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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 7926 - 7950 of 15957 in total
Disease ID ▲ Disease Name Gene Symbol Gene ID Organism Source
DOID:0111705
  • oculoectodermal syndrome
  • Aliases:
    • Toriello-Lacassie-Droste syndrome
    • aplasia cutis congenita-epibulbar dermoids syndrome
Homo sapiens (human)
DOID:0111706
  • oblique facial clefting 1
  • Aliases:
    • Tessier number 4 facial cleft
Mus musculus (house mouse)
DOID:0111706
  • oblique facial clefting 1
  • Aliases:
    • Tessier number 4 facial cleft
Homo sapiens (human)
DOID:0111707
  • Bothnian type palmoplantar keratoderma
  • Aliases:
    • PPKB
    • diffuse palmoplantar keratoderma, Bothnian type
Homo sapiens (human)
DOID:0111707
  • Bothnian type palmoplantar keratoderma
  • Aliases:
    • PPKB
    • diffuse palmoplantar keratoderma, Bothnian type
Mus musculus (house mouse)
DOID:0111707
  • Bothnian type palmoplantar keratoderma
  • Aliases:
    • PPKB
    • diffuse palmoplantar keratoderma, Bothnian type
Rattus norvegicus (Norway rat)
DOID:0111715
  • Schaaf-Yang syndrome
  • Aliases:
    • MAGEL2-related PWLS
    • MAGEL2-related Prader-Willi-like syndrome
    • PWLS
    • SHFYNG
Homo sapiens (human)
DOID:0111715
  • Schaaf-Yang syndrome
  • Aliases:
    • MAGEL2-related PWLS
    • MAGEL2-related Prader-Willi-like syndrome
    • PWLS
    • SHFYNG
Rattus norvegicus (Norway rat)
DOID:0111717
  • isolated cryptophthalmia
  • Aliases:
    • CRYPTOP
    • unilateral or bilateral isolated cryptophthalmos
Mus musculus (house mouse)
DOID:0111717
  • isolated cryptophthalmia
  • Aliases:
    • CRYPTOP
    • unilateral or bilateral isolated cryptophthalmos
Homo sapiens (human)
DOID:0111722
  • amelogenesis imperfecta type 3C
  • Aliases:
    • AI3C
    • amelogenesis imperfecta type IIIC
    • autosomal recessive amelogenesis imperfecta hypocalcification type
Mus musculus (house mouse)
DOID:0111722
  • amelogenesis imperfecta type 3C
  • Aliases:
    • AI3C
    • amelogenesis imperfecta type IIIC
    • autosomal recessive amelogenesis imperfecta hypocalcification type
Homo sapiens (human)
DOID:0111723
  • Jacobsen Syndrome
  • Aliases:
    • Jacobsen distal 11q deletion syndrome
    • chromosome 11q deletion syndrome
    • partial 11q monosomy syndrome
Homo sapiens (human)
DOID:0111723
  • Jacobsen Syndrome
  • Aliases:
    • Jacobsen distal 11q deletion syndrome
    • chromosome 11q deletion syndrome
    • partial 11q monosomy syndrome
Mus musculus (house mouse)
DOID:0111725
  • geleophysic dysplasia 1
  • Aliases:
    • GPHYSD1
Mus musculus (house mouse)
DOID:0111725
  • geleophysic dysplasia 1
  • Aliases:
    • GPHYSD1
Homo sapiens (human)
DOID:0111726
  • geleophysic dysplasia 2
  • Aliases:
    • GPHYSD2
Mus musculus (house mouse)
DOID:0111726
  • geleophysic dysplasia 2
  • Aliases:
    • GPHYSD2
Caenorhabditis elegans
DOID:0111726
  • geleophysic dysplasia 2
  • Aliases:
    • GPHYSD2
Homo sapiens (human)
DOID:0111727
  • geleophysic dysplasia 3
  • Aliases:
    • GPHYSD3
Homo sapiens (human)
DOID:0111727
  • geleophysic dysplasia 3
  • Aliases:
    • GPHYSD3
Mus musculus (house mouse)
DOID:0111729
  • familial episodic pain syndrome 1
  • Aliases:
    • FEPS1
Mus musculus (house mouse)
DOID:0111729
  • familial episodic pain syndrome 1
  • Aliases:
    • FEPS1
Homo sapiens (human)
DOID:0111729
  • familial episodic pain syndrome 1
  • Aliases:
    • FEPS1
Caenorhabditis elegans
DOID:0111729
  • familial episodic pain syndrome 1
  • Aliases:
    • FEPS1
Drosophila melanogaster (fruit fly)
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Last updated: December 9, 2024