GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source Last Updated
Alliance of Genome Resources July 29, 2024
DisGeNET July 29, 2024
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 1126 - 1150 of 4621 in total
Disease ID Disease Name ▲ Gene Symbol Gene ID Organism
DOID:0081427
  • autosomal recessive distal hereditary motor neuronopathy 8
  • Aliases:
    • SORDD
    • sorbitol dehydrogenase deficiency with peripheral neuropathy
Homo sapiens (human)
DOID:0090105
  • autosomal recessive hypercholesterolemia
  • Aliases:
    • ARH
    • ARH1
    • ARH2
    • FHCB1
    • FHCB2
    • autosomal recessive hypercholesterolemia 1
    • autosomal recessive hypercholesterolemia 2
    • familial autosomal recessive hypercholesterolemia
Homo sapiens (human)
DOID:0050949
  • autosomal recessive hypophosphatemic rickets
Homo sapiens (human)
DOID:0081180
  • autosomal recessive intellectual developmental disorder 12
Homo sapiens (human)
DOID:0081188
  • autosomal recessive intellectual developmental disorder 14
Homo sapiens (human)
DOID:0081210
  • autosomal recessive intellectual developmental disorder 46
Homo sapiens (human)
DOID:0081215
  • autosomal recessive intellectual developmental disorder 52
Homo sapiens (human)
DOID:0081219
  • autosomal recessive intellectual developmental disorder 57
Homo sapiens (human)
DOID:0081221
  • autosomal recessive intellectual developmental disorder 59
Homo sapiens (human)
DOID:0081183
  • autosomal recessive intellectual developmental disorder 7
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: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:0110281
  • autosomal recessive limb-girdle muscular dystrophy type 2G
  • Aliases:
    • LGMD2G
    • limb-girdle muscular dystrophy due to telethonin deficiency
    • muscular dystrophy, limb-girdle, type 2G
Homo sapiens (human)
DOID:0110282
  • autosomal recessive limb-girdle muscular dystrophy type 2H
  • Aliases:
    • LGMD2H
    • limb-girdle muscular dystrophy due to TRIM32 deficiency
    • muscular dystrophy Hutterite type
    • sarcotubular myopathy
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)

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