Table Filtering
Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
Resources Genes Glycoproteins Lectins Glycolipids Glycans Pathways Diseases Organisms
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Other Information
Release Statistics Download
Tools
SugarDrawer GlycanBuilder Glycan Converters GlycoMaple GlycomeAtlas LM-GlycomeAtlas GALAXY MCAW GlycoSim GRable
Search Tools
Cross Search Glycan Search Publication Search Programmatic Access
Standards Ontologies Notations
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 5601 - 5625 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▲ Source
DOID:0070243
  • primary coenzyme Q10 deficiency 6
  • Aliases:
    • COQ10D6
    • coenzyme Q10 deficiency, primary, 6
    • familial steroid-resistant nephrotic syndrome with sensorineural deafness
Homo sapiens (human)
DOID:962
  • neurofibroma
Homo sapiens (human)
DOID:0060350
  • adenine phosphoribosyltransferase deficiency
  • Aliases:
    • 2,8-dihydroxyadenine urolithiasis
    • APRT deficiency
Homo sapiens (human)
DOID:0080284
  • developmental and epileptic encephalopathy 57
  • Aliases:
    • DEE57
    • early infantile epileptic encephalopathy 57
Homo sapiens (human)
DOID:0081268
  • pulmonary venoocclusive disease 1
Homo sapiens (human)
DOID:0111784
  • otopalatodigital syndrome type 2
  • Aliases:
    • Andre syndrome
    • OPD II syndrome
    • OPD syndrome 2
    • OPD2
    • faciopalatoosseous syndrome
    • oto-palato-digital syndrome type 2
    • otopalatodigital syndrome type II
Homo sapiens (human)
DOID:0111842
  • Keipert syndrome
  • Aliases:
    • KPTS
    • nasodigitoacoustic syndrome
Homo sapiens (human)
DOID:0080545
  • hyper IgE syndrome
  • Aliases:
    • hyper immunoglobulin E syndrome
Homo sapiens (human)
DOID:13544
  • low tension glaucoma
  • Aliases:
    • Normal tension glaucoma
Homo sapiens (human)
DOID:0080490
  • mucolipidosis type IV
Homo sapiens (human)
DOID:0070293
  • primary autosomal recessive microcephaly 2 with or without cortical malformations
  • Aliases:
    • MCPH2
Homo sapiens (human)
DOID:0070483
  • Watson syndrome
Homo sapiens (human)
DOID:0112135
  • severe congenital neutropenia 8
  • Aliases:
    • SCN8
    • SDSL
    • Shwachman-Diamond syndrome-like
    • autosomal dominant severe congenital neutropenia 8 with or without pancreatic dysfunction and/or neurological abnormalities
Homo sapiens (human)
DOID:0050156
  • idiopathic pulmonary fibrosis
  • Aliases:
    • FIBROCYSTIC PULMONARY DYSPLASIA
    • IDIOPATHIC PULMONARY FIBROSIS, FAMILIAL
    • cryptogenic fibrosing alveolitis
Homo sapiens (human)
DOID:0050604
  • acrocapitofemoral dysplasia
Homo sapiens (human)
DOID:4166
  • syphilis
  • Aliases:
    • syphilitic chancre
Homo sapiens (human)
DOID:9955
  • hypoplastic left heart syndrome
Homo sapiens (human)
DOID:14264
  • benign neonatal seizures
  • Aliases:
    • benign familial neonatal seizures
    • benign neonatal convulsions
Homo sapiens (human)
DOID:0060587
  • Noonan syndrome 9
  • Aliases:
    • NS9
Homo sapiens (human)
DOID:10322
  • berylliosis
  • Aliases:
    • beryllium poisoning
Homo sapiens (human)
DOID:11512
  • Budd-Chiari syndrome
  • Aliases:
    • hepatic vein thrombosis
Homo sapiens (human)
DOID:5804
  • discrete subaortic stenosis
Homo sapiens (human)
DOID:0110876
  • holoprosencephaly 7
  • Aliases:
    • HPE7
Homo sapiens (human)
DOID:0080566
  • congenital disorder of glycosylation In
  • Aliases:
    • congenital disorder of glycosylation 1n
Homo sapiens (human)
DOID:0060366
  • Hennekam syndrome
  • Aliases:
    • Hennekam lymphangiectasia-lymphedema syndrome
    • lymphedem-lymphangiectasia-intellectual disability syndrome
Homo sapiens (human)
Download data in CSV format Download data in TSV format Download data in JSON format
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