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 8001 - 8025 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▲ Source
DOID:0110637
  • muscular dystrophy-dystroglycanopathy type B6
  • Aliases:
    • MDC1D
    • MDDGB6
    • congenital muscular dystrophy LARGE-related
    • congenital muscular dystrophy type 1D
    • muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6
    • muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6
Homo sapiens (human)
DOID:0060387
  • chondrodysplasia Blomstrand type
  • Aliases:
    • Blomstrand lethal chondrodysplasia
Homo sapiens (human)
DOID:0070269
  • congenital disorder of glycosylation type IIq
  • Aliases:
    • CDG IIq
    • CDG2Q
    • CDGIIdq
    • COG2-CDG
    • COG2-related congenital disorder of glycosylation
Homo sapiens (human)
DOID:12689
  • acoustic neuroma
  • Aliases:
    • Vestibular Neurilemmoma
    • Vestibular schwannoma
Homo sapiens (human)
DOID:0111508
  • Torrance type platyspondylic dysplasia
  • Aliases:
    • PLSD-T
    • PLSDT
    • lethal short-limbed platyspondylic dwarfism, Torrance type
    • platyspondylic dysplasia, Torrance-Luton type
    • platyspondylic lethal skeletal dysplasia, Torrance type
    • thanatophoric dysplasia, Torrance variant
Homo sapiens (human)
DOID:1702
  • ichthyosis vulgaris
  • Aliases:
    • Dominant congenital ichthyosiform erythroderma
Homo sapiens (human)
DOID:0060848
  • developmental and epileptic encephalopathy 9
  • Aliases:
    • DEE9
    • EFMR
    • EIEE9
    • Juberg Hellman syndrome
    • early infantile epileptic encephalopathy 9
    • early infantile female-limited epilecptic encephalopathy
    • female restricted epilepsy with mental retardation
Homo sapiens (human)
DOID:8545
  • malignant hyperthermia
  • Aliases:
    • anesthesia related hyperthermia
    • malignant hyperpyrexia due to anesthesia
Homo sapiens (human)
DOID:1214
  • tympanosclerosis
Homo sapiens (human)
DOID:0080576
  • spondyloepimetaphyseal dysplasia, Genevieve-type
Homo sapiens (human)
DOID:0110289
  • autosomal recessive limb-girdle muscular dystrophy type 2Y
  • Aliases:
    • LGMD2Y
    • autosomal recessive muscular dystrophy due to LAP1B deficiency
    • autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency
    • muscular dystrophy with progressive weakness, distal contractures and rigid spine
    • muscular dystrophy, limb-girdle, type 2Y
Homo sapiens (human)
DOID:169
  • neuroendocrine tumor
  • Aliases:
    • neuroendocrine neoplasm
Homo sapiens (human)
DOID:0080940
  • hereditary angioedema type III
Homo sapiens (human)
DOID:0090093
  • hypogonadotropic hypogonadism 21 with or without anosmia
Homo sapiens (human)
DOID:0050794
  • multiple synostoses syndrome
Homo sapiens (human)
DOID:4079
  • heart valve disease
  • Aliases:
    • Valvular heart disease
Homo sapiens (human)
DOID:447
  • renal tubular transport disease
  • Aliases:
    • inborn renal tubular transport disorder
Homo sapiens (human)
DOID:0050998
  • nonprogressive cerebellar ataxia with mental retardation
Homo sapiens (human)
DOID:0112222
  • developmental and epileptic encephalopathy 88
  • Aliases:
    • DEE88
    • early infantile epileptic encephalopathy 88
Homo sapiens (human)
DOID:750
  • peptic ulcer disease
  • Aliases:
    • acute peptic ulcer with hemorrhage
    • acute peptic ulcer with hemorrhage and perforation
    • acute peptic ulcer without hemorrhage and without perforation
Homo sapiens (human)
DOID:0060241
  • 3-M syndrome
  • Aliases:
    • Le Merrer syndrome
    • Miller-McKusick-Malvaux syndrome
    • Yakut short stature syndrome
    • dolichospondylic dysplasia
    • gloomy face syndrome
    • three M syndrome
Homo sapiens (human)
DOID:0110765
  • hereditary spastic paraplegia 12
  • Aliases:
    • SPG12
    • autosomal dominant spastic paraplegia 12
    • autosomal dominant spastic paraplegia type 12
Homo sapiens (human)
DOID:0110065
  • amelogenesis imperfecta type 1F
  • Aliases:
    • AI1F
    • amelogenesis imperfecta hypoplastic type IF
    • amelogenesis imperfecta type IF
Homo sapiens (human)
DOID:0050683
  • Bothnia retinal dystrophy
  • Aliases:
    • Vasterbotten dystrophy
Homo sapiens (human)
DOID:0112231
  • lissencephaly 7 with cerebellar hypoplasia
  • Aliases:
    • LIS7
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