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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 12526 - 12550 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism Source
DOID:0080591
  • Klippel-Feil syndrome 3
Xenopus tropicalis (tropical clawed frog)
DOID:0060850
  • annular pancreas
Xenopus tropicalis (tropical clawed frog)
DOID:14323
  • Marfan syndrome
  • Aliases:
    • Marfan's syndrome
Xenopus tropicalis (tropical clawed frog)
DOID:0060772
  • multiple types of congenital heart defects 6
  • Aliases:
    • DTGA3
    • dextro-looped transposition of the great arteries 3
Xenopus tropicalis (tropical clawed frog)
DOID:0110985
  • Joubert syndrome 16
  • Aliases:
    • JBTS16
Xenopus tropicalis (tropical clawed frog)
DOID:0050633
  • ocular albinism 1
  • Aliases:
    • Albinism ocular 1
    • ocular albinism
Homo sapiens (human)
DOID:0111795
  • congenital nystagmus 6
  • Aliases:
    • NYS6
    • X-linked congenital nystagmus 6
Homo sapiens (human)
DOID:10605
  • short bowel syndrome
  • Aliases:
    • acquired short bowel syndrome
    • short gut syndrome
Xenopus tropicalis (tropical clawed frog)
DOID:0112295
  • spondylometaphyseal dysplasia
Xenopus tropicalis (tropical clawed frog)
DOID:0050700
  • cardiomyopathy
  • Aliases:
    • Cardiomyopathies
Danio rerio (zebrafish)
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
Danio rerio (zebrafish)
DOID:0111666
  • proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome
  • Aliases:
    • EPV
    • Fowler syndrome
    • Fowler vasculopathy
    • PVHH
    • cerebral proliferative glomeruloid vasculopathy
    • encephaloclastic proliferative vasculopathy
    • hydranencephaly, Fowler type
    • hydrocephaly/hydranencephaly due to cerebral vasculopathy
    • proliferative vasculopathy and hydranencephaly/hydrocephaly
Danio rerio (zebrafish)
DOID:0110170
  • Charcot-Marie-Tooth disease axonal type 2Q
  • Aliases:
    • CMT2Q
    • Charcot-Marie-Tooth neuropathy type 2Q
    • autosomal dominant Charcot-Marie-Tooth disease type 2Q
    • autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q
Danio rerio (zebrafish)
DOID:0111453
  • 2-aminoadipic 2-oxoadipic aciduria
  • Aliases:
    • AMOXAD
    • alpha-aminoadipic aciduria
Danio rerio (zebrafish)
DOID:2566
  • corneal dystrophy
Rattus norvegicus (Norway rat)
DOID:0110698
  • hypotrichosis 1
  • Aliases:
    • Hhs
    • Hts
    • Hypt1
    • hereditary generalized hypotrichosis simplex
Mus musculus (house mouse)
DOID:0080319
  • X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia
  • Aliases:
    • XMEN
Xenopus laevis (African clawed frog)
DOID:0111839
  • congenital disorder of glycosylation Icc
  • Aliases:
    • congenital disorder of glycosylation type Icc
Xenopus laevis (African clawed frog)
DOID:8866
  • actinic keratosis
  • Aliases:
    • SK - Solar keratosis
    • Senile hyperkeratosis
    • Solar keratosis
    • actinic (Solar) Keratosis
Homo sapiens (human)
DOID:0050675
  • Birk-Barel syndrome
  • Aliases:
    • Birk-Barel mental retardation dysmorphism syndrome
Xenopus laevis (African clawed frog)
DOID:0060230
  • basal ganglia calcification
  • Aliases:
    • Fahr disease
Xenopus laevis (African clawed frog)
DOID:1056
  • oculocerebrorenal syndrome
  • Aliases:
    • Lowe syndrome
    • lowe oculocerebrorenal syndrome
    • oculocerebrorenal syndrome of Lowe
Homo sapiens (human)
DOID:0111391
  • mucopolysaccharidosis IVA
  • Aliases:
    • GALNS deficiency
    • MPS IVA
    • MPS4A
    • Morquio A disease
    • Morquio syndrome A
Xenopus laevis (African clawed frog)
DOID:0110284
  • autosomal recessive limb-girdle muscular dystrophy type 2L
  • Aliases:
    • LGMD2L
    • muscular dystrophy, limb-girdle, type 2L
Xenopus laevis (African clawed frog)
DOID:0110296
  • autosomal recessive limb-girdle muscular dystrophy type 2M
  • Aliases:
    • LGMD2M
    • MDDGC4
    • muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4
Xenopus laevis (African clawed frog)
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Supported by JST NBDC Grant Number JPMJND2204

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Last updated: December 9, 2024