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 2901 - 2925 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source ▲
DOID:0070343
  • CSF1R-related brain malformation and osteopetrosis
  • Aliases:
    • osteoporosis and infantile neuroaxonal dystrophy
Homo sapiens (human)
DOID:0070343
  • CSF1R-related brain malformation and osteopetrosis
  • Aliases:
    • osteoporosis and infantile neuroaxonal dystrophy
Danio rerio (zebrafish)
DOID:0070343
  • CSF1R-related brain malformation and osteopetrosis
  • Aliases:
    • osteoporosis and infantile neuroaxonal dystrophy
Caenorhabditis elegans
DOID:0070343
  • CSF1R-related brain malformation and osteopetrosis
  • Aliases:
    • osteoporosis and infantile neuroaxonal dystrophy
Mus musculus (house mouse)
DOID:0070344
  • ocular tuberculosis
Rattus norvegicus (Norway rat)
DOID:0070344
  • ocular tuberculosis
Mus musculus (house mouse)
DOID:0070344
  • ocular tuberculosis
Homo sapiens (human)
DOID:0070345
  • vertebral anomalies and variable endocrine and T-cell dysfunction
  • Aliases:
    • heterozygotes for TBX2 variants
Homo sapiens (human)
DOID:0070346
  • neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies
Mus musculus (house mouse)
DOID:0070346
  • neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies
Homo sapiens (human)
DOID:0070347
  • encephalopathy due to defective mitochondrial and peroxisomal fission 1
Rattus norvegicus (Norway rat)
DOID:0070347
  • encephalopathy due to defective mitochondrial and peroxisomal fission 1
Homo sapiens (human)
DOID:0070347
  • encephalopathy due to defective mitochondrial and peroxisomal fission 1
Mus musculus (house mouse)
DOID:0070351
  • spinal muscular atrophy with lower extremity predominant 1
  • Aliases:
    • spinal muscular atrophy with lower extremity predominance 1
Rattus norvegicus (Norway rat)
DOID:0070351
  • spinal muscular atrophy with lower extremity predominant 1
  • Aliases:
    • spinal muscular atrophy with lower extremity predominance 1
Mus musculus (house mouse)
DOID:0070351
  • spinal muscular atrophy with lower extremity predominant 1
  • Aliases:
    • spinal muscular atrophy with lower extremity predominance 1
Homo sapiens (human)
DOID:0070352
  • stress-induced childhood-onset neurodegeneration with variable ataxia and seizures
  • Aliases:
    • CONDSIAS
Caenorhabditis elegans
DOID:0070352
  • stress-induced childhood-onset neurodegeneration with variable ataxia and seizures
  • Aliases:
    • CONDSIAS
Drosophila melanogaster (fruit fly)
DOID:0070352
  • stress-induced childhood-onset neurodegeneration with variable ataxia and seizures
  • Aliases:
    • CONDSIAS
Rattus norvegicus (Norway rat)
DOID:0070352
  • stress-induced childhood-onset neurodegeneration with variable ataxia and seizures
  • Aliases:
    • CONDSIAS
Homo sapiens (human)
DOID:0070352
  • stress-induced childhood-onset neurodegeneration with variable ataxia and seizures
  • Aliases:
    • CONDSIAS
Mus musculus (house mouse)
DOID:0070352
  • stress-induced childhood-onset neurodegeneration with variable ataxia and seizures
  • Aliases:
    • CONDSIAS
Xenopus tropicalis (tropical clawed frog)
DOID:0070352
  • stress-induced childhood-onset neurodegeneration with variable ataxia and seizures
  • Aliases:
    • CONDSIAS
Danio rerio (zebrafish)
DOID:0070353
  • cataract 47
  • Aliases:
    • CTRCT47
Saccharomyces cerevisiae S288C
DOID:0070354
  • cataract 48
  • Aliases:
    • CTRCT48
Homo sapiens (human)

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Last updated: December 9, 2024