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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 4926 - 4950 of 15957 in total
Disease ID Disease Name Gene Symbol ▼ Gene ID Organism Source
DOID:0081366
  • Paget's disease of bone 3
  • Aliases:
    • Paget disease of bone-3
Homo sapiens (human)
DOID:0070460
  • hereditary spastic paraplegia 90B
  • Aliases:
    • SPG90B
    • autosomal recessive spastic paraplegia 90B
Homo sapiens (human)
DOID:0070459
  • hereditary spastic paraplegia 90A
  • Aliases:
    • SPG90A
    • autosomal dominant spastic paraplegia 90A
Homo sapiens (human)
DOID:0070157
  • hereditary sensory and autonomic neuropathy type 1C
  • Aliases:
    • HSAN1C
    • hereditary sensory and autonomic neuropathy type IC
Homo sapiens (human)
DOID:0081381
  • juvenile amyotrophic lateral sclerosis type 27
Homo sapiens (human)
DOID:0070152
  • hereditary sensory and autonomic neuropathy type 1A
  • Aliases:
    • HSAN1A
    • hereditary sensory and autonomic neuropathy type IA
Homo sapiens (human)
DOID:0070162
  • hereditary sensory and autonomic neuropathy type 1
  • Aliases:
    • HSAN1
    • hereditary sensory and autonomic neuropathy type I
Homo sapiens (human)
DOID:0080058
  • autosomal recessive spinocerebellar ataxia 14
  • Aliases:
    • SCAR14
Homo sapiens (human)
DOID:5572
  • Beckwith-Wiedemann syndrome
Homo sapiens (human)
DOID:0110917
  • hereditary spherocytosis type 2
  • Aliases:
    • HS2
    • SPH2
    • hereditary spherocytosis 2
Homo sapiens (human)
DOID:0050882
  • spinocerebellar ataxia type 5
Homo sapiens (human)
DOID:0080438
  • developmental and epileptic encephalopathy 5
  • Aliases:
    • DEE5
    • early infantile epileptic encephalopathy 5
Homo sapiens (human)
DOID:0081400
  • autosomal dominant distal hereditary motor neuronopathy 11
Homo sapiens (human)
DOID:0110918
  • hereditary spherocytosis type 3
  • Aliases:
    • HS3
    • SPH3
    • hereditary spherocytosis 3
Homo sapiens (human)
DOID:0080139
  • multiple congenital anomalies-hypotonia-seizures syndrome 2
  • Aliases:
    • developmental and epileptic encephalopathy 20
    • early infantile epileptic encephalopathy 20
    • glycosylphosphatidylinositol biosynthesis defect 4
Saccharomyces cerevisiae S288C
DOID:0060713
  • autosomal recessive congenital ichthyosis 4B
  • Aliases:
    • ARCI4B
    • harlequin ichthyosis
    • harlequin type ichthyosis congenita
    • harlequin type ichthyosis fetalis
Saccharomyces cerevisiae S288C
DOID:0070484
  • Legius syndrome
  • Aliases:
    • LGSS
    • NF1-like syndrome
    • neurofibromatosis type 1-like syndrome
Homo sapiens (human)
DOID:0070185
  • X-linked spermatogenic failure 2
  • Aliases:
    • SPGFX2
Saccharomyces cerevisiae S288C
DOID:0111643
  • autosomal recessive nonsyndromic deafness 115
  • Aliases:
    • DFNB115
    • autosomal recessive deafness 115
Homo sapiens (human)
DOID:0060781
  • congenital secretory sodium diarrhea 3
  • Aliases:
    • congenital secretory sodium diarrhea 3 syndromic
    • congenital secretory sodium diarrhea 3 with or without other congenital anomalies
    • congenital secretory sodium diarrhoea 3
    • congenital secretory sodium diarrhoea 3 syndromic
    • congenital secretory sodium diarrhoea 3 with or without other congenital anomalies
Homo sapiens (human)
DOID:0110816
  • hereditary spastic paraplegia 7
  • Aliases:
    • SPG7
    • autosomal recessive spastic paraplegia 7
    • spastic paraplegia type 7
Homo sapiens (human)
DOID:0110764
  • hereditary spastic paraplegia 11
  • Aliases:
    • HSP-TCC
    • Nakamura-Osame syndrome
    • SPG11
    • autosomal recessive spastic paraplegia 11
    • autosomal recessive spastic paraplegia complicated with thin corpus callosum
    • autosomal recessive spastic paraplegia type 11
    • autosomal recessive spastic paraplegia with mental impairment and thin corpus callosum
    • spastic paraplegia-intellectual disability-thin corpus callosum syndrome
Homo sapiens (human)
DOID:0060197
  • amyotrophic lateral sclerosis type 5
  • Aliases:
    • ALS5
    • amyotrophic lateral sclerosis 5
Homo sapiens (human)
DOID:0110176
  • Charcot-Marie-Tooth disease axonal type 2X
  • Aliases:
    • Charcot-Marie-Tooth neuropathy type 2X
    • autosomal recessive axonal Charcot-Marie-Tooth disease type 2X
Homo sapiens (human)
DOID:0111222
  • centronuclear myopathy 5
  • Aliases:
    • CNM5
Homo sapiens (human)
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Last updated: December 9, 2024