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 8501 - 8525 of 15957 in total
Disease ID ▲ Disease Name Gene Symbol Gene ID Organism Source
DOID:0112198
  • spondyloepimetaphyseal dysplasia with joint laxity type 1
  • Aliases:
    • SEMDJL1
    • spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
Rattus norvegicus (Norway rat)
DOID:0112198
  • spondyloepimetaphyseal dysplasia with joint laxity type 1
  • Aliases:
    • SEMDJL1
    • spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
Homo sapiens (human)
DOID:0112198
  • spondyloepimetaphyseal dysplasia with joint laxity type 1
  • Aliases:
    • SEMDJL1
    • spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
Caenorhabditis elegans
DOID:0112199
  • spondyloepimetaphyseal dysplasia with joint laxity type 2
  • Aliases:
    • SEMD-MD
    • SEMDJL2
    • spondyloepimetaphyseal dysplasia with joint laxicity, Hall type
    • spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type
    • spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type
Homo sapiens (human)
DOID:0112199
  • spondyloepimetaphyseal dysplasia with joint laxity type 2
  • Aliases:
    • SEMD-MD
    • SEMDJL2
    • spondyloepimetaphyseal dysplasia with joint laxicity, Hall type
    • spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type
    • spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type
Mus musculus (house mouse)
DOID:0112201
  • osteogenesis imperfecta type 21
  • Aliases:
    • OI21
    • osteogenesis imperfecta type XXI
Caenorhabditis elegans
DOID:0112202
  • developmental and epileptic encephalopathy
Homo sapiens (human)
DOID:0112202
  • developmental and epileptic encephalopathy
Caenorhabditis elegans
DOID:0112202
  • developmental and epileptic encephalopathy
Saccharomyces cerevisiae S288C
DOID:0112202
  • developmental and epileptic encephalopathy
Drosophila melanogaster (fruit fly)
DOID:0112202
  • developmental and epileptic encephalopathy
Rattus norvegicus (Norway rat)
DOID:0112202
  • developmental and epileptic encephalopathy
Mus musculus (house mouse)
DOID:0112204
  • developmental and epileptic encephalopathy 68
  • Aliases:
    • DEE68
    • early infantile epileptic encephalopathy 68
Homo sapiens (human)
DOID:0112204
  • developmental and epileptic encephalopathy 68
  • Aliases:
    • DEE68
    • early infantile epileptic encephalopathy 68
Rattus norvegicus (Norway rat)
DOID:0112204
  • developmental and epileptic encephalopathy 68
  • Aliases:
    • DEE68
    • early infantile epileptic encephalopathy 68
Mus musculus (house mouse)
DOID:0112205
  • developmental and epileptic encephalopathy 69
  • Aliases:
    • DEE69
    • early infantile epileptic encephalopathy 69
Drosophila melanogaster (fruit fly)
DOID:0112205
  • developmental and epileptic encephalopathy 69
  • Aliases:
    • DEE69
    • early infantile epileptic encephalopathy 69
Homo sapiens (human)
DOID:0112206
  • developmental and epileptic encephalopathy 70
  • Aliases:
    • DEE70
    • early infantile epileptic encephalopathy 70
Mus musculus (house mouse)
DOID:0112207
  • developmental and epileptic encephalopathy 71
  • Aliases:
    • DEE71
    • early infantile epileptic encephalopathy 71
    • glutaminase deficiency with neonatal epileptic encephalopathy
Rattus norvegicus (Norway rat)
DOID:0112207
  • developmental and epileptic encephalopathy 71
  • Aliases:
    • DEE71
    • early infantile epileptic encephalopathy 71
    • glutaminase deficiency with neonatal epileptic encephalopathy
Homo sapiens (human)
DOID:0112207
  • developmental and epileptic encephalopathy 71
  • Aliases:
    • DEE71
    • early infantile epileptic encephalopathy 71
    • glutaminase deficiency with neonatal epileptic encephalopathy
Mus musculus (house mouse)
DOID:0112209
  • developmental and epileptic encephalopathy 73
  • Aliases:
    • DEE73
    • early infantile epileptic encephalopathy 73
Caenorhabditis elegans
DOID:0112209
  • developmental and epileptic encephalopathy 73
  • Aliases:
    • DEE73
    • early infantile epileptic encephalopathy 73
Mus musculus (house mouse)
DOID:0112209
  • developmental and epileptic encephalopathy 73
  • Aliases:
    • DEE73
    • early infantile epileptic encephalopathy 73
Rattus norvegicus (Norway rat)
DOID:0112209
  • developmental and epileptic encephalopathy 73
  • Aliases:
    • DEE73
    • early infantile epileptic encephalopathy 73
Homo sapiens (human)

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Last updated: December 9, 2024