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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 1601 - 1625 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source ▲
DOID:0060334
  • transient neonatal diabetes mellitus
Mus musculus (house mouse)
DOID:0060334
  • transient neonatal diabetes mellitus
Homo sapiens (human)
DOID:0060335
  • autosomal dominant sideroblastic anemia 4
Homo sapiens (human)
DOID:0060335
  • autosomal dominant sideroblastic anemia 4
Mus musculus (house mouse)
DOID:0060337
  • CEDNIK syndrome
  • Aliases:
    • cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome
Homo sapiens (human)
DOID:0060337
  • CEDNIK syndrome
  • Aliases:
    • cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome
Mus musculus (house mouse)
DOID:0060340
  • ciliopathy
Saccharomyces cerevisiae S288C
DOID:0060340
  • ciliopathy
Homo sapiens (human)
DOID:0060340
  • ciliopathy
Danio rerio (zebrafish)
DOID:0060340
  • ciliopathy
Mus musculus (house mouse)
DOID:0060340
  • ciliopathy
Caenorhabditis elegans
DOID:0060340
  • ciliopathy
Rattus norvegicus (Norway rat)
DOID:0060341
  • agnathia-otocephaly complex
  • Aliases:
    • agnathia-holoprosencephaly-situs inversus syndrome
    • dysgnathia complex agnathia-holoprosencephaly
    • holoprosencephaly-agnathia
    • otocephaly
Mus musculus (house mouse)
DOID:0060341
  • agnathia-otocephaly complex
  • Aliases:
    • agnathia-holoprosencephaly-situs inversus syndrome
    • dysgnathia complex agnathia-holoprosencephaly
    • holoprosencephaly-agnathia
    • otocephaly
Homo sapiens (human)
DOID:0060342
  • acromelic frontonasal dysostosis
Homo sapiens (human)
DOID:0060348
  • hypoparathyroidism-retardation-dysmorphism syndrome
  • Aliases:
    • HRD syndrome
    • Sanjad-Sakati syndrome
    • hypoparathyroidism with short stature, mental retardation and seizures
Homo sapiens (human)
DOID:0060348
  • hypoparathyroidism-retardation-dysmorphism syndrome
  • Aliases:
    • HRD syndrome
    • Sanjad-Sakati syndrome
    • hypoparathyroidism with short stature, mental retardation and seizures
Saccharomyces cerevisiae S288C
DOID:0060349
  • microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
  • Aliases:
    • chorioretinal dysplasia-microcephaly-mental retardation syndrome
    • lymphedema and retinal folds with ficrocephaly and microphthalmos
    • lymphedema, microcephaly and chorioretinopathy syndrome
    • microcephaly lymphedema chorioretinal dysplasia
    • microcephaly, lymphedema, chorioretinal dysplasia syndrome
Homo sapiens (human)
DOID:0060350
  • adenine phosphoribosyltransferase deficiency
  • Aliases:
    • 2,8-dihydroxyadenine urolithiasis
    • APRT deficiency
Saccharomyces cerevisiae S288C
DOID:0060350
  • adenine phosphoribosyltransferase deficiency
  • Aliases:
    • 2,8-dihydroxyadenine urolithiasis
    • APRT deficiency
Homo sapiens (human)
DOID:0060350
  • adenine phosphoribosyltransferase deficiency
  • Aliases:
    • 2,8-dihydroxyadenine urolithiasis
    • APRT deficiency
Caenorhabditis elegans
DOID:0060350
  • adenine phosphoribosyltransferase deficiency
  • Aliases:
    • 2,8-dihydroxyadenine urolithiasis
    • APRT deficiency
Mus musculus (house mouse)
DOID:0060350
  • adenine phosphoribosyltransferase deficiency
  • Aliases:
    • 2,8-dihydroxyadenine urolithiasis
    • APRT deficiency
Rattus norvegicus (Norway rat)
DOID:0060350
  • adenine phosphoribosyltransferase deficiency
  • Aliases:
    • 2,8-dihydroxyadenine urolithiasis
    • APRT deficiency
Drosophila melanogaster (fruit fly)
DOID:0060352
  • Kleefstra syndrome 1
  • Aliases:
    • 9q subtelomeric deletion syndrome
    • 9q-syndrome
    • 9q34 deletion syndrome
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