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 6926 - 6950 of 15957 in total
Disease ID ▲ Disease Name Gene Symbol Gene ID Organism Source
DOID:0111039
  • hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
  • Aliases:
    • hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency
    • psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency
Mus musculus (house mouse)
DOID:0111040
  • glycogen storage disease IXd
  • Aliases:
    • GSD IXd
    • GSD due to muscle phosphorylase kinase deficiency
    • GSD type 9D
    • GSD type 9E
    • GSD type IXd
    • GSD type IXe
    • GSD9D
    • X-linked muscke glycogenosis
    • glycogen storage disease due to muscle phosphorylase kinase deficiency
    • glycogen storage disease type 9D
    • glycogen storage disease type 9E
    • glycogen storage disease type IXd
    • glycogen storage disease type IXe
    • glycogenosis due to muscle phosphorylase kinase deficiency
    • glycogenosis type 9D
    • glycogenosis type 9E
    • glycogenosis type IXd
    • glycogenosis type IXe
    • muscle phosphorylase kinase deficiency
Mus musculus (house mouse)
DOID:0111040
  • glycogen storage disease IXd
  • Aliases:
    • GSD IXd
    • GSD due to muscle phosphorylase kinase deficiency
    • GSD type 9D
    • GSD type 9E
    • GSD type IXd
    • GSD type IXe
    • GSD9D
    • X-linked muscke glycogenosis
    • glycogen storage disease due to muscle phosphorylase kinase deficiency
    • glycogen storage disease type 9D
    • glycogen storage disease type 9E
    • glycogen storage disease type IXd
    • glycogen storage disease type IXe
    • glycogenosis due to muscle phosphorylase kinase deficiency
    • glycogenosis type 9D
    • glycogenosis type 9E
    • glycogenosis type IXd
    • glycogenosis type IXe
    • muscle phosphorylase kinase deficiency
Caenorhabditis elegans
DOID:0111040
  • glycogen storage disease IXd
  • Aliases:
    • GSD IXd
    • GSD due to muscle phosphorylase kinase deficiency
    • GSD type 9D
    • GSD type 9E
    • GSD type IXd
    • GSD type IXe
    • GSD9D
    • X-linked muscke glycogenosis
    • glycogen storage disease due to muscle phosphorylase kinase deficiency
    • glycogen storage disease type 9D
    • glycogen storage disease type 9E
    • glycogen storage disease type IXd
    • glycogen storage disease type IXe
    • glycogenosis due to muscle phosphorylase kinase deficiency
    • glycogenosis type 9D
    • glycogenosis type 9E
    • glycogenosis type IXd
    • glycogenosis type IXe
    • muscle phosphorylase kinase deficiency
Drosophila melanogaster (fruit fly)
DOID:0111040
  • glycogen storage disease IXd
  • Aliases:
    • GSD IXd
    • GSD due to muscle phosphorylase kinase deficiency
    • GSD type 9D
    • GSD type 9E
    • GSD type IXd
    • GSD type IXe
    • GSD9D
    • X-linked muscke glycogenosis
    • glycogen storage disease due to muscle phosphorylase kinase deficiency
    • glycogen storage disease type 9D
    • glycogen storage disease type 9E
    • glycogen storage disease type IXd
    • glycogen storage disease type IXe
    • glycogenosis due to muscle phosphorylase kinase deficiency
    • glycogenosis type 9D
    • glycogenosis type 9E
    • glycogenosis type IXd
    • glycogenosis type IXe
    • muscle phosphorylase kinase deficiency
Homo sapiens (human)
DOID:0111041
  • glycogen storage disease IXb
  • Aliases:
    • GSD IXb
    • GSD due to liver and muscle phosphorylase kinase deficiency
    • GSD type 9B
    • GSD type IXb
    • GSD9B
    • glycogen storage disease type 9B
    • glycogen storage disease type IXb
    • glycogenosis due to liver and muscle phosphorylase kinase deficiency
    • glycogenosis type 9B
    • glycogenosis type IXb
Homo sapiens (human)
DOID:0111041
  • glycogen storage disease IXb
  • Aliases:
    • GSD IXb
    • GSD due to liver and muscle phosphorylase kinase deficiency
    • GSD type 9B
    • GSD type IXb
    • GSD9B
    • glycogen storage disease type 9B
    • glycogen storage disease type IXb
    • glycogenosis due to liver and muscle phosphorylase kinase deficiency
    • glycogenosis type 9B
    • glycogenosis type IXb
Mus musculus (house mouse)
DOID:0111041
  • glycogen storage disease IXb
  • Aliases:
    • GSD IXb
    • GSD due to liver and muscle phosphorylase kinase deficiency
    • GSD type 9B
