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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 15951 - 15957 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source ▲
DOID:0081180
  • autosomal recessive intellectual developmental disorder 12
Homo sapiens (human)
DOID:0080575
  • Larsen-like syndrome B3GAT3 type
  • Aliases:
    • Larsen-like syndrome, B3GAT3 type
    • multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome
Homo sapiens (human)
DOID:0050814
  • temtamy preaxial brachydactyly syndrome
  • Aliases:
    • PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY 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:0080736
  • Ehlers-Danlos syndrome musculocontractural type 1
Homo sapiens (human)
DOID:0070433
  • hyperphosphatasia with impaired intellectual development syndrome 1
  • Aliases:
    • GPIBD2
    • HPMRS1
    • glycosylphosphatidylinositol biosynthesis defect 2
    • hyperphosphatasia with mental retardation syndrome 1
Homo sapiens (human)
DOID:0080138
  • multiple congenital anomalies-hypotonia-seizures syndrome 1
Homo sapiens (human)
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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: December 9, 2024