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 4501 - 4525 of 4621 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism
DOID:13976
  • peptic esophagitis
  • Aliases:
    • Peptic reflux disease
    • Reflux oesophagitis
    • reflux esophagitis
Homo sapiens (human)
DOID:8534
  • gastroesophageal reflux disease
  • Aliases:
    • Acid reflux
    • GERD
    • GERD - Gastro-esophageal reflux disease
    • Gastresophageal reflux
    • Gastro-esophageal reflux
    • Gastroesophageal reflux
Homo sapiens (human)
DOID:12799
  • mucopolysaccharidosis II
  • Aliases:
    • Hunter syndrome
    • Hunter's syndrome
    • MPS II - Hunter syndrome
    • Mucopolysaccharidosis, MPS-II
    • deficiency of iduronate-2-sulphatase
Homo sapiens (human)
DOID:12800
  • mucopolysaccharidosis VI
  • Aliases:
    • MPS VI - Maroteaux-Lamy syndrome
    • Maroteaux - Lamy syndrome
    • Maroteaux-Lamy syndrome
    • arylsulfatase B deficiency
    • deficiency of N-acetylgalactosamine-4-sulfatase
Homo sapiens (human)
DOID:12798
  • mucopolysaccharidosis
Homo sapiens (human)
DOID:12801
  • mucopolysaccharidosis III
  • Aliases:
    • Mucopolysaccharidosis, MPS-III
    • N-sulphoglucosamine sulphohydrolase deficiency
    • Sanfilippo's syndrome
    • heparan sulfate sulfatase deficiency
Homo sapiens (human)
DOID:4543
  • retrograde amnesia
Homo sapiens (human)
DOID:12804
  • mucopolysaccharidosis IV
  • Aliases:
    • Mucopolysaccharidosis, MPS-IV
    • deficiency of N-acetylgalactosamine-6-sulphatase
    • deficiency of chondroitinsulphatase
    • galactosamine-6-sulfatase deficiency
Homo sapiens (human)
DOID:633
  • myositis
  • Aliases:
    • Inflammatory disorder of muscle
Homo sapiens (human)
DOID:12506
  • Bell's palsy
  • Aliases:
    • Bell palsy
    • Bell's (facial) palsy
Homo sapiens (human)
DOID:1756
  • facial nerve disease
Homo sapiens (human)
DOID:13934
  • facial paralysis
  • Aliases:
    • Facial Palsy
Homo sapiens (human)
DOID:0111338
  • isolated elevated serum creatine phosphokinase levels
  • Aliases:
    • elevated serum CPK
    • idiopathic hyperCKemia
    • isolated hyperCKemia
Homo sapiens (human)
DOID:440
  • neuromuscular disease
Homo sapiens (human)
DOID:9255
  • frontotemporal dementia
  • Aliases:
    • Wilhemsen-Lynch disease
    • frontotemporal lobar degeneration
    • multiple system tauopathy with presenile dementia
    • pallidopontonigral degeneration
Homo sapiens (human)
DOID:0060672
  • Grn-related frontotemporal lobar degeneration with Tdp43 inclusions
Homo sapiens (human)
DOID:5408
  • Paget's disease of bone
  • Aliases:
    • Paget disease of bone
    • Paget's bone disease
    • osseous Paget's disease
    • osteitis deformans
Homo sapiens (human)
DOID:3659
  • sialuria
Homo sapiens (human)
DOID:1588
  • thrombocytopenia
Homo sapiens (human)
DOID:1307
  • dementia
Homo sapiens (human)
DOID:0110304
  • autosomal dominant limb-girdle muscular dystrophy type 2
  • Aliases:
    • LGMD1F
    • autosomal dominant limb-girdle muscular dystrophy type 1F
    • muscular dystrophy limb-girdle type 1F
Homo sapiens (human)
DOID:0110302
  • obsolete autosomal dominant limb-girdle muscular dystrophy type 1C
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:0110284
  • autosomal recessive limb-girdle muscular dystrophy type 2L
  • Aliases:
    • LGMD2L
    • muscular dystrophy, limb-girdle, type 2L
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: August 19, 2024