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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 January 28, 2025
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 4301 - 4325 of 5716 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▲ Source
DOID:0081427
  • autosomal recessive distal hereditary motor neuronopathy 8
  • Aliases:
    • SORDD
    • sorbitol dehydrogenase deficiency with peripheral neuropathy
Homo sapiens (human)
DOID:0070597
  • X-linked spermatogenic failure 6
  • Aliases:
    • SPGFX6
Homo sapiens (human)
DOID:9883
  • Becker muscular dystrophy
  • Aliases:
    • Benign pseudohypertrophic muscular dystrophy
    • benign congenital myopathy
Homo sapiens (human)
DOID:0050749
  • peripheral T-cell lymphoma
Homo sapiens (human)
DOID:0112050
  • non-syndromic X-linked intellectual disability 63
  • Aliases:
    • ACSL4-related intellectual disability
    • MRX63
    • MRX68
    • X-linked mental retardation 63
    • X-linked mental retardation 68
Homo sapiens (human)
DOID:8505
  • dermatitis herpetiformis
  • Aliases:
    • Dermatosis herpetiformis
    • Duhring's disease
Homo sapiens (human)
DOID:0050475
  • Weill-Marchesani syndrome
  • Aliases:
    • GEMSS syndrome
    • Marchesani-Weill Syndrome
    • Mesodermal Dysmorphodystrophy, Congenital
    • Spherophakia Brachymorphia Syndrome
    • congenital mesodermal dystrophy
Homo sapiens (human)
DOID:9562
  • primary ciliary dyskinesia
  • Aliases:
    • ciliary motility disorder
    • immotile ciliary syndrome
Homo sapiens (human)
DOID:326
  • ischemia
Homo sapiens (human)
DOID:3611
  • acute retinal necrosis syndrome
  • Aliases:
    • acute retinal necrosis
Homo sapiens (human)
DOID:0081242
  • autoimmune interstitial lung, joint, and kidney disease
  • Aliases:
    • Autoimmune interstitial lung disease-arthritis syndrome
    • COPA syndrome
Homo sapiens (human)
DOID:0111415
  • trichohepatoenteric syndrome 1
  • Aliases:
    • THES1
Homo sapiens (human)
DOID:2355
  • anemia
  • Aliases:
    • anaemia
Homo sapiens (human)
DOID:4928
  • intrahepatic cholangiocarcinoma
  • Aliases:
    • Intrahepatic bile duct carcinoma
    • peripheral Cholangiocarcinoma
Homo sapiens (human)
DOID:0060879
  • primary hypomagnesemia
  • Aliases:
    • HOMG
    • primary familial hypomagnesemia
Homo sapiens (human)
DOID:0111542
  • familial expansile osteolysis
  • Aliases:
    • FEO
    • McCabe disease
    • hereditary expansile polyostotic osteolytic dysplasia
Homo sapiens (human)
DOID:0110250
  • cataract 16 multiple types
  • Aliases:
    • CTRCT16
Homo sapiens (human)
DOID:4372
  • intracranial embolism
  • Aliases:
    • Cerebral embolism with cerebral infarction
    • cerebral embolism
Homo sapiens (human)
DOID:0110344
  • osteogenesis imperfecta type 5
  • Aliases:
    • OI5
    • osteogenesis imperfecta type V
Mus musculus (house mouse)
DOID:13359
  • Ehlers-Danlos syndrome
  • Aliases:
    • Cutis hyperelastica
    • elastic skin
Mus musculus (house mouse)
DOID:0111725
  • geleophysic dysplasia 1
  • Aliases:
    • GPHYSD1
Mus musculus (house mouse)
DOID:13544
  • low tension glaucoma
  • Aliases:
    • Normal tension glaucoma
Mus musculus (house mouse)
DOID:0050570
  • congenital disorder of glycosylation type I
Mus musculus (house mouse)
DOID:0110933
  • nemaline myopathy 11
  • Aliases:
    • NEM11
    • nemaline myopathy 11, autosomal recessive
Mus musculus (house mouse)
DOID:0060198
  • amyotrophic lateral sclerosis type 6
  • Aliases:
    • ALS6
    • amyotrophic lateral sclerosis 6, with or without frontotemporal dementia
    • autosomal recessive amyotrophic lateral sclerosis 6
Mus musculus (house mouse)
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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: March 31, 2025