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 2076 - 2100 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism Source
DOID:0111630
  • familial erythrocytosis 8
  • Aliases:
    • BPGM deficiency
    • DPGM deficiency
    • ECYT8
    • bisphosphoglycerate mutase deficiency
    • bisphosphoglyceromutase deficiency
    • diphosphoglycerate mutase deficiency of erythrocyte
    • hemolytic anemia due to diphosphoglycerate mutase deficiency
Homo sapiens (human)
DOID:0110816
  • hereditary spastic paraplegia 7
  • Aliases:
    • SPG7
    • autosomal recessive spastic paraplegia 7
    • spastic paraplegia type 7
Homo sapiens (human)
DOID:0080061
  • autosomal recessive spinocerebellar ataxia 2
  • Aliases:
    • SCAR2
Mus musculus (house mouse)
DOID:0081430
  • intellectual developmental disorder with autistic features and language delay, with or without seizures
  • Aliases:
    • IDDALDS
Mus musculus (house mouse)
DOID:0060358
  • multiple acyl-CoA dehydrogenase deficiency
  • Aliases:
    • MAD deficiency
    • MADD
    • electron transfer flavoprotein deficiency
    • electron transfer flavoprotein ubiquinone oxidoreductase deficiency
    • glutaric acidemia type 2
    • glutaric aciduria type 2
Mus musculus (house mouse)
DOID:0110792
  • hereditary spastic paraplegia 4
  • Aliases:
    • SPG4
    • autosomal dominant spastic paraplegia 4
    • autosomal dominant spastic paraplegia type 4
Homo sapiens (human)
DOID:0112184
  • thyroid dyshormonogenesis 5
  • Aliases:
    • TDH5
    • genetic defect in thyroid hormonogenesis 5
Mus musculus (house mouse)
DOID:14778
  • blepharophimosis, ptosis, and epicanthus inversus syndrome
Homo sapiens (human)
DOID:0080860
  • primary ovarian insufficiency 3
Homo sapiens (human)
DOID:11257
  • social phobia
Mus musculus (house mouse)
DOID:4189
  • mutism
Mus musculus (house mouse)
DOID:0090130
  • cortical dysplasia-focal epilepsy syndrome
  • Aliases:
    • CDFE syndrome
    • CDFES
    • PTHSL1
    • Pitt-Hopkins-like syndrome-1
Mus musculus (house mouse)
DOID:4186
  • articulation disorder
  • Aliases:
    • Articulation impairment
    • Phonological disorder
Mus musculus (house mouse)
DOID:0060244
  • specific language impairment
Mus musculus (house mouse)
DOID:13365
  • reading disorder
Mus musculus (house mouse)
DOID:0110658
  • congenital myasthenic syndrome 15
  • Aliases:
    • CMS15
    • congenital myasthenic syndrome 15 without tubular aggregates
Mus musculus (house mouse)
DOID:0110338
  • osteogenesis imperfecta type 17
  • Aliases:
    • OI17
    • osteogenesis imperfecta type XVII
Homo sapiens (human)
DOID:0111608
  • distal arthrogryposis type 5
  • Aliases:
    • DA5
    • DAIIB
    • arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome
    • distal arthrogryposis type IIB
    • distal arthrogryposis with ophthalmoplegia
    • oculomelic amyoplasia
Mus musculus (house mouse)
DOID:0111607
  • distal arthrogryposis type 3
  • Aliases:
    • DA3
    • Gordon syndrome
    • camptodactyly-cleft palate-clubfoot syndrome
    • distal arthrogryposis multiplex congenita type IIA
Mus musculus (house mouse)
DOID:0070397
  • hypomyelinating leukodystrophy 23
  • Aliases:
    • HLD23
Mus musculus (house mouse)
DOID:0110607
  • primary ciliary dyskinesia 28
  • Aliases:
    • CILD28
    • primary ciliary dyskinesia 28 with or without situs inversus
Homo sapiens (human)
DOID:0070151
  • hereditary sensory and autonomic neuropathy type 6
  • Aliases:
    • HSAN6
    • hereditary sensory and autonomic neuropathy type VI
Homo sapiens (human)
DOID:0050463
  • campomelic dysplasia
  • Aliases:
    • Acampomelic Campomelic Dysplasia
Homo sapiens (human)
DOID:0111801
  • syndromic microphthalmia 3
  • Aliases:
    • AEG syndrome
    • MCOPS3
    • SOX2 anophthalmia syndrome
    • anophthalmia clinical with associated anomalies
    • anophthalmia esophageal genital syndrome
    • anophthalmia microphthalmia esophageal atresia
    • anophthalmia/microphthalmia-esophageal atresia syndrome
    • microphthalmia and esophageal atresia syndrome
    • syndromic microphthalmia type 3
Homo sapiens (human)
DOID:10811
  • nasal cavity cancer
  • Aliases:
    • malignant neoplasm of nasal cavities
    • malignant tumor of the nasal cavity
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