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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 11451 - 11475 of 15957 in total
Disease ID Disease Name Gene Symbol ▼ Gene ID Organism Source
DOID:0110680
  • congenital myasthenic syndrome 2C
  • Aliases:
    • CMS2C
    • congenital myasthenic syndrome 2C associated with acetylcholine receptor deficiency
Mus musculus (house mouse)
DOID:0110681
  • congenital myasthenic syndrome 2A
  • Aliases:
    • CMS2A
    • congenital myasthenic syndrome 2A slow-channel
Mus musculus (house mouse)
DOID:7474
  • malignant pleural mesothelioma
  • Aliases:
    • malignant mesothelioma of pleura
Rattus norvegicus (Norway rat)
DOID:4556
  • lung large cell carcinoma
  • Aliases:
    • large cell carcinoma of lung
    • large cell lung carcinoma
Mus musculus (house mouse)
DOID:0060682
  • autosomal dominant nocturnal frontal lobe epilepsy 1
  • Aliases:
    • ENFL1
    • nocturnal frontal lobe epilepsy 1
Rattus norvegicus (Norway rat)
DOID:12217
  • Lewy body dementia
  • Aliases:
    • Dementia with Lewy bodies
    • Diffuse Lewy body disease
    • Lewy body disease
    • Senile dementia of the Lewy body type
Rattus norvegicus (Norway rat)
DOID:0060682
  • autosomal dominant nocturnal frontal lobe epilepsy 1
  • Aliases:
    • ENFL1
    • nocturnal frontal lobe epilepsy 1
Mus musculus (house mouse)
DOID:0081119
  • benign familial infantile seizures 6
  • Aliases:
    • Autosomal dominant nocturnal frontal lobe epilepsy
    • Benign Familial Infantile Seizures, 6
    • nocturnal frontal lobe epilepsy-4
Rattus norvegicus (Norway rat)
DOID:0060685
  • autosomal dominant nocturnal frontal lobe epilepsy 4
  • Aliases:
    • ENFL4
    • nocturnal frontal lobe epilepsy 4
Rattus norvegicus (Norway rat)
DOID:0081119
  • benign familial infantile seizures 6
  • Aliases:
    • Autosomal dominant nocturnal frontal lobe epilepsy
    • Benign Familial Infantile Seizures, 6
    • nocturnal frontal lobe epilepsy-4
Mus musculus (house mouse)
DOID:0060685
  • autosomal dominant nocturnal frontal lobe epilepsy 4
  • Aliases:
    • ENFL4
    • nocturnal frontal lobe epilepsy 4
Mus musculus (house mouse)
DOID:0110662
  • congenital myasthenic syndrome 1B
  • Aliases:
    • CMS1B
    • congenital myasthenic syndrome 1B, fast-channel
Rattus norvegicus (Norway rat)
DOID:0110663
  • congenital myasthenic syndrome 1A
  • Aliases:
    • CMS IIa
    • CMS1A
    • congenital myasthenic syndrome 1A, slow-channel
    • congenital myasthenic syndrome type IIa
Rattus norvegicus (Norway rat)
DOID:3635
  • congenital myasthenic syndrome
Rattus norvegicus (Norway rat)
DOID:0110662
  • congenital myasthenic syndrome 1B
  • Aliases:
    • CMS1B
    • congenital myasthenic syndrome 1B, fast-channel
Mus musculus (house mouse)
DOID:3635
  • congenital myasthenic syndrome
Mus musculus (house mouse)
DOID:0060889
  • prune belly syndrome
  • Aliases:
    • Eagle-Barret syndrome
    • Obrisnksy syndrome
    • abdominal muscle deficiency syndrome
Rattus norvegicus (Norway rat)
DOID:0060610
  • megacystis-microcolon-intestinal hypoperistalsis syndrome
  • Aliases:
    • Berdon syndrome
    • Megacystis microcolon intestinal hypoperistalsis syndrome
    • megacystis-microcolon-intestinal hypoperistalsis syndrome, MMIH
    • visceral myopathy
Rattus norvegicus (Norway rat)
DOID:365
  • bladder disease
  • Aliases:
    • Urinary Bladder Disease
Rattus norvegicus (Norway rat)
DOID:0060889
  • prune belly syndrome
  • Aliases:
    • Eagle-Barret syndrome
    • Obrisnksy syndrome
    • abdominal muscle deficiency syndrome
Mus musculus (house mouse)
DOID:365
  • bladder disease
  • Aliases:
    • Urinary Bladder Disease
Mus musculus (house mouse)
DOID:0060610
  • megacystis-microcolon-intestinal hypoperistalsis syndrome
  • Aliases:
    • Berdon syndrome
    • Megacystis microcolon intestinal hypoperistalsis syndrome
    • megacystis-microcolon-intestinal hypoperistalsis syndrome, MMIH
    • visceral myopathy
Mus musculus (house mouse)
DOID:12583
  • velocardiofacial syndrome
  • Aliases:
    • Shprintzen syndrome
    • VCF-Velocardiofacial syndrome
Mus musculus (house mouse)
DOID:11198
  • DiGeorge syndrome
  • Aliases:
    • 22q11.2 deletion syndrome
    • DiGeorge sequence
    • DiGeorge's syndrome
    • Pharyngeal pouch syndrome
Mus musculus (house mouse)
DOID:0060246
  • MASA syndrome
  • Aliases:
    • CRASH syndrome
    • Gareis-Mason syndrome
    • L1 syndrome
    • SPG1
    • X-linked complicated hereditary spastic paraplegia type 1
    • X-linked corpus callosum agenesis
    • X-linked spastic paraplegia 1
    • hereditary spastic paraplegia 1
Mus musculus (house mouse)
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Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024