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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 4601 - 4625 of 15957 in total
Disease ID Disease Name Gene Symbol ▼ Gene ID Organism Source
DOID:1440
  • Machado-Joseph disease
  • Aliases:
    • Azorean disease
    • MJD
    • SCA3
    • spinocerebellar ataxia 3
    • spinocerebellar ataxia type 3
Rattus norvegicus (Norway rat)
DOID:0070490
  • infantile parkinsonism-dystonia 2
  • Aliases:
    • Brain dopamine-serotonin vesicular transport disease
    • PKDYS2
Mus musculus (house mouse)
DOID:14175
  • von Hippel-Lindau disease
  • Aliases:
    • Hippel Lindau syndrome
    • von Hippel-Lindau syndrome
Rattus norvegicus (Norway rat)
DOID:14175
  • von Hippel-Lindau disease
  • Aliases:
    • Hippel Lindau syndrome
    • von Hippel-Lindau syndrome
Mus musculus (house mouse)
DOID:0110555
  • autosomal dominant nonsyndromic deafness 25
  • Aliases:
    • DFNA25
    • autosomal dominant deafness 25
Rattus norvegicus (Norway rat)
DOID:9784
  • trichinosis
  • Aliases:
    • Trichinella spiralis infection
Rattus norvegicus (Norway rat)
DOID:5463
  • cochlear disease
Rattus norvegicus (Norway rat)
DOID:9784
  • trichinosis
  • Aliases:
    • Trichinella spiralis infection
Mus musculus (house mouse)
DOID:0110555
  • autosomal dominant nonsyndromic deafness 25
  • Aliases:
    • DFNA25
    • autosomal dominant deafness 25
Mus musculus (house mouse)
DOID:5463
  • cochlear disease
Mus musculus (house mouse)
DOID:0050667
  • alcohol-related neurodevelopmental disorder
  • Aliases:
    • ARND
    • static encephalopathy
Rattus norvegicus (Norway rat)
DOID:0080453
  • developmental and epileptic encephalopathy 25
  • Aliases:
    • DEE25
    • developmental and epileptic encephalopathy 25, with amelogenesis imperfecta
    • early infantile epileptic encephalopathy 25
Rattus norvegicus (Norway rat)
DOID:0111668
  • Kohlschutter-Tonz syndrome
  • Aliases:
    • KTZS
    • Kohlschutter's syndrome
    • amelocerebrohypohidrotic syndrome
    • epilepsy and yellow teeth
    • epilepsy dementia amelogenesis imperfecta
    • epilepsy-dementia-amelogenesis imperfecta syndrome
Rattus norvegicus (Norway rat)
DOID:0111668
  • Kohlschutter-Tonz syndrome
  • Aliases:
    • KTZS
    • Kohlschutter's syndrome
    • amelocerebrohypohidrotic syndrome
    • epilepsy and yellow teeth
    • epilepsy dementia amelogenesis imperfecta
    • epilepsy-dementia-amelogenesis imperfecta syndrome
Mus musculus (house mouse)
DOID:0080453
  • developmental and epileptic encephalopathy 25
  • Aliases:
    • DEE25
    • developmental and epileptic encephalopathy 25, with amelogenesis imperfecta
    • early infantile epileptic encephalopathy 25
Mus musculus (house mouse)
DOID:0050667
  • alcohol-related neurodevelopmental disorder
  • Aliases:
    • ARND
    • static encephalopathy
Mus musculus (house mouse)
DOID:0090003
  • agenesis of the corpus callosum with peripheral neuropathy
  • Aliases:
    • Andermann syndrome
    • Charlevoix disease
    • corpus callosum agenesis-neuronopathy syndrome
Mus musculus (house mouse)
DOID:2477
  • motor peripheral neuropathy
  • Aliases:
    • HSMN
    • HSMN - Hereditary sensory and motor neuropathy
    • Hereditary motor and sensory neuropathy
    • Peripheral Motor Neuropathy
    • neuropathic muscular atrophy
Mus musculus (house mouse)
DOID:0111315
  • idiopathic generalized epilepsy 14
  • Aliases:
    • EIG14
Mus musculus (house mouse)
DOID:0080460
  • developmental and epileptic encephalopathy 34
  • Aliases:
    • DEE34
    • early infantile epileptic encephalopathy 34
Mus musculus (house mouse)
DOID:0111315
  • idiopathic generalized epilepsy 14
  • Aliases:
    • EIG14
Rattus norvegicus (Norway rat)
DOID:0080460
  • developmental and epileptic encephalopathy 34
  • Aliases:
    • DEE34
    • early infantile epileptic encephalopathy 34
Rattus norvegicus (Norway rat)
DOID:0112159
  • autosomal dominant nonsyndromic deafness 78
  • Aliases:
    • DFNA78
Mus musculus (house mouse)
DOID:0110142
  • Bartter disease type 1
  • Aliases:
    • BARTS1
    • Bartter syndrome type 1
    • Bartter syndrome type 1 antenatal
    • hyperprostaglandin E syndrome 1
    • hypokalemic alkalosis with hypercalciuria 1 antenatal
Mus musculus (house mouse)
DOID:11759
  • hypochromic anemia
  • Aliases:
    • ANEMIA HYPOCHROMIC
Rattus norvegicus (Norway rat)
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Last updated: December 9, 2024