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 7626 - 7650 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▲ Source
DOID:0112282
  • spondyloepiphyseal dysplasia Kimberley type
  • Aliases:
    • SEDK
Homo sapiens (human)
DOID:0080537
  • hypermanganesemia with dystonia 2
Homo sapiens (human)
DOID:13269
  • hereditary coproporphyria
  • Aliases:
    • Coproporphyrinogen oxidase deficiency
    • hereditary coproporphyria porphyria
Homo sapiens (human)
DOID:2537
  • inflammatory and toxic neuropathy
Homo sapiens (human)
DOID:2216
  • factor V deficiency
  • Aliases:
    • Hereditary hypoproaccelerinaemia
    • Labile factor deficiency
    • Proaccelerin deficiency
    • deficiency, labile
Homo sapiens (human)
DOID:0080844
  • omodysplasia 1
Homo sapiens (human)
DOID:3113
  • papillary carcinoma
Homo sapiens (human)
DOID:0110710
  • hypotrichosis 13
  • Aliases:
    • Hypt13
    • hypotrichosis with woolly hair
Homo sapiens (human)
DOID:0110871
  • congenital stationary night blindness 2A
  • Aliases:
    • congenital stationary night blindness 2A X-linked
Homo sapiens (human)
DOID:14184
  • polyneuropathy due to drug
Homo sapiens (human)
DOID:0110196
  • Charcot-Marie-Tooth disease type 4G
  • Aliases:
    • CMT4G
    • Charcot-Marie-Tooth neuropathy type 4G
    • HMSNR
    • autosomal recessive Charcot-Marie-Tooth disease type 4G
    • hereditary motor and sensory neuropathy Russe type
Homo sapiens (human)
DOID:9408
  • acute myocardial infarction
Homo sapiens (human)
DOID:0110713
  • Oguchi disease-2
  • Aliases:
    • CSNBO2
    • congenital stationary night blindness Oguchi type 2
Homo sapiens (human)
DOID:891
  • progressive myoclonus epilepsy
  • Aliases:
    • PME
    • progressive myoclonic epilepsy
Homo sapiens (human)
DOID:0081213
  • autosomal recessive intellectual developmental disorder 50
Homo sapiens (human)
DOID:0080991
  • congenital myopathy 1B
  • Aliases:
    • multiminicore disease
Homo sapiens (human)
DOID:3211
  • lysosomal storage disease
  • Aliases:
    • disorder of lysosomal enzyme
    • inborn lysosomal enzyme disorder
    • lysosomal storage metabolism disorder
Homo sapiens (human)
DOID:8432
  • polycythemia
  • Aliases:
    • Erythrocythemia
Homo sapiens (human)
DOID:0110569
  • autosomal dominant nonsyndromic deafness 44
  • Aliases:
    • DFNA44
    • autosomal dominant deafness 44
Homo sapiens (human)
DOID:0080548
  • Noonan syndrome with multiple lentigines 1
  • Aliases:
    • LEOPARD syndrome 1
Homo sapiens (human)
DOID:0111707
  • Bothnian type palmoplantar keratoderma
  • Aliases:
    • PPKB
    • diffuse palmoplantar keratoderma, Bothnian type
Homo sapiens (human)
DOID:0070380
  • developmental and epileptic encephalopathy 85
  • Aliases:
    • DEE85
    • early infantile epileptic encephalopathy 85
Homo sapiens (human)
DOID:0111676
  • high molecular weight kininogen deficiency
  • Aliases:
    • Fitzgerald trait
    • HMWK deficiency
    • congenital high-molecular-weight kininogen deficiency
Homo sapiens (human)
DOID:0060611
  • abdominal obesity-metabolic syndrome
Homo sapiens (human)
DOID:0080154
  • short chain acyl-CoA dehydrogenase deficiency
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