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 1226 - 1250 of 4649 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source ▲
DOID:0080447
  • developmental and epileptic encephalopathy 43
  • Aliases:
    • DEE43
    • early infantile epileptic encephalopathy 43
Homo sapiens (human)
DOID:0080448
  • developmental and epileptic encephalopathy 48
  • Aliases:
    • DEE48
    • early infantile epileptic encephalopathy 48
Homo sapiens (human)
DOID:0080451
  • developmental and epileptic encephalopathy 29
  • Aliases:
    • DEE29
    • early infantile epileptic encephalopathy 29
Homo sapiens (human)
DOID:0080453
  • developmental and epileptic encephalopathy 25
  • Aliases:
    • DEE25
    • developmental and epileptic encephalopathy 25, with amelogenesis imperfecta
    • early infantile epileptic encephalopathy 25
Homo sapiens (human)
DOID:0080454
  • developmental and epileptic encephalopathy 42
  • Aliases:
    • DEE42
    • early infantile epileptic encephalopathy 42
Homo sapiens (human)
DOID:0080455
  • developmental and epileptic encephalopathy 52
  • Aliases:
    • DEE52
    • early infantile epileptic encephalopathy 52
Homo sapiens (human)
DOID:0080456
  • developmental and epileptic encephalopathy 46
  • Aliases:
    • DEE46
    • early infantile epileptic encephalopathy 46
Homo sapiens (human)
DOID:0080459
  • developmental and epileptic encephalopathy 12
  • Aliases:
    • DEE12
    • early infantile epileptic encephalopathy 12
Homo sapiens (human)
DOID:0080460
  • developmental and epileptic encephalopathy 34
  • Aliases:
    • DEE34
    • early infantile epileptic encephalopathy 34
Homo sapiens (human)
DOID:0080462
  • developmental and epileptic encephalopathy 7
  • Aliases:
    • KCNQ2-related epileptic encephalopathy
    • KCNQ2-related neonatal epileptic encephalopathy
    • early infantile epileptic encephalopathy 7
Homo sapiens (human)
DOID:0080463
  • developmental and epileptic encephalopathy 33
  • Aliases:
    • DEE33
    • early infantile epileptic encephalopathy 33
Homo sapiens (human)
DOID:0080464
  • developmental and epileptic encephalopathy 53
  • Aliases:
    • DEE53
    • early infantile epileptic encephalopathy 53
Homo sapiens (human)
DOID:0080465
  • developmental and epileptic encephalopathy 30
  • Aliases:
    • DEE30
    • early infantile epileptic encephalopathy 30
Homo sapiens (human)
DOID:0080467
  • developmental and epileptic encephalopathy 2
  • Aliases:
    • DEE2
    • EIEE2
    • X-linked infantile spasm syndrome 2
    • early infantile epileptic encephalopathy 2
Homo sapiens (human)
DOID:0080468
  • developmental and epileptic encephalopathy 1
  • Aliases:
    • DEE1
    • X-linked infantile spasm syndrome 1
    • early infantile epileptic encephalopathy 1
Homo sapiens (human)
DOID:0080471
  • developmental and epileptic encephalopathy 92
Homo sapiens (human)
DOID:0080472
  • developmental and epileptic encephalopathy 91
  • Aliases:
    • infantile or early childhood epileptic encephalopathy 1
Homo sapiens (human)
DOID:0080473
  • developmental delay and seizures with or without movement abnormalities
Homo sapiens (human)
DOID:0080475
  • psoriasis 2
Homo sapiens (human)
DOID:0080484
  • peroxisome biogenesis disorder 10A
  • Aliases:
    • peroxisome biogenesis disorder 10A (Zellweger)
Homo sapiens (human)
DOID:0080486
  • peroxisome biogenesis disorder 12A
  • Aliases:
    • peroxisome biogenesis disorder 12A (Zellweger)
Homo sapiens (human)
DOID:0080487
  • peroxisome biogenesis disorder 13A
  • Aliases:
    • peroxisome biogenesis disorder 13A (Zellweger)
Homo sapiens (human)
DOID:0080488
  • mucolipidosis
Homo sapiens (human)
DOID:0080490
  • mucolipidosis type IV
Homo sapiens (human)
DOID:0080491
  • cerebral cavernous malformation 1
Homo sapiens (human)

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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