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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 January 28, 2025
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 726 - 750 of 5716 in total
Disease ID ▲ Disease Name Gene Symbol Gene ID Organism Source
DOID:0060675
  • catecholaminergic polymorphic ventricular tachycardia 1
  • Aliases:
    • CVPT1
    • arrhythmogenic right ventricular dysplasia 2
Mus musculus (house mouse)
DOID:0060675
  • catecholaminergic polymorphic ventricular tachycardia 1
  • Aliases:
    • CVPT1
    • arrhythmogenic right ventricular dysplasia 2
Homo sapiens (human)
DOID:0060676
  • catecholaminergic polymorphic ventricular tachycardia 2
  • Aliases:
    • CVPT2
Mus musculus (house mouse)
DOID:0060676
  • catecholaminergic polymorphic ventricular tachycardia 2
  • Aliases:
    • CVPT2
Homo sapiens (human)
DOID:0060679
  • catecholaminergic polymorphic ventricular tachycardia 5
  • Aliases:
    • CVPT5
Homo sapiens (human)
DOID:0060680
  • pigment dispersion syndrome
  • Aliases:
    • glaucoma-related pigment dispersion syndrome
    • pigment-dispersion type glaucoma
Mus musculus (house mouse)
DOID:0060681
  • autosomal dominant nocturnal frontal lobe epilepsy
  • Aliases:
    • ENFL
Homo sapiens (human)
DOID:0060682
  • autosomal dominant nocturnal frontal lobe epilepsy 1
  • Aliases:
    • ENFL1
    • nocturnal frontal lobe epilepsy 1
Homo sapiens (human)
DOID:0060684
  • autosomal dominant nocturnal frontal lobe epilepsy 3
  • Aliases:
    • ENFL3
    • nocturnal frontal lobe epilepsy 3
Mus musculus (house mouse)
DOID:0060684
  • autosomal dominant nocturnal frontal lobe epilepsy 3
  • Aliases:
    • ENFL3
    • nocturnal frontal lobe epilepsy 3
Homo sapiens (human)
DOID:0060685
  • autosomal dominant nocturnal frontal lobe epilepsy 4
  • Aliases:
    • ENFL4
    • nocturnal frontal lobe epilepsy 4
Homo sapiens (human)
DOID:0060686
  • autosomal dominant nocturnal frontal lobe epilepsy 5
  • Aliases:
    • ENFL5
    • nocturnal frontal lobe epilepsy 5
Homo sapiens (human)
DOID:0060688
  • arteriovenous malformations of the brain
  • Aliases:
    • cerebral arteriovenous malformation
    • intracranial arteriovenous malformation
Mus musculus (house mouse)
DOID:0060688
  • arteriovenous malformations of the brain
  • Aliases:
    • cerebral arteriovenous malformation
    • intracranial arteriovenous malformation
Homo sapiens (human)
DOID:0060690
  • autosomal dominant auditory neuropathy 1
  • Aliases:
    • AUNA1
    • NSDAN
    • nonsyndromic dominant auditory neuropathy
Homo sapiens (human)
DOID:0060691
  • platelet-type bleeding disorder 16
  • Aliases:
    • autosomal dominant Glanzmann thrombasthenia
    • autosomal dominant thrombasthenia of Glanzmann and Naegeli
Mus musculus (house mouse)
DOID:0060691
  • platelet-type bleeding disorder 16
  • Aliases:
    • autosomal dominant Glanzmann thrombasthenia
    • autosomal dominant thrombasthenia of Glanzmann and Naegeli
Homo sapiens (human)
DOID:0060692
  • platelet-type bleeding disorder 8
  • Aliases:
    • ADP platelet receptor P2Y12 defect
    • P2Y12 defect
Mus musculus (house mouse)
DOID:0060692
  • platelet-type bleeding disorder 8
  • Aliases:
    • ADP platelet receptor P2Y12 defect
    • P2Y12 defect
Homo sapiens (human)
DOID:0060693
  • Brunner Syndrome
  • Aliases:
    • monoamine oxidase A deficiency
Homo sapiens (human)
DOID:0060695
  • hyperekplexia
  • Aliases:
    • Kok disease
    • congenital stiff man syndrome
    • familial startle disease
    • hereditary hyperekplexia
    • startle disease
Mus musculus (house mouse)
DOID:0060695
  • hyperekplexia
  • Aliases:
    • Kok disease
    • congenital stiff man syndrome
    • familial startle disease
    • hereditary hyperekplexia
    • startle disease
Danio rerio (zebrafish)
DOID:0060696
  • hyperekplexia 1
  • Aliases:
    • HKPX1
Mus musculus (house mouse)
DOID:0060696
  • hyperekplexia 1
  • Aliases:
    • HKPX1
Homo sapiens (human)
DOID:0060697
  • hyperekplexia 2
  • Aliases:
    • HKPX2
Mus musculus (house mouse)
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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 8, 2025