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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 10276 - 10300 of 15957 in total
Disease ID Disease Name Gene Symbol ▼ Gene ID Organism Source
DOID:0080463
  • developmental and epileptic encephalopathy 33
  • Aliases:
    • DEE33
    • early infantile epileptic encephalopathy 33
Mus musculus (house mouse)
DOID:0050600
  • ABCD syndrome
  • Aliases:
    • ABCDS
    • albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness
Rattus norvegicus (Norway rat)
DOID:11372
  • megacolon
  • Aliases:
    • Dilatation of colon
Rattus norvegicus (Norway rat)
DOID:0110953
  • Waardenburg syndrome type 4A
  • Aliases:
    • WS4A
    • Waardenburg syndrome type IVA
    • Waardenburg syndrome with Hirschsprung disease type 4A
Rattus norvegicus (Norway rat)
DOID:9258
  • Waardenburg syndrome
  • Aliases:
    • Waardenburg Shah syndrome
    • Waardenburg's syndrome
    • van der Hoeve Halbertsona Waardenburg syndrome
Rattus norvegicus (Norway rat)
DOID:0050600
  • ABCD syndrome
  • Aliases:
    • ABCDS
    • albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness
Mus musculus (house mouse)
DOID:11372
  • megacolon
  • Aliases:
    • Dilatation of colon
Mus musculus (house mouse)
DOID:0110953
  • Waardenburg syndrome type 4A
  • Aliases:
    • WS4A
    • Waardenburg syndrome type IVA
    • Waardenburg syndrome with Hirschsprung disease type 4A
Mus musculus (house mouse)
DOID:900
  • hepatopulmonary syndrome
Mus musculus (house mouse)
DOID:9258
  • Waardenburg syndrome
  • Aliases:
    • Waardenburg Shah syndrome
    • Waardenburg's syndrome
    • van der Hoeve Halbertsona Waardenburg syndrome
Mus musculus (house mouse)
DOID:12583
  • velocardiofacial syndrome
  • Aliases:
    • Shprintzen syndrome
    • VCF-Velocardiofacial syndrome
Rattus norvegicus (Norway rat)
DOID:0060365
  • mandibulofacial dysostosis with alopecia
  • Aliases:
    • MFDA
Rattus norvegicus (Norway rat)
DOID:0060365
  • mandibulofacial dysostosis with alopecia
  • Aliases:
    • MFDA
Mus musculus (house mouse)
DOID:0050571
  • congenital disorder of glycosylation type II
Mus musculus (house mouse)
DOID:1485
  • cystic fibrosis
  • Aliases:
    • CF
    • mucoviscidosis
Drosophila melanogaster (fruit fly)
DOID:0111665
  • ectodermal dysplasia 10B
  • Aliases:
    • ECTD10B
    • ectodermal dysplasia 10B, hypohidrotic/hair/nail type, autosomal recessive
Mus musculus (house mouse)
DOID:0111663
  • ectodermal dysplasia 10A
  • Aliases:
    • ECTD10A
    • ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
Mus musculus (house mouse)
DOID:0111664
  • ectodermal dysplasia 1
  • Aliases:
    • CST syndrome
    • Christ-Siemens-Touraine syndrome
    • ED1
    • HED1
    • X-linked anhidrotic ectodermal dysplasia
    • XHED
    • XLHED
    • ectodermal dysplasia 1, anhidrotic
    • ectodermal dysplasia 1, hypohidrotic, X-linked
    • ectodermal dysplasia 1, hypohidrotic/hair/tooth type, X-linked
    • hypohidrotic ectodermal dysplasia, X-Linked
Mus musculus (house mouse)
DOID:14793
  • hypohidrotic ectodermal dysplasia
Mus musculus (house mouse)
DOID:14498
  • lipoid proteinosis
  • Aliases:
    • Lipid proteinosis
    • URBACH-WIETHE DISEASE
Mus musculus (house mouse)
DOID:14498
  • lipoid proteinosis
  • Aliases:
    • Lipid proteinosis
    • URBACH-WIETHE DISEASE
Rattus norvegicus (Norway rat)
DOID:9252
  • amino acid metabolic disorder
  • Aliases:
    • inborn errors of amino acid metabolism
Rattus norvegicus (Norway rat)
DOID:0111594
  • distal arthrogryposis type 5D
  • Aliases:
    • DA5D
    • distal arthrogryposis type 5 without ophthalmoparesis
    • distal arthrogryposis type 5 without ophthalmoplegia
Rattus norvegicus (Norway rat)
DOID:0050646
  • distal arthrogryposis
  • Aliases:
    • Arthrogryposis Multiplex Congenita
Rattus norvegicus (Norway rat)
DOID:0111594
  • distal arthrogryposis type 5D
  • Aliases:
    • DA5D
    • distal arthrogryposis type 5 without ophthalmoparesis
    • distal arthrogryposis type 5 without ophthalmoplegia
Mus musculus (house mouse)
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024