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 1701 - 1725 of 4621 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▼
DOID:10488
  • imperforate anus
  • Aliases:
    • Congenital atresia of anus
    • Congenital or infantile occlusion of anus
    • anal atresia
Homo sapiens (human)
DOID:0080480
  • peroxisome biogenesis disorder 5A
  • Aliases:
    • peroxisome biogenesis disorder 5A (Zellweger)
Homo sapiens (human)
DOID:0111405
  • Fraser syndrome 1
  • Aliases:
    • FRASRS1
Homo sapiens (human)
DOID:3744
  • cervical squamous cell carcinoma
  • Aliases:
    • squamous cell carcinoma of cervix
    • squamous cell carcinoma of the Cervix Uteri
Homo sapiens (human)
DOID:0110272
  • cataract 40
  • Aliases:
    • CTRCT40
    • cataract 40 X-linked
    • cataract 40 with or without microcornea
Homo sapiens (human)
DOID:0111056
  • platelet-type bleeding disorder 3
  • Aliases:
    • BDPLT3
    • PT-VWD
    • platelet type-von Willebrand disease
    • pseudo-von Willebrand disease
    • von Willebrand disease platelet-type
Homo sapiens (human)
DOID:13976
  • peptic esophagitis
  • Aliases:
    • Peptic reflux disease
    • Reflux oesophagitis
    • reflux esophagitis
Homo sapiens (human)
DOID:4608
  • common bile duct neoplasm
  • Aliases:
    • neoplasm of common bile duct
Homo sapiens (human)
DOID:1307
  • dementia
Homo sapiens (human)
DOID:0111078
  • tibial muscular dystrophy
  • Aliases:
    • Finnish tibial muscular dystrophy
    • TMD
    • Tardive tibial muscular dystrophy
    • Udd myopathy
    • Udd type distal myopathy
    • distal titinopathy
Homo sapiens (human)
DOID:0111451
  • progressive myoclonus epilepsy 8
  • Aliases:
    • EMP8
    • PME type 8
    • progressive myoclonic epilepsy due to CERS1 deficiency
    • progressive myoclonus epilepsy type 8
Homo sapiens (human)
DOID:0080005
  • bone remodeling disease
Homo sapiens (human)
DOID:3458
  • breast adenocarcinoma
  • Aliases:
    • Mammary adenocarcinoma
Homo sapiens (human)
DOID:0080422
  • Dravet syndrome
  • Aliases:
    • DEE6
    • DEE6A
    • developmental and epileptic encephalopathy 6
    • developmental and epileptic encephalopathy 6A
    • early infantile epileptic encephalopathy 6
    • severe myoclonic epilepsy of infancy
Homo sapiens (human)
DOID:0110430
  • dilated cardiomyopathy 1G
  • Aliases:
    • CMD1G
Homo sapiens (human)
DOID:0111392
  • mucopolysaccharidosis type IVB
  • Aliases:
    • MPS IVB
    • MPS4B
    • Morquio disease type B
    • Morquio syndrome B
    • beta-D-galactosidase deficiency
    • mucopolysaccharidosis type IVB (Morquio)
Homo sapiens (human)
DOID:0050891
  • adrenal cortical adenoma
  • Aliases:
    • adrenocortical adenoma
Homo sapiens (human)
DOID:9675
  • pulmonary emphysema
Homo sapiens (human)
DOID:13757
  • excessive tearing
  • Aliases:
    • Epiphora
    • Excessive tear production
    • Watering eye
Homo sapiens (human)
DOID:0110846
  • xeroderma pigmentosum group E
  • Aliases:
    • XP group E
    • XP5
    • XPE
    • xeroderma pigmentosum V
Homo sapiens (human)
DOID:0050573
  • 2-hydroxyglutaric aciduria
Homo sapiens (human)
DOID:4188
  • echolalia
Homo sapiens (human)
DOID:0060255
  • rippling muscle disease 2
  • Aliases:
    • autosomal dominant limb-girdle muscular dystrophy type 1C
Homo sapiens (human)
DOID:0110207
  • Charcot-Marie-Tooth disease X-linked dominant 6
  • Aliases:
    • CMT6X
    • CMTX6
    • Charcot-Marie-Tooth neuropathy X-linked dominant 6
    • X-linked Charcot-Marie-Tooth disease type 6
Homo sapiens (human)
DOID:2640
  • struma ovarii
Homo sapiens (human)

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Last updated: August 19, 2024