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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 2351 - 2375 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism Source
DOID:0081355
  • congenital myopathy 22B
Homo sapiens (human)
DOID:0081424
  • familial focal epilepsy with variable foci 4
Homo sapiens (human)
DOID:0080420
  • developmental and epileptic encephalopathy 62
  • Aliases:
    • DEE62
    • early infantile epileptic encephalopathy 62
Homo sapiens (human)
DOID:0081116
  • benign familial infantile seizures 3
  • Aliases:
    • Benign Familial Infantile Seizures, 3
    • benign familial neonatal-infantile seizures
Homo sapiens (human)
DOID:0080421
  • developmental and epileptic encephalopathy 11
  • Aliases:
    • DEE11
    • early infantile epileptic encephalopathy 11
Homo sapiens (human)
DOID:0111302
  • generalized epilepsy with febrile seizures plus 1
  • Aliases:
    • GEFS+1
    • GEFSP1
    • generalised epilepsy with febrile seizures plus 1
    • generalised epilepsy with febrile seizures plus type 1
    • generalized epilepsy with febrile seizures plus type 1
Homo sapiens (human)
DOID:0110222
  • Brugada syndrome 5
  • Aliases:
    • BRGDA5
Homo sapiens (human)
DOID:0080455
  • developmental and epileptic encephalopathy 52
  • Aliases:
    • DEE52
    • early infantile epileptic encephalopathy 52
Homo sapiens (human)
DOID:0111183
  • familial hemiplegic migraine 3
  • Aliases:
    • FHM3
    • MHP3
Homo sapiens (human)
DOID:0070379
  • developmental and epileptic encephalopathy 6B
  • Aliases:
    • DEE6B
Homo sapiens (human)
DOID:0050954
  • spinocerebellar ataxia type 1
Homo sapiens (human)
DOID:0110264
  • cataract 33
  • Aliases:
    • CTRCT33
Homo sapiens (human)
DOID:0111841
  • Shukla-Vernon syndrome
  • Aliases:
    • SHUVER
Homo sapiens (human)
DOID:2810
  • middle lobe syndrome
Homo sapiens (human)
DOID:14095
  • boutonneuse fever
  • Aliases:
    • African tick typhus
    • Rickettsia conorii spotted fever
    • South African tick-bite fever
    • kenya tick typhus
    • marseilles fever
Homo sapiens (human)
DOID:0110019
  • age related macular degeneration 7
  • Aliases:
    • ARMD7
Homo sapiens (human)
DOID:0110026
  • age related macular degeneration 14
  • Aliases:
    • ARMD14
Homo sapiens (human)
DOID:0110530
  • autosomal recessive nonsyndromic deafness 84B
  • Aliases:
    • DFNB84B
    • autosomal recessive deafness 84B
Mus musculus (house mouse)
DOID:0060731
  • congenital central hypoventilation syndrome
  • Aliases:
    • CCHS
    • Ondine curse
    • Ondine syndrome
    • central congenital hypoventilation syndrome
    • congenital central alveolar hypoventilation syndrome
Homo sapiens (human)
DOID:0081352
  • congenital myopathy 20
Homo sapiens (human)
DOID:0060675
  • catecholaminergic polymorphic ventricular tachycardia 1
  • Aliases:
    • CVPT1
    • arrhythmogenic right ventricular dysplasia 2
Homo sapiens (human)
DOID:0080990
  • King Denborough syndrome
Homo sapiens (human)
DOID:0080991
  • congenital myopathy 1B
  • Aliases:
    • multiminicore disease
Homo sapiens (human)
DOID:3529
  • congenital myopathy 1A
  • Aliases:
    • central core disease
    • central core myopathy
Homo sapiens (human)
DOID:8545
  • malignant hyperthermia
  • Aliases:
    • anesthesia related hyperthermia
    • malignant hyperpyrexia due to anesthesia
Homo sapiens (human)
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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