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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 1451 - 1475 of 7942 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source ▲
DOID:0112219
  • developmental and epileptic encephalopathy 84
  • Aliases:
    • DEE84
    • Jamuar syndrome
    • early infantile epileptic encephalopathy 84
Homo sapiens (human)
DOID:0112222
  • developmental and epileptic encephalopathy 88
  • Aliases:
    • DEE88
    • early infantile epileptic encephalopathy 88
Homo sapiens (human)
DOID:0112222
  • developmental and epileptic encephalopathy 88
  • Aliases:
    • DEE88
    • early infantile epileptic encephalopathy 88
Mus musculus (house mouse)
DOID:0112223
  • developmental and epileptic encephalopathy 89
  • Aliases:
    • DEE89
    • early infantile epileptic encephalopathy 89
Homo sapiens (human)
DOID:0112233
  • lissencephaly 8
  • Aliases:
    • LIS8
Xenopus tropicalis (tropical clawed frog)
DOID:0112233
  • lissencephaly 8
  • Aliases:
    • LIS8
Mus musculus (house mouse)
DOID:0112233
  • lissencephaly 8
  • Aliases:
    • LIS8
Danio rerio (zebrafish)
DOID:0112233
  • lissencephaly 8
  • Aliases:
    • LIS8
Rattus norvegicus (Norway rat)
DOID:0112233
  • lissencephaly 8
  • Aliases:
    • LIS8
Drosophila melanogaster (fruit fly)
DOID:0112233
  • lissencephaly 8
  • Aliases:
    • LIS8
Xenopus laevis (African clawed frog)
DOID:0112233
  • lissencephaly 8
  • Aliases:
    • LIS8
Homo sapiens (human)
DOID:0112237
  • lissencephaly 1
  • Aliases:
    • LIS1
    • PAFAH1B1-related lissencephaly
Homo sapiens (human)
DOID:0112248
  • 17-beta hydroxysteroid dehydrogenase 3 deficiency
  • Aliases:
    • 17-KSR deficiency
    • 17-beta-hydroxysteroid dehydrogenase 3 deficiency
    • 17-ketoreductase deficiency
    • 17-ketosteroidreductase deficiency
    • 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
    • male pseudohermaphroditism with gynecomastia
    • neutral 17-beta-hydroxysteroid oxidoreductase deficiency
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: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:0112251
  • Ghosal hematodiaphyseal syndrome
  • Aliases:
    • Ghosal hematodiaphyseal dysplasia
    • Ghosal syndrome
    • diaphyseal dysplasia-anemia syndrome
Homo sapiens (human)
DOID:0112263
  • hypoinsulinemic hypoglycemia with hemihypertrophy
  • Aliases:
    • HIHGHH
    • hypoinsulinemic hypoglycemia and body hemihypertrophy
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
Rattus norvegicus (Norway rat)
DOID:0112275
  • developmental and epileptic encephalopathy 93
  • Aliases:
    • DEE93
    • IECEE3
    • infantile or early childhood epileptic encephalopathy 3
Homo sapiens (human)
DOID:0112275
  • developmental and epileptic encephalopathy 93
  • Aliases:
    • DEE93
    • IECEE3
    • infantile or early childhood epileptic encephalopathy 3
Xenopus tropicalis (tropical clawed frog)
DOID:0112282
  • spondyloepiphyseal dysplasia Kimberley type
  • Aliases:
    • SEDK
Homo sapiens (human)
DOID:0112298
  • spondylometaphyseal dysplasia Sedaghatian type
  • Aliases:
    • SMDS
    • Sedaghatian chondrodysplasia
    • congenital lethal metaphyseal chondrodysplasia
Saccharomyces cerevisiae S288C
DOID:0112300
  • spondylometaphyseal dysplasia with cone-rod dystrophy
  • Aliases:
    • SMD-CRD
    • SMDCRD
    • spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
Homo sapiens (human)
DOID:0112303
  • spondylometaphyseal dysplasia with corneal dystrophy
  • Aliases:
    • SMDCD
Homo sapiens (human)
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Supported by JST NBDC Grant Number JPMJND2204

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

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Last updated: August 19, 2024