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 4926 - 4950 of 7942 in total
Disease ID Disease Name Gene Symbol ▲ Gene ID Organism
DOID:0090061
  • familial cold autoinflammatory syndrome
  • Aliases:
    • FCAS
Homo sapiens (human)
DOID:0090062
  • familial cold autoinflammatory syndrome 1
Homo sapiens (human)
DOID:0090065
  • familial cold autoinflammatory syndrome 4
Homo sapiens (human)
DOID:5826
  • breast lymphoma
  • Aliases:
    • Lymphoma of the breast
    • lymphoma of breast
    • malignant lymphoma of breast
Homo sapiens (human)
DOID:5230
  • hepatoerythropoietic porphyria
Homo sapiens (human)
DOID:0050816
  • urofacial syndrome
  • Aliases:
    • Ochoa syndrome
    • hydronephrosis with peculiar facial expression
Homo sapiens (human)
DOID:0090075
  • hypogonadotropic hypogonadism 15 with or without anosmia
Homo sapiens (human)
DOID:0111843
  • Paganini-Miozzo syndrome
  • Aliases:
    • MRXSPM
Homo sapiens (human)
DOID:5715
  • functionless pituitary adenoma
  • Aliases:
    • Non-Functioning neoplasm of the Pituitary
    • Non-Secretory adenoma of the Pituitary gland
Homo sapiens (human)
DOID:0090140
  • cortisone reductase deficiency 2
  • Aliases:
    • CORTRD2
Homo sapiens (human)
DOID:0050696
  • fetal alcohol spectrum disorder
Homo sapiens (human)
DOID:0060890
  • ectopic Cushing syndrome
  • Aliases:
    • Cushing syndrome due to ectopic ACTH secretion
    • ectopic ACTH secreting tumor
Homo sapiens (human)
DOID:2997
  • Sertoli-Leydig cell tumor
Homo sapiens (human)
DOID:0112248
  • 17-beta hydroxysteroid dehydrogenase 3 deficiency
  • Aliases:
    • 17-KSR deficiency
    • 17-beta-hydroxysteroid dehydrogenase 3 deficiency
    • 17-ketoreductase deficiency
    • 17-ketosteroidreductase deficiency
    • 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
    • male pseudohermaphroditism with gynecomastia
    • neutral 17-beta-hydroxysteroid oxidoreductase deficiency
Homo sapiens (human)
DOID:0050951
  • hereditary ataxia
Homo sapiens (human)
DOID:0050857
  • Perrault syndrome
Homo sapiens (human)
DOID:1701
  • steroid inherited metabolic disorder
Homo sapiens (human)
DOID:4085
  • trophoblastic neoplasm
  • Aliases:
    • Trophoblastic tumor
Homo sapiens (human)
DOID:0070224
  • progressive familial intrahepatic cholestasis 4
  • Aliases:
    • PFIC4
    • TJP2 deficit
Homo sapiens (human)
DOID:0111071
  • congenital bile acid synthesis defect 1
  • Aliases:
    • CBAS1
Homo sapiens (human)
DOID:0050590
  • severe congenital neutropenia
Saccharomyces cerevisiae S288C
DOID:0081134
  • 3-methylglutaconic aciduria type 7b
Saccharomyces cerevisiae S288C
DOID:0081133
  • 3-methylglutaconic aciduria type 7a
Saccharomyces cerevisiae S288C
DOID:12144
  • low compliance bladder
  • Aliases:
    • Low bladder compliance
    • hyperactivity of bladder
    • hypertonic bladder
    • hypertonicity of bladder
Homo sapiens (human)
DOID:0050788
  • proximal symphalangism
  • Aliases:
    • Cushing's symphalangism
Homo sapiens (human)

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Last updated: August 19, 2024