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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 11376 - 11400 of 15957 in total
Disease ID Disease Name Gene Symbol ▲ Gene ID Organism Source
DOID:0110868
  • congenital stationary night blindness 1D
  • Aliases:
    • CSNB1D
    • congenital stationary night blindness 1D autosomal recessive
Mus musculus (house mouse)
DOID:0110868
  • congenital stationary night blindness 1D
  • Aliases:
    • CSNB1D
    • congenital stationary night blindness 1D autosomal recessive
Rattus norvegicus (Norway rat)
DOID:0110063
  • amelogenesis imperfecta hypomaturation type 2A5
  • Aliases:
    • AI2A5
    • amelogenesis imperfecta hypomaturation type IIA5
    • amelogenesis imperfecta type IIA5
Mus musculus (house mouse)
DOID:0070450
  • mitochondrial DNA depletion syndrome 19
Mus musculus (house mouse)
DOID:0070329
  • mitochondrial DNA depletion syndrome
  • Aliases:
    • mtDNA depletion syndrome
Mus musculus (house mouse)
DOID:4137
  • common bile duct disease
Mus musculus (house mouse)
DOID:0070342
  • adult-onset type II citrullinemia
  • Aliases:
    • citrin deficiency
Mus musculus (house mouse)
DOID:0070341
  • neonatal-onset type II citrullinemia
  • Aliases:
    • neonatal-onset type 2 citrullinemia
Mus musculus (house mouse)
DOID:0080440
  • developmental and epileptic encephalopathy 3
  • Aliases:
    • early infantile epileptic encephalopathy 3
Mus musculus (house mouse)
DOID:0080335
  • mitochondrial DNA depletion syndrome 12b
Mus musculus (house mouse)
DOID:0111517
  • autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2
  • Aliases:
    • PEOA2
    • autosomal dominant progressive external ophthalmoplegia 2
Mus musculus (house mouse)
DOID:0080130
  • mitochondrial DNA depletion syndrome 12a
Mus musculus (house mouse)
DOID:0111517
  • autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2
  • Aliases:
    • PEOA2
    • autosomal dominant progressive external ophthalmoplegia 2
Rattus norvegicus (Norway rat)
DOID:699
  • mitochondrial myopathy
  • Aliases:
    • mitochondrial cytopathy
Rattus norvegicus (Norway rat)
DOID:0080335
  • mitochondrial DNA depletion syndrome 12b
Rattus norvegicus (Norway rat)
DOID:0080130
  • mitochondrial DNA depletion syndrome 12a
Rattus norvegicus (Norway rat)
DOID:12558
  • chronic progressive external ophthalmoplegia
  • Aliases:
    • progressive external ophthalmoplegia
Rattus norvegicus (Norway rat)
DOID:2300
  • spondylolysis
Rattus norvegicus (Norway rat)
DOID:0050648
  • atelosteogenesis
Rattus norvegicus (Norway rat)
DOID:0070300
  • multiple epiphyseal dysplasia 4
  • Aliases:
    • EDM4
    • MED4
    • Polyepiphyseal dysplasia type 4
    • multiple epiphyseal dysplasia with bilateral patellae
    • multiple epiphyseal dysplasia with clubfoot
    • rMED
Rattus norvegicus (Norway rat)
DOID:0080055
  • achondrogenesis type IB
  • Aliases:
    • achondrogenesis Fraccaro type
Rattus norvegicus (Norway rat)
DOID:0050581
  • brachydactyly
Rattus norvegicus (Norway rat)
DOID:14687
  • diastrophic dysplasia
Rattus norvegicus (Norway rat)
DOID:2300
  • spondylolysis
Mus musculus (house mouse)
DOID:0070300
  • multiple epiphyseal dysplasia 4
  • Aliases:
    • EDM4
    • MED4
    • Polyepiphyseal dysplasia type 4
    • multiple epiphyseal dysplasia with bilateral patellae
    • multiple epiphyseal dysplasia with clubfoot
    • rMED
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: December 9, 2024