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 1026 - 1050 of 4621 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism
DOID:0111164
  • molybdenum cofactor deficiency type A
  • Aliases:
    • MOCOD type A
    • MOCODA
    • combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A
    • molybdenum cofactor deficiency complementation group A
Homo sapiens (human)
DOID:0060833
  • Griscelli syndrome type 2
  • Aliases:
    • GS2
    • Griscelli syndrome with hemophagocytic syndrome
    • Griscelli-Prunieras syndrome type 2
    • PAID syndrome
    • hypopigmentation-immunodeficiency with or without neurologic impairment syndrome
    • partial albinism and immunodeficiency syndrome
Homo sapiens (human)
DOID:0080440
  • developmental and epileptic encephalopathy 3
  • Aliases:
    • early infantile epileptic encephalopathy 3
Homo sapiens (human)
DOID:8463
  • corneal ulcer
Homo sapiens (human)
DOID:1171
  • hyperlipoproteinemia type V
  • Aliases:
    • Fredrickson type V lipaemia
    • familial hyperlipoproteinemia type V
    • familial type 5 hyperlipoproteinemia
Homo sapiens (human)
DOID:0050954
  • spinocerebellar ataxia type 1
Homo sapiens (human)
DOID:727
  • premenstrual tension
Homo sapiens (human)
DOID:4658
  • benign mastocytoma
Homo sapiens (human)
DOID:4659
  • extracutaneous mastocytoma
Homo sapiens (human)
DOID:3664
  • mast cell neoplasm
  • Aliases:
    • Mast cell Proliferative disease
    • mast cell tumor
    • mastocytoma
Homo sapiens (human)
DOID:0111061
  • familial hypobetalipoproteinemia 2
  • Aliases:
    • FHBL2
    • combined familial hypolipidemia
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
Homo sapiens (human)
DOID:11678
  • onchocerciasis
  • Aliases:
    • Infection by Onchocerca volvulus
    • Onchocerca volvulus infection
    • volvulosis
Homo sapiens (human)
DOID:8574
  • lichen disease
Homo sapiens (human)
DOID:2253
  • cervix disease
Homo sapiens (human)
DOID:6082
  • childhood testicular germ cell tumor
  • Aliases:
    • paediatric testicular germ cell neoplasm
    • paediatric testicular germ cell tumour
    • pediatric testicular germ cell neoplasm
    • pediatric testicular germ cell tumor
Homo sapiens (human)
DOID:120
  • female reproductive organ cancer
  • Aliases:
    • female reproductive cancer
    • malignant Gynecologic tumor
    • malignant neoplasm of female genital organ
Homo sapiens (human)
DOID:0111681
  • glutamate-cysteine ligase deficiency
  • Aliases:
    • gamma-glutamylcysteine synthetase deficiency
    • hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency
Homo sapiens (human)
DOID:0050730
  • coenzyme Q10 deficiency disease
  • Aliases:
    • COENZYME Q10 DEFICIENCY, PRIMARY
Homo sapiens (human)
DOID:0070238
  • primary coenzyme Q10 deficiency 1
  • Aliases:
    • COQ10D1
    • CoQ deficiency 1
    • CoQ10 deficiency, primary, 1
    • coenzyme Q deficiency 1
    • ubiquinone deficiency 1
Homo sapiens (human)
DOID:0111037
  • glycine N-methyltransferase deficiency
  • Aliases:
    • GNMT deficiency
    • hypermethioninemia due to GNMT deficiency
    • hypermethioninemia due to glycine N-methyltransferase deficiency
Homo sapiens (human)
DOID:0080489
  • GM1 gangliosidosis type 3
  • Aliases:
    • adult-onset GM1 gangliosidosis
Homo sapiens (human)
DOID:0080501
  • GM1 gangliosidosis type 2
  • Aliases:
    • juvenile GM1 gangliosidosis
Homo sapiens (human)
DOID:1866
  • giant cell reparative granuloma
  • Aliases:
    • central giant cell (reparative) granuloma
    • central giant cell granuloma
    • central giant cell reparative granuloma of jaw
Homo sapiens (human)
DOID:4423
  • sea-blue histiocytosis
  • Aliases:
    • Sea-blue histiocyte syndrome
Homo sapiens (human)

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Last updated: August 19, 2024