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 13176 - 13200 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source ▼
DOID:0070254
  • congenital disorder of glycosylation type IIb
  • Aliases:
    • CDG IIb
    • CDG2B
    • CDGIIb
    • glucosidase I deficiency
Caenorhabditis elegans
DOID:0070254
  • congenital disorder of glycosylation type IIb
  • Aliases:
    • CDG IIb
    • CDG2B
    • CDGIIb
    • glucosidase I deficiency
Rattus norvegicus (Norway rat)
DOID:0070254
  • congenital disorder of glycosylation type IIb
  • Aliases:
    • CDG IIb
    • CDG2B
    • CDGIIb
    • glucosidase I deficiency
Saccharomyces cerevisiae S288C
DOID:0070253
  • congenital disorder of glycosylation type IIa
  • Aliases:
    • Alkuraya syndrome
    • CDG IIa
    • CDG2A
    • CDGIIa
    • CDGS2
    • carbohydrate-deficient glycoprotein syndrome, type II
    • congenital disorder of glycosylation, type IIa
    • mental retardation, growth retardation, prominent columella, and open mouth
Drosophila melanogaster (fruit fly)
DOID:0070253
  • congenital disorder of glycosylation type IIa
  • Aliases:
    • Alkuraya syndrome
    • CDG IIa
    • CDG2A
    • CDGIIa
    • CDGS2
    • carbohydrate-deficient glycoprotein syndrome, type II
    • congenital disorder of glycosylation, type IIa
    • mental retardation, growth retardation, prominent columella, and open mouth
Rattus norvegicus (Norway rat)
DOID:0070253
  • congenital disorder of glycosylation type IIa
  • Aliases:
    • Alkuraya syndrome
    • CDG IIa
    • CDG2A
    • CDGIIa
    • CDGS2
    • carbohydrate-deficient glycoprotein syndrome, type II
    • congenital disorder of glycosylation, type IIa
    • mental retardation, growth retardation, prominent columella, and open mouth
Xenopus laevis (African clawed frog)
DOID:0070253
  • congenital disorder of glycosylation type IIa
  • Aliases:
    • Alkuraya syndrome
    • CDG IIa
    • CDG2A
    • CDGIIa
    • CDGS2
    • carbohydrate-deficient glycoprotein syndrome, type II
    • congenital disorder of glycosylation, type IIa
    • mental retardation, growth retardation, prominent columella, and open mouth
Danio rerio (zebrafish)
DOID:0070253
  • congenital disorder of glycosylation type IIa
  • Aliases:
    • Alkuraya syndrome
    • CDG IIa
    • CDG2A
    • CDGIIa
    • CDGS2
    • carbohydrate-deficient glycoprotein syndrome, type II
    • congenital disorder of glycosylation, type IIa
    • mental retardation, growth retardation, prominent columella, and open mouth
Caenorhabditis elegans
DOID:0070253
  • congenital disorder of glycosylation type IIa
  • Aliases:
    • Alkuraya syndrome
    • CDG IIa
    • CDG2A
    • CDGIIa
    • CDGS2
    • carbohydrate-deficient glycoprotein syndrome, type II
    • congenital disorder of glycosylation, type IIa
    • mental retardation, growth retardation, prominent columella, and open mouth
Xenopus tropicalis (tropical clawed frog)
DOID:0070253
  • congenital disorder of glycosylation type IIa
  • Aliases:
    • Alkuraya syndrome
    • CDG IIa
    • CDG2A
    • CDGIIa
    • CDGS2
    • carbohydrate-deficient glycoprotein syndrome, type II
    • congenital disorder of glycosylation, type IIa
    • mental retardation, growth retardation, prominent columella, and open mouth
Mus musculus (house mouse)
DOID:0070252
  • autosomal dominant Emery-Dreifuss muscular dystrophy 7
  • Aliases:
    • EDMD7
    • Emery-Dreifuss muscular dystrophy 7, autosomal dominant
Homo sapiens (human)
DOID:0070251
  • X-linked Emery-Dreifuss muscular dystrophy 6
  • Aliases:
    • EDMD6
    • Emery-Dreifuss muscular dystrophy 6, X-linked
    • XMPMA
    • myopathy, X-linked, with postural muscle atrophy
Homo sapiens (human)
DOID:0070250
