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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 January 28, 2025
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 301 - 325 of 5716 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▲ Source
DOID:0110060
  • amelogenesis imperfecta hypomaturation type 2A2
  • Aliases:
    • AI2A2
    • amelogenesis imperfecta hypomaturation type IIA2
    • amelogenesis imperfecta pigmented hypomaturation type 2
    • amelogenesis imperfecta type IIA2
Homo sapiens (human)
DOID:3687
  • MELAS syndrome
  • Aliases:
    • MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES
Homo sapiens (human)
DOID:12712
  • nephronophthisis
  • Aliases:
    • medullary cystic disease
    • medullary cystic kidney
Homo sapiens (human)
DOID:0060303
  • complement component 9 deficiency
Homo sapiens (human)
DOID:0060500
  • drug allergy
Homo sapiens (human)
DOID:3413
  • alpha-mannosidosis
  • Aliases:
    • Alpha-D-mannosidosis
    • alpha-mannosidase deficiency
    • deficiency of alpha-mannosidase
Homo sapiens (human)
DOID:0050857
  • Perrault syndrome
Homo sapiens (human)
DOID:0112232
  • lissencephaly 3
  • Aliases:
    • LIS3
Homo sapiens (human)
DOID:0110659
  • congenital myasthenic syndrome 7
  • Aliases:
    • CMS7
    • congenital myasthenic syndrome 7 presynaptic
Homo sapiens (human)
DOID:4674
  • androgen insensitivity syndrome
  • Aliases:
    • Androgen resistance syndrome
    • Androgen-Insensitivity Syndrome
    • Feminisation - testicular
    • Goldberg - Maxwell syndrome
    • Goldberg-Maxwell syndrome
    • testicular Feminization syndrome
    • testicular feminization
Homo sapiens (human)
DOID:0060848
  • developmental and epileptic encephalopathy 9
  • Aliases:
    • DEE9
    • EFMR
    • EIEE9
    • Juberg Hellman syndrome
    • early infantile epileptic encephalopathy 9
    • early infantile female-limited epilecptic encephalopathy
    • female restricted epilepsy with mental retardation
Homo sapiens (human)
DOID:0110534
  • autosomal recessive nonsyndromic deafness 89
  • Aliases:
    • DFNB89
    • autosomal recessive deafness 89
Homo sapiens (human)
DOID:0080077
  • hypophosphatemic nephrolithiasis/osteoporosis 1
Homo sapiens (human)
DOID:0080975
  • intracranial berry aneurysm 12
Homo sapiens (human)
DOID:0080581
  • hyperekplexia 4
Homo sapiens (human)
DOID:13777
  • epidermodysplasia verruciformis
Homo sapiens (human)
DOID:0111448
  • progressive myoclonus epilepsy 1B
  • Aliases:
    • EPM1B
Homo sapiens (human)
DOID:0080681
  • X-linked chronic idiopathic intestinal pseudo-obstruction
Homo sapiens (human)
DOID:0070371
  • leukoencephalopathy with vanishing white matter 4
Homo sapiens (human)
DOID:0080095
  • myofibrillar myopathy 4
  • Aliases:
    • zaspopathy
Homo sapiens (human)
DOID:0080589
  • Klippel-Feil syndrome 1
Homo sapiens (human)
DOID:0111386
  • inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3
  • Aliases:
    • IBMPFD3
    • MSP3
    • multisystem proteinopathy 3
Homo sapiens (human)
DOID:8506
  • bullous pemphigoid
Homo sapiens (human)
DOID:0060337
  • CEDNIK syndrome
  • Aliases:
    • cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome
Homo sapiens (human)
DOID:865
  • vasculitis
  • Aliases:
    • Angiitis
Homo sapiens (human)
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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

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Last updated: December 8, 2025