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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 1576 - 1600 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism Source
DOID:0080597
  • Kleefstra syndrome
Mus musculus (house mouse)
DOID:0060352
  • Kleefstra syndrome 1
  • Aliases:
    • 9q subtelomeric deletion syndrome
    • 9q-syndrome
    • 9q34 deletion syndrome
Mus musculus (house mouse)
DOID:0081169
  • Leber congenital amaurosis 19
Mus musculus (house mouse)
DOID:0081219
  • autosomal recessive intellectual developmental disorder 57
Mus musculus (house mouse)
DOID:0060411
  • chromosome 1q21.1 deletion syndrome
  • Aliases:
    • 1q21.1 microdeletion syndrome
Mus musculus (house mouse)
DOID:0110220
  • Brugada syndrome 3
  • Aliases:
    • BRGDA3
Homo sapiens (human)
DOID:0070536
  • neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
  • Aliases:
    • NEDHLSS
Homo sapiens (human)
DOID:0110649
  • long QT syndrome 8
  • Aliases:
    • LQT8
Homo sapiens (human)
DOID:0060173
  • Timothy syndrome
Homo sapiens (human)
DOID:0080454
  • developmental and epileptic encephalopathy 42
  • Aliases:
    • DEE42
    • early infantile epileptic encephalopathy 42
Homo sapiens (human)
DOID:0050990
  • episodic ataxia type 2
Homo sapiens (human)
DOID:0050956
  • spinocerebellar ataxia type 6
Homo sapiens (human)
DOID:0050704
  • childhood electroclinical syndrome
Homo sapiens (human)
DOID:0070309
  • absence epilepsy
Homo sapiens (human)
DOID:0050835
  • generalized dystonia
  • Aliases:
    • familial dystonia
    • fragments of torsion dystonia
Homo sapiens (human)
DOID:0111181
  • familial hemiplegic migraine 1
  • Aliases:
    • FHM1
    • MHP1
    • familial hemiplegic migraine1 with progressive cerebellar ataxia
Homo sapiens (human)
DOID:0111371
  • isolated hyperchlorhidrosis
  • Aliases:
    • HYCHL
    • carbonic anhydrase XII deficiency
Homo sapiens (human)
DOID:14780
  • KBG syndrome
Mus musculus (house mouse)
DOID:0080297
  • Coffin-Siris syndrome 6
Mus musculus (house mouse)
DOID:0050587
  • trichotillomania
Mus musculus (house mouse)
DOID:0080430
  • developmental and epileptic encephalopathy 65
  • Aliases:
    • DEE65
    • early infantile epileptic encephalopathy 65
Mus musculus (house mouse)
DOID:0060393
  • chromosome 15q11.2 deletion syndrome
  • Aliases:
    • 15q11.2 microdeletion syndrome
Mus musculus (house mouse)
DOID:4051
  • alveolar rhabdomyosarcoma
  • Aliases:
    • alveolar childhood rhabdomyosarcoma
Danio rerio (zebrafish)
DOID:0080181
  • PHARC syndrome
  • Aliases:
    • polyneyropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
Danio rerio (zebrafish)
DOID:0060679
  • catecholaminergic polymorphic ventricular tachycardia 5
  • Aliases:
    • CVPT5
Mus musculus (house mouse)
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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