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 176 - 200 of 15957 in total
Disease ID Disease Name Gene Symbol ▼ Gene ID Organism Source
DOID:12306
  • vitiligo
Caenorhabditis elegans
DOID:13399
  • color blindness
  • Aliases:
    • BLINDNESS COLOR
    • Colour blindness
    • Colour vision deficiency
Caenorhabditis elegans
DOID:11211
  • buphthalmos
  • Aliases:
    • primary congenital glaucoma 3A
    • simple buphthalmos
Caenorhabditis elegans
DOID:0050632
  • oculocutaneous albinism
Caenorhabditis elegans
DOID:8465
  • retinoschisis
Caenorhabditis elegans
DOID:0070097
  • oculocutaneous albinism type III
  • Aliases:
    • OCA3
    • Rufous Oculocutaneous Albinism
Caenorhabditis elegans
DOID:0050778
  • Meckel syndrome
  • Aliases:
    • Meckel-Gruber syndrome
Xenopus laevis (African clawed frog)
DOID:0112380
  • muscular dystrophy-dystroglycanopathy type B2
  • Aliases:
    • MDDGB2
    • congenital muscular dystrophy POMT2-related
Drosophila melanogaster (fruit fly)
DOID:0111240
  • congenital muscular dystrophy-dystroglycanopathy type A2
  • Aliases:
    • MDDGA2
    • Walker-Warburg syndrome or muscle-eye-brain disease, POMT2-related
    • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A2
Drosophila melanogaster (fruit fly)
DOID:0110298
  • autosomal recessive limb-girdle muscular dystrophy type 2N
  • Aliases:
    • LGMD2N
    • muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2
    • muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related
Drosophila melanogaster (fruit fly)
DOID:0050860
  • colorectal adenoma
Xenopus laevis (African clawed frog)
DOID:0050638
  • transthyretin amyloidosis
  • Aliases:
    • ATTR amyloidosis
    • ATTRm amyloidosis
    • Amyloidosis, hereditary, transthyretin-related
    • Corino de Andrade's disease
    • Familial transthyretin amyloidosis
    • TTR amyloidosis
    • familial amyloid polyneuropathy
    • paramyloidosis
    • transthyretin-related hereditary amyloidosis
Xenopus laevis (African clawed frog)
DOID:9120
  • amyloidosis
  • Aliases:
    • amyloid disease
Xenopus laevis (African clawed frog)
DOID:0080219
  • dystransthyretinemic hyperthyroxinemia
Xenopus laevis (African clawed frog)
DOID:0070466
  • carpal tunnel syndrome 1
  • Aliases:
    • CTS1
Xenopus laevis (African clawed frog)
DOID:0060936
  • dystonia 28 childhood-onset
  • Aliases:
    • DYSTONIA 28, CHILDHOOD-ONSET
    • DYT28
Drosophila melanogaster (fruit fly)
DOID:0111729
  • familial episodic pain syndrome 1
  • Aliases:
    • FEPS1
Caenorhabditis elegans
DOID:0070355
  • overactive bladder syndrome
  • Aliases:
    • OAB
    • overactive bladder
    • urge syndrome
    • urgency-frequency syndrome
Caenorhabditis elegans
DOID:0060770
  • dextro-looped transposition of the great arteries
  • Aliases:
    • D-TGA
    • DTGA1
    • congenitally uncorrected transposition of the great arteries
    • congenitally uncorrected transposition of the great vessels
    • isolated ventriculoarterial discordance
    • ventriculoarterial discordance with atrioventricular concordance
Drosophila melanogaster (fruit fly)
DOID:0090005
  • Schwartz-Jampel syndrome 1
  • Aliases:
    • Aberfeld syndrome
    • Burton skeletal dysplasia
    • Burton syndrome
    • Catel-Hempel syndrome
    • Catel-Hempel type dysostosis enchondralis metaepiphysaria
    • Schwartz-Jampel syndrome type 1
    • Schwartz-Jampel-Aberfeld syndrome
    • myotonic chondrodystrophy
    • myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies
    • osteochondromuscular dystrophy
Drosophila melanogaster (fruit fly)
DOID:0090032
  • Silverman-Handmaker type dyssegmental dysplasia
Drosophila melanogaster (fruit fly)
DOID:0080059
  • autosomal recessive spinocerebellar ataxia 7
  • Aliases:
    • SCAR7
Danio rerio (zebrafish)
DOID:0110726
  • neuronal ceroid lipofuscinosis 2
  • Aliases:
    • CLN2
    • neuronal ceroid lipofuscinosis 2 variable age at onset
Danio rerio (zebrafish)
DOID:0050884
  • triosephosphate isomerase deficiency
  • Aliases:
    • Triose phosphate-isomerase deficiency
Danio rerio (zebrafish)
DOID:2978
  • carbohydrate metabolic disorder
  • Aliases:
    • disorder of carbohydrate transport and metabolism
    • inborn carbohydrate metabolism disorder
    • inborn errors of carbohydrate metabolism
Danio rerio (zebrafish)

About Release Notes Help Feedback

Click here to visit the beta site.


International Collaboration

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


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.1.0

Last updated: December 9, 2024