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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 October 9, 2024
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 11301 - 11325 of 15957 in total
Disease ID Disease Name Gene Symbol ▼ Gene ID Organism Source
DOID:0110340
  • osteogenesis imperfecta type 4
  • Aliases:
    • OI4
    • osteogenesis imperfecta type IV
    • osteogenesis imperfecta with normal sclera
Mus musculus (house mouse)
DOID:0110341
  • osteogenesis imperfecta type 2
  • Aliases:
    • OI2
    • Vrolik type of osteogenesis imperfecta
    • osteogenesis imperfecta type II
    • perinatal lethal osteogenesis imperfecta congenita
Mus musculus (house mouse)
DOID:0060680
  • pigment dispersion syndrome
  • Aliases:
    • glaucoma-related pigment dispersion syndrome
    • pigment-dispersion type glaucoma
Mus musculus (house mouse)
DOID:0070337
  • epithelial recurrent erosion dystrophy
  • Aliases:
    • COL17A1
    • ERED
Mus musculus (house mouse)
DOID:0060738
  • junctional epidermolysis bullosa non-Herlitz type
  • Aliases:
    • GABEB
    • JEB-nH gen
    • JEN-nH
    • generalized atrophic benign epidermolysis bullosa
    • generalized junctional epidermolysis bullosa, non-Herlitz type
    • junctional epidermolysis bullosa generalisata mitis
    • junctional epidermolysis bullosa, Disentis type
Mus musculus (house mouse)
DOID:3209
  • junctional epidermolysis bullosa
  • Aliases:
    • congenital junctional epidermolysis bullosa
Mus musculus (house mouse)
DOID:699
  • mitochondrial myopathy
  • Aliases:
    • mitochondrial cytopathy
Mus musculus (house mouse)
DOID:0110673
  • congenital myasthenic syndrome 19
  • Aliases:
    • CMS19
Mus musculus (house mouse)
DOID:0050663
  • Bethlem myopathy
  • Aliases:
    • benign congenital muscular dystrophy
Mus musculus (house mouse)
DOID:0080673
  • fibrochondrogenesis 2
Mus musculus (house mouse)
DOID:0080026
  • otospondylomegaepiphyseal dysplasia, autosomal recessive
  • Aliases:
    • CHONDRODYSTROPHY WITH SENSORINEURAL DEAFNESS
    • NANCE-INSLEY SYNDROME
    • NANCE-SWEENEY CHONDRODYSPLASIA
    • OSMEDB
Mus musculus (house mouse)
DOID:0110509
  • autosomal recessive nonsyndromic deafness 53
  • Aliases:
    • DFNB53
    • autosomal recessive deafness 53
Mus musculus (house mouse)
DOID:0080677
  • otospondylomegaepiphyseal dysplasia, autosomal dominant
Mus musculus (house mouse)
DOID:0110545
  • autosomal dominant nonsyndromic deafness 13
  • Aliases:
    • DFNA13
    • autosomal dominant deafness 13
Mus musculus (house mouse)
DOID:674
  • cleft palate
  • Aliases:
    • Palatoschisis
Mus musculus (house mouse)
DOID:0080672
  • fibrochondrogenesis 1
Rattus norvegicus (Norway rat)
DOID:0111510
  • Marshall syndrome
  • Aliases:
    • MRSHS
    • deafness, myopia, cataract, saddle nose-Marshall type
Rattus norvegicus (Norway rat)
DOID:0050564
  • autosomal dominant nonsyndromic deafness
  • Aliases:
    • autosomal dominant deafness
Rattus norvegicus (Norway rat)
DOID:0080675
  • Stickler syndrome 2
Rattus norvegicus (Norway rat)
DOID:0080046
  • Stickler syndrome
Rattus norvegicus (Norway rat)
DOID:0080675
  • Stickler syndrome 2
Mus musculus (house mouse)
DOID:0080672
  • fibrochondrogenesis 1
Mus musculus (house mouse)
DOID:0111510
  • Marshall syndrome
  • Aliases:
    • MRSHS
    • deafness, myopia, cataract, saddle nose-Marshall type
Mus musculus (house mouse)
DOID:0080046
  • Stickler syndrome
Mus musculus (house mouse)
DOID:0070264
  • congenital disorder of glycosylation type IIl
  • Aliases:
    • CDG IIl
    • CDG syndrome type IIL
    • CDG2L
    • CDGIIdl
    • COG6-CGD
    • Congenital disorder of glycosylation type 2l
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: December 9, 2024