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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 10226 - 10250 of 15957 in total
Disease ID Disease Name Gene Symbol ▲ Gene ID Organism Source
DOID:0070332
  • multiple mitochondrial dysfunctions syndrome 6
Mus musculus (house mouse)
DOID:5813
  • purine nucleoside phosphorylase deficiency
  • Aliases:
    • PNP deficiency
    • Purine-Nucleoside Phosphorylase deficiency
    • deficiency of inosine phosphorylase
Mus musculus (house mouse)
DOID:0050729
  • Chanarin-Dorfman syndrome
  • Aliases:
    • neutral lipid storage disease
Rattus norvegicus (Norway rat)
DOID:0060158
  • acquired metabolic disease
Rattus norvegicus (Norway rat)
DOID:0050729
  • Chanarin-Dorfman syndrome
  • Aliases:
    • neutral lipid storage disease
Mus musculus (house mouse)
DOID:0111265
  • Boucher-Neuhauser syndrome
  • Aliases:
    • ataxia-hypogonadism-choroidal dystrophy syndrome
Mus musculus (house mouse)
DOID:0111271
  • Oliver-McFarlane syndrome
  • Aliases:
    • OMCS
    • eyelashes long mental retardation
    • long eyelashes-intellectual disability syndrome
    • trichomegaly-retina pigmentary degeneration-dwarfism syndrome
Mus musculus (house mouse)
DOID:1930
  • Laurence-Moon syndrome
  • Aliases:
    • LNMS
Mus musculus (house mouse)
DOID:0110790
  • hereditary spastic paraplegia 39
  • Aliases:
    • NTE-related motor neuron disorder
    • NTEMND
    • SPG39
    • autosomal recessive spastic paraplegia 39
    • autosomal recessive spastic paraplegia type 39
    • spastic paraplegia due to NTE mutation
    • spastic paraplegia due to neuropathy target esterase mutation
Mus musculus (house mouse)
DOID:0050974
  • spinocerebellar ataxia type 25
Mus musculus (house mouse)
DOID:0111467
  • combined oxidative phosphorylation deficiency 13
  • Aliases:
    • COXPD13
Mus musculus (house mouse)
DOID:0110521
  • autosomal recessive nonsyndromic deafness 70
  • Aliases:
    • DFNB70
    • autosomal recessive deafness 70
Mus musculus (house mouse)
DOID:0080762
  • autosomal recessive limb-girdle muscular dystrophy type 2Z
  • Aliases:
    • limb-girdle muscular dystrophy 21
Mus musculus (house mouse)
DOID:0080762
  • autosomal recessive limb-girdle muscular dystrophy type 2Z
  • Aliases:
    • limb-girdle muscular dystrophy 21
Rattus norvegicus (Norway rat)
DOID:0070067
  • White-Sutton syndrome
  • Aliases:
    • MRD37
    • WHSUS
    • autosomal dominant mental retardation 37
Mus musculus (house mouse)
DOID:0070067
  • White-Sutton syndrome
  • Aliases:
    • MRD37
    • WHSUS
    • autosomal dominant mental retardation 37
Rattus norvegicus (Norway rat)
DOID:0111236
  • congenital muscular dystrophy-dystroglycanopathy type A3
  • Aliases:
    • MDDGA3
    • Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related
    • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A3
Rattus norvegicus (Norway rat)
DOID:0110292
  • autosomal recessive limb-girdle muscular dystrophy type 2O
  • Aliases:
    • LGMD2O
    • MDDGC3
    • muscular dystrophy-dystroglycanopathy (limb-girdle) type C3
    • muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related
Rattus norvegicus (Norway rat)
DOID:0112378
  • muscular dystrophy-dystroglycanopathy type B3
  • Aliases:
    • MDDGB3
    • congenital muscular dystrophy POMGNT1-related
Rattus norvegicus (Norway rat)
DOID:0112378
  • muscular dystrophy-dystroglycanopathy type B3
  • Aliases:
    • MDDGB3
    • congenital muscular dystrophy POMGNT1-related
Mus musculus (house mouse)
DOID:0111236
  • congenital muscular dystrophy-dystroglycanopathy type A3
  • Aliases:
    • MDDGA3
    • Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related
    • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A3
Mus musculus (house mouse)
DOID:0110292
  • autosomal recessive limb-girdle muscular dystrophy type 2O
  • Aliases:
    • LGMD2O
    • MDDGC3
    • muscular dystrophy-dystroglycanopathy (limb-girdle) type C3
    • muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related
Mus musculus (house mouse)
DOID:0112382
  • muscular dystrophy-dystroglycanopathy type C8
  • Aliases:
    • LGMDR24
    • MDDGC2
    • autosomal recessive limb-girdle muscular dystrophy 24
    • muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8
    • muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT2-related
Mus musculus (house mouse)
DOID:0111231
  • congenital muscular dystrophy-dystroglycanopathy type A8
  • Aliases:
    • MDDGA8
    • Walker-Warburg syndrome or muscle-eye-brain disease GTDC2-related
    • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A8
Mus musculus (house mouse)
DOID:0112382
  • muscular dystrophy-dystroglycanopathy type C8
  • Aliases:
    • LGMDR24
    • MDDGC2
    • autosomal recessive limb-girdle muscular dystrophy 24
    • muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8
    • muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT2-related
Rattus norvegicus (Norway rat)
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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