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 13526 - 13550 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism Source
DOID:0111332
  • Pitt-Hopkins-like syndrome 2
  • Aliases:
    • PTHSL2
Rattus norvegicus (Norway rat)
DOID:0111594
  • distal arthrogryposis type 5D
  • Aliases:
    • DA5D
    • distal arthrogryposis type 5 without ophthalmoparesis
    • distal arthrogryposis type 5 without ophthalmoplegia
Rattus norvegicus (Norway rat)
DOID:0110672
  • congenital myasthenic syndrome 21
  • Aliases:
    • CMS21
    • congenital myasthenic syndrome 21, presynaptic
Rattus norvegicus (Norway rat)
DOID:0110590
  • autosomal dominant nonsyndromic deafness 69
  • Aliases:
    • DCUA
    • DFNA69
    • autosomal dominant deafness 69
    • unilateral or asymmetric congenital deafness
Rattus norvegicus (Norway rat)
DOID:0111373
  • familial progressive hyperpigmentation with or without hypopigmentation
  • Aliases:
    • FPHH
    • MUH
    • melanosis universalis hereditaria
Rattus norvegicus (Norway rat)
DOID:0060686
  • autosomal dominant nocturnal frontal lobe epilepsy 5
  • Aliases:
    • ENFL5
    • nocturnal frontal lobe epilepsy 5
Rattus norvegicus (Norway rat)
DOID:0080439
  • developmental and epileptic encephalopathy 14
  • Aliases:
    • DEE14
    • early infantile epileptic encephalopathy 14
Rattus norvegicus (Norway rat)
DOID:4890
  • juvenile myoclonic epilepsy
Homo sapiens (human)
DOID:0111813
  • syndactyly type 8
  • Aliases:
    • fusion of metacarpals 4 and 5
    • metacarpal 4-5 fusion
Rattus norvegicus (Norway rat)
DOID:0111954
  • immunodeficiency 60
  • Aliases:
    • BACH2-related immunodeficiency and autoimmunity
    • BRIDA
    • IMD60
Homo sapiens (human)
DOID:1932
  • Angelman syndrome
  • Aliases:
    • happy puppet syndrome
    • puppetlike syndrome
Homo sapiens (human)
DOID:0050985
  • spinocerebellar ataxia type 38
Homo sapiens (human)
DOID:0110661
  • congenital myasthenic syndrome 20
  • Aliases:
    • CMS20
    • congenital myasthenic syndrome 20 presynaptic
Homo sapiens (human)
DOID:0111199
  • autosomal dominant distal hereditary motor neuronopathy 7
  • Aliases:
    • DHMN7A
    • DHMNVPy
    • HMN VIIA
    • HMN7A
    • Harper-Young myopath
    • dHMN7
    • distal hereditary motor neuronopathy type 7
    • distal hereditary motor neuropathy type VIIA
    • distal spinal muscular atrophy with vocal cord paralysis
    • distal spinal muscular atrophy with vocal cord paralysis type 7A
Homo sapiens (human)
DOID:0050816
  • urofacial syndrome
  • Aliases:
    • Ochoa syndrome
    • hydronephrosis with peculiar facial expression
Homo sapiens (human)
DOID:0111982
  • immunodeficiency 56
  • Aliases:
    • IL21R immunodeficiency
    • IMD56
    • combined immunodeficiency due to IL21R deficiency
Mus musculus (house mouse)
DOID:0081153
  • common variable immunodeficiency 11
Mus musculus (house mouse)
DOID:0110870
  • congenital stationary night blindness 1A
  • Aliases:
    • CSNB1A
    • NBMI
    • complete CSNB X-linked
    • congenital stationary night blindness 1A X-linked
    • congenital stationary night blindness with myopia
    • hemeralopia-myopia
    • myopia-night blindness
Homo sapiens (human)
DOID:0110361
  • retinitis pigmentosa 75
  • Aliases:
    • RP75
Homo sapiens (human)
DOID:0111753
  • infantile hypertrophic cardiomyopathy
Homo sapiens (human)
DOID:0111496
  • combined oxidative phosphorylation deficiency 17
  • Aliases:
    • COXPD17
Homo sapiens (human)
DOID:0060285
  • parietal foramina
  • Aliases:
    • Caitlin marks
    • enlarged parietal foramina
    • hereditary cranium bifidum
Homo sapiens (human)
DOID:0081046
  • frontonasal dysplasia 2
Homo sapiens (human)
DOID:8469
  • influenza
  • Aliases:
    • Influenza with other manifestations
    • flu
    • influenza with non-respiratory manifestation
Mus musculus (house mouse)
DOID:0050854
  • Muckle-Wells syndrome
  • Aliases:
    • MWS
    • neutrophilic urticaria
Rattus norvegicus (Norway rat)
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