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 2851 - 2875 of 4621 in total
Disease ID Disease Name ▼ Gene Symbol Gene ID Organism
DOID:0080557
  • congenital disorder of glycosylation Ie
  • Aliases:
    • congenital disorder of glycosylation 1e
Homo sapiens (human)
DOID:0080556
  • congenital disorder of glycosylation Id
  • Aliases:
    • congenital disorder of glycosylation 1d
Homo sapiens (human)
DOID:0080555
  • congenital disorder of glycosylation Ic
  • Aliases:
    • congenital disorder of glycosylation 1c
Homo sapiens (human)
DOID:0080554
  • congenital disorder of glycosylation Ib
  • Aliases:
    • congenital disorder of glycosylation 1b
Homo sapiens (human)
DOID:0080552
  • congenital disorder of glycosylation Ia
  • Aliases:
    • PMM2-congenital disorder of glycosylation
    • congenital disorder of glycosylation 1a
Homo sapiens (human)
DOID:0060774
  • congenital diarrhea
Homo sapiens (human)
DOID:0060778
  • congenital diarrhea 7 with exudative enteropathy
  • Aliases:
    • congenital chronic diarrhea with exudative enteropathy
    • congenital chronic diarrhea with protein-losing enteropathy
    • congenital chronic diarrhoea with exudative enteropathy
    • congenital chronic diarrhoea with protein-losing enteropathy
    • congenital diarrhoea 7 with exudative enteropathy
Homo sapiens (human)
DOID:0060780
  • congenital diarrhea 6
  • Aliases:
    • chronic diarrhea due to guanylate cyclase 2C overactivity
    • chronic diarrhoea due to guanylate cyclase 2C overactivity
    • congenital diarrhoea 6
Homo sapiens (human)
DOID:0060776
  • congenital diarrhea 5 with tufting enteropathy
  • Aliases:
    • DIAR5
    • congenital diarrhoea 5 with tufting enteropathy
    • congenital familial intractable diarrhea with epithelial or epithelium abnormalities
    • congenital familial intractable diarrhoea with epithelial or epithelium abnormalities
    • congenital tufting enteropathy
    • tufting enteropathy
Homo sapiens (human)
DOID:3827
  • congenital diaphragmatic hernia
  • Aliases:
    • Diaphragmatic Hernia
Homo sapiens (human)
DOID:0060731
  • congenital central hypoventilation syndrome
  • Aliases:
    • CCHS
    • Ondine curse
    • Ondine syndrome
    • central congenital hypoventilation syndrome
    • congenital central alveolar hypoventilation syndrome
Homo sapiens (human)
DOID:0050674
  • congenital bile acid synthesis defect
  • Aliases:
    • 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency
    • CBA
    • cholestasis with delta(4)-3-oxosteroid-5-beta-reductase deficiency
Homo sapiens (human)
DOID:0111067
  • congenital bile acid synthesis defect 6
  • Aliases:
    • CBAS6
Homo sapiens (human)
DOID:0111068
  • congenital bile acid synthesis defect 4
  • Aliases:
    • CBAS4
    • intrahepatic cholestasis with defective conversion of trihydroxycoprostanic acid to cholic acid
    • trihydroxycoprostanic acid in bile
Homo sapiens (human)
DOID:0111070
  • congenital bile acid synthesis defect 3
  • Aliases:
    • CBAS3
    • oxysterol 7-alpha-hydroxylase deficiency
Homo sapiens (human)
DOID:0111069
  • congenital bile acid synthesis defect 2
  • Aliases:
    • CBAS2
    • cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency
Homo sapiens (human)
DOID:0111071
  • congenital bile acid synthesis defect 1
  • Aliases:
    • CBAS1
Homo sapiens (human)
DOID:11367
  • congenital aphakia
  • Aliases:
    • APHAKIA, CONGENITAL PRIMARY
    • Congenital absence of lens
Homo sapiens (human)
DOID:2236
  • congenital afibrinogenemia
  • Aliases:
    • Factor I deficiency
    • Fibrinogen deficiency
Homo sapiens (human)
DOID:0050546
  • congenital adrenal insufficiency
  • Aliases:
    • ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE
    • Adrenal insufficiency, congenital, with 46,XY sex reversal
    • P450scc DEFICIENCY
Homo sapiens (human)
DOID:0050811
  • congenital adrenal hyperplasia
  • Aliases:
    • adrenal hyperplasia 1
    • congenital lipoid adrenal hyperplasia
    • lipoid CAH
Homo sapiens (human)
DOID:0050572
  • cone-rod dystrophy
  • Aliases:
    • cone-rod retinal dystrophy
Homo sapiens (human)
DOID:0111012
  • cone-rod dystrophy 7
  • Aliases:
    • CORD7
Homo sapiens (human)
DOID:0111005
  • cone-rod dystrophy 2
  • Aliases:
    • CORD2
    • CRD2
    • RCRD2
    • cone-rod retinal dystrophy 2
    • retinal cone-rod dystrophy 2
Homo sapiens (human)
DOID:0050795
  • cone dystrophy
  • Aliases:
    • retinal cone dystrophy
Homo sapiens (human)

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Last updated: August 19, 2024