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 76 - 100 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source
DOID:0111976
  • immunodeficiency 9
  • Aliases:
    • CID due to ORAI1 deficiency
    • IMD9
    • combined immunodeficiency due to ORAI1 deficiency
    • immune dysfunction with T-cell inactivation due to calcium entry defect 1
Homo sapiens (human)
DOID:0080473
  • developmental delay and seizures with or without movement abnormalities
Homo sapiens (human)
DOID:9362
  • status asthmaticus
  • Aliases:
    • Asthma with status asthmaticus
    • Severe asthma attack
Homo sapiens (human)
DOID:0050467
  • erythrokeratodermia variabilis
  • Aliases:
    • Erythrokeratodermia Figurata Variabilis
    • Greither Disease
Mus musculus (house mouse)
DOID:3234
  • central nervous system lymphoma
  • Aliases:
    • Microglioma
    • primary CNS lymphoma
Homo sapiens (human)
DOID:0060656
  • autosomal recessive congenital ichthyosis 1
  • Aliases:
    • ARCI1
Caenorhabditis elegans
DOID:0050588
  • muscular dystrophy-dystroglycanopathy type B1
  • Aliases:
    • CMD due to dystroglycanopathy
    • Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1
Homo sapiens (human)
DOID:0060108
  • brain glioma
  • Aliases:
    • lower grade glioma
Caenorhabditis elegans
DOID:9362
  • status asthmaticus
  • Aliases:
    • Asthma with status asthmaticus
    • Severe asthma attack
Caenorhabditis elegans
DOID:0050570
  • congenital disorder of glycosylation type I
Rattus norvegicus (Norway rat)
DOID:11252
  • microcytic anemia
Rattus norvegicus (Norway rat)
DOID:0090114
  • Sorsby's fundus dystrophy
  • Aliases:
    • SFD
    • hemorrhagic macular dystrophy
    • pseudoinflammatory fundus dystrophy of Sorsby
Mus musculus (house mouse)
DOID:0110669
  • congenital myasthenic syndrome 14
  • Aliases:
    • CMS14
    • CMSTA3
    • congenital myasthenic syndrome 14, with tubular aggregates
    • congenital myasthenic syndrome with tubular aggregates 3
Xenopus tropicalis (tropical clawed frog)
DOID:0112075
  • nuclear type mitochondrial complex I deficiency 10
  • Aliases:
    • MC1DN10
Homo sapiens (human)
DOID:0070158
  • hereditary sensory neuropathy type 1E
  • Aliases:
    • HSN1E
    • hereditary sensory neuropathy type IE
Homo sapiens (human)
DOID:0080771
  • beta-thalassemia major
  • Aliases:
    • Cooley's anemia
Danio rerio (zebrafish)
DOID:0080433
  • developmental and epileptic encephalopathy 51
  • Aliases:
    • DEE51
    • early infantile epileptic encephalopathy 51
Mus musculus (house mouse)
DOID:0050424
  • familial adenomatous polyposis
  • Aliases:
    • adenomatous polyposis of the colon
Homo sapiens (human)
DOID:9993
  • hypoglycemia
  • Aliases:
    • Hypoglycaemia
Rattus norvegicus (Norway rat)
DOID:12583
  • velocardiofacial syndrome
  • Aliases:
    • Shprintzen syndrome
    • VCF-Velocardiofacial syndrome
Mus musculus (house mouse)
DOID:4531
  • mucoepidermoid carcinoma
  • Aliases:
    • MEC
Xenopus laevis (African clawed frog)
DOID:14566
  • disease of cellular proliferation
  • Aliases:
    • cell process disease
    • neoplasm
Mus musculus (house mouse)
DOID:0080240
  • non-syndromic X-linked intellectual disability 106
  • Aliases:
    • MRX106
    • X-linked mental retardation 106
Xenopus laevis (African clawed frog)
DOID:1222
  • cartilage disease
  • Aliases:
    • Cartilage disorder
    • Chondropathy
Drosophila melanogaster (fruit fly)
DOID:1790
  • malignant mesothelioma
  • Aliases:
    • Diffuse malignant Mesothelioma
    • advanced malignant mesothelioma
    • asbestos-related malignant mesothelioma
    • malignant tumor of Mesothelium
Homo sapiens (human)

About Release Notes Help Feedback

Click here to visit the beta site.


International Collaboration

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


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.1.0

Last updated: December 9, 2024