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 2351 - 2375 of 4621 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▲
DOID:0090053
  • episodic kinesigenic dyskinesia 1
  • Aliases:
    • Paroxysmal kinesigenic choreoathetosis
Homo sapiens (human)
DOID:4306
  • radiculopathy
  • Aliases:
    • pinched nerve
Homo sapiens (human)
DOID:13353
  • diffuse interstitial keratitis
Homo sapiens (human)
DOID:4852
  • pleomorphic xanthoastrocytoma
  • Aliases:
    • Pleomorphic Xantho-astrocytoma
Homo sapiens (human)
DOID:13664
  • post-vaccinal encephalitis
  • Aliases:
    • Encephalitis following immunization procedures
    • Postvaccinal encephalomyelitis
Homo sapiens (human)
DOID:4329
  • Erdheim-Chester disease
Homo sapiens (human)
DOID:12139
  • dysthymic disorder
  • Aliases:
    • dysthymia
Homo sapiens (human)
DOID:0080329
  • cold-induced sweating syndrome 1
Homo sapiens (human)
DOID:2457
  • giant papillary conjunctivitis
Homo sapiens (human)
DOID:2021
  • placenta cancer
  • Aliases:
    • Placental tumors
    • malignant Placental tumor
    • malignant neoplasm of placenta
    • neoplasm of placenta
    • placental cancer
    • primary malignant neoplasm of placenta
Homo sapiens (human)
DOID:8499
  • night blindness
  • Aliases:
    • nyctalopia
Homo sapiens (human)
DOID:14067
  • Plasmodium falciparum malaria
  • Aliases:
    • Malaria fever, subtertian
    • falciparum malaria
    • malignant tertian fever
Homo sapiens (human)
DOID:0110644
  • long QT syndrome 1
  • Aliases:
    • LQT1
    • ventricular fibrillation with prolonged QT interval
Homo sapiens (human)
DOID:4734
  • calciphylaxis
Homo sapiens (human)
DOID:0060736
  • epidermolysis bullosa simplex Ogna type
  • Aliases:
    • EBS-O
    • EBS-Og
    • EBSOG
Homo sapiens (human)
DOID:0060867
  • macrocephaly-autism syndrome
  • Aliases:
    • macrocephaly-intellectual disability-autism syndrome
Homo sapiens (human)
DOID:4607
  • biliary tract cancer
  • Aliases:
    • malignant tumour of biliary tract
Homo sapiens (human)
DOID:0060198
  • amyotrophic lateral sclerosis type 6
  • Aliases:
    • ALS6
    • amyotrophic lateral sclerosis 6, with or without frontotemporal dementia
    • autosomal recessive amyotrophic lateral sclerosis 6
Homo sapiens (human)
DOID:0111933
  • phosphoglycerate kinase 1 deficiency
  • Aliases:
    • GSD due to phosphoglycerate kinase 1 deficiency
    • PGK1 deficiency
    • glycogen storage disease due to phosphoglycerate kinase 1 deficiency
    • glycogenosis due to phosphoglycerate kinase 1 deficiency
Homo sapiens (human)
DOID:0110505
  • autosomal recessive nonsyndromic deafness 48
  • Aliases:
    • DFNB48
    • autosomal recessive deafness 48
Homo sapiens (human)
DOID:0110589
  • autosomal dominant nonsyndromic deafness 68
  • Aliases:
    • DFNA68
    • autosomal dominant deafness 68
Homo sapiens (human)
DOID:0110006
  • 3-methylglutaconic aciduria type 4
  • Aliases:
    • 3-methylglutaconic aciduria type IV
    • MGA type IV
    • MGA4
    • MGCA4
Homo sapiens (human)
DOID:0110765
  • hereditary spastic paraplegia 12
  • Aliases:
    • SPG12
    • autosomal dominant spastic paraplegia 12
    • autosomal dominant spastic paraplegia type 12
Homo sapiens (human)
DOID:4440
  • seminoma
  • Aliases:
    • Seminoma, Pure
Homo sapiens (human)
DOID:11175
  • enophthalmos
Homo sapiens (human)

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Acknowledgements

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