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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 January 28, 2025
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 26 - 50 of 5716 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism Source
DOID:0080661
  • nonsyndromic aplasia cutis congenita
Homo sapiens (human)
DOID:0112141
  • retinitis pigmentosa 84
  • Aliases:
    • RP84
Homo sapiens (human)
DOID:0060212
  • amyotrophic lateral sclerosis type 21
  • Aliases:
    • ALS21
Homo sapiens (human)
DOID:0111576
  • dehydrated hereditary stomatocytosis 1
  • Aliases:
    • PSHK1
    • dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema
    • pseudohyperkalemia edinburgh
    • pseudohyperkalemia familial 1, due to red cell leak
Homo sapiens (human)
DOID:8670
  • eating disorder
Homo sapiens (human)
DOID:0112018
  • non-syndromic X-linked intellectual disability 104
  • Aliases:
    • MRX104
    • X-linked mental retardation 104
Homo sapiens (human)
DOID:0060936
  • dystonia 28, childhood-onset
  • Aliases:
    • DYSTONIA 28, CHILDHOOD-ONSET
    • DYT28
Homo sapiens (human)
DOID:0110551
  • autosomal dominant nonsyndromic deafness 21
  • Aliases:
    • DFNA21
    • autosomal dominant deafness 21
Homo sapiens (human)
DOID:0110465
  • autosomal recessive nonsyndromic deafness 104
  • Aliases:
    • DFNB104
    • autosomal recessive deafness 104
Homo sapiens (human)
DOID:0081138
  • agammaglobulinemia 6
Homo sapiens (human)
DOID:0070471
  • early-onset epilepsy 2
  • Aliases:
    • EPEO2
Homo sapiens (human)
DOID:0070417
  • neurodevelopmental disorder with speech impairment and dysmorphic facies
  • Aliases:
    • NEDSID
Homo sapiens (human)
DOID:0110994
  • Joubert syndrome 25
  • Aliases:
    • JBTS25
Homo sapiens (human)
DOID:0081236
  • autosomal recessive intellectual developmental disorder 77
Homo sapiens (human)
DOID:0081137
  • agammaglobulinemia 3
Homo sapiens (human)
DOID:0070400
  • hypomyelinating leukodystrophy 19
  • Aliases:
    • HLD19
Homo sapiens (human)
DOID:0111725
  • geleophysic dysplasia 1
  • Aliases:
    • GPHYSD1
Homo sapiens (human)
DOID:12712
  • nephronophthisis
  • Aliases:
    • medullary cystic disease
    • medullary cystic kidney
Mus musculus (house mouse)
DOID:0080142
  • mosaic variegated aneuploidy syndrome 2
Homo sapiens (human)
DOID:0111743
  • cerebellar ataxia type 47
  • Aliases:
    • SCA47
Homo sapiens (human)
DOID:0111694
  • familial adult myoclonic epilepsy 7
  • Aliases:
    • BAFME7
    • FAME7
    • FCMTE7
    • benign adult familial myoclonic epilepsy 7
    • familial cortical myoclonic tremor and epilepsy 7
Homo sapiens (human)
DOID:0080387
  • nephrotic syndrome type 12
Homo sapiens (human)
DOID:0081421
  • familial focal epilepsy with variable foci 1
Homo sapiens (human)
DOID:0070282
  • primary autosomal recessive microcephaly 8
  • Aliases:
    • MCPH8
Homo sapiens (human)
DOID:0111415
  • trichohepatoenteric syndrome 1
  • Aliases:
    • THES1
Homo sapiens (human)
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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: April 7, 2025