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 3851 - 3875 of 4621 in total
Disease ID Disease Name Gene Symbol ▼ Gene ID Organism
DOID:11724
  • limb-girdle muscular dystrophy
  • Aliases:
    • Erb's muscular dystrophy
    • Leyden-Mbius muscular dystrophy
    • limb girdle muscular dystrophy
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:0110274
  • autosomal recessive limb-girdle muscular dystrophy
Homo sapiens (human)
DOID:11719
  • oculopharyngeal muscular dystrophy
  • Aliases:
    • Muscular dystrophy, oculopharyngeal
Homo sapiens (human)
DOID:11727
  • facioscapulohumeral muscular dystrophy
  • Aliases:
    • Landouzy Dejerine muscular dystrophy
    • Landouzy-Dejerine muscular dystrophy
    • Muscular dystrophy, Landouzy-Dejerine
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:0110303
  • autosomal dominant limb-girdle muscular dystrophy type 1H
  • Aliases:
    • LGMD1H
    • muscular dystrophy limb-girdle type 1H
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: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:0110273
  • autosomal dominant limb-girdle muscular dystrophy
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: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:0110286
  • obsolete autosomal recessive limb-girdle muscular dystrophy type 2R
Homo sapiens (human)
DOID:0110305
  • autosomal dominant limb-girdle muscular dystrophy type 1
  • Aliases:
    • LGMD1D
    • autosomal dominant limb-girdle muscular dystrophy type 1E
    • muscular dystrophy limb-girdle type 1D
    • muscular dystrophy limb-girdle type 1E
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:11720
  • distal myopathy
  • Aliases:
    • distal muscular dystrophy
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:9884
  • muscular dystrophy
Homo sapiens (human)
DOID:6457
  • Cowden syndrome
  • Aliases:
    • Cowden disease
    • Lhermitte-Duclos disease
    • dysplastic Gangliocytoma of Cerebellum
Homo sapiens (human)
DOID:0050657
  • Bannayan-Riley-Ruvalcaba syndrome
  • Aliases:
    • Bannayan-Zonana syndrome
    • Cowden syndrome 1
    • Riley-Smith syndrome
    • Ruvalcaba-Myhre-Smith syndrome
Homo sapiens (human)
DOID:9120
  • amyloidosis
  • Aliases:
    • amyloid disease
Homo sapiens (human)
DOID:0060574
  • von Willebrand's disease 2
  • Aliases:
    • VWD type 2
    • VWD2
    • von Willebrand disease type 2
    • von Willebrand disease type II
Homo sapiens (human)
DOID:0111277
  • mitochondrial trifunctional protein deficiency
  • Aliases:
    • MTPD
    • TFP deficiency
    • TFPD
Homo sapiens (human)
DOID:0050811
  • congenital adrenal hyperplasia
  • Aliases:
    • adrenal hyperplasia 1
    • congenital lipoid adrenal hyperplasia
    • lipoid CAH
Homo sapiens (human)

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Supported by JST NBDC Grant Number JPMJND2204

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Last updated: August 19, 2024