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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 January 28, 2025
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 3576 - 3600 of 5716 in total
Disease ID ▲ Disease Name Gene Symbol Gene ID Organism Source
DOID:0112205
  • developmental and epileptic encephalopathy 69
  • Aliases:
    • DEE69
    • early infantile epileptic encephalopathy 69
Homo sapiens (human)
DOID:0112207
  • developmental and epileptic encephalopathy 71
  • Aliases:
    • DEE71
    • early infantile epileptic encephalopathy 71
    • glutaminase deficiency with neonatal epileptic encephalopathy
Homo sapiens (human)
DOID:0112209
  • developmental and epileptic encephalopathy 73
  • Aliases:
    • DEE73
    • early infantile epileptic encephalopathy 73
Homo sapiens (human)
DOID:0112210
  • developmental and epileptic encephalopathy 74
  • Aliases:
    • DEE74
    • early infantile epileptic encephalopathy 74
Homo sapiens (human)
DOID:0112213
  • multiple congenital anomalies-hypotonia-seizures syndrome 4
  • Aliases:
    • DEE77
    • GPIBD19
    • MCAHS4
    • developmental and epileptic encephalopathy 77
    • early infantile epileptic encephalopathy 77
    • glycosylphosphatidylinositol biosynthesis defect 19
Homo sapiens (human)
DOID:0112214
  • developmental and epileptic encephalopathy 78
  • Aliases:
    • DEE78
    • early infantile epileptic encephalopathy 78
Homo sapiens (human)
DOID:0112215
  • developmental and epileptic encephalopathy 79
  • Aliases:
    • DEE79
    • early infantile epileptic encephalopathy 79
Homo sapiens (human)
DOID:0112216
  • developmental and epileptic encephalopathy 80
  • Aliases:
    • DEE80
    • GPIBD20
    • early infantile epileptic encephalopathy 80
    • glycosylphosphatidylinositol biosynthesis defect 20
Homo sapiens (human)
DOID:0112217
  • developmental and epileptic encephalopathy 81
  • Aliases:
    • DEE81
    • early infantile epileptic encephalopathy 81
Homo sapiens (human)
DOID:0112218
  • developmental and epileptic encephalopathy 83
  • Aliases:
    • DEE83
    • early infantile epileptic encephalopathy 83
Homo sapiens (human)
DOID:0112219
  • developmental and epileptic encephalopathy 84
  • Aliases:
    • DEE84
    • Jamuar syndrome
    • early infantile epileptic encephalopathy 84
Homo sapiens (human)
DOID:0112222
  • developmental and epileptic encephalopathy 88
  • Aliases:
    • DEE88
    • early infantile epileptic encephalopathy 88
Homo sapiens (human)
DOID:0112223
  • developmental and epileptic encephalopathy 89
  • Aliases:
    • DEE89
    • early infantile epileptic encephalopathy 89
Homo sapiens (human)
DOID:0112224
  • chondrodysplasia with joint dislocations gPAPP type
  • Aliases:
    • gPAPP deficiency
Homo sapiens (human)
DOID:0112224
  • chondrodysplasia with joint dislocations gPAPP type
  • Aliases:
    • gPAPP deficiency
Mus musculus (house mouse)
DOID:0112228
  • lissencephaly 9 with complex brainstem malformation
  • Aliases:
    • LIS9
    • posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome
Homo sapiens (human)
DOID:0112230
  • lissencephaly 5
  • Aliases:
    • LIS5
Homo sapiens (human)
DOID:0112231
  • lissencephaly 7 with cerebellar hypoplasia
  • Aliases:
    • LIS7
Homo sapiens (human)
DOID:0112232
  • lissencephaly 3
  • Aliases:
    • LIS3
Homo sapiens (human)
DOID:0112233
  • lissencephaly 8
  • Aliases:
    • LIS8
Homo sapiens (human)
DOID:0112236
  • lissencephaly 6
  • Aliases:
    • LIS6
Homo sapiens (human)
DOID:0112237
  • lissencephaly 1
  • Aliases:
    • LIS1
    • PAFAH1B1-related lissencephaly
Homo sapiens (human)
DOID:0112238
  • X-linked lissencephaly 2
  • Aliases:
    • X-linked lissencephaly with abnormal genitalia
    • X-linked lissencephaly with ambiguous genitalia
    • X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome
    • XLAG
    • XLAG (X-linked lissencephaly with abnormal genitalia) syndrome
    • XLIS2
Homo sapiens (human)
DOID:0112240
  • Leber congenital amaurosis with early-onset deafness
  • Aliases:
    • LCAEOD
Homo sapiens (human)
DOID:0112242
  • congenital symmetric circumferential skin creases 1
  • Aliases:
    • CSCSC1
Homo sapiens (human)
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Last updated: April 6, 2026