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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 14351 - 14375 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism Source
DOID:0111671
  • primary hyperoxaluria type 2
  • Aliases:
    • D-glycerate dehydrogenase deficiency
    • HP2
    • L-glyceric aciduria
    • glyoxylate reductase/hydroxypyruvate reductase deficiency
    • oxalosis II
Mus musculus (house mouse)
DOID:0070388
  • developmental and epileptic encephalopathy 102
  • Aliases:
    • DEE102
    • early infantile epileptic encephalopathy 102
Mus musculus (house mouse)
DOID:0070184
  • spermatogenic failure 16
  • Aliases:
    • SPGF16
    • acephalic spermatozoa syndrome
Mus musculus (house mouse)
DOID:0111371
  • isolated hyperchlorhidrosis
  • Aliases:
    • HYCHL
    • carbonic anhydrase XII deficiency
Mus musculus (house mouse)
DOID:0070277
  • primary autosomal recessive microcephaly 15
  • Aliases:
    • MCPH15
    • NEDMISBA
    • neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities
Mus musculus (house mouse)
DOID:0050880
  • Koolen de Vries syndrome
  • Aliases:
    • 17q21.31 microdeletion syndrome
    • KANSL1-related intellectual disability syndrome
    • KdVS
    • Koolen-De Vries syndrome
Mus musculus (house mouse)
DOID:0060679
  • catecholaminergic polymorphic ventricular tachycardia 5
  • Aliases:
    • CVPT5
Mus musculus (house mouse)
DOID:0060674
  • catecholaminergic polymorphic ventricular tachycardia
Mus musculus (house mouse)
DOID:0080181
  • PHARC syndrome
  • Aliases:
    • polyneyropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
Danio rerio (zebrafish)
DOID:4051
  • alveolar rhabdomyosarcoma
  • Aliases:
    • alveolar childhood rhabdomyosarcoma
Danio rerio (zebrafish)
DOID:0060393
  • chromosome 15q11.2 deletion syndrome
  • Aliases:
    • 15q11.2 microdeletion syndrome
Mus musculus (house mouse)
DOID:0080430
  • developmental and epileptic encephalopathy 65
  • Aliases:
    • DEE65
    • early infantile epileptic encephalopathy 65
Mus musculus (house mouse)
DOID:0050587
  • trichotillomania
Mus musculus (house mouse)
DOID:0080297
  • Coffin-Siris syndrome 6
Mus musculus (house mouse)
DOID:14780
  • KBG syndrome
Mus musculus (house mouse)
DOID:0111371
  • isolated hyperchlorhidrosis
  • Aliases:
    • HYCHL
    • carbonic anhydrase XII deficiency
Homo sapiens (human)
DOID:0111181
  • familial hemiplegic migraine 1
  • Aliases:
    • FHM1
    • MHP1
    • familial hemiplegic migraine1 with progressive cerebellar ataxia
Homo sapiens (human)
DOID:0050835
  • generalized dystonia
  • Aliases:
    • familial dystonia
    • fragments of torsion dystonia
Homo sapiens (human)
DOID:0070309
  • absence epilepsy
Homo sapiens (human)
DOID:0050990
  • episodic ataxia type 2
Homo sapiens (human)
DOID:0080454
  • developmental and epileptic encephalopathy 42
  • Aliases:
    • DEE42
    • early infantile epileptic encephalopathy 42
Homo sapiens (human)
DOID:0050704
  • childhood electroclinical syndrome
Homo sapiens (human)
DOID:0050956
  • spinocerebellar ataxia type 6
Homo sapiens (human)
DOID:0060173
  • Timothy syndrome
Homo sapiens (human)
DOID:0110649
  • long QT syndrome 8
  • Aliases:
    • LQT8
Homo sapiens (human)
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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 9, 2024