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 1626 - 1650 of 4621 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism
DOID:3081
  • cystic lymphangioma
  • Aliases:
    • cystic Hygroma
Homo sapiens (human)
DOID:9957
  • periostitis
Homo sapiens (human)
DOID:8946
  • severe nonproliferative diabetic retinopathy
  • Aliases:
    • High risk non proliferative diabetic retinopathy
    • Severe NPDR
Homo sapiens (human)
DOID:0111182
  • familial hemiplegic migraine 2
  • Aliases:
    • FHM2
    • Familial hemiplegic migraine-2
    • MHP2
Homo sapiens (human)
DOID:0060178
  • familial hemiplegic migraine
Homo sapiens (human)
DOID:4997
  • Camurati-Engelmann disease
  • Aliases:
    • Diaphyseal dysplasia
    • Engelman's disease
    • progressive diaphyseal dysplasia
Homo sapiens (human)
DOID:0060706
  • X-linked lymphoproliferative syndrome 2
  • Aliases:
    • XIAP deficiency
    • XLP2
Homo sapiens (human)
DOID:13677
  • SAPHO syndrome
  • Aliases:
    • Synovitis, acne, pustulosis palmaris, hyperostosis, osteomyelitis syndrome
Homo sapiens (human)
DOID:1920
  • hyperuricemia
  • Aliases:
    • Blood urate raized
    • uricacidemia
Homo sapiens (human)
DOID:0111512
  • metachondromatosis
  • Aliases:
    • METCDS
Homo sapiens (human)
DOID:0060174
  • GABA aminotransferase deficiency
  • Aliases:
    • Gamma-amino butyric acid transaminase deficiency
    • gamma-aminobutyric acid transaminase deficiency
Homo sapiens (human)
DOID:0050562
  • West syndrome
Homo sapiens (human)
DOID:0080562
  • congenital disorder of glycosylation Ij
  • Aliases:
    • Congenital disorder of glycosylation 1j
Homo sapiens (human)
DOID:0110676
  • congenital myasthenic syndrome 13
  • Aliases:
    • CMS13
    • CMSTA2
    • congenital myasthenic syndrome 13 with tubular aggregates
    • congenital myasthenic syndrome with tubular aggregates 2
Homo sapiens (human)
DOID:1142
  • alternating exotropia
Homo sapiens (human)
DOID:1143
  • exotropia
  • Aliases:
    • Divergent Strabismus
    • Divergent concomitant strabismus
Homo sapiens (human)
DOID:11853
  • monocular exotropia
Homo sapiens (human)
DOID:9111
  • cutaneous leishmaniasis
  • Aliases:
    • Asian Desert Cutaneous Leishmaniasis
    • Leproid leishmaniasis
    • diffuse cutaneous leishmaniasis
Homo sapiens (human)
DOID:2748
  • glycogen storage disease III
  • Aliases:
    • Glycogen storage disease 3
    • Glycogen storage disease, type III
    • amylo 1,6 glucosidase deficiency
    • deficiency of debranching enzyme
    • deficiency of dextrin
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: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: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:9266
  • cystinuria
Homo sapiens (human)
DOID:2862
  • glucosephosphate dehydrogenase deficiency
  • Aliases:
    • Glucose-6-phosphate dehydrogenase deficiency
    • deficiency of G-6PD
Homo sapiens (human)

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Last updated: August 19, 2024