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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 5701 - 5725 of 15957 in total
Disease ID Disease Name Gene Symbol ▼ Gene ID Organism Source
DOID:0111237
  • congenital muscular dystrophy-dystroglycanopathy type A1
  • Aliases:
    • MDDGA1
    • Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related
    • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A1
Rattus norvegicus (Norway rat)
DOID:0112374
  • muscular dystrophy-dystroglycanopathy
  • Aliases:
    • MDDG
Rattus norvegicus (Norway rat)
DOID:0112381
  • muscular dystrophy-dystroglycanopathy type C12
  • Aliases:
    • LGMD due to POMK deficiency
    • Limb-girdle muscular dystrophy due to POMK deficiency
    • MDDGC12
    • muscular dystrophy-dystroglycanopathy, limb-girdle, POMK-related
Mus musculus (house mouse)
DOID:0111235
  • congenital muscular dystrophy-dystroglycanopathy type A12
  • Aliases:
    • MDDGA12
    • Walker-Warburg syndrome or muscle-eye-brain disease POMK-related
    • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A12
Mus musculus (house mouse)
DOID:0112381
  • muscular dystrophy-dystroglycanopathy type C12
  • Aliases:
    • LGMD due to POMK deficiency
    • Limb-girdle muscular dystrophy due to POMK deficiency
    • MDDGC12
    • muscular dystrophy-dystroglycanopathy, limb-girdle, POMK-related
Rattus norvegicus (Norway rat)
DOID:0111235
  • congenital muscular dystrophy-dystroglycanopathy type A12
  • Aliases:
    • MDDGA12
    • Walker-Warburg syndrome or muscle-eye-brain disease POMK-related
    • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A12
Rattus norvegicus (Norway rat)
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
Rattus norvegicus (Norway rat)
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)
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:0112378
  • muscular dystrophy-dystroglycanopathy type B3
  • Aliases:
    • MDDGB3
    • congenital muscular dystrophy POMGNT1-related
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: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: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:0070067
  • White-Sutton syndrome
  • Aliases:
    • MRD37
    • WHSUS
    • autosomal dominant mental retardation 37
Rattus norvegicus (Norway rat)
DOID:0070067
  • White-Sutton syndrome
  • Aliases:
    • MRD37
    • WHSUS
    • autosomal dominant mental retardation 37
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:0080762
  • autosomal recessive limb-girdle muscular dystrophy type 2Z
  • Aliases:
    • limb-girdle muscular dystrophy 21
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:0050974
  • spinocerebellar ataxia type 25
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)
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Last updated: December 9, 2024