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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 13501 - 13525 of 15957 in total
Disease ID Disease Name Gene Symbol ▼ Gene ID Organism Source
DOID:12377
  • spinal muscular atrophy
Rattus norvegicus (Norway rat)
DOID:0111272
  • occipital horn syndrome
  • Aliases:
    • EDS IX
    • Ehlers-Danlos syndrome type 9
    • Ehlers-Danlos syndrome type IX
    • X-linked cutis laxa
Mus musculus (house mouse)
DOID:0111196
  • X-linked distal spinal muscular atrophy 3
  • Aliases:
    • ATP7A-related distal motor neuropathy
    • DSMAX
    • SMAX3
    • X-linked dHMN3
    • X-linked dSMA3
    • X-linked distal hereditary motor neuropathy type 3
    • X-linked recessive distal spinal muscular atrophy
Mus musculus (house mouse)
DOID:896
  • metal metabolism disorder
  • Aliases:
    • inborn metal metabolism disorder
Mus musculus (house mouse)
DOID:1838
  • Menkes disease
  • Aliases:
    • COPPER TRANSPORT DISEASE
    • Menkes kinky-hair syndrome
    • steely hair syndrome
Mus musculus (house mouse)
DOID:3144
  • cutis laxa
  • Aliases:
    • loose skin
Mus musculus (house mouse)
DOID:12377
  • spinal muscular atrophy
Mus musculus (house mouse)
DOID:890
  • mitochondrial encephalomyopathy
Mus musculus (house mouse)
DOID:5517
  • stomach carcinoma
  • Aliases:
    • cancer of the stomach
    • carcinoma of stomach
    • gastric carcinoma
Mus musculus (house mouse)
DOID:0080720
  • autosomal dominant congenital deafness with onychodystrophy
Mus musculus (house mouse)
DOID:0050873
  • follicular lymphoma
Mus musculus (house mouse)
DOID:0070129
  • autosomal recessive cutis laxa type IID
  • Aliases:
    • ARCL2D
Mus musculus (house mouse)
DOID:0112275
  • developmental and epileptic encephalopathy 93
  • Aliases:
    • DEE93
    • IECEE3
    • infantile or early childhood epileptic encephalopathy 3
Mus musculus (house mouse)
DOID:0112171
  • wrinkly skin syndrome
  • Aliases:
    • WSS
Mus musculus (house mouse)
DOID:0070134
  • autosomal recessive cutis laxa type IIA
  • Aliases:
    • ARCL2A
Mus musculus (house mouse)
DOID:0110942
  • autosomal recessive osteopetrosis 1
  • Aliases:
    • OPTB1
    • autosomal recessive Albers-Schonberg disease
    • infantile malignant osteopetrosis 1
Rattus norvegicus (Norway rat)
DOID:0070390
  • developmental and epileptic encephalopathy 104
  • Aliases:
    • DEE104
    • early infantile epileptic encephalopathy 104
Rattus norvegicus (Norway rat)
DOID:14219
  • renal tubular acidosis
Rattus norvegicus (Norway rat)
DOID:0070390
  • developmental and epileptic encephalopathy 104
  • Aliases:
    • DEE104
    • early infantile epileptic encephalopathy 104
Mus musculus (house mouse)
DOID:0110942
  • autosomal recessive osteopetrosis 1
  • Aliases:
    • OPTB1
    • autosomal recessive Albers-Schonberg disease
    • infantile malignant osteopetrosis 1
Mus musculus (house mouse)
DOID:14219
  • renal tubular acidosis
Mus musculus (house mouse)
DOID:0112002
  • immunodeficiency 47
  • Aliases:
    • CDG IIs
    • CDG2S
    • CDGIIs
    • IMD47
    • congenital disorder of glycosylation type IIs
    • immunodeficiency and hepatopathy with or without neurologic features
Rattus norvegicus (Norway rat)
DOID:0112002
  • immunodeficiency 47
  • Aliases:
    • CDG IIs
    • CDG2S
    • CDGIIs
    • IMD47
    • congenital disorder of glycosylation type IIs
    • immunodeficiency and hepatopathy with or without neurologic features
Mus musculus (house mouse)
DOID:0070464
  • mitochondrial complex V (ATP synthase) deficiency nuclear type 7
  • Aliases:
    • MC5DN7
Rattus norvegicus (Norway rat)
DOID:3652
  • Leigh disease
  • Aliases:
    • Infantile necrotizing encephalomyelopathy
    • Leigh syndrome
    • juvenile subacute necrotizing encephalomyelopathy
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