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 7176 - 7200 of 7942 in total
Disease ID Disease Name Gene Symbol ▼ Gene ID Organism
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:0110284
  • autosomal recessive limb-girdle muscular dystrophy type 2L
  • Aliases:
    • LGMD2L
    • muscular dystrophy, limb-girdle, type 2L
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: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:0110300
  • obsolete autosomal dominant limb-girdle muscular dystrophy type 1A
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:0110274
  • autosomal recessive limb-girdle muscular dystrophy
Homo sapiens (human)
DOID:0110273
  • autosomal dominant limb-girdle muscular dystrophy
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)
DOID:1657
  • ventricular septal defect
  • Aliases:
    • Interventricular septal defect
    • Ventricular septal abnormality
Homo sapiens (human)
DOID:0110114
  • atrial heart septal defect 9
  • Aliases:
    • ASD9
    • atrial septal defect 9
Homo sapiens (human)
DOID:0110110
  • atrial heart septal defect 5
  • Aliases:
    • ASD5
    • atrial septal defect 5
Homo sapiens (human)
DOID:0110109
  • atrial heart septal defect 4
  • Aliases:
    • ASD4
    • atrial septal defect 4
Homo sapiens (human)
DOID:0110113
  • atrial heart septal defect 8
  • Aliases:
    • ASD8
    • atrial septal defect 8
Homo sapiens (human)
DOID:0110111
  • atrial heart septal defect 6
  • Aliases:
    • ASD6
    • atrial septal defect 6
Homo sapiens (human)

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Last updated: August 19, 2024