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 12651 - 12675 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism Source
DOID:397
  • restrictive cardiomyopathy
  • Aliases:
    • Cardiomyopathy, constrictive
    • primary restrictive cardiomyopathy
Mus musculus (house mouse)
DOID:0080931
  • primary localized cutaneous amyloidosis 2
Homo sapiens (human)
DOID:10824
  • malignant hypertension
Homo sapiens (human)
DOID:341
  • peripheral vascular disease
  • Aliases:
    • arterial occlusive disease
Homo sapiens (human)
DOID:13603
  • obstructive jaundice
  • Aliases:
    • Cholestatic Jaundice
    • Cholestatic jaundice syndrome
    • Obstructive hyperbilirubinemia
Homo sapiens (human)
DOID:2018
  • hyperinsulinism
  • Aliases:
    • hyperinsulinemia
Homo sapiens (human)
DOID:14115
  • toxic shock syndrome
  • Aliases:
    • TSS
    • toxic shock
Homo sapiens (human)
DOID:3892
  • insulinoma
  • Aliases:
    • Insulin-Producing tumor of Islet cells
    • Islet cell adenoma
Homo sapiens (human)
DOID:0111571
  • Weyers acrofacial dysostosis
  • Aliases:
    • Curry-Hall syndrome
    • WAD
    • Weyers acrodental dysostosis
    • acrofacial dysostosis, Weyers type
Homo sapiens (human)
DOID:12714
  • Ellis-Van Creveld syndrome
  • Aliases:
    • Chondroectodermal dysplasia
    • mesoectodermal dysplasia
Homo sapiens (human)
DOID:0111626
  • D-glyceric aciduria
  • Aliases:
    • D-glycerate kinase deficiency
    • D-glyceric acidemia
    • D-glycericacidemia
    • deficiency of glycerate kinase
    • non ketotic hyperglycinemia syndrome
Homo sapiens (human)
DOID:0050427
  • xeroderma pigmentosum
Mus musculus (house mouse)
DOID:0060486
  • Perry syndrome
  • Aliases:
    • parkinsonism with alveolar hypoventilation and mental depression
Mus musculus (house mouse)
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
Mus musculus (house mouse)
DOID:0050890
  • synucleinopathy
  • Aliases:
    • Synucleinopathies
    • alpha Synucleinopathies
Mus musculus (house mouse)
DOID:0060193
  • amyotrophic lateral sclerosis type 1
  • Aliases:
    • ALS1
    • amyotrophic lateral sclerosis 1
Mus musculus (house mouse)
DOID:231
  • motor neuron disease
Mus musculus (house mouse)
DOID:0050632
  • oculocutaneous albinism
Mus musculus (house mouse)
DOID:0112216
  • developmental and epileptic encephalopathy 80
  • Aliases:
    • DEE80
    • GPIBD20
    • early infantile epileptic encephalopathy 80
    • glycosylphosphatidylinositol biosynthesis defect 20
Caenorhabditis elegans
DOID:10112
  • sleeping sickness
  • Aliases:
    • African sleeping sickness
    • African trypanosomiasis
Caenorhabditis elegans
DOID:0060445
  • congenital stromal corneal dystrophy
  • Aliases:
    • CSCD
    • congenital hereditary stromal dystrophy
Mus musculus (house mouse)
DOID:0111153
  • congenital mirror movement disorder
  • Aliases:
    • familial congenital controlateral synkinesia
    • familial congenital mirror movements
    • hereditary congenital controlateral synkinesia
    • hereditary congenital mirror movements
    • isolated congenital controlateral synkinesia
    • isolated congenital mirror movements
Mus musculus (house mouse)
DOID:4428
  • dyslexia
Mus musculus (house mouse)
DOID:0112180
  • urocanase deficiency
  • Aliases:
    • UROCD
    • encephalopathy due to urocanase deficiency
    • high urine urocanic acid levels
    • urocanate hydratase deficiency
    • urocanic aciduria
Homo sapiens (human)
DOID:0070489
  • classic dopamine transporter deficiency syndrome
  • Aliases:
    • PKDYS1
    • classic DTDS
    • infantile parkinsonism-dystonia 1
Mus musculus (house mouse)

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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