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 5051 - 5075 of 15957 in total
Disease ID Disease Name Gene Symbol ▲ Gene ID Organism Source
DOID:12177
  • common variable immunodeficiency
  • Aliases:
    • CVID
    • acquired agammaglobulinemia
    • acquired hypogammaglobulinemia
    • common variable agammaglobulinemia
    • sporadic hypogammaglobulinemia
Homo sapiens (human)
DOID:0090012
  • severe combined immunodeficiency with sensitivity to ionizing radiation
  • Aliases:
    • SCID due to DCLRE1C deficiency
    • SCID due to artemis deficiency
    • SCID, Athabascan type
    • SCID, Athabaskan type
    • Severe combined immunodeficiency due to DCLRE1C deficiency
    • Severe combined immunodeficiency due to artemis deficiency
    • Severe combined immunodeficiency, Athabascan type
    • Severe combined immunodeficiency, Athabaskan type
    • artemis deficiency
Homo sapiens (human)
DOID:0060010
  • Omenn syndrome
  • Aliases:
    • combined immunodeficiency with hypereosinophilia
Homo sapiens (human)
DOID:0060445
  • congenital stromal corneal dystrophy
  • Aliases:
    • CSCD
    • congenital hereditary stromal dystrophy
Homo sapiens (human)
DOID:0050632
  • oculocutaneous albinism
Homo sapiens (human)
DOID:0050890
  • synucleinopathy
  • Aliases:
    • Synucleinopathies
    • alpha Synucleinopathies
Homo sapiens (human)
DOID:231
  • motor neuron disease
Homo sapiens (human)
DOID:0060193
  • amyotrophic lateral sclerosis type 1
  • Aliases:
    • ALS1
    • amyotrophic lateral sclerosis 1
Homo sapiens (human)
DOID:0111202
  • autosomal dominant distal hereditary motor neuronopathy 14
  • Aliases:
    • DHMN7B
    • HMN VIIB
    • HMN7B
    • Harper-Young myopathy
    • distal hereditary motor neuronopathy type 7B
    • distal hereditary motor neuropathy type VIIB
    • distal spinal muscular atrophy with vocal cord paralysis type 7B
Homo sapiens (human)
DOID:0060486
  • Perry syndrome
  • Aliases:
    • parkinsonism with alveolar hypoventilation and mental depression
Homo sapiens (human)
DOID:0111258
  • pentosuria
  • Aliases:
    • L-xylulose reductase deficiency
    • L-xylulosuria
    • PNTSU
    • essential pentosuria
    • xylitol dehydrogenase deficiency
Homo sapiens (human)
DOID:0050427
  • xeroderma pigmentosum
Homo sapiens (human)
DOID:0110806
  • hereditary spastic paraplegia 54
  • Aliases:
    • SPG54
    • autosomal recessive spastic paraplegia 54
    • autosomal recessive spastic paraplegia type 54
Homo sapiens (human)
DOID:0110779
  • hereditary spastic paraplegia 28
  • Aliases:
    • SPG28
    • autosomal recessive spastic paraplegia 28
    • autosomal recessive spastic paraplegia type 28
Homo sapiens (human)
DOID:0080569
  • congenital disorder of glycosylation Ir
  • Aliases:
    • congenital disorder of glycosylation 1r
Homo sapiens (human)
DOID:0112196
  • spondylometaepiphyseal dysplasia, short limb-hand type
  • Aliases:
    • SMED short limb-abnormal calcification type
    • SMED short limb-hand type
    • SMED type 2
    • SMED, type II
    • SMED-SL
    • SMED-SL/AC
    • spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
    • spondylometaepiphyseal dysplasia short limb-hand type
Homo sapiens (human)
DOID:5627
  • adenosquamous gallbladder carcinoma
  • Aliases:
    • Adenosquamous carcinoma of the gallbladder
Homo sapiens (human)
DOID:0060611
  • abdominal obesity-metabolic syndrome
Homo sapiens (human)
DOID:3869
  • childhood medulloblastoma
  • Aliases:
    • pediatric Medulloblastoma
Homo sapiens (human)
DOID:0050457
  • Sertoli cell-only syndrome
  • Aliases:
    • DEL CASTILLO SYNDROME
    • Germinal Cell Aplasia
Homo sapiens (human)
DOID:0070054
  • Vulto-van Silfout-de Vries syndrome
  • Aliases:
    • IDDISBAS
    • MRD24
    • VSVS
    • autosomal dominant mental retardation 24
    • autosomal dominant non-syndromic intellectual disability 24
    • intellectual developmental disorder with impaired expressive speech and behavioral abnormalities, with or without seizures
Homo sapiens (human)
DOID:0060786
  • hypomyelinating leukodystrophy
  • Aliases:
    • HLD
Homo sapiens (human)
DOID:0070399
  • hypomyelinating leukodystrophy 18
  • Aliases:
    • HLD18
Homo sapiens (human)
DOID:0080441
  • developmental and epileptic encephalopathy 49
  • Aliases:
    • DEE49
    • early infantile epileptic encephalopathy 49
Homo sapiens (human)
DOID:0112202
  • developmental and epileptic encephalopathy
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