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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 9976 - 10000 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▲ Source
DOID:0080581
  • hyperekplexia 4
Mus musculus (house mouse)
DOID:5679
  • retinal disease
Mus musculus (house mouse)
DOID:530
  • eyelid disease
Mus musculus (house mouse)
DOID:0050792
  • multiple cutaneous and mucosal venous malformations
  • Aliases:
    • VMCM
    • cutaneomucosal venous malformation
    • mucocutaneous venous malformations
Mus musculus (house mouse)
DOID:2959
  • hyperimmunoglobulin syndrome
Mus musculus (house mouse)
DOID:0112000
  • immunodeficiency 34
  • Aliases:
    • AMCBX2
    • IMD34
    • X-linked MSMD due to CYBB deficiency
    • X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
    • familial atypical mycobacteriosis X-linked 2
    • immunodeficiency 34, mycobacteriosis, X-linked
Mus musculus (house mouse)
DOID:0070044
  • Coffin-Siris syndrome 2
  • Aliases:
    • CSS2
    • MRD14
    • autosomal dominant mental retardation 14
Mus musculus (house mouse)
DOID:0060764
  • autosomal recessive Robinow syndrome
  • Aliases:
    • COVESDEM syndrome
    • RRS
    • costovertebral segmentation defect-mesomelia syndrome
Mus musculus (house mouse)
DOID:0070351
  • spinal muscular atrophy with lower extremity predominant 1
  • Aliases:
    • spinal muscular atrophy with lower extremity predominance 1
Mus musculus (house mouse)
DOID:9828
  • neonatal abstinence syndrome
  • Aliases:
    • Drug withdrawal syndrome in newborn
Mus musculus (house mouse)
DOID:0110928
  • nemaline myopathy 2
  • Aliases:
    • NEM2
    • congenital myopathy 2
    • nemaline myopathy 2, autosomal recessive
Mus musculus (house mouse)
DOID:0110732
  • neuronal ceroid lipofuscinosis 11
  • Aliases:
    • CLN11
Mus musculus (house mouse)
DOID:0070217
  • familial hyperinsulinemic hypoglycemia 6
  • Aliases:
    • HHF6
    • HI/HA syndrome
    • hyperinsulinism-hyperammonemia syndrome
Mus musculus (house mouse)
DOID:0110009
  • achromatopsia 7
  • Aliases:
    • ACHM7
Mus musculus (house mouse)
DOID:0080228
  • autosomal dominant intellectual developmental disorder 53
  • Aliases:
    • autosomal dominant mental retardation 53
Mus musculus (house mouse)
DOID:0110280
  • autosomal recessive limb-girdle muscular dystrophy type 2F
  • Aliases:
    • LGMD2F
    • delta-sarcoglycanopathy
    • limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency
Mus musculus (house mouse)
DOID:0110481
  • autosomal recessive nonsyndromic deafness 23
  • Aliases:
    • DFNB23
    • autosomal recessive deafness 23
Mus musculus (house mouse)
DOID:14452
  • hypokalemic periodic paralysis
  • Aliases:
    • Hypokalemic familial periodic paralysis
    • Periodic paralysis I
    • Westphal disease
    • familial hypokalemic periodic paralysis
    • periodic hypokalemic paralysis
Mus musculus (house mouse)
DOID:0080140
  • multiple congenital anomalies-hypotonia-seizures syndrome 3
  • Aliases:
    • M syndrome
    • light fixation seizure syndrome
Mus musculus (house mouse)
DOID:2747
  • glycogen storage disease
  • Aliases:
    • glycogenosis
Mus musculus (house mouse)
DOID:0081317
  • multiple synostoses syndrome 1
Mus musculus (house mouse)
DOID:12859
  • choreatic disease
  • Aliases:
    • chorea
    • hereditary chorea
Mus musculus (house mouse)
DOID:0080909
  • castration-resistant prostate carcinoma
Mus musculus (house mouse)
DOID:9478
  • postpartum depression
  • Aliases:
    • Maternity blues
    • postnatal depression
Mus musculus (house mouse)
DOID:0060736
  • epidermolysis bullosa simplex Ogna type
  • Aliases:
    • EBS-O
    • EBS-Og
    • EBSOG
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 9, 2024