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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 9701 - 9725 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism Source
DOID:0060393
  • chromosome 15q11.2 deletion syndrome
  • Aliases:
    • 15q11.2 microdeletion syndrome
Rattus norvegicus (Norway rat)
DOID:0111715
  • Schaaf-Yang syndrome
  • Aliases:
    • MAGEL2-related PWLS
    • MAGEL2-related Prader-Willi-like syndrome
    • PWLS
    • SHFYNG
Rattus norvegicus (Norway rat)
DOID:0111849
  • osteogenesis imperfecta type 20
  • Aliases:
    • OI20
    • osteogenesis imperfecta type XX
Rattus norvegicus (Norway rat)
DOID:0080585
  • Van Maldergem syndrome 1
Rattus norvegicus (Norway rat)
DOID:0110806
  • hereditary spastic paraplegia 54
  • Aliases:
    • SPG54
    • autosomal recessive spastic paraplegia 54
    • autosomal recessive spastic paraplegia type 54
Rattus norvegicus (Norway rat)
DOID:0110779
  • hereditary spastic paraplegia 28
  • Aliases:
    • SPG28
    • autosomal recessive spastic paraplegia 28
    • autosomal recessive spastic paraplegia type 28
Rattus norvegicus (Norway rat)
DOID:12337
  • varicocele
  • Aliases:
    • Scrotal varices
Homo sapiens (human)
DOID:10964
  • cholesteatoma of middle ear
  • Aliases:
    • Cholesteatoma of middle ear and mastoid
    • Cholesteatoma of middle ear and/or mastoid
    • Cholesteatoma of the middle ear
    • Epidermosis of ear
    • Epidermosis of middle ear
    • middle ear cholesteatoma
Homo sapiens (human)
DOID:8717
  • decubitus ulcer
  • Aliases:
    • Decubitus (pressure) ulcer
    • Decubitus ulcer any site
    • pressure sores
    • pressure ulcer
Homo sapiens (human)
DOID:12510
  • retinal ischemia
Homo sapiens (human)
DOID:11721
  • glycogen storage disease VII
  • Aliases:
    • Glycogen storage disease 7
    • Glycogen storage disease, type VII
    • Muscle phosphofructokinase deficiency
    • glycogen storage disease type VII
    • phosphofructokinase myopathy
Homo sapiens (human)
DOID:2746
  • glycogen storage disease V
  • Aliases:
    • Glycogen storage disease 5
    • Glycogen storage disease, type V
    • McArdle's disease
    • glycogen storage disease type V
    • myophosphorylase deficiency
Homo sapiens (human)
DOID:369
  • olfactory neuroblastoma
  • Aliases:
    • Asthesioneuroblastoma
    • Esthesioneuroblastoma
    • Esthesioneuroepithelioma
    • Olfactory Esthesioneuroblastoma
    • paranasal sinus Olfactory neuroblastoma
Homo sapiens (human)
DOID:0060730
  • torsion dystonia 1
  • Aliases:
    • dystonia musculorum deformans
Mus musculus (house mouse)
DOID:0050836
  • focal dystonia
Mus musculus (house mouse)
DOID:0080981
  • arthrogryposis multiplex congenita-5
Mus musculus (house mouse)
DOID:9274
  • hyperlysinemia
Mus musculus (house mouse)
DOID:0050787
  • juvenile polyposis syndrome
Homo sapiens (human)
DOID:0050752
  • amyotrophic lateral sclerosis type 8
  • Aliases:
    • ALS8
    • amyotrophic lateral sclerosis 8
Mus musculus (house mouse)
DOID:0111194
  • autosomal dominant adult-onset proximal spinal muscular atrophy
  • Aliases:
    • Finkel disease
    • Finkel late-adult type SMA
    • SMAFK
    • autosomal dominant adult proximal spinal muscular atrophy
    • autosomal dominant adult-onset proximal SMA
    • autosomal dominant late-onset spinal muscular atrophy, Finkel type
Mus musculus (house mouse)
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:0110196
  • Charcot-Marie-Tooth disease type 4G
  • Aliases:
    • CMT4G
    • Charcot-Marie-Tooth neuropathy type 4G
    • HMSNR
    • autosomal recessive Charcot-Marie-Tooth disease type 4G
    • hereditary motor and sensory neuropathy Russe type
Homo sapiens (human)
DOID:10652
  • Alzheimer's disease
  • Aliases:
    • Alzheimer disease
    • Alzheimers dementia
Drosophila melanogaster (fruit fly)
DOID:3525
  • middle cerebral artery infarction
Drosophila melanogaster (fruit fly)
DOID:0050850
  • diabetic encephalopathy
Drosophila melanogaster (fruit fly)
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Last updated: December 9, 2024