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 8501 - 8525 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source ▲
DOID:0112249
  • GAPO syndrome
  • Aliases:
    • growth delay-alopecia-pseudoanodontia-optic atrophy syndrome
Homo sapiens (human)
DOID:0112249
  • GAPO syndrome
  • Aliases:
    • growth delay-alopecia-pseudoanodontia-optic atrophy syndrome
Mus musculus (house mouse)
DOID:0112250
  • Gaucher's disease type IIIC
  • Aliases:
    • GD3C
    • Gaucher disease type 3C
    • Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
    • Gaucher-like disease
    • cardiovascular Gaucher disease
Mus musculus (house mouse)
DOID:0112250
  • Gaucher's disease type IIIC
  • Aliases:
    • GD3C
    • Gaucher disease type 3C
    • Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
    • Gaucher-like disease
    • cardiovascular Gaucher disease
Caenorhabditis elegans
DOID:0112251
  • Ghosal hematodiaphyseal syndrome
  • Aliases:
    • Ghosal hematodiaphyseal dysplasia
    • Ghosal syndrome
    • diaphyseal dysplasia-anemia syndrome
Homo sapiens (human)
DOID:0112252
  • glutathione synthetase deficiency of erythrocytes
  • Aliases:
    • glutathione synthetase deficiency without 5-oxoprolinuria
Mus musculus (house mouse)
DOID:0112254
  • hepatic venoocclusive disease with immunodeficiency
  • Aliases:
    • VODI
    • hepatic veno-occlusive disease-immunodeficiency syndrome
Mus musculus (house mouse)
DOID:0112258
  • N-acetylglutamate synthase deficiency
  • Aliases:
    • N-acetyl glutamate synthetase deficiency
    • N-acetylglutamate synthetase deficiency
    • NAG synthetase deficiency
    • NAGS deficiency
    • hyperammonemia due to N-acetylglutamate synthase deficiency
Saccharomyces cerevisiae S288C
DOID:0112259
  • Leydig cell hypoplasia
  • Aliases:
    • 46,XY DSD due to LH resistance or LHB deficiency
    • 46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency
    • 46,XY disorder of sex development due to LH resistance or LHB deficiency
    • 46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency
Homo sapiens (human)
DOID:0112259
  • Leydig cell hypoplasia
  • Aliases:
    • 46,XY DSD due to LH resistance or LHB deficiency
    • 46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency
    • 46,XY disorder of sex development due to LH resistance or LHB deficiency
    • 46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency
Mus musculus (house mouse)
DOID:0112259
  • Leydig cell hypoplasia
  • Aliases:
    • 46,XY DSD due to LH resistance or LHB deficiency
    • 46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency
    • 46,XY disorder of sex development due to LH resistance or LHB deficiency
    • 46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency
Rattus norvegicus (Norway rat)
DOID:0112262
  • leucine-sensitive hypoglycemia of infancy
  • Aliases:
    • LIH
    • leucine-induced hypoglycemia
Saccharomyces cerevisiae S288C
DOID:0112262
  • leucine-sensitive hypoglycemia of infancy
  • Aliases:
    • LIH
    • leucine-induced hypoglycemia
Mus musculus (house mouse)
DOID:0112262
  • leucine-sensitive hypoglycemia of infancy
  • Aliases:
    • LIH
    • leucine-induced hypoglycemia
Rattus norvegicus (Norway rat)
DOID:0112262
  • leucine-sensitive hypoglycemia of infancy
  • Aliases:
    • LIH
    • leucine-induced hypoglycemia
Homo sapiens (human)
DOID:0112263
  • hypoinsulinemic hypoglycemia with hemihypertrophy
  • Aliases:
    • HIHGHH
    • hypoinsulinemic hypoglycemia and body hemihypertrophy
Mus musculus (house mouse)
DOID:0112263
  • hypoinsulinemic hypoglycemia with hemihypertrophy
  • Aliases:
    • HIHGHH
    • hypoinsulinemic hypoglycemia and body hemihypertrophy
Xenopus laevis (African clawed frog)
DOID:0112263
  • hypoinsulinemic hypoglycemia with hemihypertrophy
  • Aliases:
    • HIHGHH
    • hypoinsulinemic hypoglycemia and body hemihypertrophy
Rattus norvegicus (Norway rat)
DOID:0112263
  • hypoinsulinemic hypoglycemia with hemihypertrophy
  • Aliases:
    • HIHGHH
    • hypoinsulinemic hypoglycemia and body hemihypertrophy
Homo sapiens (human)
DOID:0112265
  • iminoglycinuria
Drosophila melanogaster (fruit fly)
DOID:0112266
  • nephrotic syndrome type 23
  • Aliases:
    • NPHS23
Drosophila melanogaster (fruit fly)
DOID:0112266
  • nephrotic syndrome type 23
  • Aliases:
    • NPHS23
Caenorhabditis elegans
DOID:0112266
  • nephrotic syndrome type 23
  • Aliases:
    • NPHS23
Mus musculus (house mouse)
DOID:0112266
  • nephrotic syndrome type 23
  • Aliases:
    • NPHS23
Homo sapiens (human)
DOID:0112266
  • nephrotic syndrome type 23
  • Aliases:
    • NPHS23
Rattus norvegicus (Norway rat)

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 v4.1.0

Last updated: December 9, 2024