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 126 - 150 of 4621 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism
DOID:0111071
  • congenital bile acid synthesis defect 1
  • Aliases:
    • CBAS1
Homo sapiens (human)
DOID:0060869
  • late-onset retinal degeneration
  • Aliases:
    • LORD
    • autosomal dominant late-onset retinal degeneration
Homo sapiens (human)
DOID:0112160
  • autosomal dominant nonsyndromic deafness 79
  • Aliases:
    • DFNA79
Homo sapiens (human)
DOID:0080473
  • developmental delay and seizures with or without movement abnormalities
Homo sapiens (human)
DOID:0110352
  • retinitis pigmentosa 59
  • Aliases:
    • RP59
Homo sapiens (human)
DOID:5050
  • Ehrlich tumor carcinoma
  • Aliases:
    • Ehrlich tumour carcinoma
    • Ehrlich's tumor
    • Ehrlich's tumour
Homo sapiens (human)
DOID:0050574
  • L-2-hydroxyglutaric aciduria
  • Aliases:
    • L-2-HYDROXYGLUTARIC ACIDEMIA
Homo sapiens (human)
DOID:0081183
  • autosomal recessive intellectual developmental disorder 7
Homo sapiens (human)
DOID:0060263
  • porencephaly
Homo sapiens (human)
DOID:0112315
  • brain small vessel disease 3
  • Aliases:
    • BSVD3
Homo sapiens (human)
DOID:0050807
  • Kahrizi syndrome
  • Aliases:
    • KHRZ
    • intellectual disability, Kahrizi type
    • intellectual disability-cataract-coloboma-kyphosis syndrome
Homo sapiens (human)
DOID:7378
  • pituitary hypoplasia
Homo sapiens (human)
DOID:13300
  • Scheuermann's disease
  • Aliases:
    • Juvenile osteochondritis of the spine
    • Juvenile osteochondrosis of Scheurermann
    • Juvenile osteochondrosis of spine
    • Scheuermann's kyphosis
    • Sherman's Disease
Homo sapiens (human)
DOID:0090046
  • dystonia 21
Homo sapiens (human)
DOID:0090041
  • torsion dystonia 4
Homo sapiens (human)
DOID:0090034
  • myoclonic dystonia 11
Homo sapiens (human)
DOID:0090058
  • torsion dystonia with onset in infancy
Homo sapiens (human)
DOID:0090050
  • dystonia 27
Homo sapiens (human)
DOID:0090039
  • torsion dystonia 6
Homo sapiens (human)
DOID:0060730
  • torsion dystonia 1
  • Aliases:
    • dystonia musculorum deformans
Homo sapiens (human)
DOID:0090042
  • torsion dystonia 17
Homo sapiens (human)
DOID:0090038
  • torsion dystonia 2
Homo sapiens (human)
DOID:0090037
  • torsion dystonia 13
Homo sapiens (human)
DOID:0090055
  • dystonia 25
Homo sapiens (human)
DOID:0090043
  • dystonia 5
Homo sapiens (human)

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Last updated: August 19, 2024