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 3926 - 3950 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism Source
DOID:0080042
  • autosomal recessive spinocerebellar ataxia 18
  • Aliases:
    • SCAR18
Mus musculus (house mouse)
DOID:0070387
  • developmental and epileptic encephalopathy 101
  • Aliases:
    • DEE101
    • early infantile epileptic encephalopathy 101
Mus musculus (house mouse)
DOID:0070038
  • autosomal dominant intellectual developmental disorder 8
  • Aliases:
    • MRD8
    • autosomal dominant mental retardation 8
    • autosomal dominant non-syndromic intellectual disability 8
Mus musculus (house mouse)
DOID:4377
  • egg allergy
  • Aliases:
    • Allergy to eggs
Mus musculus (house mouse)
DOID:0070036
  • autosomal dominant intellectual developmental disorder 6
  • Aliases:
    • MRD6
    • autosomal dominant mental retardation 6
    • autosomal dominant non-syndromic intellectual disability 6
Mus musculus (house mouse)
DOID:0080444
  • developmental and epileptic encephalopathy 27
  • Aliases:
    • DEE27
    • early infantile epileptic encephalopathy 27
Mus musculus (house mouse)
DOID:0080456
  • developmental and epileptic encephalopathy 46
  • Aliases:
    • DEE46
    • early infantile epileptic encephalopathy 46
Mus musculus (house mouse)
DOID:14320
  • generalized anxiety disorder
Mus musculus (house mouse)
DOID:8689
  • anorexia nervosa
Mus musculus (house mouse)
DOID:10966
  • lipoid nephrosis
  • Aliases:
    • Minimal Change Glomerulonephritis
    • Minimal change disease
    • Nephrotic syndrome with lesion of minimal change glomerulonephritis
    • Nephrotic syndrome with lesion of minimal change nephrotic syndrome
Mus musculus (house mouse)
DOID:0080286
  • spinocerebellar ataxia 44
Mus musculus (house mouse)
DOID:0080062
  • autosomal recessive spinocerebellar ataxia 13
  • Aliases:
    • SCAR13
Mus musculus (house mouse)
DOID:0110732
  • neuronal ceroid lipofuscinosis 11
  • Aliases:
    • CLN11
Mus musculus (house mouse)
DOID:0060672
  • Grn-related frontotemporal lobar degeneration with Tdp43 inclusions
Mus musculus (house mouse)
DOID:11088
  • asphyxia neonatorum
  • Aliases:
    • Asphyxia - birth
    • Asphyxia, in liveborn infant
    • Birth asphyxia
    • postnatal asphyxia
Mus musculus (house mouse)
DOID:0112252
  • glutathione synthetase deficiency of erythrocytes
  • Aliases:
    • glutathione synthetase deficiency without 5-oxoprolinuria
Mus musculus (house mouse)
DOID:0081034
  • glutatione synthetase deficiency with 5-oxoprolinuria
Mus musculus (house mouse)
DOID:0080699
  • glutathione synthetase deficiency
Mus musculus (house mouse)
DOID:2352
  • hemochromatosis
  • Aliases:
    • Haemochromatosis
    • diabetes bronze
    • iron storage disorder
Homo sapiens (human)
DOID:0111027
  • hemochromatosis type 2A
  • Aliases:
    • HFE2A
Homo sapiens (human)
DOID:0111230
  • congenital muscular dystrophy-dystroglycanopathy type A11
  • Aliases:
    • MDDGA11
    • Walker-Warburg syndrome or muscle-eye-brain disease B3GALNT2-related
    • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A11
Homo sapiens (human)
DOID:0080234
  • Clark-Baraitser syndrome
  • Aliases:
    • Baraitser syndrome
    • CLABARS
    • autosomal dominant intellectual disability 49
    • autosomal dominant mental retardation 49
Mus musculus (house mouse)
DOID:12932
  • endomyocardial fibrosis
  • Aliases:
    • African endomyocardial fibrosis
    • Becker's disease
    • Endomyocardial sclerosis
    • obscure African cardiomyopathy
Homo sapiens (human)
DOID:397
  • restrictive cardiomyopathy
  • Aliases:
    • Cardiomyopathy, constrictive
    • primary restrictive cardiomyopathy
Homo sapiens (human)
DOID:9477
  • pulmonary embolism
  • Aliases:
    • pulmonary artery embolism
    • pulmonary embolus
Homo sapiens (human)

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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