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 726 - 750 of 4649 in total
Disease ID ▲ Disease Name Gene Symbol Gene ID Organism Source
DOID:0060944
  • episodic kinesigenic dyskinesia 3
Homo sapiens (human)
DOID:0060956
  • dystonia 37, early-onset with striatal lesions
Homo sapiens (human)
DOID:0070004
  • myeloid neoplasm
Homo sapiens (human)
DOID:0070005
  • Seckel syndrome 9
  • Aliases:
    • SCKL9
Homo sapiens (human)
DOID:0070007
  • Seckel syndrome 1
  • Aliases:
    • SCKL1
    • microcephalic primordial dwarfism I
Homo sapiens (human)
DOID:0070011
  • Seckel syndrome 7
  • Aliases:
    • SCKL7
Homo sapiens (human)
DOID:0070012
  • Seckel syndrome 5
  • Aliases:
    • SCKL5
Homo sapiens (human)
DOID:0070013
  • Seckel syndrome 2
  • Aliases:
    • SCKL2
    • Seckel-type dwarfism 2
    • microcephalic primordial dwarfism 2
Homo sapiens (human)
DOID:0070016
  • autosomal dominant dyskeratosis congenita 2
  • Aliases:
    • DKCA2
Homo sapiens (human)
DOID:0070024
  • autosomal recessive dyskeratosis congenita 6
  • Aliases:
    • DKCB6
Homo sapiens (human)
DOID:0070025
  • X-linked dyskeratosis congenita
  • Aliases:
    • DKCX
    • Zinsser-Cole-Engman syndrome
Homo sapiens (human)
DOID:0070028
  • APP-related cerebral amyloid angiopathy
  • Aliases:
    • Amyloidosis, Cerebroarterial, App-Related
    • Amyloidosis, Hereditary, With Cerebral Hemorrhage, Dutch Variant
    • Cerebral Amyloid Angiopathy, App-Related, Arctic Variant
    • Cerebral Amyloid Angiopathy, App-Related, Dutch Variant
    • Cerebral Amyloid Angiopathy, App-Related, Flemish Variant
    • Cerebral Amyloid Angiopathy, App-Related, Iowa Variant
    • Cerebral Amyloid Angiopathy, App-Related, Italian Variant
    • HCHWAD
Homo sapiens (human)
DOID:0070029
  • ITM2B-related cerebral amyloid angiopathy 1
  • Aliases:
    • Cerebral Amyloid Angiopathy, British Type
    • FBD
    • Familial British Dementia
    • Presenile Dementia with Spastic Ataxia
Homo sapiens (human)
DOID:0070030
  • ITM2B-related cerebral amyloid angiopathy 2
  • Aliases:
    • Cerebellar Ataxia, Cataract, Deafness, and Dementia Or Psychosis
    • FDD
    • Familial Danish Dementia
    • HOOE
    • Heredopathia Ophthalmootoencephalica
Homo sapiens (human)
DOID:0070031
  • autosomal dominant intellectual developmental disorder 1
  • Aliases:
    • MRD1
    • autosomal dominant mental retardation 1
    • autosomal dominant non-syndromic intellectual disability 1
Homo sapiens (human)
DOID:0070033
  • autosomal dominant intellectual developmental disorder 3
  • Aliases:
    • MRD3
    • autosomal dominant mental retardation 3
    • autosomal dominant non-syndromic intellectual disability 3
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: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: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: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:0070040
  • autosomal dominant intellectual developmental disorder 10
  • Aliases:
    • MRD10
    • autosomal dominant mental retardation 10
    • autosomal dominant non-syndromic intellectual disability 10
Homo sapiens (human)
DOID:0070041
  • autosomal dominant intellectual developmental disorder 11
  • Aliases:
    • MRD11
    • autosomal dominant mental retardation 11
    • autosomal dominant non-syndromic intellectual disability 11
Homo sapiens (human)
DOID:0070042
  • Coffin-Siris syndrome 1
  • Aliases:
    • CSS1
    • MRD12
    • autosomal dominant mental retardation 12
    • fifth digit syndrome
Homo sapiens (human)
DOID:0070043
  • autosomal dominant intellectual developmental disorder 13
  • Aliases:
    • MRD13
    • autosomal dominant mental retardation 13
    • autosomal dominant non-syndromic intellectual disability 13
    • mental retardation, autosomal dominant 13, with neuronal migration defects
Homo sapiens (human)
DOID:0070044
  • Coffin-Siris syndrome 2
  • Aliases:
    • CSS2
    • MRD14
    • autosomal dominant mental retardation 14
Homo sapiens (human)

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Supported by JST NBDC Grant Number JPMJND2204

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


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Last updated: December 9, 2024