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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 7751 - 7775 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▼ Source
DOID:0111948
  • immunodeficiency 46
  • Aliases:
    • CID due to TFRC deficiency
    • IMD46
    • TFRC-related combined immunodeficiency
    • combined immunodeficiency due to TFRC deficiency
Mus musculus (house mouse)
DOID:0111744
  • cerebellar ataxia type 41
  • Aliases:
    • SCA41
Mus musculus (house mouse)
DOID:0112002
  • immunodeficiency 47
  • Aliases:
    • CDG IIs
    • CDG2S
    • CDGIIs
    • IMD47
    • congenital disorder of glycosylation type IIs
    • immunodeficiency and hepatopathy with or without neurologic features
Mus musculus (house mouse)
DOID:0111406
  • Fraser syndrome 3
  • Aliases:
    • FRASRS3
Mus musculus (house mouse)
DOID:0060688
  • arteriovenous malformations of the brain
  • Aliases:
    • cerebral arteriovenous malformation
    • intracranial arteriovenous malformation
Mus musculus (house mouse)
DOID:0110463
  • autosomal recessive nonsyndromic deafness 102
  • Aliases:
    • DFNB102
    • autosomal recessive deafness 102
Mus musculus (house mouse)
DOID:0060684
  • autosomal dominant nocturnal frontal lobe epilepsy 3
  • Aliases:
    • ENFL3
    • nocturnal frontal lobe epilepsy 3
Mus musculus (house mouse)
DOID:0060366
  • Hennekam syndrome
  • Aliases:
    • Hennekam lymphangiectasia-lymphedema syndrome
    • lymphedem-lymphangiectasia-intellectual disability syndrome
Mus musculus (house mouse)
DOID:0050968
  • autosomal dominant cerebellar ataxia, deafness and narcolepsy
Mus musculus (house mouse)
DOID:0111691
  • familial adult myoclonic epilepsy 5
  • Aliases:
    • FAME5
    • FCMTE5
    • familial cortical myoclonic tremor and epilepsy 5
Mus musculus (house mouse)
DOID:11165
  • common wart
Mus musculus (house mouse)
DOID:0090134
  • complex cortical dysplasia with other brain malformations 3
  • Aliases:
    • CDCBM3
Mus musculus (house mouse)
DOID:13994
  • cleidocranial dysplasia
  • Aliases:
    • Marie-Sainton Disease
    • cleidocranial dysostosis
Mus musculus (house mouse)
DOID:0070199
  • Miyoshi muscular dystrophy 1
  • Aliases:
    • MMD1
    • Miyoshi myopathy 1
Mus musculus (house mouse)
DOID:0080489
  • GM1 gangliosidosis type 3
  • Aliases:
    • adult-onset GM1 gangliosidosis
Mus musculus (house mouse)
DOID:11823
  • hepatorenal syndrome
Mus musculus (house mouse)
DOID:0070114
  • Niemann-Pick disease type C2
  • Aliases:
    • NPC2
Mus musculus (house mouse)
DOID:12176
  • goiter
  • Aliases:
    • goitre
Mus musculus (house mouse)
DOID:0060399
  • chromosome 16p12.1 deletion syndrome
Mus musculus (house mouse)
DOID:10762
  • portal hypertension
Mus musculus (house mouse)
DOID:0081210
  • autosomal recessive intellectual developmental disorder 46
Mus musculus (house mouse)
DOID:0080766
  • erythrokeratodermia variabilis et progressiva 6
Mus musculus (house mouse)
DOID:0112216
  • developmental and epileptic encephalopathy 80
  • Aliases:
    • DEE80
    • GPIBD20
    • early infantile epileptic encephalopathy 80
    • glycosylphosphatidylinositol biosynthesis defect 20
Mus musculus (house mouse)
DOID:0050784
  • primary progressive multiple sclerosis
  • Aliases:
    • PPMS
    • Primary-progressive MS
Mus musculus (house mouse)
DOID:3121
  • gallbladder cancer
  • Aliases:
    • gallbladder Ca
    • gallbladder neoplasm
    • localized malignant gallbladder neoplasm
    • malignant neoplasm of gallbladder
    • malignant tumor of the gallbladder
    • malignant tumour of gallbladder
    • tumor of the gallbladder
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