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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 5901 - 5925 of 15957 in total
Disease ID Disease Name ▲ Gene Symbol Gene ID Organism Source
DOID:2236
  • congenital afibrinogenemia
  • Aliases:
    • Factor I deficiency
    • Fibrinogen deficiency
Homo sapiens (human)
DOID:2236
  • congenital afibrinogenemia
  • Aliases:
    • Factor I deficiency
    • Fibrinogen deficiency
Mus musculus (house mouse)
DOID:2236
  • congenital afibrinogenemia
  • Aliases:
    • Factor I deficiency
    • Fibrinogen deficiency
Rattus norvegicus (Norway rat)
DOID:0090118
  • congenital amegakaryocytic thrombocytopenia
  • Aliases:
    • CAMT
    • congenital amegakaryocytic thrombocytopenic purpura
Mus musculus (house mouse)
DOID:0090118
  • congenital amegakaryocytic thrombocytopenia
  • Aliases:
    • CAMT
    • congenital amegakaryocytic thrombocytopenic purpura
Homo sapiens (human)
DOID:0112359
  • congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
  • Aliases:
    • CAKUTHED
Homo sapiens (human)
DOID:0112359
  • congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay
  • Aliases:
    • CAKUTHED
Mus musculus (house mouse)
DOID:0111862
  • congenital bilateral absence of vas deferens
  • Aliases:
    • CAVD
    • CBAVD
    • congenital bilateral agenesis of vas deferens
    • congenital bilateral aplasia of vas deferens
Danio rerio (zebrafish)
DOID:0111862
  • congenital bilateral absence of vas deferens
  • Aliases:
    • CAVD
    • CBAVD
    • congenital bilateral agenesis of vas deferens
    • congenital bilateral aplasia of vas deferens
Rattus norvegicus (Norway rat)
DOID:0111862
  • congenital bilateral absence of vas deferens
  • Aliases:
    • CAVD
    • CBAVD
    • congenital bilateral agenesis of vas deferens
    • congenital bilateral aplasia of vas deferens
Mus musculus (house mouse)
DOID:0111862
  • congenital bilateral absence of vas deferens
  • Aliases:
    • CAVD
    • CBAVD
    • congenital bilateral agenesis of vas deferens
    • congenital bilateral aplasia of vas deferens
Homo sapiens (human)
DOID:0111862
  • congenital bilateral absence of vas deferens
  • Aliases:
    • CAVD
    • CBAVD
    • congenital bilateral agenesis of vas deferens
    • congenital bilateral aplasia of vas deferens
Saccharomyces cerevisiae S288C
DOID:0111071
  • congenital bile acid synthesis defect 1
  • Aliases:
    • CBAS1
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:0111069
  • congenital bile acid synthesis defect 2
  • Aliases:
    • CBAS2
    • cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency
Saccharomyces cerevisiae S288C
DOID:0111070
  • congenital bile acid synthesis defect 3
  • Aliases:
    • CBAS3
    • oxysterol 7-alpha-hydroxylase deficiency
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:0111066
  • congenital bile acid synthesis defect 5
  • Aliases:
    • CBAS5
Homo sapiens (human)
DOID:0111066
  • congenital bile acid synthesis defect 5
  • Aliases:
    • CBAS5
Saccharomyces cerevisiae S288C
DOID:0111066
  • congenital bile acid synthesis defect 5
  • Aliases:
    • CBAS5
Mus musculus (house mouse)
DOID:0111066
  • congenital bile acid synthesis defect 5
  • Aliases:
    • CBAS5
Rattus norvegicus (Norway rat)
DOID:0111067
  • congenital bile acid synthesis defect 6
  • Aliases:
    • CBAS6
Homo sapiens (human)
DOID:0111067
  • congenital bile acid synthesis defect 6
  • Aliases:
    • CBAS6
Mus musculus (house mouse)
DOID:0111067
  • congenital bile acid synthesis defect 6
  • Aliases:
    • CBAS6
Saccharomyces cerevisiae S288C
DOID:0060731
  • congenital central hypoventilation syndrome
  • Aliases:
    • CCHS
    • Ondine curse
    • Ondine syndrome
    • central congenital hypoventilation syndrome
    • congenital central alveolar hypoventilation syndrome
Homo sapiens (human)
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Last updated: December 9, 2024