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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 9851 - 9875 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism Source
DOID:9408
  • acute myocardial infarction
Homo sapiens (human)
DOID:0080555
  • congenital disorder of glycosylation Ic
  • Aliases:
    • congenital disorder of glycosylation 1c
Caenorhabditis elegans
DOID:0111667
  • enterokinase deficiency
  • Aliases:
    • congenital enterokinase deficiency
    • congenital enteropathy due to enteropeptidase deficiency
    • deficiency of enteropeptidase
Caenorhabditis elegans
DOID:0112184
  • thyroid dyshormonogenesis 5
  • Aliases:
    • TDH5
    • genetic defect in thyroid hormonogenesis 5
Caenorhabditis elegans
DOID:4751
  • striatonigral degeneration
Mus musculus (house mouse)
DOID:0050663
  • Bethlem myopathy
  • Aliases:
    • benign congenital muscular dystrophy
Caenorhabditis elegans
DOID:0050557
  • congenital muscular dystrophy
Caenorhabditis elegans
DOID:0050558
  • Ullrich congenital muscular dystrophy
  • Aliases:
    • ULLRICH DISEASE
    • Ullrich scleroatonic muscular dystrophy
Caenorhabditis elegans
DOID:2033
  • communication disorder
Caenorhabditis elegans
DOID:0090050
  • dystonia 27
Caenorhabditis elegans
DOID:0060162
  • dentatorubral-pallidoluysian atrophy
  • Aliases:
    • DRPLA
    • Haw River Syndrome
    • Naito-Oyanagi disease
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
Mus musculus (house mouse)
DOID:5627
  • adenosquamous gallbladder carcinoma
  • Aliases:
    • Adenosquamous carcinoma of the gallbladder
Mus musculus (house mouse)
DOID:0080285
  • developmental and epileptic encephalopathy 58
  • Aliases:
    • DEE58
    • early infantile epileptic encephalopathy 58
Mus musculus (house mouse)
DOID:0070146
  • hereditary sensory neuropathy type 4
  • Aliases:
    • hereditary sensory neuropathy type IV
    • insensitivity to pain, congenital, with anhidrosis
Mus musculus (house mouse)
DOID:0080411
  • familial adenomatous polyposis 3
Mus musculus (house mouse)
DOID:0110106
  • atrial heart septal defect 1
  • Aliases:
    • ASD1
    • atrial septal defect 1
Mus musculus (house mouse)
DOID:9245
  • Alagille syndrome
  • Aliases:
    • Alagille-Watson syndrome
    • Arteriohepatic dysplasia
Homo sapiens (human)
DOID:0111377
  • fetal akinesia deformation sequence syndrome 1
  • Aliases:
    • FADS1
Mus musculus (house mouse)
DOID:0110670
  • congenital myasthenic syndrome 9
  • Aliases:
    • CMS9
    • congenital myasthenic syndrome 9, associated with acetylcholine receptor deficiency
Mus musculus (house mouse)
DOID:0070377
  • developmental and epileptic encephalopathy 96
  • Aliases:
    • DEE96
Mus musculus (house mouse)
DOID:0111332
  • Pitt-Hopkins-like syndrome 2
  • Aliases:
    • PTHSL2
Mus musculus (house mouse)
DOID:11759
  • hypochromic anemia
  • Aliases:
    • ANEMIA HYPOCHROMIC
Mus musculus (house mouse)
DOID:0050456
  • Buruli ulcer disease
  • Aliases:
    • Bairnsdale ulcer
    • Daintree ulcer
    • Mossman ulcer
    • Searl ulcer
    • Searle's ulcer
Mus musculus (house mouse)
DOID:12704
  • ataxia telangiectasia
  • Aliases:
    • Boder-Sedgwick syndrome
    • Louis Bar syndrome
Caenorhabditis elegans
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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

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Last updated: December 9, 2024