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
Guidelines
MIRAGE
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 January 28, 2025
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 5551 - 5575 of 5716 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism Source
DOID:0080507
  • Cornelia de Lange syndrome 3
  • Aliases:
    • CDLS3
    • Cornelia De Lange syndrome 3 with or without midline brain defects
Homo sapiens (human)
DOID:0110392
  • retinitis pigmentosa 70
  • Aliases:
    • RP70
Homo sapiens (human)
DOID:0110356
  • retinitis pigmentosa 18
  • Aliases:
    • RP18
Homo sapiens (human)
DOID:0111741
  • X-linked deafness 5
  • Aliases:
    • AUNX1
    • DFNX5
    • X-linked HSAN with deafness
    • X-linked auditory neuropathy 1 with peripheral sensory neuropathy
    • X-linked auditory neuropathy with peripheral sensory neuropathy type 1
Homo sapiens (human)
DOID:0111502
  • combined oxidative phosphorylation deficiency 6
  • Aliases:
    • COXPD6
    • Mitochondrial encephalomyopathy due to COXPD6
    • Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6
    • severe X-linked mitochondrial encephalomyopathy
Homo sapiens (human)
DOID:0110212
  • Charcot-Marie-Tooth disease X-linked recessive 4
  • Aliases:
    • CMT4X
    • CMTX4
    • Charcot-Marie-Tooth disease with deafness and mental retardation
    • Cowchock syndrome
    • NADMR
    • NAMSD
    • X-linked Charcot-Marie-Tooth disease type 4
    • axonal motor sensory neuropathy with deafness and mental retardation
Homo sapiens (human)
DOID:0080946
  • retinal dystrophy with leukodystrophy
  • Aliases:
    • ACBD5 deficiency
Homo sapiens (human)
DOID:0111972
  • immunodeficiency 19
  • Aliases:
    • CD3-delta deficiency
    • IMD19
    • SCID T cell-negative, B cell-positive, NK cell-positive
    • severe combined immunodeficiency, T cell-negative, B cell-positive, NK cell-positive
Homo sapiens (human)
DOID:0060698
  • hyperekplexia 3
  • Aliases:
    • HKPX3
Homo sapiens (human)
DOID:0110807
  • hereditary spastic paraplegia 55
  • Aliases:
    • SPG55
    • autosomal recessive spastic paraplegia 55
    • autosomal recessive spastic paraplegia type 55
Homo sapiens (human)
DOID:0111487
  • combined oxidative phosphorylation deficiency 7
  • Aliases:
    • COXPD7
    • severe C12ORF65-related COXPD
    • severe C12ORF65-related combined oxidative phosphorylation defect
Homo sapiens (human)
DOID:0110326
  • hypertrophic cardiomyopathy 20
  • Aliases:
    • CMH20
    • cardiomyopathy familial hypertrophic 20
Homo sapiens (human)
DOID:0110424
  • dilated cardiomyopathy 1CC
  • Aliases:
    • CMD1CC
Homo sapiens (human)
DOID:0050768
  • mitochondrial complex V (ATP synthase) deficiency nuclear type 1
  • Aliases:
    • MC5DN1
Homo sapiens (human)
DOID:0111973
  • immunodeficiency 17
  • Aliases:
    • CD3-gamma deficiency
    • IMD17
    • SCID-like immunodeficiency, T cell-partial, B cell-positive, NK cell-positive
    • immunodeficiency 17, CD3 gamma deficient
Homo sapiens (human)
DOID:0080930
  • primary localized cutaneous amyloidosis 1
  • Aliases:
    • familial primary localized cutaneous amyloidosis-1
Homo sapiens (human)
DOID:0080312
  • neurodevelopmental disorder with midbrain and hindbrain malformations
  • Aliases:
    • NEDMHM
Homo sapiens (human)
DOID:0080566
  • congenital disorder of glycosylation In
  • Aliases:
    • congenital disorder of glycosylation 1n
Homo sapiens (human)
DOID:0110868
  • congenital stationary night blindness 1D
  • Aliases:
    • CSNB1D
    • congenital stationary night blindness 1D autosomal recessive
Homo sapiens (human)
DOID:0112075
  • nuclear type mitochondrial complex I deficiency 10
  • Aliases:
    • MC1DN10
Homo sapiens (human)
DOID:0070257
  • congenital disorder of glycosylation type IIe
  • Aliases:
    • CDG IIe
    • CDG syndrome type IIe
    • CDG2E
    • CDGIIe
    • COG7-CDG
    • Carbohydrate deficient glycoprotein syndrome type IIe
Homo sapiens (human)
DOID:630
  • genetic disease
Homo sapiens (human)
DOID:0110794
  • hereditary spastic paraplegia 42
  • Aliases:
    • SPG42
    • autosomal dominant spastic paraplegia 42
    • autosomal dominant spastic paraplegia type 42
Homo sapiens (human)
DOID:0112277
  • immunodeficiency 79
  • Aliases:
    • IMD79
Homo sapiens (human)
DOID:0081337
  • congenital myopathy
Homo sapiens (human)
Download data in CSV format Download data in TSV format Download data in JSON format
About Release Notes Help Feedback
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 v4.4.0

Last updated: December 8, 2025