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 4051 - 4075 of 7942 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism
DOID:0070113
  • Niemann-Pick disease type C1
  • Aliases:
    • NPC1
Mus musculus (house mouse)
DOID:3633
  • beta-mannosidosis
  • Aliases:
    • Beta-D-mannosidosis
    • beta-mannosidase deficiency
    • lysosomal beta-mannosidase deficiency
Caenorhabditis elegans
DOID:3328
  • temporal lobe epilepsy
  • Aliases:
    • epilepsy, temporal lobe
Mus musculus (house mouse)
DOID:2030
  • anxiety disorder
  • Aliases:
    • anxiety
    • anxiety state
Mus musculus (house mouse)
DOID:1825
  • childhood absence epilepsy
  • Aliases:
    • petit mal seizure
    • pyknolepsy
Mus musculus (house mouse)
DOID:0080411
  • familial adenomatous polyposis 3
Mus musculus (house mouse)
DOID:0080555
  • congenital disorder of glycosylation Ic
  • Aliases:
    • congenital disorder of glycosylation 1c
Caenorhabditis elegans
DOID:0111238
  • congenital muscular dystrophy-dystroglycanopathy type A13
  • Aliases:
    • MDDGA13
    • Walker-Warburg syndrome or muscle-eye-brain disease, B3GNT1-related
    • Walker-Warburg syndrome or muscle-eye-brain disease, B4GNT1-related
    • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A13
Caenorhabditis elegans
DOID:0070468
  • Yoon-Bellen neurodevelopmental syndrome
  • Aliases:
    • YOBELN
Mus musculus (house mouse)
DOID:0081326
  • oxoglutarate dehydrogenase deficiency
  • Aliases:
    • Oxoglutaric aciduria
    • alpha-ketoglutarate dehydrogenase deficiency
Mus musculus (house mouse)
DOID:0002116
  • pterygium
  • Aliases:
    • surfer's eye
Mus musculus (house mouse)
DOID:2513
  • basal cell carcinoma
  • Aliases:
    • Basal cell cancer
    • Basal cell carcinoma of skin
    • Basal cell neoplasm
    • Basal cell tumor
    • Epithelioma basal cell
    • Rodent ulcer
    • malignant Basal cell neoplasm
    • malignant basal cell tumor
Mus musculus (house mouse)
DOID:2237
  • hepatitis
  • Aliases:
    • acute and subacute liver necrosis
    • acute hepatitis
    • acute/subac. necrosis of liver
    • animal hepatitis
    • chronic hepatitis
    • chronic persistent hepatitis
Mus musculus (house mouse)
DOID:3314
  • angiomyolipoma
Mus musculus (house mouse)
DOID:5520
  • head and neck squamous cell carcinoma
  • Aliases:
    • carcinoma of the head and neck
    • squamous cell carcinoma of the head and neck
    • squamous cell carcinomas of head and neck
Mus musculus (house mouse)
DOID:9669
  • senile cataract
Mus musculus (house mouse)
DOID:678
  • progressive supranuclear palsy
  • Aliases:
    • Steele-Richardson-Olszewski syndrome
    • progressive supranuclear ophthalmoplegia
Mus musculus (house mouse)
DOID:11949
  • Creutzfeldt-Jakob disease
  • Aliases:
    • CJD
    • Creutzfeldt Jacob syndrome
    • Creutzfeldt Jakob disease
    • Creutzfeldt-Jacob disease
    • Jakob-Creutzfeldt disease
    • Subacute spongiform encephalopathy
    • Transmissible virus dementia
Caenorhabditis elegans
DOID:13276
  • Mycoplasma pneumoniae pneumonia
  • Aliases:
    • Mycoplasma pneumonia
    • Mycoplasmal pneumonia
    • Pneumonia due to Eaton's agent
    • Pneumonia due to Mycoplasma pneumoniae
    • Pneumonia due to Mycoplasma pneumoniae (disorder)
    • cold agglutinin positive pneumonia
Caenorhabditis elegans
DOID:10587
  • Krabbe disease
  • Aliases:
    • Diffuse globoid body sclerosis
    • GLOBOID CELL LEUKOENCEPHALOPATHY
    • Galactosylceramide beta-galactosidase deficiency
    • Krabbe's disease
    • Krabbe's leukodystrophy
    • beta galactocerebrosidase deficiency
    • globoid cell leukodystrophy
Caenorhabditis elegans
DOID:3081
  • cystic lymphangioma
  • Aliases:
    • cystic Hygroma
Homo sapiens (human)
DOID:12175
  • dyshormonogenic goiter
  • Aliases:
    • dyshormonogenic goitre
Homo sapiens (human)
DOID:0060744
  • Pendred Syndrome
  • Aliases:
    • TDH2B
    • congenital hypothyroidism due to dyshormonogenesis 2B
    • deafness with goiter
    • genetic defect in thyroid hormonogenesis 2B
    • goiter-deafness syndrome
    • thyroid dyshormonogenesis 2B
Homo sapiens (human)
DOID:11527
  • laryngostenosis
  • Aliases:
    • Stenosis of larynx
Homo sapiens (human)
DOID:2742
  • auditory system disease
  • Aliases:
    • ear and mastoid disease
Homo sapiens (human)

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Last updated: August 19, 2024