GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source Last Updated
Alliance of Genome Resources July 29, 2024
DisGeNET July 29, 2024
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 2676 - 2700 of 4621 in total
Disease ID Disease Name Gene Symbol ▲ Gene ID Organism
DOID:0110774
  • hereditary spastic paraplegia 23
  • Aliases:
    • Lison syndrome
    • SPG23
    • Spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome
    • spastic paraplegia 23
    • spastic paraplegia with pigmentary abnormalities
Homo sapiens (human)
DOID:0110811
  • hereditary spastic paraplegia 6
  • Aliases:
    • FSP3
    • SPG6
    • autosomal dominant familial spastic paraplegia type 3
    • autosomal dominant spastic paraplegia 6
    • autosomal dominant spastic paraplegia type 6
Homo sapiens (human)
DOID:0110801
  • hereditary spastic paraplegia 49
  • Aliases:
    • SPG49
    • autosomal recessive spastic paraplegia 49
    • autosomal recessive spastic paraplegia type 49
Homo sapiens (human)
DOID:0110782
  • hereditary spastic paraplegia 31
  • Aliases:
    • SPG31
    • autosomal dominant spastic paraplegia 31
    • autosomal dominant spastic paraplegia type 31
Homo sapiens (human)
DOID:0110775
  • hereditary spastic paraplegia 24
  • Aliases:
    • SPG24
    • autosomal recessive spastic paraplegia 24
    • autosomal recessive spastic paraplegia type 24
Homo sapiens (human)
DOID:0110768
  • hereditary spastic paraplegia 15
  • Aliases:
    • Kjellin syndrome
    • SPG15
    • autosomal recessive spastic paraplegia 15
    • autosomal recessive spastic paraplegia type 15
    • hereditary spastic paraparesis type 15
    • spastic paraplegia and retinal degeneration
    • spastic paraplegia-retinal degeneration syndrome
Homo sapiens (human)
DOID:0110788
  • hereditary spastic paraplegia 37
  • Aliases:
    • SPG37
    • autosomal dominant spastic paraplegia 37
    • autosomal dominant spastic paraplegia type 37
Homo sapiens (human)
DOID:0110783
  • hereditary spastic paraplegia 32
  • Aliases:
    • SPG32
    • autosomal recessive spastic paraplegia 32
    • autosomal recessive spastic paraplegia type 32
Homo sapiens (human)
DOID:0110781
  • hereditary spastic paraplegia 30
  • Aliases:
    • SPG30
    • autosomal spastic paraplegia type 30
Homo sapiens (human)
DOID:0060491
  • SPOAN syndrome
  • Aliases:
    • spastic paraplegia, optic atropy, and neuropathy
    • spastic paraplegia, optic atropy, and neuropathy syndrome
Homo sapiens (human)
DOID:0110792
  • hereditary spastic paraplegia 4
  • Aliases:
    • SPG4
    • autosomal dominant spastic paraplegia 4
    • autosomal dominant spastic paraplegia type 4
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:4810
  • cerebrotendinous xanthomatosis
  • Aliases:
    • Cholestanol storage disease
Homo sapiens (human)
DOID:0070256
  • congenital disorder of glycosylation type IId
  • Aliases:
    • CDG IId
    • CDG2D
    • CDGIId
Homo sapiens (human)
DOID:28
  • endocrine system disease
Homo sapiens (human)
DOID:0080738
  • Ehlers-Danlos syndrome spondylodysplastic type 1
Homo sapiens (human)
DOID:0080102
  • congenital myopathy 4A
  • Aliases:
    • CFTD
    • congenital fiber-type disproportion
Homo sapiens (human)
DOID:0111238
  • congenital muscular dystrophy-dystroglycanopathy type A13
  • Aliases:
    • MDDGA13
    • Walker-Warburg syndrome or muscle-eye-brain disease, B3GNT1-related
    • Walker-Warburg syndrome or muscle-eye-brain disease, B4GNT1-related
    • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A13
Homo sapiens (human)
DOID:11266
  • Hantavirus hemorrhagic fever with renal syndrome
  • Aliases:
    • HFRS
    • Hemorrhagic fever, Russian
    • Hemorrhagic nephrosonephritis
    • Puumala virus nephropathy
Homo sapiens (human)
DOID:0080301
  • atypical hemolytic-uremic syndrome
Homo sapiens (human)
DOID:0111054
  • von Willebrand's disease 3
  • Aliases:
    • VWD type 3
    • VWD3
    • von Willebrand disease type 3
    • von Willebrand disease type III
Homo sapiens (human)
DOID:4291
  • fibroepithelial basal cell carcinoma
  • Aliases:
    • Fibroepithelioma of Pinkus
    • Fibroepithelioma of Pinkus type
    • Pinkus tumor
Homo sapiens (human)
DOID:11132
  • prostatic hypertrophy
Homo sapiens (human)
DOID:0081292
  • traumatic brain injury
Homo sapiens (human)
DOID:9269
  • maple syrup urine disease
  • Aliases:
    • Ketoacidaemia
    • branched chain ketoaciduria
Homo sapiens (human)

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Last updated: August 19, 2024