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 2851 - 2875 of 4115 in total
Disease ID Disease Name ▼ Gene Symbol Gene ID Organism Source
DOID:0110471
  • autosomal recessive nonsyndromic deafness 16
  • Aliases:
    • DFNB16
    • autosomal recessive deafness 16
Homo sapiens (human)
DOID:0110467
  • autosomal recessive nonsyndromic deafness 12
  • Aliases:
    • DFNB12
    • autosomal recessive deafness 12
Homo sapiens (human)
DOID:0112162
  • autosomal recessive nonsyndromic deafness 116
  • Aliases:
    • DFNB116
Homo sapiens (human)
DOID:0111643
  • autosomal recessive nonsyndromic deafness 115
  • Aliases:
    • DFNB115
    • autosomal recessive deafness 115
Homo sapiens (human)
DOID:0111636
  • autosomal recessive nonsyndromic deafness 113
  • Aliases:
    • DFNB113
    • autosomal recessive deafness 113
Homo sapiens (human)
DOID:0111637
  • autosomal recessive nonsyndromic deafness 112
  • Aliases:
    • DFNB112
    • autosomal recessive deafness 112
Homo sapiens (human)
DOID:0111640
  • autosomal recessive nonsyndromic deafness 111
  • Aliases:
    • DFNB111
    • autosomal recessive deafness 111
Homo sapiens (human)
DOID:0111644
  • autosomal recessive nonsyndromic deafness 110
  • Aliases:
    • DFNB110
    • autosomal recessive deafness 110
Homo sapiens (human)
DOID:0080263
  • autosomal recessive nonsyndromic deafness 108
Homo sapiens (human)
DOID:0080261
  • autosomal recessive nonsyndromic deafness 106
Homo sapiens (human)
DOID:0110465
  • autosomal recessive nonsyndromic deafness 104
  • Aliases:
    • DFNB104
    • autosomal recessive deafness 104
Homo sapiens (human)
DOID:0110463
  • autosomal recessive nonsyndromic deafness 102
  • Aliases:
    • DFNB102
    • autosomal recessive deafness 102
Homo sapiens (human)
DOID:0111638
  • autosomal recessive nonsyndromic deafness 100
  • Aliases:
    • DFNB100
    • autosomal recessive deafness 100
Homo sapiens (human)
DOID:0110274
  • autosomal recessive limb-girdle muscular dystrophy
Homo sapiens (human)
DOID:0080762
  • autosomal recessive limb-girdle muscular dystrophy type 2Z
  • Aliases:
    • limb-girdle muscular dystrophy 21
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)
DOID:0110290
  • autosomal recessive limb-girdle muscular dystrophy type 2X
  • Aliases:
    • LGMD2X
    • muscular dystrophy, limb-girdle, type 2X
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: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: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: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: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: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: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:0110296
  • autosomal recessive limb-girdle muscular dystrophy type 2M
  • Aliases:
    • LGMD2M
    • MDDGC4
    • muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4
Homo sapiens (human)

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Last updated: April 7, 2025