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 1726 - 1750 of 4621 in total
Disease ID ▲ Disease Name Gene Symbol Gene ID Organism
DOID:0111012
  • cone-rod dystrophy 7
  • Aliases:
    • CORD7
Homo sapiens (human)
DOID:0111027
  • hemochromatosis type 2A
  • Aliases:
    • HFE2A
Homo sapiens (human)
DOID:0111029
  • hemochromatosis type 1
  • Aliases:
    • HFE1
    • symptomatic form of HFE-related hereditary hemochromatosis
    • symptomatic form of classic hemochromatosis
    • symptomatic form of hemochromatosis type 1
Homo sapiens (human)
DOID:0111034
  • hemochromatosis type 2
  • Aliases:
    • HFE2
    • JHH
    • juvenile hemochromatosis
Homo sapiens (human)
DOID:0111035
  • CADASIL 1
  • Aliases:
    • autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 1
Homo sapiens (human)
DOID:0111037
  • glycine N-methyltransferase deficiency
  • Aliases:
    • GNMT deficiency
    • hypermethioninemia due to GNMT deficiency
    • hypermethioninemia due to glycine N-methyltransferase deficiency
Homo sapiens (human)
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: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: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:0111045
  • platelet-type bleeding disorder 9
  • Aliases:
    • BDPLT9
    • GP Ia deficiency
    • collagen platelet receptor deficiency
    • glycoprotein Ia deficiency
Homo sapiens (human)
DOID:0111046
  • platelet-type bleeding disorder 10
  • Aliases:
    • BDPLT10
    • CD36 deficiency
    • platelet glycoprotein IV deficiency
Homo sapiens (human)
DOID:0111047
  • platelet-type bleeding disorder 14
  • Aliases:
    • BDPLT14
    • thromboxane synthase deficiency
Homo sapiens (human)
DOID:0111049
  • platelet-type bleeding disorder 17
  • Aliases:
    • BDPLT17
    • hereditary thrombasthenia-thrombocytopenia
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
Homo sapiens (human)
DOID:0111054
  • von Willebrand's disease 3
  • Aliases:
    • VWD type 3
    • VWD3
    • von Willebrand disease type 3
    • von Willebrand disease type III
Homo sapiens (human)
DOID:0111056
  • platelet-type bleeding disorder 3
  • Aliases:
    • BDPLT3
    • PT-VWD
    • platelet type-von Willebrand disease
    • pseudo-von Willebrand disease
    • von Willebrand disease platelet-type
Homo sapiens (human)
DOID:0111057
  • platelet-type bleeding disorder 11
  • Aliases:
    • BDPLT11
    • GP VI deficiency
    • glycoprotein VI deficiency
Homo sapiens (human)
DOID:0111058
  • platelet-type bleeding disorder 12
  • Aliases:
    • BDPLT12
    • PGHS1 deficiency
    • platelet COX1 deficiency
    • platelet cyclooxygenase 1 deficiency
    • platelet prostaglandin-endoperoxide synthase 1 deficiency
Homo sapiens (human)
DOID:0111060
  • Ambras type hypertrichosis universalis congenita
  • Aliases:
    • Ambras syndrome
    • HTC1
Homo sapiens (human)
DOID:0111061
  • familial hypobetalipoproteinemia 2
  • Aliases:
    • FHBL2
    • combined familial hypolipidemia
Homo sapiens (human)
DOID:0111062
  • familial hypobetalipoproteinemia 1
  • Aliases:
    • FHBL1
Homo sapiens (human)
DOID:0111063
  • hyperphosphatemic familial tumoral calcinosis
  • Aliases:
    • HFTC
    • HHS
    • PHPTC
    • cortical hyperostosis with hyperphosphatemia
    • familial Teutschlaender disease
    • familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome
    • hypercalcemic tumoral calcinosis
    • hyperostosis with hyperphosphatemia
    • hyperphosphatemia hyperostosis
    • hyperphosphatemia hyperostosis syndrome
    • hyperphosphatemia tumoral calcinosis
    • lipocalcinogranulomatosis
    • morbus Teutschlaender
    • primary hyperphosphatemic tumoral calcinosis
    • tumoral calcinosis with hyperphosphatemia
Homo sapiens (human)

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Last updated: August 19, 2024