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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 8576 - 8600 of 15957 in total
Disease ID ▲ Disease Name Gene Symbol Gene ID Organism Source
DOID:0112233
  • lissencephaly 8
  • Aliases:
    • LIS8
Xenopus tropicalis (tropical clawed frog)
DOID:0112233
  • lissencephaly 8
  • Aliases:
    • LIS8
Xenopus laevis (African clawed frog)
DOID:0112233
  • lissencephaly 8
  • Aliases:
    • LIS8
Drosophila melanogaster (fruit fly)
DOID:0112233
  • lissencephaly 8
  • Aliases:
    • LIS8
Mus musculus (house mouse)
DOID:0112233
  • lissencephaly 8
  • Aliases:
    • LIS8
Danio rerio (zebrafish)
DOID:0112234
  • microlissencephaly
Mus musculus (house mouse)
DOID:0112234
  • microlissencephaly
Homo sapiens (human)
DOID:0112236
  • lissencephaly 6
  • Aliases:
    • LIS6
Homo sapiens (human)
DOID:0112237
  • lissencephaly 1
  • Aliases:
    • LIS1
    • PAFAH1B1-related lissencephaly
Homo sapiens (human)
DOID:0112238
  • X-linked lissencephaly 2
  • Aliases:
    • X-linked lissencephaly with abnormal genitalia
    • X-linked lissencephaly with ambiguous genitalia
    • X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome
    • XLAG
    • XLAG (X-linked lissencephaly with abnormal genitalia) syndrome
    • XLIS2
Homo sapiens (human)
DOID:0112240
  • Leber congenital amaurosis with early-onset deafness
  • Aliases:
    • LCAEOD
Homo sapiens (human)
DOID:0112240
  • Leber congenital amaurosis with early-onset deafness
  • Aliases:
    • LCAEOD
Mus musculus (house mouse)
DOID:0112242
  • congenital symmetric circumferential skin creases 1
  • Aliases:
    • CSCSC1
Homo sapiens (human)
DOID:0112242
  • congenital symmetric circumferential skin creases 1
  • Aliases:
    • CSCSC1
Mus musculus (house mouse)
DOID:0112243
  • congenital symmetric circumferential skin creases 2
  • Aliases:
    • CSCSC2
Mus musculus (house mouse)
DOID:0112243
  • congenital symmetric circumferential skin creases 2
  • Aliases:
    • CSCSC2
Homo sapiens (human)
DOID:0112245
  • focal segmental glomerulosclerosis 3
  • Aliases:
    • FSGS3
Homo sapiens (human)
DOID:0112245
  • focal segmental glomerulosclerosis 3
  • Aliases:
    • FSGS3
Mus musculus (house mouse)
DOID:0112247
  • congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
  • Aliases:
    • CDK13-Related CHDFIDD
    • CDK13-Related Disorder
    • CHDFIDD
Mus musculus (house mouse)
DOID:0112247
  • congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
  • Aliases:
    • CDK13-Related CHDFIDD
    • CDK13-Related Disorder
    • CHDFIDD
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:0112249
  • GAPO syndrome
  • Aliases:
    • growth delay-alopecia-pseudoanodontia-optic atrophy syndrome
Rattus norvegicus (Norway rat)
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)
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Last updated: December 9, 2024