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 7801 - 7825 of 7942 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism
DOID:0060713
  • autosomal recessive congenital ichthyosis 4B
  • Aliases:
    • ARCI4B
    • harlequin ichthyosis
    • harlequin type ichthyosis congenita
    • harlequin type ichthyosis fetalis
Xenopus tropicalis (tropical clawed frog)
DOID:0080139
  • multiple congenital anomalies-hypotonia-seizures syndrome 2
  • Aliases:
    • developmental and epileptic encephalopathy 20
    • early infantile epileptic encephalopathy 20
    • glycosylphosphatidylinositol biosynthesis defect 4
Xenopus tropicalis (tropical clawed frog)
DOID:0112378
  • muscular dystrophy-dystroglycanopathy type B3
  • Aliases:
    • MDDGB3
    • congenital muscular dystrophy POMGNT1-related
Xenopus tropicalis (tropical clawed frog)
DOID:0110292
  • autosomal recessive limb-girdle muscular dystrophy type 2O
  • Aliases:
    • LGMD2O
    • MDDGC3
    • muscular dystrophy-dystroglycanopathy (limb-girdle) type C3
    • muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related
Xenopus tropicalis (tropical clawed frog)
DOID:0111236
  • congenital muscular dystrophy-dystroglycanopathy type A3
  • Aliases:
    • MDDGA3
    • Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related
    • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A3
Xenopus tropicalis (tropical clawed frog)
DOID:10584
  • retinitis pigmentosa
  • Aliases:
    • pericentral pigmentary retinopathy
Xenopus tropicalis (tropical clawed frog)
DOID:0050453
  • lissencephaly
Xenopus tropicalis (tropical clawed frog)
DOID:0050565
  • autosomal recessive nonsyndromic deafness
Xenopus tropicalis (tropical clawed frog)
DOID:206
  • hereditary multiple exostoses
  • Aliases:
    • Multiple congenital exostosis
    • Multiple exostosis syndromes
    • Osteochondromatosis syndrome
    • hereditary multiple exostoses 1
    • hereditary multiple exostoses 2
    • hereditary multiple exostoses 3
    • multiple ostechondromas
Xenopus tropicalis (tropical clawed frog)
DOID:0112233
  • lissencephaly 8
  • Aliases:
    • LIS8
Danio rerio (zebrafish)
DOID:1826
  • epilepsy
  • Aliases:
    • epilepsy syndrome
    • epileptic syndrome
Danio rerio (zebrafish)
DOID:0070433
  • hyperphosphatasia with impaired intellectual development syndrome 1
  • Aliases:
    • GPIBD2
    • HPMRS1
    • glycosylphosphatidylinositol biosynthesis defect 2
    • hyperphosphatasia with mental retardation syndrome 1
Danio rerio (zebrafish)
DOID:9409
  • diabetes insipidus
Xenopus tropicalis (tropical clawed frog)
DOID:3525
  • middle cerebral artery infarction
Xenopus tropicalis (tropical clawed frog)
DOID:6432
  • pulmonary hypertension
Xenopus tropicalis (tropical clawed frog)
DOID:14227
  • azoospermia
Xenopus tropicalis (tropical clawed frog)
DOID:1059
  • intellectual disability
Xenopus tropicalis (tropical clawed frog)
DOID:0060041
  • autism spectrum disorder
Xenopus tropicalis (tropical clawed frog)
DOID:0112233
  • lissencephaly 8
  • Aliases:
    • LIS8
Xenopus tropicalis (tropical clawed frog)
DOID:1826
  • epilepsy
  • Aliases:
    • epilepsy syndrome
    • epileptic syndrome
Xenopus tropicalis (tropical clawed frog)
DOID:576
  • proteinuria
Xenopus tropicalis (tropical clawed frog)
DOID:0111239
  • congenital muscular dystrophy-dystroglycanopathy type A10
  • Aliases:
    • MDDGA10
    • Walker-Warburg syndrome or muscle-eye-brain disease, TMEM5-related
    • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A10
Xenopus tropicalis (tropical clawed frog)
DOID:2986
  • IgA glomerulonephritis
  • Aliases:
    • Berger's IgA or IgG nephropathy
    • Focal Glomerulonephritis
    • IgA nephropathy
    • primary IgA nephropathy
    • segmental glomerulonephritis
Xenopus tropicalis (tropical clawed frog)
DOID:28
  • endocrine system disease
Xenopus tropicalis (tropical clawed frog)
DOID:0070256
  • congenital disorder of glycosylation type IId
  • Aliases:
    • CDG IId
    • CDG2D
    • CDGIId
Xenopus tropicalis (tropical clawed frog)

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Last updated: August 19, 2024