665
  • congenital myasthenic syndrome 3B
  • Aliases:
    • CMS3B
    • congenital myasthenic syndrome 3B, fast-channel
Rattus norvegicus (Norway rat)
DOID:0110666
  • congenital myasthenic syndrome 3A
  • Aliases:
    • CMS3A
    • congenital myasthenic syndrome 3A, slow-channel
Rattus norvegicus (Norway rat)
DOID:0110664
  • congenital myasthenic syndrome 3C
  • Aliases:
    • congenital myasthenic syndrome 3C associated with acetylcholine receptor deficiency
Rattus norvegicus (Norway rat)
DOID:0110664
  • congenital myasthenic syndrome 3C
  • Aliases:
    • congenital myasthenic syndrome 3C associated with acetylcholine receptor deficiency
Mus musculus (house mouse)
DOID:0110666
  • congenital myasthenic syndrome 3A
  • Aliases:
    • CMS3A
    • congenital myasthenic syndrome 3A, slow-channel
Mus musculus (house mouse)
DOID:0110665
  • congenital myasthenic syndrome 3B
  • Aliases:
    • CMS3B
    • congenital myasthenic syndrome 3B, fast-channel
Mus musculus (house mouse)
DOID:8618
  • oral cavity cancer
  • Aliases:
    • malignant neoplasm of floor of mouth
Rattus norvegicus (Norway rat)
DOID:8618
  • oral cavity cancer
  • Aliases:
    • malignant neoplasm of floor of mouth
Mus musculus (house mouse)
DOID:0060681
  • autosomal dominant nocturnal frontal lobe epilepsy
  • Aliases:
    • ENFL
Rattus norvegicus (Norway rat)
DOID:0060684
  • autosomal dominant nocturnal frontal lobe epilepsy 3
  • Aliases:
    • ENFL3
    • nocturnal frontal lobe epilepsy 3
Rattus norvegicus (Norway rat)
DOID:0060681
  • autosomal dominant nocturnal frontal lobe epilepsy
  • Aliases:
    • ENFL
Mus musculus (house mouse)
DOID:0060684
  • autosomal dominant nocturnal frontal lobe epilepsy 3
  • Aliases:
    • ENFL3
    • nocturnal frontal lobe epilepsy 3
Mus musculus (house mouse)
DOID:0110680
  • congenital myasthenic syndrome 2C
  • Aliases:
    • CMS2C
    • congenital myasthenic syndrome 2C associated with acetylcholine receptor deficiency
Rattus norvegicus (Norway rat)
DOID:0110681
  • congenital myasthenic syndrome 2A
  • Aliases:
    • CMS2A
    • congenital myasthenic syndrome 2A slow-channel
Rattus norvegicus (Norway rat)
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Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024