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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 13651 - 13675 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism Source
DOID:0070294
  • primary autosomal recessive microcephaly 10
  • Aliases:
    • MCPH10
Homo sapiens (human)
DOID:6652
  • diffuse idiopathic skeletal hyperostosis
  • Aliases:
    • Ankylosing vertebral hyperostosis
    • DISH
    • Disseminated idiopathic skeletal hyperostosis
Mus musculus (house mouse)
DOID:0081157
  • dilated cardiomyopathy 1LL
Homo sapiens (human)
DOID:0090052
  • dystonia 24
Homo sapiens (human)
DOID:0110661
  • congenital myasthenic syndrome 20
  • Aliases:
    • CMS20
    • congenital myasthenic syndrome 20 presynaptic
Mus musculus (house mouse)
DOID:0111199
  • autosomal dominant distal hereditary motor neuronopathy 7
  • Aliases:
    • DHMN7A
    • DHMNVPy
    • HMN VIIA
    • HMN7A
    • Harper-Young myopath
    • dHMN7
    • distal hereditary motor neuronopathy type 7
    • distal hereditary motor neuropathy type VIIA
    • distal spinal muscular atrophy with vocal cord paralysis
    • distal spinal muscular atrophy with vocal cord paralysis type 7A
Mus musculus (house mouse)
DOID:6652
  • diffuse idiopathic skeletal hyperostosis
  • Aliases:
    • Ankylosing vertebral hyperostosis
    • DISH
    • Disseminated idiopathic skeletal hyperostosis
Rattus norvegicus (Norway rat)
DOID:0070249
  • autosomal dominant Emery-Dreifuss muscular dystrophy 4
  • Aliases:
    • EDMD4
    • Emery-Dreifuss muscular dystrophy 4 with variable features
    • Emery-Dreifuss muscular dystrophy 4, autosomal dominant
Mus musculus (house mouse)
DOID:0080954
  • arthrogryposis multiplex congenita
Mus musculus (house mouse)
DOID:0080979
  • arthrogryposis multiplex congenita-3
Mus musculus (house mouse)
DOID:0111618
  • autosomal recessive spinocerebellar ataxia 8
  • Aliases:
    • ARCA1
    • Autosomal recessive cerebellar ataxia type 1
    • SCAR8
    • SYNE1-related autosomal recessive cerebellar ataxia
    • autosomal recessive ataxia, Beauce type
    • recessive ataxia of Beauce
Mus musculus (house mouse)
DOID:0110794
  • hereditary spastic paraplegia 42
  • Aliases:
    • SPG42
    • autosomal dominant spastic paraplegia 42
    • autosomal dominant spastic paraplegia type 42
Rattus norvegicus (Norway rat)
DOID:0060575
  • 3MC syndrome 1
Rattus norvegicus (Norway rat)
DOID:3650
  • lactic acidosis
Rattus norvegicus (Norway rat)
DOID:2754
  • glycogen storage disease VI
  • Aliases:
    • Glycogen storage disease 6
    • Hers' disease
    • glycogen storage disease type VI
    • hepatic glycogen phosphorylase deficiency
    • hepatophosphorylase deficiency glycogenosis
Rattus norvegicus (Norway rat)
DOID:0110831
  • Usher syndrome type 1D
  • Aliases:
    • USH1D
    • Usher syndrome type ID
Homo sapiens (human)
DOID:0110467
  • autosomal recessive nonsyndromic deafness 12
  • Aliases:
    • DFNB12
    • autosomal recessive deafness 12
Homo sapiens (human)
DOID:0112008
  • pituitary adenoma 5
  • Aliases:
    • PITA5
    • pituitary adenoma 5, multiple types
Homo sapiens (human)
DOID:0060861
  • microphthalmia with limb anomalies
  • Aliases:
    • MLA
    • OAS
    • Waardenburg anophthalmia syndrome
    • anophthalmia-syndactyly syndrome
    • ophthalmoacromelic syndrome
Mus musculus (house mouse)
DOID:0060861
  • microphthalmia with limb anomalies
  • Aliases:
    • MLA
    • OAS
    • Waardenburg anophthalmia syndrome
    • anophthalmia-syndactyly syndrome
    • ophthalmoacromelic syndrome
Homo sapiens (human)
DOID:2717
  • Bloom syndrome
  • Aliases:
    • Bloom-Torre-Machacek syndrome
    • Congenital Telangiectatic Erythema syndrome
Homo sapiens (human)
DOID:0070266
  • congenital disorder of glycosylation type IIn
  • Aliases:
    • CDG IIn
    • CDG syndrome type IIn
    • CDG2N
    • CDGIIdn
    • Carbohydrate deficient glycoprotein syndrome type IIn
    • Congenital disorder of glycosylation type 2n
    • SLC39A8-CDG
Homo sapiens (human)
DOID:0050678
  • Blau syndrome
  • Aliases:
    • ARTHROCUTANEOUVEAL GRANULOMATOSIS
    • BLAUS
    • Jabs syndrome
Homo sapiens (human)
DOID:0110892
  • inflammatory bowel disease 1
  • Aliases:
    • IBD1
Homo sapiens (human)
DOID:0080762
  • autosomal recessive limb-girdle muscular dystrophy type 2Z
  • Aliases:
    • limb-girdle muscular dystrophy 21
Danio rerio (zebrafish)
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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: December 9, 2024