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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 5326 - 5350 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source ▲
DOID:0090131
  • complex cortical dysplasia with other brain malformations
  • Aliases:
    • CDCBM
Mus musculus (house mouse)
DOID:0090131
  • complex cortical dysplasia with other brain malformations
  • Aliases:
    • CDCBM
Homo sapiens (human)
DOID:0090132
  • complex cortical dysplasia with other brain malformations 7
  • Aliases:
    • CDCBM7
    • polymicrogyria due to TUBB2B mutation
Mus musculus (house mouse)
DOID:0090132
  • complex cortical dysplasia with other brain malformations 7
  • Aliases:
    • CDCBM7
    • polymicrogyria due to TUBB2B mutation
Homo sapiens (human)
DOID:0090134
  • complex cortical dysplasia with other brain malformations 3
  • Aliases:
    • CDCBM3
Homo sapiens (human)
DOID:0090134
  • complex cortical dysplasia with other brain malformations 3
  • Aliases:
    • CDCBM3
Mus musculus (house mouse)
DOID:0090135
  • complex cortical dysplasia with other brain malformations 5
  • Aliases:
    • CDCBM5
Mus musculus (house mouse)
DOID:0090135
  • complex cortical dysplasia with other brain malformations 5
  • Aliases:
    • CDCBM5
Homo sapiens (human)
DOID:0090136
  • complex cortical dysplasia with other brain malformations 6
  • Aliases:
    • CDCBM56
Mus musculus (house mouse)
DOID:0090136
  • complex cortical dysplasia with other brain malformations 6
  • Aliases:
    • CDCBM56
Homo sapiens (human)
DOID:0090137
  • complex cortical dysplasia with other brain malformations 1
  • Aliases:
    • CDCBM1
    • cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
Homo sapiens (human)
DOID:0090137
  • complex cortical dysplasia with other brain malformations 1
  • Aliases:
    • CDCBM1
    • cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
Mus musculus (house mouse)
DOID:0090139
  • cortisone reductase deficiency
  • Aliases:
    • CORTRD
Rattus norvegicus (Norway rat)
DOID:0090139
  • cortisone reductase deficiency
  • Aliases:
    • CORTRD
Mus musculus (house mouse)
DOID:0090139
  • cortisone reductase deficiency
  • Aliases:
    • CORTRD
Homo sapiens (human)
DOID:0090140
  • cortisone reductase deficiency 2
  • Aliases:
    • CORTRD2
Rattus norvegicus (Norway rat)
DOID:0090140
  • cortisone reductase deficiency 2
  • Aliases:
    • CORTRD2
Mus musculus (house mouse)
DOID:0090140
  • cortisone reductase deficiency 2
  • Aliases:
    • CORTRD2
Homo sapiens (human)
DOID:0090141
  • cortisone reductase deficiency 1
  • Aliases:
    • CORTRD1
Mus musculus (house mouse)
DOID:0090141
  • cortisone reductase deficiency 1
  • Aliases:
    • CORTRD1
Homo sapiens (human)
DOID:0090142
  • cystathioninuria
  • Aliases:
    • cystathionase deficiency
    • cystathione gamma-lyase deficiency syndrome
    • gamma-cystathionase deficiency
Homo sapiens (human)
DOID:0090142
  • cystathioninuria
  • Aliases:
    • cystathionase deficiency
    • cystathione gamma-lyase deficiency syndrome
    • gamma-cystathionase deficiency
Mus musculus (house mouse)
DOID:0090143
  • brachyolmia-amelogenesis imperfecta syndrome
  • Aliases:
    • DASS
    • STHAG6
    • dental anomalies and short stature
    • platyspondyly with amelogenesis imperfecta
    • selective tooth agenesis 5
Mus musculus (house mouse)
DOID:0090143
  • brachyolmia-amelogenesis imperfecta syndrome
  • Aliases:
    • DASS
    • STHAG6
    • dental anomalies and short stature
    • platyspondyly with amelogenesis imperfecta
    • selective tooth agenesis 5
Homo sapiens (human)
DOID:0090144
  • Donnai-Barrow syndrome
  • Aliases:
    • DBS/FOAR syndrome
    • FOAR syndrome
    • Holmes-Schepens syndrome
    • diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria
    • diaphragmatic hernia-exomphalos-hypertelorism syndrome
    • diaphragmatic hernia-hypertelorism-myopia-deafness syndrome
    • facio-oculo-acoustico-renal syndrome
    • faciooculoacousticorenal syndrome
    • syndrome of ocular and facial anomalies, telecanthus and deafness
Mus musculus (house mouse)
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Last updated: December 9, 2024