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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 2751 - 2775 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism Source
DOID:0060575
  • 3MC syndrome 1
Homo sapiens (human)
DOID:0080237
  • autosomal dominant intellectual developmental disorder 46
  • Aliases:
    • autosomal dominant mental retardation 46
Homo sapiens (human)
DOID:0110727
  • neuronal ceroid lipofuscinosis 13
  • Aliases:
    • CLN13
    • neuronal ceroid lipofuscinosis 13 Kufs type
Mus musculus (house mouse)
DOID:4051
  • alveolar rhabdomyosarcoma
  • Aliases:
    • alveolar childhood rhabdomyosarcoma
Mus musculus (house mouse)
DOID:0070131
  • autosomal dominant cutis laxa 3
  • Aliases:
    • ADCL3
Mus musculus (house mouse)
DOID:1283
  • enterocele
  • Aliases:
    • vaginal enterocele
Mus musculus (house mouse)
DOID:0070143
  • autosomal recessive cutis laxa type III
  • Aliases:
    • De Barsy syndrome
    • cutis laxa-corneal clouding-intellectual disability syndrome
Mus musculus (house mouse)
DOID:0110824
  • hereditary spastic paraplegia 9A
  • Aliases:
    • AD-SPG9A
    • Cataracts motor neuropathy-short stature-skeletal anomalies syndrome
    • SPG9A
    • autosomal dominant complex spastic paraplegia type 9A
    • autosomal dominant spastic paraplegia 9A
    • cataracts with motor neuronopathy, short stature and skeletal abnormalities
    • spastic paraparesis with amyopathy, cataracts and gastroesophageal reflux
    • spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome
Mus musculus (house mouse)
DOID:0070132
  • autosomal recessive cutis laxa type IIIA
  • Aliases:
    • ARCL3A
    • De Barsy syndrome A
Mus musculus (house mouse)
DOID:0110825
  • hereditary spastic paraplegia 9B
  • Aliases:
    • SPG9B
    • autosomal recessive complex spastic paraplegia type 9B
    • autosomal recessive spastic paraplegia 9B
Mus musculus (house mouse)
DOID:0112283
  • spondyloepiphyseal dysplasia Kondo-Fu type
  • Aliases:
    • SED with elevated blood lysosomal enzymes
    • SEDKF
Mus musculus (house mouse)
DOID:769
  • neuroblastoma
Danio rerio (zebrafish)
DOID:0110722
  • neuronal ceroid lipofuscinosis 7
  • Aliases:
    • CLN7
Danio rerio (zebrafish)
DOID:0060257
  • dyschromatosis symmetrica hereditaria
  • Aliases:
    • reticulate acropigmentation of Dohi
Mus musculus (house mouse)
DOID:0050629
  • Aicardi-Goutieres syndrome
  • Aliases:
    • AGS
    • Cree encephalitis
Mus musculus (house mouse)
DOID:0080201
  • Peters plus syndrome
  • Aliases:
    • Krause-Kivlin syndrome
    • Peters anomaly-short limb dwarfism syndrome
    • Peters-plus syndrome
Danio rerio (zebrafish)
DOID:0111634
  • autosomal recessive nonsyndromic deafness 99
  • Aliases:
    • DFNB99
    • autosomal recessive deafness 99
Danio rerio (zebrafish)
DOID:0110336
  • osteogenesis imperfecta type 8
  • Aliases:
    • OI8
    • osteogenesis imperfecta type VIII
Mus musculus (house mouse)
DOID:0111240
  • congenital muscular dystrophy-dystroglycanopathy type A2
  • Aliases:
    • MDDGA2
    • Walker-Warburg syndrome or muscle-eye-brain disease, POMT2-related
    • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A2
Danio rerio (zebrafish)
DOID:0112380
  • muscular dystrophy-dystroglycanopathy type B2
  • Aliases:
    • MDDGB2
    • congenital muscular dystrophy POMT2-related
Danio rerio (zebrafish)
DOID:0110298
  • autosomal recessive limb-girdle muscular dystrophy type 2N
  • Aliases:
    • LGMD2N
    • muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2
    • muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related
Danio rerio (zebrafish)
DOID:0110274
  • autosomal recessive limb-girdle muscular dystrophy
Danio rerio (zebrafish)
DOID:0112374
  • muscular dystrophy-dystroglycanopathy
  • Aliases:
    • MDDG
Danio rerio (zebrafish)
DOID:0050453
  • lissencephaly
Danio rerio (zebrafish)
DOID:0110143
  • Bartter disease type 2
  • Aliases:
    • BARTS2
    • Bartter syndrome type 2
    • Bartter syndrome type 2 antenatal
    • hyperprostaglandin E syndrome 2
    • hypokalemic alkalosis with hypercalciuria 2 antenatal
Mus musculus (house mouse)
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Last updated: December 9, 2024