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 1 - 25 of 4621 in total
Disease ID Disease Name ▲ Gene Symbol Gene ID Organism
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:0111453
  • 2-aminoadipic 2-oxoadipic aciduria
  • Aliases:
    • AMOXAD
    • alpha-aminoadipic aciduria
Homo sapiens (human)
DOID:0050573
  • 2-hydroxyglutaric aciduria
Homo sapiens (human)
DOID:0110004
  • 3-methylglutaconic aciduria type 3
  • Aliases:
    • 3-methylglutaconic aciduria type III
    • Costeff optic atrophy syndrome
    • Costeff syndrome
    • Iraqi-Jewish optic atrophy plus
    • MGA3
    • autosomal recessive optic atrophy plus syndrome
    • autosomal recessive optic atrophy type 3
    • infantile optic atrophy with chorea and spastic paraplegia
Homo sapiens (human)
DOID:0110006
  • 3-methylglutaconic aciduria type 4
  • Aliases:
    • 3-methylglutaconic aciduria type IV
    • MGA type IV
    • MGA4
    • MGCA4
Homo sapiens (human)
DOID:0060336
  • 3-methylglutaconic aciduria
Homo sapiens (human)
DOID:0060575
  • 3MC syndrome 1
Homo sapiens (human)
DOID:0060576
  • 3MC syndrome 2
Homo sapiens (human)
DOID:0060577
  • 3MC syndrome 3
Homo sapiens (human)
DOID:0060225
  • 3MC syndrome
  • Aliases:
    • craniofacial-ulnar-renal syndrome
    • oculopalatoskeletal syndrome
Homo sapiens (human)
DOID:0060417
  • 3p deletion syndrome
  • Aliases:
    • chromosome 3pter-P25 deletion syndrome
    • distal monosomy 3p
Homo sapiens (human)
DOID:0111773
  • 46,XY sex reversal 8
  • Aliases:
    • SRXY8
    • TDD
    • male pseudohermaphroditism due to deficiency of testicular 17,20-desmolase
Homo sapiens (human)
DOID:14448
  • 46,XY sex reversal
  • Aliases:
    • 46 XY gonadal dysgenesis
    • Pure gonadal dysgenesis 46,XY
    • Swyer syndrome
Homo sapiens (human)
DOID:7004
  • ACTH-secreting pituitary adenoma
  • Aliases:
    • ACTH-Producing Pituitary Adenoma
    • Corticotroph adenoma
    • Corticotropinoma
Homo sapiens (human)
DOID:0080952
  • AMED syndrome
  • Aliases:
    • AMEDS
Homo sapiens (human)
DOID:0050763
  • ARC syndrome
  • Aliases:
    • ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS
    • Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome
    • Arthrogryposis-renal dysfunction-cholestasis
Homo sapiens (human)
DOID:0060227
  • Adams-Oliver syndrome
  • Aliases:
    • Adams Oliver syndrome
Homo sapiens (human)
DOID:13774
  • Addison's disease
  • Aliases:
    • Addison disease
    • Addison disease, chronic adrenal insufficiency
    • HYPOADRENOCORTICISM, FAMILIAL
    • primary adrenocortical insufficiency
    • primary hypoadrenalism
Homo sapiens (human)
DOID:0050629
  • Aicardi-Goutieres syndrome
  • Aliases:
    • AGS
    • Cree encephalitis
Homo sapiens (human)
DOID:9245
  • Alagille syndrome
  • Aliases:
    • Alagille-Watson syndrome
    • Arteriohepatic dysplasia
Homo sapiens (human)
DOID:0050630
  • Aland Island eye disease
  • Aliases:
    • FORSIUS-ERIKSSON TYPE OCULAR ALBINISM
    • Forsius-Eriksson syndrome
Homo sapiens (human)
DOID:0080053
  • Albright's hereditary osteodystrophy
  • Aliases:
    • Albright hereditary osteodystrophy
    • pseudohypoparathyroidism type 1a
Homo sapiens (human)
DOID:4252
  • Alexander disease
  • Aliases:
    • Alexander's disease
Homo sapiens (human)
DOID:0080122
  • Alpers-Huttenlocher syndrome
  • Aliases:
    • Alper's syndrome
    • Alpers disease
    • Alpers progressive infantile poliodystrophy
    • Alpers syndrome
    • Alpers' disease or gray-matter degeneration
    • Diffuse Cerebral Sclerosis of Schilder
    • mitochondrial DNA depletion syndrome 4a
    • progressive sclerosing poliodystrophy
Homo sapiens (human)
DOID:10983
  • Alport syndrome
  • Aliases:
    • Hereditary Nephritis
Homo sapiens (human)

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Supported by JST NBDC Grant Number JPMJND2204

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Last updated: August 19, 2024