GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source Last Updated
Alliance of Genome Resources July 29, 2024
DisGeNET July 29, 2024
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 5051 - 5075 of 7942 in total
Disease ID ▲ Disease Name Gene Symbol Gene ID Organism
DOID:1919
  • Lesch-Nyhan syndrome
  • Aliases:
    • Complete hypoxanthine-guanine phosphoribosyltransferase deficiency
    • HG-PRT deficiency
    • Hypoxanthine-guanine phosphoribosyltransferase deficiency
    • Hypoxanthine-guanine-phosphoribosyltransferase deficiency
    • Lesch - Nyhan syndrome
    • X-linked hyperuricemia
    • deficiency of IMP pyrophosphorylase
    • hypoxanthine guanine phosphoribosyltransferase deficiency
Mus musculus (house mouse)
DOID:1919
  • Lesch-Nyhan syndrome
  • Aliases:
    • Complete hypoxanthine-guanine phosphoribosyltransferase deficiency
    • HG-PRT deficiency
    • Hypoxanthine-guanine phosphoribosyltransferase deficiency
    • Hypoxanthine-guanine-phosphoribosyltransferase deficiency
    • Lesch - Nyhan syndrome
    • X-linked hyperuricemia
    • deficiency of IMP pyrophosphorylase
    • hypoxanthine guanine phosphoribosyltransferase deficiency
Homo sapiens (human)
DOID:1919
  • Lesch-Nyhan syndrome
  • Aliases:
    • Complete hypoxanthine-guanine phosphoribosyltransferase deficiency
    • HG-PRT deficiency
    • Hypoxanthine-guanine phosphoribosyltransferase deficiency
    • Hypoxanthine-guanine-phosphoribosyltransferase deficiency
    • Lesch - Nyhan syndrome
    • X-linked hyperuricemia
    • deficiency of IMP pyrophosphorylase
    • hypoxanthine guanine phosphoribosyltransferase deficiency
Rattus norvegicus (Norway rat)
DOID:192
  • sex cord-gonadal stromal tumor
  • Aliases:
    • Sex Cord-Stromal neoplasm
    • Sex cord stromal tumour
    • Specialized gonadal neoplasm
    • Specialized gonadal tumor
    • Specialized gonadal tumour
    • sex cord-gonadal stromal tumour
Homo sapiens (human)
DOID:1920
  • hyperuricemia
  • Aliases:
    • Blood urate raized
    • uricacidemia
Rattus norvegicus (Norway rat)
DOID:1920
  • hyperuricemia
  • Aliases:
    • Blood urate raized
    • uricacidemia
Mus musculus (house mouse)
DOID:1920
  • hyperuricemia
  • Aliases:
    • Blood urate raized
    • uricacidemia
Danio rerio (zebrafish)
DOID:1920
  • hyperuricemia
  • Aliases:
    • Blood urate raized
    • uricacidemia
Homo sapiens (human)
DOID:1920
  • hyperuricemia
  • Aliases:
    • Blood urate raized
    • uricacidemia
Xenopus laevis (African clawed frog)
DOID:1921
  • Klinefelter syndrome
  • Aliases:
    • 47, XXY
    • Hypogonadotropic Hypogonadism
    • Klinefelter's syndrome
    • XXY syndrome
    • XXY trisomy
Homo sapiens (human)
DOID:1923
  • disorder of sexual development
  • Aliases:
    • sex development disorder
    • sex differentiation disease
Homo sapiens (human)
DOID:1924
  • hypogonadism
Mus musculus (house mouse)
DOID:1924
  • hypogonadism
Rattus norvegicus (Norway rat)
DOID:1924
  • hypogonadism
Homo sapiens (human)
DOID:1925
  • Coffin-Siris syndrome
  • Aliases:
    • Dwarfism-Onychodysplasia
    • Fifth Digit Syndrome
    • Short Stature-Onychodysplasia.
Homo sapiens (human)
DOID:1926
  • Gaucher's disease
  • Aliases:
    • Gaucher disease
    • acid beta-glucosidase deficiency
    • glocucerebrosidase deficiency
    • glucosylceramide beta-glucosidase deficiency
    • kerasin thesaurismosis
Saccharomyces cerevisiae S288C
DOID:1926
  • Gaucher's disease
  • Aliases:
    • Gaucher disease
    • acid beta-glucosidase deficiency
    • glocucerebrosidase deficiency
    • glucosylceramide beta-glucosidase deficiency
    • kerasin thesaurismosis
Rattus norvegicus (Norway rat)
DOID:1926
  • Gaucher's disease
  • Aliases:
    • Gaucher disease
    • acid beta-glucosidase deficiency
    • glocucerebrosidase deficiency
    • glucosylceramide beta-glucosidase deficiency
    • kerasin thesaurismosis
Caenorhabditis elegans
DOID:1926
  • Gaucher's disease
  • Aliases:
    • Gaucher disease
    • acid beta-glucosidase deficiency
    • glocucerebrosidase deficiency
    • glucosylceramide beta-glucosidase deficiency
    • kerasin thesaurismosis
Drosophila melanogaster (fruit fly)
DOID:1926
  • Gaucher's disease
  • Aliases:
    • Gaucher disease
    • acid beta-glucosidase deficiency
    • glocucerebrosidase deficiency
    • glucosylceramide beta-glucosidase deficiency
    • kerasin thesaurismosis
Homo sapiens (human)
DOID:1926
  • Gaucher's disease
  • Aliases:
    • Gaucher disease
    • acid beta-glucosidase deficiency
    • glocucerebrosidase deficiency
    • glucosylceramide beta-glucosidase deficiency
    • kerasin thesaurismosis
Mus musculus (house mouse)
DOID:1927
  • sphingolipidosis
  • Aliases:
    • sphingolipidoses
Homo sapiens (human)
DOID:1928
  • Williams-Beuren syndrome
  • Aliases:
    • Fanconi Schlesinger syndrome
    • WBS
Homo sapiens (human)
DOID:1929
  • supravalvular aortic stenosis
  • Aliases:
    • Supra-valvular aortic stenosis
Homo sapiens (human)
DOID:1930
  • Laurence-Moon syndrome
  • Aliases:
    • LNMS
Homo sapiens (human)

About Release Notes Help Feedback

Click here to visit the beta site.


International Collaboration

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


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024