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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 3426 - 3450 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▲ Source
DOID:0110217
  • Leber congenital amaurosis 17
  • Aliases:
    • LCA17
Homo sapiens (human)
DOID:0060574
  • von Willebrand's disease 2
  • Aliases:
    • VWD type 2
    • VWD2
    • von Willebrand disease type 2
    • von Willebrand disease type II
Homo sapiens (human)
DOID:0110950
  • Waardenburg syndrome type 2A
  • Aliases:
    • WS2A
    • Waardenburg syndrome type IIA
Homo sapiens (human)
DOID:14250
  • Down syndrome
  • Aliases:
    • Complete trisomy 21 syndrome
    • Down's syndrome
    • Down's syndrome - trisomy 21
    • Downs syndrome
    • G Trisomy
    • trisomy 21 syndrome
Homo sapiens (human)
DOID:0081361
  • spastic quadriplegic cerebral palsy 3
  • Aliases:
    • CPSQ3
Homo sapiens (human)
DOID:118
  • pericardial effusion
Homo sapiens (human)
DOID:0060500
  • drug allergy
Homo sapiens (human)
DOID:0110661
  • congenital myasthenic syndrome 20
  • Aliases:
    • CMS20
    • congenital myasthenic syndrome 20 presynaptic
Homo sapiens (human)
DOID:0080209
  • sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
  • Aliases:
    • SIFD
Homo sapiens (human)
DOID:0060931
  • developmental dysplasia of the hip 1
  • Aliases:
    • DDH1
Homo sapiens (human)
DOID:3033
  • colon signet ring adenocarcinoma
  • Aliases:
    • Colonic Signet Ring adenocarcinoma
Homo sapiens (human)
DOID:0080687
  • reducing body myopathy 1B
Homo sapiens (human)
DOID:0080381
  • nephrotic syndrome type 13
Homo sapiens (human)
DOID:0050752
  • amyotrophic lateral sclerosis type 8
  • Aliases:
    • ALS8
    • amyotrophic lateral sclerosis 8
Homo sapiens (human)
DOID:1496
  • echinococcosis
  • Aliases:
    • Echinococcosis of liver
    • echinococcal disease
    • hepatic echinococcosis
    • hydatid disease
    • hydatidosis
    • liver echinococcus
    • pulmonary echinococcosis
Homo sapiens (human)
DOID:3314
  • angiomyolipoma
Homo sapiens (human)
DOID:0070030
  • ITM2B-related cerebral amyloid angiopathy 2
  • Aliases:
    • Cerebellar Ataxia, Cataract, Deafness, and Dementia Or Psychosis
    • FDD
    • Familial Danish Dementia
    • HOOE
    • Heredopathia Ophthalmootoencephalica
Homo sapiens (human)
DOID:0050745
  • diffuse large B-cell lymphoma
  • Aliases:
    • DLBCL
Homo sapiens (human)
DOID:13336
  • congenital toxoplasmosis
  • Aliases:
    • Toxoplasmosis - congen.
Homo sapiens (human)
DOID:0080030
  • spondyloepimetaphyseal dysplasia, Missouri type
Homo sapiens (human)
DOID:2366
  • West Nile fever
Homo sapiens (human)
DOID:0110521
  • autosomal recessive nonsyndromic deafness 70
  • Aliases:
    • DFNB70
    • autosomal recessive deafness 70
Homo sapiens (human)
DOID:0060695
  • hyperekplexia
  • Aliases:
    • Kok disease
    • congenital stiff man syndrome
    • familial startle disease
    • hereditary hyperekplexia
    • startle disease
Homo sapiens (human)
DOID:0111887
  • Diamond-blackfan anemia 3
  • Aliases:
    • DBA3
    • RPS24-related Diamond-Blackfan anemia
Homo sapiens (human)
DOID:14080
  • glucocorticoid-remediable aldosteronism
  • Aliases:
    • GRA
    • GRS
    • familial hyperaldosteronism type I
    • glucocorticoid-suppressible hyperaldosteronism
Homo sapiens (human)
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

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