  • autosomal dominant Emery-Dreifuss muscular dystrophy 5
  • Aliases:
    • EDMD5
    • Emery-Dreifuss muscular dystrophy 5, autosomal dominant
Mus musculus (house mouse)
DOID:0070250
  • autosomal dominant Emery-Dreifuss muscular dystrophy 5
  • Aliases:
    • EDMD5
    • Emery-Dreifuss muscular dystrophy 5, autosomal dominant
Drosophila melanogaster (fruit fly)
DOID:0070250
  • autosomal dominant Emery-Dreifuss muscular dystrophy 5
  • Aliases:
    • EDMD5
    • Emery-Dreifuss muscular dystrophy 5, autosomal dominant
Homo sapiens (human)
DOID:0070249
  • autosomal dominant Emery-Dreifuss muscular dystrophy 4
  • Aliases:
    • EDMD4
    • Emery-Dreifuss muscular dystrophy 4 with variable features
    • Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Mus musculus (house mouse)
DOID:0070249
  • autosomal dominant Emery-Dreifuss muscular dystrophy 4
  • Aliases:
    • EDMD4
    • Emery-Dreifuss muscular dystrophy 4 with variable features
    • Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Drosophila melanogaster (fruit fly)
DOID:0070249
  • autosomal dominant Emery-Dreifuss muscular dystrophy 4
  • Aliases:
    • EDMD4
    • Emery-Dreifuss muscular dystrophy 4 with variable features
    • Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Homo sapiens (human)
DOID:0070248
  • autosomal recessive Emery-Dreifuss muscular dystrophy 3
  • Aliases:
    • EDMD3
    • Emery-Dreifuss muscular dystrophy 3, autosomal recessive
Homo sapiens (human)
DOID:0070248
  • autosomal recessive Emery-Dreifuss muscular dystrophy 3
  • Aliases:
    • EDMD3
    • Emery-Dreifuss muscular dystrophy 3, autosomal recessive
Rattus norvegicus (Norway rat)
DOID:0070248
  • autosomal recessive Emery-Dreifuss muscular dystrophy 3
  • Aliases:
    • EDMD3
    • Emery-Dreifuss muscular dystrophy 3, autosomal recessive
Mus musculus (house mouse)
DOID:0070247
  • autosomal dominant Emery-Dreifuss muscular dystrophy 2
  • Aliases:
    • EDMD2
    • EMD2
    • Emery-Dreifuss muscular dystrophy 2, autosomal dominant
    • Emery-Dreifuss muscular dystrophy, autosomal dominant
    • Hauptmann-Thannhauser muscular dystrophy
    • autosomal dominant limb-girdle muscular dystrophy type 1B
    • muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant
    • scapuloilioperoneal atrophy with cardiopathy
Homo sapiens (human)
DOID:0070247
  • autosomal dominant Emery-Dreifuss muscular dystrophy 2
  • Aliases:
    • EDMD2
    • EMD2
    • Emery-Dreifuss muscular dystrophy 2, autosomal dominant
    • Emery-Dreifuss muscular dystrophy, autosomal dominant
    • Hauptmann-Thannhauser muscular dystrophy
    • autosomal dominant limb-girdle muscular dystrophy type 1B
    • muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant
    • scapuloilioperoneal atrophy with cardiopathy
Mus musculus (house mouse)
DOID:0070247
  • autosomal dominant Emery-Dreifuss muscular dystrophy 2
  • Aliases:
    • EDMD2
    • EMD2
    • Emery-Dreifuss muscular dystrophy 2, autosomal dominant
    • Emery-Dreifuss muscular dystrophy, autosomal dominant
    • Hauptmann-Thannhauser muscular dystrophy
    • autosomal dominant limb-girdle muscular dystrophy type 1B
    • muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant
    • scapuloilioperoneal atrophy with cardiopathy
Rattus norvegicus (Norway rat)
DOID:0070246
  • X-linked Emery-Dreifuss muscular dystrophy 1
  • Aliases:
    • EDMD1
    • EMD1
    • Emery-Dreifuss muscular dystrophy 1, X-linked
    • humeroperoneal neuromuscular disease
    • muscular dystrophy, tardive, Dreifuss-Emery type, with contractures
    • scapuloperoneal syndrome, X-linked
Mus musculus (house mouse)

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Last updated: December 9, 2024