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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 8176 - 8200 of 15957 in total
Disease ID Disease Name Gene Symbol ▲ Gene ID Organism Source
DOID:0060256
  • Dowling-Degos disease
  • Aliases:
    • dark dot disease
    • reticular pigment anomaly of flexures
Homo sapiens (human)
DOID:0060735
  • epidermolysis bullosa simplex Dowling-Meara type
  • Aliases:
    • EBS-gen sev
    • EBSDM
    • epidermolysis bullosa herpetiformis Dowling-Meara type
    • epidermolysis bullosa simplex, herpetiformis
    • generalized severe epidermolysis bullosa simplex
Homo sapiens (human)
DOID:0111346
  • epidermolysis bullosa simplex with mottled pigmentation
  • Aliases:
    • EBSMP
    • Epidermolysis bullosa simplex-MP
    • speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering
Homo sapiens (human)
DOID:0110710
  • hypotrichosis 13
  • Aliases:
    • Hypt13
    • hypotrichosis with woolly hair
Homo sapiens (human)
DOID:12720
  • cerebral atherosclerosis
Mus musculus (house mouse)
DOID:0080272
  • nephrotic syndrome type 16
Rattus norvegicus (Norway rat)
DOID:0080272
  • nephrotic syndrome type 16
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:0060290
  • Ohdo syndrome, SBBYS variant
  • Aliases:
    • Say-Barber-Biesecker-Young-Simpson syndrome
    • blepharophimosis-intellectual disability syndrome, SBBYS type
Mus musculus (house mouse)
DOID:0050989
  • episodic ataxia type 1
Mus musculus (house mouse)
DOID:0050989
  • episodic ataxia type 1
Rattus norvegicus (Norway rat)
DOID:0080416
  • developmental and epileptic encephalopathy 32
  • Aliases:
    • DEE32
    • early infantile epileptic encephalopathy 32
Mus musculus (house mouse)
DOID:0080416
  • developmental and epileptic encephalopathy 32
  • Aliases:
    • DEE32
    • early infantile epileptic encephalopathy 32
Rattus norvegicus (Norway rat)
DOID:0080461
  • developmental and epileptic encephalopathy 26
  • Aliases:
    • DEE26
    • early infantile epileptic encephalopathy 26
Mus musculus (house mouse)
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: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:0070389
  • developmental and epileptic encephalopathy 103
  • Aliases:
    • DEE103
    • early infantile epileptic encephalopathy 103
Rattus norvegicus (Norway rat)
DOID:0070389
  • developmental and epileptic encephalopathy 103
  • Aliases:
    • DEE103
    • early infantile epileptic encephalopathy 103
Mus musculus (house mouse)
DOID:0050963
  • spinocerebellar ataxia type 13
Mus musculus (house mouse)
DOID:2842
  • Jervell-Lange Nielsen syndrome
  • Aliases:
    • Jervell and Lange-Nielson syndrome
Mus musculus (house mouse)
DOID:0110647
  • long QT syndrome 5
  • Aliases:
    • LQT5
Mus musculus (house mouse)
DOID:2843
  • long QT syndrome
  • Aliases:
    • LQT
    • long Q-T syndrome
Rattus norvegicus (Norway rat)
DOID:2842
  • Jervell-Lange Nielsen syndrome
  • Aliases:
    • Jervell and Lange-Nielson syndrome
Rattus norvegicus (Norway rat)
DOID:0110647
  • long QT syndrome 5
  • Aliases:
    • LQT5
Rattus norvegicus (Norway rat)
DOID:0110648
  • long QT syndrome 6
  • Aliases:
    • LQT6
Rattus norvegicus (Norway rat)
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Last updated: December 9, 2024