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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:0111110
  • maturity-onset diabetes of the young type 13
  • Aliases:
    • MODY type 13
    • MODY13
Mus musculus (house mouse)
DOID:0110143
  • Bartter disease type 2
  • Aliases:
    • BARTS2
    • Bartter syndrome type 2
    • Bartter syndrome type 2 antenatal
    • hyperprostaglandin E syndrome 2
    • hypokalemic alkalosis with hypercalciuria 2 antenatal
Mus musculus (house mouse)
DOID:0050793
  • short QT syndrome
Mus musculus (house mouse)
DOID:0050793
  • short QT syndrome
Rattus norvegicus (Norway rat)
DOID:0110223
  • Brugada syndrome 6
  • Aliases:
    • BRGDA6
Rattus norvegicus (Norway rat)
DOID:0110223
  • Brugada syndrome 6
  • Aliases:
    • BRGDA6
Mus musculus (house mouse)
DOID:0110648
  • long QT syndrome 6
  • Aliases:
    • LQT6
Mus musculus (house mouse)
DOID:0110648
  • long QT syndrome 6
  • Aliases:
    • LQT6
Rattus norvegicus (Norway rat)
DOID:0110647
  • long QT syndrome 5
  • Aliases:
    • LQT5
Rattus norvegicus (Norway rat)
DOID:2842
  • Jervell-Lange Nielsen syndrome
  • Aliases:
    • Jervell and Lange-Nielson syndrome
Rattus norvegicus (Norway rat)
DOID:2843
  • long QT syndrome
  • Aliases:
    • LQT
    • long Q-T syndrome
Rattus norvegicus (Norway rat)
DOID:0110647
  • long QT syndrome 5
  • Aliases:
    • LQT5
Mus musculus (house mouse)
DOID:2842
  • Jervell-Lange Nielsen syndrome
  • Aliases:
    • Jervell and Lange-Nielson syndrome
Mus musculus (house mouse)
DOID:0050963
  • spinocerebellar ataxia type 13
Mus musculus (house mouse)
DOID:0070389
  • developmental and epileptic encephalopathy 103
  • Aliases:
    • DEE103
    • early infantile epileptic encephalopathy 103
Mus musculus (house mouse)
DOID:0070389
  • developmental and epileptic encephalopathy 103
  • Aliases:
    • DEE103
    • early infantile epileptic encephalopathy 103
Rattus norvegicus (Norway rat)
DOID:0111447
  • progressive myoclonus epilepsy 7
  • Aliases:
    • EPM7
    • MEAK
    • Myoclonus epilepsy and ataxia due to potassium channel mutation
    • PME type 7
    • Progressive myoclonic epilepsy due to KV3.1 deficiency
    • Progressive myoclonus epilepsy type 7
Rattus norvegicus (Norway rat)
DOID:0111447
  • progressive myoclonus epilepsy 7
  • Aliases:
    • EPM7
    • MEAK
    • Myoclonus epilepsy and ataxia due to potassium channel mutation
    • PME type 7
    • Progressive myoclonic epilepsy due to KV3.1 deficiency
    • Progressive myoclonus epilepsy type 7
Mus musculus (house mouse)
DOID:0080461
  • developmental and epileptic encephalopathy 26
  • Aliases:
    • DEE26
    • early infantile epileptic encephalopathy 26
Mus musculus (house mouse)
DOID:0080416
  • developmental and epileptic encephalopathy 32
  • Aliases:
    • DEE32
    • early infantile epileptic encephalopathy 32
Rattus norvegicus (Norway rat)
DOID:0080416
  • developmental and epileptic encephalopathy 32
  • Aliases:
    • DEE32
    • early infantile epileptic encephalopathy 32
Mus musculus (house mouse)
DOID:0050989
  • episodic ataxia type 1
Rattus norvegicus (Norway rat)
DOID:0050989
  • episodic ataxia type 1
Mus musculus (house mouse)
DOID:0060290
  • Ohdo syndrome, SBBYS variant
  • Aliases:
    • Say-Barber-Biesecker-Young-Simpson syndrome
    • blepharophimosis-intellectual disability syndrome, SBBYS type
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)
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Last updated: December 9, 2024