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 3926 - 3950 of 4649 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source ▼
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: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: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:0070025
  • X-linked dyskeratosis congenita
  • Aliases:
    • DKCX
    • Zinsser-Cole-Engman syndrome
Homo sapiens (human)
DOID:0070024
  • autosomal recessive dyskeratosis congenita 6
  • Aliases:
    • DKCB6
Homo sapiens (human)
DOID:0070016
  • autosomal dominant dyskeratosis congenita 2
  • Aliases:
    • DKCA2
Homo sapiens (human)
DOID:0070013
  • Seckel syndrome 2
  • Aliases:
    • SCKL2
    • Seckel-type dwarfism 2
    • microcephalic primordial dwarfism 2
Homo sapiens (human)
DOID:0070012
  • Seckel syndrome 5
  • Aliases:
    • SCKL5
Homo sapiens (human)
DOID:0070011
  • Seckel syndrome 7
  • Aliases:
    • SCKL7
Homo sapiens (human)
DOID:0070007
  • Seckel syndrome 1
  • Aliases:
    • SCKL1
    • microcephalic primordial dwarfism I
Homo sapiens (human)
DOID:0070005
  • Seckel syndrome 9
  • Aliases:
    • SCKL9
Homo sapiens (human)
DOID:0070004
  • myeloid neoplasm
Homo sapiens (human)
DOID:0060956
  • dystonia 37, early-onset with striatal lesions
Homo sapiens (human)
DOID:0060944
  • episodic kinesigenic dyskinesia 3
Homo sapiens (human)
DOID:0060940
  • dystonia 33
Homo sapiens (human)
DOID:0060939
  • dystonia 32
  • Aliases:
    • DYT32
Homo sapiens (human)
DOID:0060937
  • dystonia 30
  • Aliases:
    • DYT30
Homo sapiens (human)
DOID:0060936
  • dystonia 28 childhood-onset
  • Aliases:
    • DYSTONIA 28, CHILDHOOD-ONSET
    • DYT28
Homo sapiens (human)
DOID:0060933
  • developmental delay, dysmorphic facies, and brain anomalies
  • Aliases:
    • DEVDFB
Homo sapiens (human)
DOID:0060931
  • developmental dysplasia of the hip 1
  • Aliases:
    • DDH1
Homo sapiens (human)
DOID:0060929
  • non-syndromic X-linked intellectual developmental disorder 111
  • Aliases:
    • XLID111
Homo sapiens (human)
DOID:0060917
  • facioscapulohumeral muscular dystrophy 3
  • Aliases:
    • FSHD3
    • facioscapulohumeral muscular dystrophy type 3
Homo sapiens (human)
DOID:0060916
  • proteasome-associated autoinflammatory syndrome 3
  • Aliases:
    • PRAAS3
Homo sapiens (human)
DOID:0060912
  • craniosynostosis 7
  • Aliases:
    • CRS7
Homo sapiens (human)
DOID:0060903
  • thrombosis
Homo sapiens (human)

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Last updated: December 9, 2024