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 11476 - 11500 of 15957 in total
Disease ID Disease Name Gene Symbol ▲ Gene ID Organism Source
DOID:0112185
  • thyroid dyshormonogenesis 1
  • Aliases:
    • TDH1
    • genetic defect in thyroid hormonogenesis 1
    • iodide accumulation, transport, or trapping defect
Rattus norvegicus (Norway rat)
DOID:0110661
  • congenital myasthenic syndrome 20
  • Aliases:
    • CMS20
    • congenital myasthenic syndrome 20 presynaptic
Mus musculus (house mouse)
DOID:0111199
  • autosomal dominant distal hereditary motor neuronopathy 7
  • Aliases:
    • DHMN7A
    • DHMNVPy
    • HMN VIIA
    • HMN7A
    • Harper-Young myopath
    • dHMN7
    • distal hereditary motor neuronopathy type 7
    • distal hereditary motor neuropathy type VIIA
    • distal spinal muscular atrophy with vocal cord paralysis
    • distal spinal muscular atrophy with vocal cord paralysis type 7A
Mus musculus (house mouse)
DOID:0111199
  • autosomal dominant distal hereditary motor neuronopathy 7
  • Aliases:
    • DHMN7A
    • DHMNVPy
    • HMN VIIA
    • HMN7A
    • Harper-Young myopath
    • dHMN7
    • distal hereditary motor neuronopathy type 7
    • distal hereditary motor neuropathy type VIIA
    • distal spinal muscular atrophy with vocal cord paralysis
    • distal spinal muscular atrophy with vocal cord paralysis type 7A
Rattus norvegicus (Norway rat)
DOID:0110661
  • congenital myasthenic syndrome 20
  • Aliases:
    • CMS20
    • congenital myasthenic syndrome 20 presynaptic
Rattus norvegicus (Norway rat)
DOID:0081212
  • autosomal recessive intellectual developmental disorder 48
Mus musculus (house mouse)
DOID:0081212
  • autosomal recessive intellectual developmental disorder 48
Rattus norvegicus (Norway rat)
DOID:1060
  • Hartnup disease
  • Aliases:
    • Neutral 1 amino acid transport defect
    • deficiency of tryptophan oxygenase
    • neutral amino acid transport defect
Rattus norvegicus (Norway rat)
DOID:1060
  • Hartnup disease
  • Aliases:
    • Neutral 1 amino acid transport defect
    • deficiency of tryptophan oxygenase
    • neutral amino acid transport defect
Mus musculus (house mouse)
DOID:0070489
  • classic dopamine transporter deficiency syndrome
  • Aliases:
    • PKDYS1
    • classic DTDS
    • infantile parkinsonism-dystonia 1
Mus musculus (house mouse)
DOID:11569
  • neurocirculatory asthenia
  • Aliases:
    • Cardiovascular malfunction arising from mental factors
    • Cardiovascular neurosis
    • Da Costa's syndrome
    • Krishaber's disease
Mus musculus (house mouse)
DOID:0070489
  • classic dopamine transporter deficiency syndrome
  • Aliases:
    • PKDYS1
    • classic DTDS
    • infantile parkinsonism-dystonia 1
Rattus norvegicus (Norway rat)
DOID:7475
  • diverticulitis
Mus musculus (house mouse)
DOID:0060131
  • alexithymia
Rattus norvegicus (Norway rat)
DOID:7475
  • diverticulitis
Rattus norvegicus (Norway rat)
DOID:0060698
  • hyperekplexia 3
  • Aliases:
    • HKPX3
Rattus norvegicus (Norway rat)
DOID:0050800
  • cerebral creatine deficiency syndrome 1
  • Aliases:
    • CEREBRAL CREATINE DEFICIENCY SYNDROME 1
    • SLC6A8 deficiency
    • creatine transporter deficiency
Mus musculus (house mouse)
DOID:0050800
  • cerebral creatine deficiency syndrome 1
  • Aliases:
    • CEREBRAL CREATINE DEFICIENCY SYNDROME 1
    • SLC6A8 deficiency
    • creatine transporter deficiency
Rattus norvegicus (Norway rat)
DOID:9268
  • glycine encephalopathy
  • Aliases:
    • Non-ketotic hyperglycinemia
    • nonketotic hyperglycinemia
Rattus norvegicus (Norway rat)
DOID:0110374
  • retinitis pigmentosa 68
  • Aliases:
    • RP68
Mus musculus (house mouse)
DOID:0111666
  • proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome
  • Aliases:
    • EPV
    • Fowler syndrome
    • Fowler vasculopathy
    • PVHH
    • cerebral proliferative glomeruloid vasculopathy
    • encephaloclastic proliferative vasculopathy
    • hydranencephaly, Fowler type
    • hydrocephaly/hydranencephaly due to cerebral vasculopathy
    • proliferative vasculopathy and hydranencephaly/hydrocephaly
Mus musculus (house mouse)
DOID:0111666
  • proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome
  • Aliases:
    • EPV
    • Fowler syndrome
    • Fowler vasculopathy
    • PVHH
    • cerebral proliferative glomeruloid vasculopathy
    • encephaloclastic proliferative vasculopathy
    • hydranencephaly, Fowler type
    • hydrocephaly/hydranencephaly due to cerebral vasculopathy
    • proliferative vasculopathy and hydranencephaly/hydrocephaly
Rattus norvegicus (Norway rat)
DOID:1107
  • esophageal carcinoma
  • Aliases:
    • cancer of esophagus
    • cancer of oesophagus
    • carcinoma of esophagus
    • carcinoma of oesophagus
Mus musculus (house mouse)
DOID:4896
  • bile duct adenocarcinoma
Mus musculus (house mouse)
DOID:0050872
  • large cell neuroendocrine carcinoma
Mus musculus (house mouse)

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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