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 3076 - 3100 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source
DOID:0112281
  • spondyloepiphyseal dysplasia Stanescu type
  • Aliases:
    • SED Stanescu type
    • SEDSTN
Rattus norvegicus (Norway rat)
DOID:0111130
  • focal segmental glomerulosclerosis 5
  • Aliases:
    • FSGS5
Mus musculus (house mouse)
DOID:0111064
  • autosomal recessive distal hereditary motor neuronopathy 1
  • Aliases:
    • DSMA1
    • SIANRF
    • SMARD1
    • autosomal recessive distal spinal muscular atrophy 1
    • autosomal recessive spinal muscular atrophy with respiratory distress
    • dHMN6
    • diaphragmatic spinal muscular atrophy
    • distal hereditary motor neuropathy type 6
    • distal spinal muscular atrophy 1
    • distal-HMN type 6
    • severe infantile axonal neuropathy with respiratory failure type 1
    • spinal muscular atrophy with respiratory distress type 1
Homo sapiens (human)
DOID:0080108
  • myoglobinuria
Saccharomyces cerevisiae S288C
DOID:2560
  • morphine dependence
Caenorhabditis elegans
DOID:0112252
  • glutathione synthetase deficiency of erythrocytes
  • Aliases:
    • glutathione synthetase deficiency without 5-oxoprolinuria
Mus musculus (house mouse)
DOID:10983
  • Alport syndrome
  • Aliases:
    • Hereditary Nephritis
Drosophila melanogaster (fruit fly)
DOID:0112184
  • thyroid dyshormonogenesis 5
  • Aliases:
    • TDH5
    • genetic defect in thyroid hormonogenesis 5
Homo sapiens (human)
DOID:8469
  • influenza
  • Aliases:
    • Influenza with other manifestations
    • flu
    • influenza with non-respiratory manifestation
Mus musculus (house mouse)
DOID:0060244
  • specific language impairment
Homo sapiens (human)
DOID:0110644
  • long QT syndrome 1
  • Aliases:
    • LQT1
    • ventricular fibrillation with prolonged QT interval
Mus musculus (house mouse)
DOID:0111037
  • glycine N-methyltransferase deficiency
  • Aliases:
    • GNMT deficiency
    • hypermethioninemia due to GNMT deficiency
    • hypermethioninemia due to glycine N-methyltransferase deficiency
Rattus norvegicus (Norway rat)
DOID:0050547
  • familial medullary thyroid carcinoma
  • Aliases:
    • THYROID CARCINOMA, FAMILIAL MEDULLARY
Rattus norvegicus (Norway rat)
DOID:0060209
  • amyotrophic lateral sclerosis type 18
  • Aliases:
    • ALS18
    • amyotrophic lateral sclerosis 18
Mus musculus (house mouse)
DOID:0111225
  • centronuclear myopathy X-linked
  • Aliases:
    • CNMX
    • MTM1
    • X-linked myotubular myopathy
    • XLCNM
    • XLMTM
    • myotubular myopathy 1
Homo sapiens (human)
DOID:0110111
  • atrial heart septal defect 6
  • Aliases:
    • ASD6
    • atrial septal defect 6
Danio rerio (zebrafish)
DOID:0070379
  • developmental and epileptic encephalopathy 6B
  • Aliases:
    • DEE6B
Mus musculus (house mouse)
DOID:0111155
  • autosomal recessive spinocerebellar ataxia 21
  • Aliases:
    • SCAR21
    • acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
    • autosomal recessive spinocerebellar ataxia 21 with hepatopathy
Saccharomyces cerevisiae S288C
DOID:0112243
  • congenital symmetric circumferential skin creases 2
  • Aliases:
    • CSCSC2
Mus musculus (house mouse)
DOID:0081317
  • multiple synostoses syndrome 1
Homo sapiens (human)
DOID:10126
  • keratoconus
  • Aliases:
    • conical cornea
Drosophila melanogaster (fruit fly)
DOID:0070411
  • autosomal recessive spinocerebellar ataxia 30
  • Aliases:
    • SCAR30
Mus musculus (house mouse)
DOID:0111745
  • cerebellar ataxia type 43
  • Aliases:
    • SCA43
Rattus norvegicus (Norway rat)
DOID:0110035
  • Alzheimer's disease 2
  • Aliases:
    • AD2
    • Alzheimer disease 2, late onset
    • Alzheimer disease associated with APOE4
    • Alzheimer disease-2
Homo sapiens (human)
DOID:0070505
  • mitochondrial complex IV deficiency nuclear type 20
  • Aliases:
    • MC4DN20
Rattus norvegicus (Norway rat)

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Last updated: December 9, 2024