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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 January 28, 2025
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 301 - 325 of 5716 in total
Disease ID ▲ Disease Name Gene Symbol Gene ID Organism Source
DOID:0050800
  • cerebral creatine deficiency syndrome 1
  • Aliases:
    • CEREBRAL CREATINE DEFICIENCY SYNDROME 1
    • SLC6A8 deficiency
    • creatine transporter deficiency
Homo sapiens (human)
DOID:0050802
  • Ehlers-Danlos syndrome spondylodysplastic type 2
  • Aliases:
    • EHLERS-DANLOS SYNDROME, PROGEROID TYPE, 2
    • Ehlers-Danlos syndrome progeroid type
Homo sapiens (human)
DOID:0050807
  • Kahrizi syndrome
  • Aliases:
    • KHRZ
    • intellectual disability, Kahrizi type
    • intellectual disability-cataract-coloboma-kyphosis syndrome
Homo sapiens (human)
DOID:0050809
  • mucopolysaccharidosis IX
Mus musculus (house mouse)
DOID:0050809
  • mucopolysaccharidosis IX
Homo sapiens (human)
DOID:0050811
  • congenital adrenal hyperplasia
  • Aliases:
    • adrenal hyperplasia 1
    • congenital lipoid adrenal hyperplasia
    • lipoid CAH
Homo sapiens (human)
DOID:0050812
  • spondyloepimetaphyseal dysplasia, Pakistani type
  • Aliases:
    • spondyloepimetaphyseal dysplasia Pakistani type
Homo sapiens (human)
DOID:0050813
  • spondyloepiphyseal dysplasia with congenital joint dislocations
  • Aliases:
    • CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS
    • CHST3-Related Skeletal Dysplasia
    • Humero-spinal dysostosis with congenital heart disease
    • Kozlowski Celermajer Tink syndrome
    • Omani Type
    • Spondyloepiphyseal Dysplasia
    • humero-spinal dysostosis
    • humerospinal dysostosis
Homo sapiens (human)
DOID:0050814
  • temtamy preaxial brachydactyly syndrome
  • Aliases:
    • PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE
Homo sapiens (human)
DOID:0050816
  • urofacial syndrome
  • Aliases:
    • Ochoa syndrome
    • hydronephrosis with peculiar facial expression
Mus musculus (house mouse)
DOID:0050816
  • urofacial syndrome
  • Aliases:
    • Ochoa syndrome
    • hydronephrosis with peculiar facial expression
Homo sapiens (human)
DOID:0050817
  • Stargardt disease
  • Aliases:
    • STARGARDT DISEASE 1
Mus musculus (house mouse)
DOID:0050820
  • atrioventricular block
  • Aliases:
    • AV block
Homo sapiens (human)
DOID:0050824
  • sinoatrial node disease
  • Aliases:
    • SA node
    • sinuatrial node
Mus musculus (house mouse)
DOID:0050827
  • rheumatic heart disease
  • Aliases:
    • rheumatic carditis
Homo sapiens (human)
DOID:0050830
  • peripheral artery disease
Homo sapiens (human)
DOID:0050831
  • familial encephalopathy with neuroserpin inclusion bodies
  • Aliases:
    • FENIB
Homo sapiens (human)
DOID:0050831
  • familial encephalopathy with neuroserpin inclusion bodies
  • Aliases:
    • FENIB
Mus musculus (house mouse)
DOID:0050833
  • orotic aciduria
Homo sapiens (human)
DOID:0050833
  • orotic aciduria
Caenorhabditis elegans
DOID:0050834
  • CHARGE syndrome
  • Aliases:
    • CHARGE association
Drosophila melanogaster (fruit fly)
DOID:0050834
  • CHARGE syndrome
  • Aliases:
    • CHARGE association
Mus musculus (house mouse)
DOID:0050834
  • CHARGE syndrome
  • Aliases:
    • CHARGE association
Homo sapiens (human)
DOID:0050835
  • generalized dystonia
  • Aliases:
    • familial dystonia
    • fragments of torsion dystonia
Mus musculus (house mouse)
DOID:0050836
  • focal dystonia
Mus musculus (house mouse)
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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

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Last updated: August 4, 2025