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 1001 - 1025 of 7942 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism
DOID:10908
  • hydrocephalus
  • Aliases:
    • hydrocephalus, X-linked
    • hydrocephalus, nonsyndromic, autosomal recessive
Homo sapiens (human)
DOID:0050560
  • Walker-Warburg syndrome
  • Aliases:
    • HARD syndrome
    • cerebroocular dysplasia-muscular dystrophy syndrome
Homo sapiens (human)
DOID:0111237
  • congenital muscular dystrophy-dystroglycanopathy type A1
  • Aliases:
    • MDDGA1
    • Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related
    • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A1
Homo sapiens (human)
DOID:1686
  • glaucoma
Homo sapiens (human)
DOID:83
  • cataract
Homo sapiens (human)
DOID:0060287
  • cornea plana
  • Aliases:
    • flat cornea
Homo sapiens (human)
DOID:0060673
  • Peters anomaly
Homo sapiens (human)
DOID:14159
  • obstructive hydrocephalus
Homo sapiens (human)
DOID:1573
  • communicating hydrocephalus
Homo sapiens (human)
DOID:14524
  • senile degeneration of brain
  • Aliases:
    • Senile brain degen.
Homo sapiens (human)
DOID:2785
  • Dandy-Walker syndrome
  • Aliases:
    • Atresia of foramina of Magendie and Luschka
Homo sapiens (human)
DOID:8501
  • fundus dystrophy
  • Aliases:
    • Retinal Dystrophy
Homo sapiens (human)
DOID:5327
  • retinal detachment
Homo sapiens (human)
DOID:11723
  • Duchenne muscular dystrophy
  • Aliases:
    • Muscular dystrophy, Duchenne
Homo sapiens (human)
DOID:0050557
  • congenital muscular dystrophy
Homo sapiens (human)
DOID:0060255
  • rippling muscle disease 2
  • Aliases:
    • autosomal dominant limb-girdle muscular dystrophy type 1C
Homo sapiens (human)
DOID:0080092
  • myofibrillar myopathy 1
  • Aliases:
    • autosomal recessive limb-girdle muscular dystrophy type 2R
    • desminopathy
Homo sapiens (human)
DOID:0080094
  • myofibrillar myopathy 3
  • Aliases:
    • LGMD 1A
    • autosomal dominant limb-girdle muscular dystrophy type 1A
    • myotilinopathy
    • spheroid body myopathy
Homo sapiens (human)
DOID:0070247
  • autosomal dominant Emery-Dreifuss muscular dystrophy 2
  • Aliases:
    • EDMD2
    • EMD2
    • Emery-Dreifuss muscular dystrophy 2, autosomal dominant
    • Emery-Dreifuss muscular dystrophy, autosomal dominant
    • Hauptmann-Thannhauser muscular dystrophy
    • autosomal dominant limb-girdle muscular dystrophy type 1B
    • muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant
    • scapuloilioperoneal atrophy with cardiopathy
Homo sapiens (human)
DOID:0050588
  • muscular dystrophy-dystroglycanopathy type B1
  • Aliases:
    • CMD due to dystroglycanopathy
    • Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1
Homo sapiens (human)
DOID:0050453
  • lissencephaly
Homo sapiens (human)
DOID:0050559
  • Fukuyama congenital muscular dystrophy
Homo sapiens (human)
DOID:11541
  • recurrent corneal erosion
  • Aliases:
    • recurrent erosion of cornea
    • recurrent erosion syndrome
Homo sapiens (human)
DOID:0060469
  • Miller-Dieker lissencephaly syndrome
  • Aliases:
    • MDS
    • Miller-Dieker syndrome
Homo sapiens (human)
DOID:0060857
  • septooptic dysplasia
  • Aliases:
    • De Morsier syndrome
    • SOD
    • septo-optic dysplasia
Homo sapiens (human)

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


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Last updated: August 19, 2024