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 1701 - 1725 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism Source
DOID:0111651
  • ectodermal dysplasia 15
  • Aliases:
    • ECTD15
    • ectodermal dysplasia 15, hypohidrotic/hair type
Mus musculus (house mouse)
DOID:0050833
  • orotic aciduria
Homo sapiens (human)
DOID:0110088
  • asphyxiating thoracic dystrophy 4
  • Aliases:
    • ATD4
    • SRTD4
    • short-rib thoracic dysplasia 4 with or without polydactyly
Mus musculus (house mouse)
DOID:0111119
  • nephronophthisis 12
  • Aliases:
    • NPHP12
Mus musculus (house mouse)
DOID:0112218
  • developmental and epileptic encephalopathy 83
  • Aliases:
    • DEE83
    • early infantile epileptic encephalopathy 83
Homo sapiens (human)
DOID:0112219
  • developmental and epileptic encephalopathy 84
  • Aliases:
    • DEE84
    • Jamuar syndrome
    • early infantile epileptic encephalopathy 84
Homo sapiens (human)
DOID:0070265
  • congenital disorder of glycosylation type IIm
  • Aliases:
    • SLC35A2-CDG
    • congenital disorder of glycosylation type 2m
    • developmental and epileptic encephalopathy 22
    • epileptic encephalopathy, early infantile, 22
Homo sapiens (human)
DOID:0080254
  • orofaciodigital syndrome XVI
Xenopus laevis (African clawed frog)
DOID:0080253
  • Meckel syndrome 13
Xenopus laevis (African clawed frog)
DOID:0060303
  • complement component 9 deficiency
Homo sapiens (human)
DOID:0110027
  • age related macular degeneration 15
  • Aliases:
    • ARMD15
Homo sapiens (human)
DOID:0070474
  • childhood-onset neurodegeneration with brain atrophy
  • Aliases:
    • CONDBA
    • childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
Homo sapiens (human)
DOID:2355
  • anemia
  • Aliases:
    • anaemia
Xenopus laevis (African clawed frog)
DOID:0060652
  • familial erythrocytosis 1
  • Aliases:
    • ECYT1
    • autosomal dominant benign erythrocytosis
    • primary familial and congenital polycythemia
Xenopus laevis (African clawed frog)
DOID:8997
  • polycythemia vera
  • Aliases:
    • Osler-Vaquez syndrome
    • Polycythaemia rubra vera
    • Proliferative polycythaemia
    • chronic erythremia
Xenopus laevis (African clawed frog)
DOID:8432
  • polycythemia
  • Aliases:
    • Erythrocythemia
Xenopus laevis (African clawed frog)
DOID:0080403
  • orofacial cleft 10
  • Aliases:
    • nonsyndromic cleft lip with or without cleft palate 10
Homo sapiens (human)
DOID:0060302
  • type II complement component 8 deficiency
Homo sapiens (human)
DOID:0111827
  • X-linked spinal muscular atrophy 2
  • Aliases:
    • SMAX2
    • X-linked distal arthrogryposis multiplex congenita
    • X-linked spinal muscular atrophy type 2
    • infantile-onset X-linked spinal muscular atrophy
    • spinal muscular atrophy with arthrogryposis
Homo sapiens (human)
DOID:0080828
  • VEXAS syndrome
  • Aliases:
    • vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome
Homo sapiens (human)
DOID:0060301
  • type I complement component 8 deficiency
Homo sapiens (human)
DOID:0070097
  • oculocutaneous albinism type III
  • Aliases:
    • OCA3
    • Rufous Oculocutaneous Albinism
Homo sapiens (human)
DOID:0060300
  • complement component 7 deficiency
Homo sapiens (human)
DOID:0110295
  • autosomal recessive limb-girdle muscular dystrophy type 2U
  • Aliases:
    • LGMD2U
    • MDDGC7
    • autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency
    • muscular dystrophy limb-girdle type 2U
    • muscular dystrophy-dystroglycanopathy (limb-girdle) type C7
Homo sapiens (human)
DOID:0111234
  • congenital muscular dystrophy-dystroglycanopathy A7
  • Aliases:
    • MDDGA7
    • Walker-Warburg syndrome or muscle-eye-brain disease ISPD-related
    • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A7
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