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 676 - 700 of 4621 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▼
DOID:2214
  • obsolete inherited blood coagulation disease
Homo sapiens (human)
DOID:0110336
  • osteogenesis imperfecta type 8
  • Aliases:
    • OI8
    • osteogenesis imperfecta type VIII
Homo sapiens (human)
DOID:12549
  • hepatitis A
  • Aliases:
    • Viral hepatitis, type A
Homo sapiens (human)
DOID:0070111
  • Niemann-Pick disease type A
Homo sapiens (human)
DOID:0090041
  • torsion dystonia 4
Homo sapiens (human)
DOID:5940
  • malignant peripheral nerve sheath tumor
  • Aliases:
    • malignant neoplasm of the peripheral nerve Sheath
Homo sapiens (human)
DOID:758
  • situs inversus
  • Aliases:
    • Complete transposition
    • Laterality sequence
    • situs inversus viscerum
Homo sapiens (human)
DOID:11612
  • polycystic ovary syndrome
  • Aliases:
    • Multicystic ovaries
    • PCOS
    • Polycystic Ovarian disease
    • Polycystic ovaries
    • Stein-Leventhal synd.
    • Stein-Leventhal syndrome
    • polycystic ovary
Homo sapiens (human)
DOID:0070342
  • adult-onset type II citrullinemia
  • Aliases:
    • citrin deficiency
Homo sapiens (human)
DOID:0110346
  • osteogenesis imperfecta type 10
  • Aliases:
    • OI10
    • osteogenesis imperfecta type X
Homo sapiens (human)
DOID:1826
  • epilepsy
  • Aliases:
    • epilepsy syndrome
    • epileptic syndrome
Homo sapiens (human)
DOID:308
  • early myoclonic encephalopathy
  • Aliases:
    • Epileptic seizures - myoclonic
    • Epileptic seizures, myoclonic
    • Myoclonic seizure
    • Myoclonic seizure disorder
    • myoclonia epileptica
    • myoclonic epilepsy
Homo sapiens (human)
DOID:0110720
  • neuronal ceroid lipofuscinosis 4
  • Aliases:
    • CLN4B disease
    • autosomal dominant neuronal ceroid lipofuscinosis 4B
    • neuronal ceroid lipofuscinosis 4 Parry type
    • neuronal ceroid lipofuscinosis 4B
Homo sapiens (human)
DOID:3304
  • germinoma
Homo sapiens (human)
DOID:0080031
  • fibrous dysplasia
Homo sapiens (human)
DOID:0060390
  • distal 10q deletion syndrome
  • Aliases:
    • chromosome 10q26 deletion syndrome
    • distal monosomy 10q
    • monosomy 10qter
    • telomeric deletion 10q
    • terminal chromosome 10q26 deletion syndrome
Homo sapiens (human)
DOID:12550
  • hepatic coma
  • Aliases:
    • Hepatocerebral intoxication
Homo sapiens (human)
DOID:14261
  • fragile X syndrome
  • Aliases:
    • FRAGILE X MENTAL RETARDATION SYNDROME
    • MARKER X SYNDROME
    • MARTIN-BELL SYNDROME
Homo sapiens (human)
DOID:0050562
  • West syndrome
Homo sapiens (human)
DOID:0060305
  • megalocornea
  • Aliases:
    • anterior megalophthalmos
    • congenital anterior megalophthalmia
Homo sapiens (human)
DOID:0112147
  • retinitis pigmentosa 90
  • Aliases:
    • RP90
Homo sapiens (human)
DOID:0111232
  • congenital muscular dystrophy-dystroglycanopathy type A9
  • Aliases:
    • MDDGA9
    • Walker-Warburg syndrome or muscle-eye-brain disease DAG1-related
    • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A9
Homo sapiens (human)
DOID:0060840
  • isolated microphthalmia 1
  • Aliases:
    • MCOP1
Homo sapiens (human)
DOID:13945
  • CADASIL
  • Aliases:
    • cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
    • hereditary multi-infarct dementia
Homo sapiens (human)
DOID:0090114
  • Sorsby's fundus dystrophy
  • Aliases:
    • SFD
    • hemorrhagic macular dystrophy
    • pseudoinflammatory fundus dystrophy of Sorsby
Homo sapiens (human)

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Last updated: August 19, 2024