    • GSD type IXb
    • GSD9B
    • glycogen storage disease type 9B
    • glycogen storage disease type IXb
    • glycogenosis due to liver and muscle phosphorylase kinase deficiency
    • glycogenosis type 9B
    • glycogenosis type IXb
Drosophila melanogaster (fruit fly)
DOID:0111042
  • glycogen storage disease IXa
  • Aliases:
    • GSD type 9A
    • GSD type IXa
    • GSD9A
    • glycogen storage disease type 9A
    • glycogen storage disease type IXa
    • glycogenosis type 9A
    • glycogenosis type IXa
Mus musculus (house mouse)
DOID:0111042
  • glycogen storage disease IXa
  • Aliases:
    • GSD type 9A
    • GSD type IXa
    • GSD9A
    • glycogen storage disease type 9A
    • glycogen storage disease type IXa
    • glycogenosis type 9A
    • glycogenosis type IXa
Homo sapiens (human)
DOID:0111042
  • glycogen storage disease IXa
  • Aliases:
    • GSD type 9A
    • GSD type IXa
    • GSD9A
    • glycogen storage disease type 9A
    • glycogen storage disease type IXa
    • glycogenosis type 9A
    • glycogenosis type IXa
Caenorhabditis elegans
DOID:0111042
  • glycogen storage disease IXa
  • Aliases:
    • GSD type 9A
    • GSD type IXa
    • GSD9A
    • glycogen storage disease type 9A
    • glycogen storage disease type IXa
    • glycogenosis type 9A
    • glycogenosis type IXa
Drosophila melanogaster (fruit fly)
DOID:0111043
  • glycogen storage disease IXc
  • Aliases:
    • GSD type 9C
    • GSD type IXc
    • GSD9C
    • glycogen storage disease type 9C
    • glycogen storage disease type IXc
    • glycogenosis type 9C
    • glycogenosis type IXc
Mus musculus (house mouse)
DOID:0111043
  • glycogen storage disease IXc
  • Aliases:
    • GSD type 9C
    • GSD type IXc
    • GSD9C
    • glycogen storage disease type 9C
    • glycogen storage disease type IXc
    • glycogenosis type 9C
    • glycogenosis type IXc
Rattus norvegicus (Norway rat)
DOID:0111043
  • glycogen storage disease IXc
  • Aliases:
    • GSD type 9C
    • GSD type IXc
    • GSD9C
    • glycogen storage disease type 9C
    • glycogen storage disease type IXc
    • glycogenosis type 9C
    • glycogenosis type IXc
Homo sapiens (human)
DOID:0111044
  • gray platelet syndrome
  • Aliases:
    • BDPLT4
    • GPS
    • platelet alpha-granule deficiency
    • platelet-type bleeding disorder 4
Homo sapiens (human)
DOID:0111046
  • platelet-type bleeding disorder 10
  • Aliases:
    • BDPLT10
    • CD36 deficiency
    • platelet glycoprotein IV deficiency
Homo sapiens (human)
DOID:0111046
  • platelet-type bleeding disorder 10
  • Aliases:
    • BDPLT10
    • CD36 deficiency
    • platelet glycoprotein IV deficiency
Mus musculus (house mouse)
DOID:0111046
  • platelet-type bleeding disorder 10
  • Aliases:
    • BDPLT10
    • CD36 deficiency
    • platelet glycoprotein IV deficiency
Drosophila melanogaster (fruit fly)
DOID:0111046
  • platelet-type bleeding disorder 10
  • Aliases:
    • BDPLT10
    • CD36 deficiency
    • platelet glycoprotein IV deficiency
Rattus norvegicus (Norway rat)
DOID:0111046
  • platelet-type bleeding disorder 10
  • Aliases:
    • BDPLT10
    • CD36 deficiency
    • platelet glycoprotein IV deficiency
Caenorhabditis elegans
DOID:0111050
  • Quebec platelet disorder
  • Aliases:
    • BDPLT5
    • factor V Quebec
    • platelet-type bleeding disorder 5
Homo sapiens (human)
DOID:0111051
  • platelet-type bleeding disorder 18
  • Aliases:
    • BDPLT18
    • bleeding disorder due to CalDAG-GEFI deficiency
    • bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency
Homo sapiens (human)
DOID:0111052
  • Scott syndrome
  • Aliases:
    • BDPLT7
    • SCTS
    • bleeding abnormality due to deficiency of platelet biding of factor X
    • familial prothrombin consumption inhibitor
    • familial prothrombin conversion defect
    • platelet-type bleeding disorder 7
    • prothrombin consumption deficiency
Mus musculus (house mouse)
DOID:0111052
  • Scott syndrome
  • Aliases:
    • BDPLT7
    • SCTS
    • bleeding abnormality due to deficiency of platelet biding of factor X
    • familial prothrombin consumption inhibitor
    • familial prothrombin conversion defect
    • platelet-type bleeding disorder 7
    • prothrombin consumption deficiency
Homo sapiens (human)

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Last updated: December 9, 2024