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 12251 - 12275 of 15957 in total
Disease ID Disease Name Gene Symbol ▼ Gene ID Organism Source
DOID:5614
  • eye disease
Homo sapiens (human)
DOID:1123
  • spondyloarthropathy
  • Aliases:
    • spondarthropathy
    • spondylarthrosis
Homo sapiens (human)
DOID:0081020
  • congenital fibrosis of the extraocular muscles 5
Homo sapiens (human)
DOID:0080730
  • Ehlers-Danlos syndrome cardiac valvular type
Homo sapiens (human)
DOID:0080728
  • Ehlers-Danlos syndrome arthrochalasia type 2
Homo sapiens (human)
DOID:0080727
  • Ehlers-Danlos syndrome arthrochalasia type 1
Homo sapiens (human)
DOID:0110334
  • osteogenesis imperfecta type 1
  • Aliases:
    • OI1
    • osteogenesis imperfecta type I
Homo sapiens (human)
DOID:4257
  • Caffey disease
  • Aliases:
    • cortical congenital hyperostosis
    • infantile cortical hyperostosis
Homo sapiens (human)
DOID:3507
  • dermatofibrosarcoma protuberans
Homo sapiens (human)
DOID:4154
  • dentinogenesis imperfecta
Homo sapiens (human)
DOID:0110340
  • osteogenesis imperfecta type 4
  • Aliases:
    • OI4
    • osteogenesis imperfecta type IV
    • osteogenesis imperfecta with normal sclera
Homo sapiens (human)
DOID:0110341
  • osteogenesis imperfecta type 2
  • Aliases:
    • OI2
    • Vrolik type of osteogenesis imperfecta
    • osteogenesis imperfecta type II
    • perinatal lethal osteogenesis imperfecta congenita
Homo sapiens (human)
DOID:0110339
  • osteogenesis imperfecta type 3
  • Aliases:
    • OI3
    • osteogenesis imperfecta type III
    • progressively deforming osteogenesis imperfecta with normal sclera
Homo sapiens (human)
DOID:0060680
  • pigment dispersion syndrome
  • Aliases:
    • glaucoma-related pigment dispersion syndrome
    • pigment-dispersion type glaucoma
Homo sapiens (human)
DOID:0070337
  • epithelial recurrent erosion dystrophy
  • Aliases:
    • COL17A1
    • ERED
Homo sapiens (human)
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
Homo sapiens (human)
DOID:3209
  • junctional epidermolysis bullosa
  • Aliases:
    • congenital junctional epidermolysis bullosa
Homo sapiens (human)
DOID:699
  • mitochondrial myopathy
  • Aliases:
    • mitochondrial cytopathy
Homo sapiens (human)
DOID:0050663
  • Bethlem myopathy
  • Aliases:
    • benign congenital muscular dystrophy
Homo sapiens (human)
DOID:0080673
  • fibrochondrogenesis 2
Homo sapiens (human)
DOID:0110545
  • autosomal dominant nonsyndromic deafness 13
  • Aliases:
    • DFNA13
    • autosomal dominant deafness 13
Homo sapiens (human)
DOID:0080026
  • otospondylomegaepiphyseal dysplasia, autosomal recessive
  • Aliases:
    • CHONDRODYSTROPHY WITH SENSORINEURAL DEAFNESS
    • NANCE-INSLEY SYNDROME
    • NANCE-SWEENEY CHONDRODYSPLASIA
    • OSMEDB
Homo sapiens (human)
DOID:0110509
  • autosomal recessive nonsyndromic deafness 53
  • Aliases:
    • DFNB53
    • autosomal recessive deafness 53
Homo sapiens (human)
DOID:0080677
  • otospondylomegaepiphyseal dysplasia, autosomal dominant
Homo sapiens (human)
DOID:0080672
  • fibrochondrogenesis 1
Homo sapiens (human)

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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