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 8551 - 8575 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▲ Source
DOID:0070158
  • hereditary sensory neuropathy type 1E
  • Aliases:
    • HSN1E
    • hereditary sensory neuropathy type IE
Mus musculus (house mouse)
DOID:0111272
  • occipital horn syndrome
  • Aliases:
    • EDS IX
    • Ehlers-Danlos syndrome type 9
    • Ehlers-Danlos syndrome type IX
    • X-linked cutis laxa
Mus musculus (house mouse)
DOID:0060649
  • congenital hereditary endothelial dystrophy of cornea
  • Aliases:
    • CHED
Mus musculus (house mouse)
DOID:0110544
  • autosomal dominant nonsyndromic deafness 12
  • Aliases:
    • DFNA12
    • DFNA8
    • autosomal dominant deafness 12
    • autosomal dominant deafness 8
Mus musculus (house mouse)
DOID:0050565
  • autosomal recessive nonsyndromic deafness
Mus musculus (house mouse)
DOID:0060591
  • WHIM syndrome
  • Aliases:
    • WHIMS
    • warts, hypogammaglobulinemia, infections, and myelokathexis
    • warts-hypogammaglobulinemia-infections-myelokathexis syndrome
Mus musculus (house mouse)
DOID:13628
  • favism
Mus musculus (house mouse)
DOID:2908
  • Treacher Collins syndrome
  • Aliases:
    • Franceschetti syndrome
    • mandibulofacial dysostosis
Mus musculus (house mouse)
DOID:0080537
  • hypermanganesemia with dystonia 2
Mus musculus (house mouse)
DOID:0110334
  • osteogenesis imperfecta type 1
  • Aliases:
    • OI1
    • osteogenesis imperfecta type I
Mus musculus (house mouse)
DOID:0111592
  • plasminogen deficiency type I
  • Aliases:
    • hypoplasminogenemia
Mus musculus (house mouse)
DOID:1240
  • leukemia
Mus musculus (house mouse)
DOID:0050439
  • Usher syndrome
Mus musculus (house mouse)
DOID:0050730
  • coenzyme Q10 deficiency disease
  • Aliases:
    • COENZYME Q10 DEFICIENCY, PRIMARY
Mus musculus (house mouse)
DOID:0080871
  • primary ovarian insufficiency 14
Mus musculus (house mouse)
DOID:0080042
  • autosomal recessive spinocerebellar ataxia 18
  • Aliases:
    • SCAR18
Mus musculus (house mouse)
DOID:14550
  • root resorption
Mus musculus (house mouse)
DOID:11206
  • opioid abuse
Mus musculus (house mouse)
DOID:0050974
  • spinocerebellar ataxia type 25
Mus musculus (house mouse)
DOID:0110297
  • autosomal recessive limb-girdle muscular dystrophy type 2K
  • Aliases:
    • LGMD2K
    • MDDGC1
    • limb-girdle muscular dystrophy-intellectual disability syndrome
    • muscular dystrophy limb-girdle type 2K
    • muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1
Mus musculus (house mouse)
DOID:0070400
  • hypomyelinating leukodystrophy 19
  • Aliases:
    • HLD19
Mus musculus (house mouse)
DOID:0111738
  • X-linked deafness 7
  • Aliases:
    • DFNX7
    • X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome
Mus musculus (house mouse)
DOID:0110479
  • autosomal recessive nonsyndromic deafness 21
  • Aliases:
    • DFNB21
    • autosomal recessive deafness 21
Mus musculus (house mouse)
DOID:0070356
  • visual impairment and progressive phthisis bulbi
Mus musculus (house mouse)
DOID:0111545
  • familial male-limited precocious puberty
  • Aliases:
    • FMPP
    • familial gonadotropin-independent male-limited sexual precocity
    • male-limited precocious puberty
    • testotoxicosis
Mus musculus (house mouse)

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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