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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 1226 - 1250 of 4115 in total
Disease ID Disease Name ▲ Gene Symbol Gene ID Organism Source
DOID:0081234
  • autosomal recessive intellectual developmental disorder 75
Homo sapiens (human)
DOID:0081235
  • autosomal recessive intellectual developmental disorder 76
Homo sapiens (human)
DOID:0081236
  • autosomal recessive intellectual developmental disorder 77
Homo sapiens (human)
DOID:0060308
  • autosomal recessive intellectual developmental disorder
  • Aliases:
    • autosomal recessive mental retardation
    • autosomal recessive non-syndromic mental retardation
Homo sapiens (human)
DOID:0111149
  • autosomal recessive isolated ectopia lentis 2
  • Aliases:
    • ECTOL2
Homo sapiens (human)
DOID:0110275
  • autosomal recessive limb-girdle muscular dystrophy type 2A
  • Aliases:
    • LGMD2A
    • Leyden-Moebius muscular dystrophy
    • limb-girdle muscular dystrophy due to calpain deficiency
    • muscular dystrophy, limb-girdle, type 2A
    • pelvofemoral muscular dystrophy
    • primary calpainopathy
Homo sapiens (human)
DOID:0110276
  • autosomal recessive limb-girdle muscular dystrophy type 2B
  • Aliases:
    • LGMD2B
    • LGMD3
    • limb-girdle muscular dystrophy due to dysferlin deficiency
    • limb-girdle muscular dystrophy type 3
Homo sapiens (human)
DOID:0110277
  • autosomal recessive limb-girdle muscular dystrophy type 2C
  • Aliases:
    • DMDA1
    • LGMD2C
    • Maghrebian myopathy
    • SCARMD
    • autosomal recessive Duchenne-like muscular dystrophy type 1
    • deficiency of sarcoglycan gamma
    • gamma-sarcoglycanopathy
    • limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency
    • muscular dystrophy, limb-girdle, type 2C
    • severe childhood autosomal recessive muscular dystrophy North African type
Homo sapiens (human)
DOID:0110278
  • autosomal recessive limb-girdle muscular dystrophy type 2D
  • Aliases:
    • Alpha-sarcoglycanopathy
    • DMDA2
    • Duchenne-like autosomal recessive muscular dystrophy type 2
    • LGMD2D
    • muscular dystrophy, limb-girdle, type 2D
    • primary adhalinopathy
Homo sapiens (human)
DOID:0110279
  • autosomal recessive limb-girdle muscular dystrophy type 2E
  • Aliases:
    • Beta-sarcoglycanopathy
    • LGMD2E
    • Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency
    • muscular dystrophy, limb-girdle, type 2E
Homo sapiens (human)
DOID:0110280
  • autosomal recessive limb-girdle muscular dystrophy type 2F
  • Aliases:
    • LGMD2F
    • delta-sarcoglycanopathy
    • limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency
Homo sapiens (human)
DOID:0110299
  • autosomal recessive limb-girdle muscular dystrophy type 2I
  • Aliases:
    • LGMD2I
    • Limb-girdle muscular dystrophy due to FKRP deficiency
    • MDDGC5
    • muscular dystrophy limb-girdle type 2I
    • muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5
    • muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related
Homo sapiens (human)
DOID:0110283
  • autosomal recessive limb-girdle muscular dystrophy type 2J
  • Aliases:
    • LGMD2J
    • muscular dystrophy, limb-girdle, type 2J
Homo sapiens (human)
DOID:0110297
  • autosomal recessive limb-girdle muscular dystrophy type 2K
  • Aliases:
    • LGMD2K
    • MDDGC1
    • limb-girdle muscular dystrophy-intellectual disability syndrome
    • muscular dystrophy limb-girdle type 2K
    • muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1
Homo sapiens (human)
DOID:0110284
  • autosomal recessive limb-girdle muscular dystrophy type 2L
  • Aliases:
    • LGMD2L
    • muscular dystrophy, limb-girdle, type 2L
Homo sapiens (human)
DOID:0110296
  • autosomal recessive limb-girdle muscular dystrophy type 2M
  • Aliases:
    • LGMD2M
    • MDDGC4
    • muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4
Homo sapiens (human)
DOID:0110298
  • autosomal recessive limb-girdle muscular dystrophy type 2N
  • Aliases:
    • LGMD2N
    • muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2
    • muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related
Homo sapiens (human)
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
Homo sapiens (human)
DOID:0110293
  • autosomal recessive limb-girdle muscular dystrophy type 2P
  • Aliases:
    • LGMD2P
    • MDDGC9
    • muscular dystrophy-dystroglycanopathy (limb-girdle) type C9
    • muscular dystrophy-dystroglycanopathy limb-girdle DAG1-related
Homo sapiens (human)
DOID:0110285
  • autosomal recessive limb-girdle muscular dystrophy type 2Q
  • Aliases:
    • LGMD2Q
    • autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency
    • muscular dystrophy, limb-girdle, type 2Q
Homo sapiens (human)
DOID:0110294
  • autosomal recessive limb-girdle muscular dystrophy type 2T
  • Aliases:
    • LGMD2T
    • MDDGC14
    • muscular dystrophy limb-girdle type 2T
    • muscular dystrophy-dystroglycanopathy (limb-girdle) type C14
    • muscular dystrophy-dystroglycanopathy limb-girdle GMPPB-related
Homo sapiens (human)
DOID:0110295
  • autosomal recessive limb-girdle muscular dystrophy type 2U
  • Aliases:
    • LGMD2U
    • MDDGC7
    • autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency
    • muscular dystrophy limb-girdle type 2U
    • muscular dystrophy-dystroglycanopathy (limb-girdle) type C7
Homo sapiens (human)
DOID:0110288
  • autosomal recessive limb-girdle muscular dystrophy type 2W
  • Aliases:
    • LGMD2W
    • muscular dystrophy, limb-girdle, type 2W
Homo sapiens (human)
DOID:0110290
  • autosomal recessive limb-girdle muscular dystrophy type 2X
  • Aliases:
    • LGMD2X
    • muscular dystrophy, limb-girdle, type 2X
Homo sapiens (human)
DOID:0110289
  • autosomal recessive limb-girdle muscular dystrophy type 2Y
  • Aliases:
    • LGMD2Y
    • autosomal recessive muscular dystrophy due to LAP1B deficiency
    • autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency
    • muscular dystrophy with progressive weakness, distal contractures and rigid spine
    • muscular dystrophy, limb-girdle, type 2Y
Homo sapiens (human)
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Last updated: April 7, 2025