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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 13926 - 13950 of 15957 in total
Disease ID ▼ Disease Name Gene Symbol Gene ID Organism Source
DOID:0060696
  • hyperekplexia 1
  • Aliases:
    • HKPX1
Caenorhabditis elegans
DOID:0060695
  • hyperekplexia
  • Aliases:
    • Kok disease
    • congenital stiff man syndrome
    • familial startle disease
    • hereditary hyperekplexia
    • startle disease
Rattus norvegicus (Norway rat)
DOID:0060695
  • hyperekplexia
  • Aliases:
    • Kok disease
    • congenital stiff man syndrome
    • familial startle disease
    • hereditary hyperekplexia
    • startle disease
Caenorhabditis elegans
DOID:0060695
  • hyperekplexia
  • Aliases:
    • Kok disease
    • congenital stiff man syndrome
    • familial startle disease
    • hereditary hyperekplexia
    • startle disease
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:0060693
  • Brunner Syndrome
  • Aliases:
    • monoamine oxidase A deficiency
Homo sapiens (human)
DOID:0060692
  • platelet-type bleeding disorder 8
  • Aliases:
    • ADP platelet receptor P2Y12 defect
    • P2Y12 defect
Rattus norvegicus (Norway rat)
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:0060691
  • platelet-type bleeding disorder 16
  • Aliases:
    • autosomal dominant Glanzmann thrombasthenia
    • autosomal dominant thrombasthenia of Glanzmann and Naegeli
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
Caenorhabditis elegans
DOID:0060691
  • platelet-type bleeding disorder 16
  • Aliases:
    • autosomal dominant Glanzmann thrombasthenia
    • autosomal dominant thrombasthenia of Glanzmann and Naegeli
Drosophila melanogaster (fruit fly)
DOID:0060691
  • platelet-type bleeding disorder 16
  • Aliases:
    • autosomal dominant Glanzmann thrombasthenia
    • autosomal dominant thrombasthenia of Glanzmann and Naegeli
Rattus norvegicus (Norway rat)
DOID:0060690
  • autosomal dominant auditory neuropathy 1
  • Aliases:
    • AUNA1
    • NSDAN
    • nonsyndromic dominant auditory neuropathy
Homo sapiens (human)
DOID:0060690
  • autosomal dominant auditory neuropathy 1
  • Aliases:
    • AUNA1
    • NSDAN
    • nonsyndromic dominant auditory neuropathy
Saccharomyces cerevisiae S288C
DOID:0060688
  • arteriovenous malformations of the brain
  • Aliases:
    • cerebral arteriovenous malformation
    • intracranial arteriovenous malformation
Danio rerio (zebrafish)
DOID:0060688
  • arteriovenous malformations of the brain
  • Aliases:
    • cerebral arteriovenous malformation
    • intracranial arteriovenous malformation
Caenorhabditis elegans
DOID:0060688
  • arteriovenous malformations of the brain
  • Aliases:
    • cerebral arteriovenous malformation
    • intracranial arteriovenous malformation
Homo sapiens (human)
DOID:0060688
  • arteriovenous malformations of the brain
  • Aliases:
    • cerebral arteriovenous malformation
    • intracranial arteriovenous malformation
Rattus norvegicus (Norway rat)
DOID:0060688
  • arteriovenous malformations of the brain
  • Aliases:
    • cerebral arteriovenous malformation
    • intracranial arteriovenous malformation
Mus musculus (house mouse)
DOID:0060686
  • autosomal dominant nocturnal frontal lobe epilepsy 5
  • Aliases:
    • ENFL5
    • nocturnal frontal lobe epilepsy 5
Rattus norvegicus (Norway rat)
DOID:0060686
  • autosomal dominant nocturnal frontal lobe epilepsy 5
  • Aliases:
    • ENFL5
    • nocturnal frontal lobe epilepsy 5
Homo sapiens (human)
DOID:0060686
  • autosomal dominant nocturnal frontal lobe epilepsy 5
  • Aliases:
    • ENFL5
    • nocturnal frontal lobe epilepsy 5
Mus musculus (house mouse)
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Last updated: December 9, 2024