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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 8751 - 8775 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▼ Source
DOID:0080722
  • Kenny-Caffey syndrome type 1
Homo sapiens (human)
DOID:0111876
  • linear skin defects with multiple congenital anomalies 3
  • Aliases:
    • LSDMCA3
    • linear skin defects with cardiomyopathy and other congenital anomalies
Homo sapiens (human)
DOID:12804
  • mucopolysaccharidosis IV
  • Aliases:
    • Mucopolysaccharidosis, MPS-IV
    • deficiency of N-acetylgalactosamine-6-sulphatase
    • deficiency of chondroitinsulphatase
    • galactosamine-6-sulfatase deficiency
Homo sapiens (human)
DOID:11211
  • buphthalmos
  • Aliases:
    • primary congenital glaucoma 3A
    • simple buphthalmos
Homo sapiens (human)
DOID:10939
  • antisocial personality disorder
  • Aliases:
    • Asocial personality
    • Dissocial personality disorder
    • Psychopath.personality
    • Psychopathic personality
    • Psychopathic personality disorder
    • sociopathic personality
Homo sapiens (human)
DOID:0050565
  • autosomal recessive nonsyndromic deafness
Homo sapiens (human)
DOID:0110285
  • autosomal recessive limb-girdle muscular dystrophy type 2Q
  • Aliases:
    • LGMD2Q
    • autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency
    • muscular dystrophy, limb-girdle, type 2Q
Homo sapiens (human)
DOID:0070390
  • developmental and epileptic encephalopathy 104
  • Aliases:
    • DEE104
    • early infantile epileptic encephalopathy 104
Homo sapiens (human)
DOID:0080222
  • pseudohypoparathyroidism type IB
Homo sapiens (human)
DOID:0050873
  • follicular lymphoma
Homo sapiens (human)
DOID:0070168
  • spermatogenic failure 3
  • Aliases:
    • SPGF3
Homo sapiens (human)
DOID:0050909
  • extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue
  • Aliases:
    • MALT lymphoma
    • MALT lymphoma of the dura
    • mucosa-associated lymphoid tissue lymphoma
Homo sapiens (human)
DOID:9955
  • hypoplastic left heart syndrome
Homo sapiens (human)
DOID:0050559
  • Fukuyama congenital muscular dystrophy
Homo sapiens (human)
DOID:0060832
  • Griscelli syndrome type 1
  • Aliases:
    • GS1
    • Griscelli syndrome with neurological impairment
    • Griscelli syndrome, cutaneous and neurological type
    • Griscelli-Prunieras syndrome type 1
    • hypopigmentation-neurologic impairment syndrome
Homo sapiens (human)
DOID:0080491
  • cerebral cavernous malformation 1
Homo sapiens (human)
DOID:653
  • purine-pyrimidine metabolic disorder
  • Aliases:
    • inborn errors of purine-pyrimidine metabolism
Homo sapiens (human)
DOID:0110213
  • isolated cleft palate
Homo sapiens (human)
DOID:1932
  • Angelman syndrome
  • Aliases:
    • happy puppet syndrome
    • puppetlike syndrome
Homo sapiens (human)
DOID:0111313
  • idiopathic generalized epilepsy 12
  • Aliases:
    • EIG12
Homo sapiens (human)
DOID:0110985
  • Joubert syndrome 16
  • Aliases:
    • JBTS16
Homo sapiens (human)
DOID:0080598
  • Kleefstra syndrome 2
Homo sapiens (human)
DOID:12842
  • Guillain-Barre syndrome
  • Aliases:
    • Infectious neuronitis
    • Post-infectious polyneuritis
    • Postinfectious polyneuritis
    • acute infective polyneuritis
    • acute inflammatory demyelinating polyradiculopathy
    • acute postinfectious polyneuropathy
Homo sapiens (human)
DOID:1875
  • impotence
  • Aliases:
    • Sexual impotence
    • erectile dysfunction
Homo sapiens (human)
DOID:1390
  • hypobetalipoproteinemia
  • Aliases:
    • Hypo-beta-lipoproteinemia
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: December 9, 2024