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 8601 - 8625 of 15957 in total
Disease ID ▲ Disease Name Gene Symbol Gene ID Organism Source
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
Homo sapiens (human)
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)
DOID:0112268
  • nephrotic syndrome type 22
  • Aliases:
    • NPHS22
Rattus norvegicus (Norway rat)
DOID:0112271
  • spermatogenic failure 49
  • Aliases:
    • SPGF98
Homo sapiens (human)

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Last updated: December 9, 2024