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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 7501 - 7525 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▲ Source
DOID:2216
  • factor V deficiency
  • Aliases:
    • Hereditary hypoproaccelerinaemia
    • Labile factor deficiency
    • Proaccelerin deficiency
    • deficiency, labile
Homo sapiens (human)
DOID:0090128
  • Carvajal syndrome
  • Aliases:
    • DCWHK
    • dilated cardiomyopathy with woolly hair and keratoderma
    • palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair
Homo sapiens (human)
DOID:0110612
  • primary ciliary dyskinesia 10
  • Aliases:
    • CILD10
    • primary ciliary dyskinesia 10 with or without situs inversus
Homo sapiens (human)
DOID:13544
  • low tension glaucoma
  • Aliases:
    • Normal tension glaucoma
Homo sapiens (human)
DOID:2388
  • renal artery disease
  • Aliases:
    • renal vascular disease
    • vascular disorder of kidney
Homo sapiens (human)
DOID:0050581
  • brachydactyly
Homo sapiens (human)
DOID:0081175
  • short stature, hearing loss, retinitis pigmentosa, and distinctive facies
Homo sapiens (human)
DOID:0080339
  • familial erythrocytosis 4
  • Aliases:
    • ECYT4
Homo sapiens (human)
DOID:13269
  • hereditary coproporphyria
  • Aliases:
    • Coproporphyrinogen oxidase deficiency
    • hereditary coproporphyria porphyria
Homo sapiens (human)
DOID:0060019
  • coronin-1A deficiency
Homo sapiens (human)
DOID:0111641
  • autosomal recessive nonsyndromic deafness 94
  • Aliases:
    • DFNB94
    • autosomal recessive deafness 94
Homo sapiens (human)
DOID:0110142
  • Bartter disease type 1
  • Aliases:
    • BARTS1
    • Bartter syndrome type 1
    • Bartter syndrome type 1 antenatal
    • hyperprostaglandin E syndrome 1
    • hypokalemic alkalosis with hypercalciuria 1 antenatal
Homo sapiens (human)
DOID:0110770
  • hereditary spastic paraplegia 17
  • Aliases:
    • SPG17
    • Silver spastic paraplegia syndrome
    • Silver syndrome
    • autosomal dominant spastic paraplegia 17
    • autosomal dominant spastic paraplegia type 17
    • dHMN5B
    • distal hereditary motor neuropathy type 5B
    • spastic paraplegia with amyotrophy of hands and feet
    • spastic paraplegia-amyotrophy of hands and feet
Homo sapiens (human)
DOID:2218
  • blood platelet disease
  • Aliases:
    • Thrombocytopathy
    • platelet disorder
Homo sapiens (human)
DOID:0112219
  • developmental and epileptic encephalopathy 84
  • Aliases:
    • DEE84
    • Jamuar syndrome
    • early infantile epileptic encephalopathy 84
Homo sapiens (human)
DOID:9955
  • hypoplastic left heart syndrome
Homo sapiens (human)
DOID:4251
  • conjunctival disease
Homo sapiens (human)
DOID:0081002
  • Cowden syndrome 6
Homo sapiens (human)
DOID:0060786
  • hypomyelinating leukodystrophy
  • Aliases:
    • HLD
Homo sapiens (human)
DOID:0080591
  • Klippel-Feil syndrome 3
Homo sapiens (human)
DOID:0090052
  • dystonia 24
Homo sapiens (human)
DOID:8411
  • kidney angiomyolipoma
  • Aliases:
    • Angiomyolipoma of kidney
    • renal Angiomyolipoma
Homo sapiens (human)
DOID:4752
  • multiple system atrophy
  • Aliases:
    • Shy-Drager syndrome
Homo sapiens (human)
DOID:0080893
  • Bainbridge-Ropers syndrome
  • Aliases:
    • ASXL3-related disorder
Homo sapiens (human)
DOID:14550
  • root resorption
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