GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source Last Updated
Alliance of Genome Resources October 9, 2024
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 1726 - 1750 of 4649 in total
Disease ID ▲ Disease Name Gene Symbol Gene ID Organism Source
DOID:0090045
  • childhood onset GLUT1 deficiency syndrome 2
Homo sapiens (human)
DOID:0090048
  • dystonia 16
Homo sapiens (human)
DOID:0090050
  • dystonia 27
Homo sapiens (human)
DOID:0090052
  • dystonia 24
Homo sapiens (human)
DOID:0090056
  • dystonia 12
Homo sapiens (human)
DOID:0090059
  • enhanced S-cone syndrome
Homo sapiens (human)
DOID:0090060
  • Wolcott-Rallison syndrome
Homo sapiens (human)
DOID:0090064
  • familial cold autoinflammatory syndrome 3
Homo sapiens (human)
DOID:0090067
  • Fuhrmann syndrome
Homo sapiens (human)
DOID:0090068
  • giant axonal neuropathy 1
Homo sapiens (human)
DOID:0090070
  • hypogonadotropic hypogonadism
  • Aliases:
    • congenital idiopathic hypogonadotropic hypogonadism
    • hypogonadotropism
    • isolated congenital gonadotropin deficiency
Homo sapiens (human)
DOID:0090071
  • hypogonadotropic hypogonadism 11 with or without anosmia
Homo sapiens (human)
DOID:0090074
  • hypogonadotropic hypogonadism 8 with or without anosmia
Homo sapiens (human)
DOID:0090075
  • hypogonadotropic hypogonadism 15 with or without anosmia
Homo sapiens (human)
DOID:0090076
  • hypogonadotropic hypogonadism 18 with or without anosmia
Homo sapiens (human)
DOID:0090078
  • hypogonadotropic hypogonadism 7 with or without anosmia
Homo sapiens (human)
DOID:0090080
  • hypogonadotropic hypogonadism 16 with or without anosmia
Homo sapiens (human)
DOID:0090081
  • hypogonadotropic hypogonadism 22 with or without anosmia
Homo sapiens (human)
DOID:0090082
  • hypogonadotropic hypogonadism 20 with or without anosmia
Homo sapiens (human)
DOID:0090083
  • hypogonadotropic hypogonadism 2 with or without anosmia
Homo sapiens (human)
DOID:0090084
  • hypogonadotropic hypogonadism 5 with or without anosmia
Homo sapiens (human)
DOID:0090085
  • hypogonadotropic hypogonadism 9 with or without anosmia
Homo sapiens (human)
DOID:0090086
  • hypogonadotropic hypogonadism 6 with or without anosmia
Homo sapiens (human)
DOID:0090088
  • hypogonadotropic hypogonadism 24 without anosmia
  • Aliases:
    • isolated follicle-stimulating hormone deficiency
Homo sapiens (human)
DOID:0090091
  • hypogonadotropic hypogonadism 23 with or without anosmia
  • Aliases:
    • 46,XY DSD due to LHB deficiency
    • 46,XY DSD due to luteinizing hormone subunit beta deficiency
    • 46,XY disorder of sex development due to LHB deficiency
    • 46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency
    • Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency
    • Pasqualini syndrome
    • fertile eunuch syndrome
    • leydig cell hypoplasia due to LHB deficiency
Homo sapiens (human)

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Last updated: February 17, 2025