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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 2951 - 2975 of 4649 in total
Disease ID ▲ Disease Name Gene Symbol Gene ID Organism Source
DOID:0112217
  • developmental and epileptic encephalopathy 81
  • Aliases:
    • DEE81
    • early infantile epileptic encephalopathy 81
Homo sapiens (human)
DOID:0112218
  • developmental and epileptic encephalopathy 83
  • Aliases:
    • DEE83
    • early infantile epileptic encephalopathy 83
Homo sapiens (human)
DOID:0112219
  • developmental and epileptic encephalopathy 84
  • Aliases:
    • DEE84
    • Jamuar syndrome
    • early infantile epileptic encephalopathy 84
Homo sapiens (human)
DOID:0112221
  • developmental and epileptic encephalopathy 87
  • Aliases:
    • DEE87
    • early infantile epileptic encephalopathy 87
Homo sapiens (human)
DOID:0112222
  • developmental and epileptic encephalopathy 88
  • Aliases:
    • DEE88
    • early infantile epileptic encephalopathy 88
Homo sapiens (human)
DOID:0112223
  • developmental and epileptic encephalopathy 89
  • Aliases:
    • DEE89
    • early infantile epileptic encephalopathy 89
Homo sapiens (human)
DOID:0112224
  • chondrodysplasia with joint dislocations gPAPP type
  • Aliases:
    • gPAPP deficiency
Homo sapiens (human)
DOID:0112227
  • tubulinopathy
Homo sapiens (human)
DOID:0112228
  • lissencephaly 9 with complex brainstem malformation
  • Aliases:
    • LIS9
    • posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome
Homo sapiens (human)
DOID:0112230
  • lissencephaly 5
  • Aliases:
    • LIS5
Homo sapiens (human)
DOID:0112231
  • lissencephaly 7 with cerebellar hypoplasia
  • Aliases:
    • LIS7
Homo sapiens (human)
DOID:0112232
  • lissencephaly 3
  • Aliases:
    • LIS3
Homo sapiens (human)
DOID:0112233
  • lissencephaly 8
  • Aliases:
    • LIS8
Homo sapiens (human)
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:0112242
  • congenital symmetric circumferential skin creases 1
  • Aliases:
    • CSCSC1
Homo sapiens (human)
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: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
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
Homo sapiens (human)
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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

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Last updated: December 9, 2024