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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 11726 - 11750 of 15957 in total
Disease ID Disease Name Gene Symbol ▲ Gene ID Organism Source
DOID:0080789
  • Treacher Collins syndrome 1
Homo sapiens (human)
DOID:0110982
  • Joubert syndrome 13
  • Aliases:
    • JBTS13
Homo sapiens (human)
DOID:0070122
  • Meckel syndrome 8
  • Aliases:
    • MKS8
    • Meckel-Gruber syndrome, type 8
Homo sapiens (human)
DOID:0110993
  • Joubert syndrome 24
  • Aliases:
    • JBTS24
Homo sapiens (human)
DOID:0110987
  • Joubert syndrome 18
  • Aliases:
    • JBTS18
Homo sapiens (human)
DOID:0060374
  • orofaciodigital syndrome IV
  • Aliases:
    • Baraitser-Burn syndrome
    • OFD4
Homo sapiens (human)
DOID:0050866
  • oral squamous cell carcinoma
  • Aliases:
    • mouth squamous cell carcinoma
Saccharomyces cerevisiae S288C
DOID:0060108
  • brain glioma
  • Aliases:
    • lower grade glioma
Saccharomyces cerevisiae S288C
DOID:0050827
  • rheumatic heart disease
  • Aliases:
    • rheumatic carditis
Saccharomyces cerevisiae S288C
DOID:0090115
  • spinocerebellar ataxia with axonal neuropathy 1
  • Aliases:
    • SCAN1
    • autosomal recessive spinocerebellar ataxia with axonal neuropathy 1
    • spinocerebellar ataxia with axonal neuropathy type 1
Homo sapiens (human)
DOID:0110247
  • cataract 36
  • Aliases:
    • CATC4
    • CTRCT36
    • autosomal recessive congenital cataract 4
Homo sapiens (human)
DOID:0111913
  • spermatogenic failure 30
  • Aliases:
    • SPGF30
Homo sapiens (human)
DOID:0111228
  • Sveinsson chorioretinal atrophy
  • Aliases:
    • HPCD
    • SCRA
    • atrophia areata
    • helicoid peripapillary chorioretinal degeneration
    • peripapillary chorioretinal degeneration, Icelandic type
Homo sapiens (human)
DOID:0110801
  • hereditary spastic paraplegia 49
  • Aliases:
    • SPG49
    • autosomal recessive spastic paraplegia 49
    • autosomal recessive spastic paraplegia type 49
Homo sapiens (human)
DOID:0081188
  • autosomal recessive intellectual developmental disorder 14
Homo sapiens (human)
DOID:0050889
  • non-syndromic intellectual disability
Homo sapiens (human)
DOID:0110479
  • autosomal recessive nonsyndromic deafness 21
  • Aliases:
    • DFNB21
    • autosomal recessive deafness 21
Homo sapiens (human)
DOID:0110544
  • autosomal dominant nonsyndromic deafness 12
  • Aliases:
    • DFNA12
    • DFNA8
    • autosomal dominant deafness 12
    • autosomal dominant deafness 8
Homo sapiens (human)
DOID:12176
  • goiter
  • Aliases:
    • goitre
Homo sapiens (human)
DOID:0050792
  • multiple cutaneous and mucosal venous malformations
  • Aliases:
    • VMCM
    • cutaneomucosal venous malformation
    • mucocutaneous venous malformations
Homo sapiens (human)
DOID:0111432
  • essential tremor 5
  • Aliases:
    • ETM5
    • hereditary essential tremor 5
Homo sapiens (human)
DOID:0070016
  • autosomal dominant dyskeratosis congenita 2
  • Aliases:
    • DKCA2
Homo sapiens (human)
DOID:0050649
  • atransferrinemia
  • Aliases:
    • familial hypotransferrinemia
Homo sapiens (human)
DOID:0080337
  • mitochondrial DNA depletion syndrome 15
Homo sapiens (human)
DOID:12934
  • Kearns-Sayre syndrome
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