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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 October 9, 2024
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 8651 - 8675 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▼ Source
DOID:0070063
  • autosomal dominant intellectual developmental disorder 33
  • Aliases:
    • MRD33
    • autosomal dominant mental retardation 33
    • autosomal dominant non-syndromic intellectual disability 33
Homo sapiens (human)
DOID:0081424
  • familial focal epilepsy with variable foci 4
Homo sapiens (human)
DOID:12783
  • migraine without aura
  • Aliases:
    • common migraine
Homo sapiens (human)
DOID:0060787
  • hypomyelinating leukodystrophy 2
  • Aliases:
    • HLD2
    • PMLD1
    • Pelizaeus-Merzbacher-like disease 1
    • Pelizaeus-Merzbacher-like disease due to GJC2 mutation
Homo sapiens (human)
DOID:13269
  • hereditary coproporphyria
  • Aliases:
    • Coproporphyrinogen oxidase deficiency
    • hereditary coproporphyria porphyria
Homo sapiens (human)
DOID:0060884
  • renal hypomagnesemia 6
  • Aliases:
    • HOMG6
Homo sapiens (human)
DOID:0090136
  • complex cortical dysplasia with other brain malformations 6
  • Aliases:
    • CDCBM56
Homo sapiens (human)
DOID:12859
  • choreatic disease
  • Aliases:
    • chorea
    • hereditary chorea
Homo sapiens (human)
DOID:5520
  • head and neck squamous cell carcinoma
  • Aliases:
    • carcinoma of the head and neck
    • squamous cell carcinoma of the head and neck
    • squamous cell carcinomas of head and neck
Homo sapiens (human)
DOID:0080909
  • castration-resistant prostate carcinoma
Homo sapiens (human)
DOID:0111546
  • Currarino syndrome
  • Aliases:
    • Currarino triad
Homo sapiens (human)
DOID:0060715
  • autosomal recessive congenital ichthyosis 6
  • Aliases:
    • ARCI6
Homo sapiens (human)
DOID:0070251
  • X-linked Emery-Dreifuss muscular dystrophy 6
  • Aliases:
    • EDMD6
    • Emery-Dreifuss muscular dystrophy 6, X-linked
    • XMPMA
    • myopathy, X-linked, with postural muscle atrophy
Homo sapiens (human)
DOID:0080592
  • Klippel-Feil syndrome 4
Homo sapiens (human)
DOID:0080908
  • Cockayne syndrome B
  • Aliases:
    • Cockayne syndrome 2
    • Cockayne syndrome type II
Homo sapiens (human)
DOID:0070302
  • multiple epiphyseal dysplasia 7
  • Aliases:
    • EDM7
Homo sapiens (human)
DOID:0110790
  • hereditary spastic paraplegia 39
  • Aliases:
    • NTE-related motor neuron disorder
    • NTEMND
    • SPG39
    • autosomal recessive spastic paraplegia 39
    • autosomal recessive spastic paraplegia type 39
    • spastic paraplegia due to NTE mutation
    • spastic paraplegia due to neuropathy target esterase mutation
Homo sapiens (human)
DOID:0080171
  • esophageal atresia/tracheoesophageal fistula
  • Aliases:
    • esophageal atresia and/or tracheoesophageal fistula
    • tracheoesophageal fistula with or without esohageal atresia
Homo sapiens (human)
DOID:0110486
  • autosomal recessive nonsyndromic deafness 28
  • Aliases:
    • DFNB28
    • autosomal recessive deafness 28
Homo sapiens (human)
DOID:12129
  • bulimia nervosa
  • Aliases:
    • hyperorexia nervosa
Homo sapiens (human)
DOID:9146
  • visceral leishmaniasis
  • Aliases:
    • Infection by visceral leishmaniasis
    • Kala-Azar
Homo sapiens (human)
DOID:0050989
  • episodic ataxia type 1
Homo sapiens (human)
DOID:3179
  • inverted papilloma
  • Aliases:
    • Inverted papilloma, squamous cell
Homo sapiens (human)
DOID:13252
  • mesenteric vascular occlusion
Homo sapiens (human)
DOID:898
  • autosomal dominant polycystic kidney disease
  • Aliases:
    • ADPKD
    • Congenital biliary ectasias
    • POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1
Homo sapiens (human)
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Last updated: December 9, 2024