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 1026 - 1050 of 4621 in total
Disease ID ▲ Disease Name Gene Symbol Gene ID Organism
DOID:0081180
  • autosomal recessive intellectual developmental disorder 12
Homo sapiens (human)
DOID:0081183
  • autosomal recessive intellectual developmental disorder 7
Homo sapiens (human)
DOID:0081188
  • autosomal recessive intellectual developmental disorder 14
Homo sapiens (human)
DOID:0081210
  • autosomal recessive intellectual developmental disorder 46
Homo sapiens (human)
DOID:0081215
  • autosomal recessive intellectual developmental disorder 52
Homo sapiens (human)
DOID:0081219
  • autosomal recessive intellectual developmental disorder 57
Homo sapiens (human)
DOID:0081221
  • autosomal recessive intellectual developmental disorder 59
Homo sapiens (human)
DOID:0081223
  • glycosylphosphatidylinositol biosynthesis defect 16
  • Aliases:
    • Intellectual developmental disorder, autosomal recessive 62
Homo sapiens (human)
DOID:0081243
  • rhizomelic chondrodysplasia punctate type 4
Homo sapiens (human)
DOID:0081267
  • graft-versus-host disease
  • Aliases:
    • GvHD
    • graft versus host disease
Homo sapiens (human)
DOID:0081292
  • traumatic brain injury
Homo sapiens (human)
DOID:0081312
  • T-cell non-Hodgkin lymphoma
Homo sapiens (human)
DOID:0081326
  • oxoglutarate dehydrogenase deficiency
  • Aliases:
    • Oxoglutaric aciduria
    • alpha-ketoglutarate dehydrogenase deficiency
Homo sapiens (human)
DOID:0081330
  • glycogen storage disease Ib
Homo sapiens (human)
DOID:0081331
  • glycogen storage disease Ic
Homo sapiens (human)
DOID:0081337
  • congenital myopathy
Homo sapiens (human)
DOID:0081376
  • obsolete sorbitol dehydrogenase deficiency with peripheral neuropathy
Homo sapiens (human)
DOID:0081381
  • juvenile amyotrophic lateral sclerosis type 27
Homo sapiens (human)
DOID:0081385
  • ataxia-telangiectasia-like disorder-2
  • Aliases:
    • PCNA-related progressive neurodegenerative photosensitivity syndrome
Homo sapiens (human)
DOID:0081419
  • childhood-onset dystonia with optic atrophy and basal ganglia abnormalities
  • Aliases:
    • DYSTONIA 29, CHILDHOOD-ONSET
    • DYTOABG
    • MECR-related neurologic disorder
    • MEPAN syndrome
    • Mitochondrial Enoyl CoA Reductase Protein-Associated Neurodegeneration
Homo sapiens (human)
DOID:0081427
  • autosomal recessive distal hereditary motor neuronopathy 8
  • Aliases:
    • SORDD
    • sorbitol dehydrogenase deficiency with peripheral neuropathy
Homo sapiens (human)
DOID:0090001
  • Fraser syndrome
  • Aliases:
    • cryptophthalmos with other malformations
Homo sapiens (human)
DOID:0090003
  • agenesis of the corpus callosum with peripheral neuropathy
  • Aliases:
    • Andermann syndrome
    • Charlevoix disease
    • corpus callosum agenesis-neuronopathy syndrome
Homo sapiens (human)
DOID:0090004
  • progressive pseudorheumatoid arthropathy of childhood
  • Aliases:
    • spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome
Homo sapiens (human)
DOID:0090005
  • Schwartz-Jampel syndrome 1
  • Aliases:
    • Aberfeld syndrome
    • Burton skeletal dysplasia
    • Burton syndrome
    • Catel-Hempel syndrome
    • Catel-Hempel type dysostosis enchondralis metaepiphysaria
    • Schwartz-Jampel syndrome type 1
    • Schwartz-Jampel-Aberfeld syndrome
    • myotonic chondrodystrophy
    • myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies
    • osteochondromuscular dystrophy
Homo sapiens (human)

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Supported by JST NBDC Grant Number JPMJND2204

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Last updated: August 19, 2024