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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 January 28, 2025
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 3001 - 3025 of 4115 in total
Disease ID Disease Name ▼ Gene Symbol Gene ID Organism Source
DOID:0060682
  • autosomal dominant nocturnal frontal lobe epilepsy 1
  • Aliases:
    • ENFL1
    • nocturnal frontal lobe epilepsy 1
Homo sapiens (human)
DOID:0110273
  • autosomal dominant limb-girdle muscular dystrophy
Homo sapiens (human)
DOID:0090102
  • autosomal dominant isolated macrothrombocytopenia 1
  • Aliases:
    • MACTHC1
Homo sapiens (human)
DOID:0111150
  • autosomal dominant isolated ectopia lentis 1
  • Aliases:
    • ECTOL1
Homo sapiens (human)
DOID:0060307
  • autosomal dominant intellectual developmental disorder
  • Aliases:
    • autosomal dominant mental retardation
    • autosomal dominant non-syndromic mental retardation
Homo sapiens (human)
DOID:0070038
  • autosomal dominant intellectual developmental disorder 8
  • Aliases:
    • MRD8
    • autosomal dominant mental retardation 8
    • autosomal dominant non-syndromic intellectual disability 8
Homo sapiens (human)
DOID:0070037
  • autosomal dominant intellectual developmental disorder 7
  • Aliases:
    • DYRK1A syndrome
    • MRD7
    • autosomal dominant mental retardation 7
    • autosomal dominant non-syndromic intellectual disability 7
Homo sapiens (human)
DOID:0070036
  • autosomal dominant intellectual developmental disorder 6
  • Aliases:
    • MRD6
    • autosomal dominant mental retardation 6
    • autosomal dominant non-syndromic intellectual disability 6
Homo sapiens (human)
DOID:0080226
  • autosomal dominant intellectual developmental disorder 56
  • Aliases:
    • autosomal dominant intellectual developmental disorder-56
    • autosomal dominant mental retardation 56
Homo sapiens (human)
DOID:0080227
  • autosomal dominant intellectual developmental disorder 55
  • Aliases:
    • autosomal dominant intellectual developmental disorder-55 with seizures
    • autosomal dominant mental retardation 55
Homo sapiens (human)
DOID:0080230
  • autosomal dominant intellectual developmental disorder 54
  • Aliases:
    • autosomal dominant mental retardation 54
Homo sapiens (human)
DOID:0080228
  • autosomal dominant intellectual developmental disorder 53
  • Aliases:
    • autosomal dominant mental retardation 53
Homo sapiens (human)
DOID:0080231
  • autosomal dominant intellectual developmental disorder 52
  • Aliases:
    • autosomal dominant mental retardation 52
Homo sapiens (human)
DOID:0080232
  • autosomal dominant intellectual developmental disorder 51
  • Aliases:
    • autosomal dominant mental retardation 51
Homo sapiens (human)
DOID:0080233
  • autosomal dominant intellectual developmental disorder 50
  • Aliases:
    • autosomal dominant intellectual developmental disorder-50 with behavioral abnormalities
    • autosomal dominant mental retardation 50
Homo sapiens (human)
DOID:0070035
  • autosomal dominant intellectual developmental disorder 5
  • Aliases:
    • MRD5
    • autosomal dominant mental retardation 5
    • autosomal dominant non-syndromic intellectual disability 5
Homo sapiens (human)
DOID:0080235
  • autosomal dominant intellectual developmental disorder 48
  • Aliases:
    • autosomal dominant mental retardation 48
Homo sapiens (human)
DOID:0080238
  • autosomal dominant intellectual developmental disorder 47
  • Aliases:
    • autosomal dominant mental retardation 47
Homo sapiens (human)
DOID:0080237
  • autosomal dominant intellectual developmental disorder 46
  • Aliases:
    • autosomal dominant mental retardation 46
Homo sapiens (human)
DOID:0080236
  • autosomal dominant intellectual developmental disorder 45
  • Aliases:
    • autosomal dominant mental retardation 45
Homo sapiens (human)
DOID:0070074
  • autosomal dominant intellectual developmental disorder 44
  • Aliases:
    • MRD44
    • autosomal dominant intellectual developmental disorder 44 with microcephaly
    • autosomal dominant mental retardation 44
    • autosomal dominant non-syndromic intellectual disability 44
Homo sapiens (human)
DOID:0070073
  • autosomal dominant intellectual developmental disorder 43
  • Aliases:
    • MRD43
    • autosomal dominant mental retardation 43
    • autosomal dominant non-syndromic intellectual disability 43
Homo sapiens (human)
DOID:0070072
  • autosomal dominant intellectual developmental disorder 42
  • Aliases:
    • MRD42
    • autosomal dominant mental retardation 42
    • autosomal dominant non-syndromic intellectual disability 42
Homo sapiens (human)
DOID:0070070
  • autosomal dominant intellectual developmental disorder 40
  • Aliases:
    • MRD40
    • autosomal dominant mental retardation 40
    • autosomal dominant non-syndromic intellectual disability 40
Homo sapiens (human)
DOID:0070068
  • autosomal dominant intellectual developmental disorder 38
  • Aliases:
    • MRD38
    • PRELDS
    • autosomal dominant mental retardation 38
    • autosomal dominant non-syndromic intellectual disability 38
    • psychomotor retardation, epilepsy, and language disability syndrome
Homo sapiens (human)
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: April 7, 2025