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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 January 28, 2025
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 2176 - 2200 of 5716 in total
Disease ID ▲ Disease Name Gene Symbol Gene ID Organism Source
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
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:0090139
  • cortisone reductase deficiency
  • Aliases:
    • CORTRD
Homo sapiens (human)
DOID:0090140
  • cortisone reductase deficiency 2
  • Aliases:
    • CORTRD2
Homo sapiens (human)
DOID:0090140
  • cortisone reductase deficiency 2
  • Aliases:
    • CORTRD2
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
Homo sapiens (human)
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: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
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)
DOID:0090145
  • dopamine beta-hydroxylase deficiency
  • Aliases:
    • congenital dopamine beta-hydroxylase deficiency
    • noradrenaline deficiency
    • norepinephrine deficiency
Caenorhabditis elegans
DOID:0090145
  • dopamine beta-hydroxylase deficiency
  • Aliases:
    • congenital dopamine beta-hydroxylase deficiency
    • noradrenaline deficiency
    • norepinephrine deficiency
Homo sapiens (human)
DOID:0090145
  • dopamine beta-hydroxylase deficiency
  • Aliases:
    • congenital dopamine beta-hydroxylase deficiency
    • noradrenaline deficiency
    • norepinephrine deficiency
Mus musculus (house mouse)
DOID:0110004
  • 3-methylglutaconic aciduria type 3
  • Aliases:
    • 3-methylglutaconic aciduria type III
    • Costeff optic atrophy syndrome
    • Costeff syndrome
    • Iraqi-Jewish optic atrophy plus
    • MGA3
    • autosomal recessive optic atrophy plus syndrome
    • autosomal recessive optic atrophy type 3
    • infantile optic atrophy with chorea and spastic paraplegia
Homo sapiens (human)
DOID:0110007
  • achromatopsia 2
  • Aliases:
    • ACHM2
    • RMCH2
    • rod monochromacy 2
    • rod monochromatism 2
Homo sapiens (human)
DOID:0110007
  • achromatopsia 2
  • Aliases:
    • ACHM2
    • RMCH2
    • rod monochromacy 2
    • rod monochromatism 2
Mus musculus (house mouse)
DOID:0110009
  • achromatopsia 7
  • Aliases:
    • ACHM7
Homo sapiens (human)
DOID:0110009
  • achromatopsia 7
  • Aliases:
    • ACHM7
Mus musculus (house mouse)
DOID:0110011
  • advanced sleep phase syndrome 1
  • Aliases:
    • FASPS1
    • familial advanced sleep phase syndrome 1
Mus musculus (house mouse)
DOID:0110011
  • advanced sleep phase syndrome 1
  • Aliases:
    • FASPS1
    • familial advanced sleep phase syndrome 1
Homo sapiens (human)
DOID:0110013
  • advanced sleep phase syndrome 3
  • Aliases:
    • FASPS3
    • familial advanced sleep phase syndrome 3
Homo sapiens (human)
DOID:0110014
  • age related macular degeneration 1
  • Aliases:
    • ARMD1
    • age related maculopathy 1
Mus musculus (house mouse)
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: April 6, 2026