GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source Last Updated
Alliance of Genome Resources July 29, 2024
DisGeNET July 29, 2024
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 1251 - 1275 of 7942 in total
Disease ID ▲ Disease Name Gene Symbol Gene ID Organism
DOID:0070384
  • developmental and epileptic encephalopathy 98
  • Aliases:
    • DEE98
    • early infantile epileptic encephalopathy 98
Homo sapiens (human)
DOID:0070385
  • developmental and epileptic encephalopathy 99
  • Aliases:
    • DEE99
    • early infantile epileptic encephalopathy 99
Mus musculus (house mouse)
DOID:0070395
  • developmental and epileptic encephalopathy 110
  • Aliases:
    • DEE110
    • early infantile epileptic encephalopathy 110
Homo sapiens (human)
DOID:0070399
  • hypomyelinating leukodystrophy 18
  • Aliases:
    • HLD18
Homo sapiens (human)
DOID:0070403
  • hypomyelinating leukodystrophy 26
  • Aliases:
    • HLD26
Drosophila melanogaster (fruit fly)
DOID:0070403
  • hypomyelinating leukodystrophy 26
  • Aliases:
    • HLD26
Homo sapiens (human)
DOID:0070430
  • combined oxidative phosphorylation deficiency 57
  • Aliases:
    • COXPD57
Homo sapiens (human)
DOID:0070432
  • hyperphosphatasia with impaired intellectual development syndrome 5
  • Aliases:
    • GPIBD11
    • HPMRS5
    • glycosylphosphatidylinositol biosynthesis defect 11
    • hyperphosphatasia with mental retardation syndrome 5
Homo sapiens (human)
DOID:0070433
  • hyperphosphatasia with impaired intellectual development syndrome 1
  • Aliases:
    • GPIBD2
    • HPMRS1
    • glycosylphosphatidylinositol biosynthesis defect 2
    • hyperphosphatasia with mental retardation syndrome 1
Xenopus tropicalis (tropical clawed frog)
DOID:0070433
  • hyperphosphatasia with impaired intellectual development syndrome 1
  • Aliases:
    • GPIBD2
    • HPMRS1
    • glycosylphosphatidylinositol biosynthesis defect 2
    • hyperphosphatasia with mental retardation syndrome 1
Homo sapiens (human)
DOID:0070433
  • hyperphosphatasia with impaired intellectual development syndrome 1
  • Aliases:
    • GPIBD2
    • HPMRS1
    • glycosylphosphatidylinositol biosynthesis defect 2
    • hyperphosphatasia with mental retardation syndrome 1
Caenorhabditis elegans
DOID:0070433
  • hyperphosphatasia with impaired intellectual development syndrome 1
  • Aliases:
    • GPIBD2
    • HPMRS1
    • glycosylphosphatidylinositol biosynthesis defect 2
    • hyperphosphatasia with mental retardation syndrome 1
Mus musculus (house mouse)
DOID:0070433
  • hyperphosphatasia with impaired intellectual development syndrome 1
  • Aliases:
    • GPIBD2
    • HPMRS1
    • glycosylphosphatidylinositol biosynthesis defect 2
    • hyperphosphatasia with mental retardation syndrome 1
Saccharomyces cerevisiae S288C
DOID:0070433
  • hyperphosphatasia with impaired intellectual development syndrome 1
  • Aliases:
    • GPIBD2
    • HPMRS1
    • glycosylphosphatidylinositol biosynthesis defect 2
    • hyperphosphatasia with mental retardation syndrome 1
Danio rerio (zebrafish)
DOID:0070433
  • hyperphosphatasia with impaired intellectual development syndrome 1
  • Aliases:
    • GPIBD2
    • HPMRS1
    • glycosylphosphatidylinositol biosynthesis defect 2
    • hyperphosphatasia with mental retardation syndrome 1
Drosophila melanogaster (fruit fly)
DOID:0070433
  • hyperphosphatasia with impaired intellectual development syndrome 1
  • Aliases:
    • GPIBD2
    • HPMRS1
    • glycosylphosphatidylinositol biosynthesis defect 2
    • hyperphosphatasia with mental retardation syndrome 1
Rattus norvegicus (Norway rat)
DOID:0070434
  • hyperphosphatasia with impaired intellectual development syndrome 2
  • Aliases:
    • GPIBD6
    • HPMRS2
    • glycosylphosphatidylinositol biosynthesis defect 6
    • hyperphosphatasia with mental retardation syndrome 2
Homo sapiens (human)
DOID:0070435
  • hyperphosphatasia with impaired intellectual development syndrome 3
  • Aliases:
    • GPIBD8
    • HPMRS3
    • glycosylphosphatidylinositol biosynthesis defect 8
    • hyperphosphatasia with mental retardation syndrome 3
Drosophila melanogaster (fruit fly)
DOID:0070435
  • hyperphosphatasia with impaired intellectual development syndrome 3
  • Aliases:
    • GPIBD8
    • HPMRS3
    • glycosylphosphatidylinositol biosynthesis defect 8
    • hyperphosphatasia with mental retardation syndrome 3
Homo sapiens (human)
DOID:0070436
  • hyperphosphatasia with impaired intellectual development syndrome 4
  • Aliases:
    • GPIBD62
    • HPMRS6
    • glycosylphosphatidylinositol biosynthesis defect 62
    • hyperphosphatasia with mental retardation syndrome 6
Homo sapiens (human)
DOID:0070436
  • hyperphosphatasia with impaired intellectual development syndrome 4
  • Aliases:
    • GPIBD62
    • HPMRS6
    • glycosylphosphatidylinositol biosynthesis defect 62
    • hyperphosphatasia with mental retardation syndrome 6
Drosophila melanogaster (fruit fly)
DOID:0070437
  • hyperphosphatasia with impaired intellectual development syndrome 6
  • Aliases:
    • GPIBD40
    • HPMRS4
    • glycosylphosphatidylinositol biosynthesis defect 40
    • hyperphosphatasia with mental retardation syndrome 4
Homo sapiens (human)
DOID:0070450
  • mitochondrial DNA depletion syndrome 19
Homo sapiens (human)
DOID:0070450
  • mitochondrial DNA depletion syndrome 19
Mus musculus (house mouse)
DOID:0070459
  • hereditary spastic paraplegia 90A
  • Aliases:
    • SPG90A
    • autosomal dominant spastic paraplegia 90A
Homo sapiens (human)

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Last updated: August 19, 2024