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 4226 - 4250 of 15957 in total
Disease ID Disease Name Gene Symbol ▼ Gene ID Organism Source
DOID:0050827
  • rheumatic heart disease
  • Aliases:
    • rheumatic carditis
Saccharomyces cerevisiae S288C
DOID:0060374
  • orofaciodigital syndrome IV
  • Aliases:
    • Baraitser-Burn syndrome
    • OFD4
Homo sapiens (human)
DOID:0110987
  • Joubert syndrome 18
  • Aliases:
    • JBTS18
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:0110982
  • Joubert syndrome 13
  • Aliases:
    • JBTS13
Homo sapiens (human)
DOID:0080789
  • Treacher Collins syndrome 1
Homo sapiens (human)
DOID:0081143
  • agammaglobulinemia 8B
Homo sapiens (human)
DOID:0081140
  • agammaglobulinemia 8A
Homo sapiens (human)
DOID:0080354
  • Phelan-McDermid syndrome
  • Aliases:
    • 22q13.3 deletion syndrome
    • monosomy 22q13 syndrome
Homo sapiens (human)
DOID:0112251
  • Ghosal hematodiaphyseal syndrome
  • Aliases:
    • Ghosal hematodiaphyseal dysplasia
    • Ghosal syndrome
    • diaphyseal dysplasia-anemia syndrome
Homo sapiens (human)
DOID:0112363
  • spondylocostal dysostosis 5
  • Aliases:
    • SCDO5
Homo sapiens (human)
DOID:0060614
  • ulnar-mammary syndrome
  • Aliases:
    • Pallister ulnar-mammary syndrome
    • Schinzel syndrome
Homo sapiens (human)
DOID:0070345
  • vertebral anomalies and variable endocrine and T-cell dysfunction
  • Aliases:
    • heterozygotes for TBX2 variants
Homo sapiens (human)
DOID:0050967
  • spinocerebellar ataxia type 17
Homo sapiens (human)
DOID:0111758
  • Y-linked deafness 2
  • Aliases:
    • DFNY2
Homo sapiens (human)
DOID:0111837
  • congenital nongoitrous hypothyroidism 8
  • Aliases:
    • CHNG8
Homo sapiens (human)
DOID:0050155
  • sensory system disease
Homo sapiens (human)
DOID:0080722
  • Kenny-Caffey syndrome type 1
Homo sapiens (human)
DOID:0070423
  • early onset progressive encephalopathy with brain atrophy and thin corpus callosum
  • Aliases:
    • PEBAT
    • early-onset progressive encephalopathy with brain atrophy and thin corpus callosum
Homo sapiens (human)
DOID:0070357
  • nephrotic syndrome type 20
Homo sapiens (human)
DOID:0111465
  • combined oxidative phosphorylation deficiency 21
  • Aliases:
    • COXPD21
Homo sapiens (human)
DOID:0111870
  • nonphotosensitive trichothiodystrophy 7
  • Aliases:
    • TTD7
Homo sapiens (human)
DOID:0111867
  • nonphotosensitive trichothiodystrophy
Homo sapiens (human)
DOID:0060201
  • amyotrophic lateral sclerosis type 10
  • Aliases:
    • ALS10
    • TARDBP-related frontotemporal lobar degeneration with TDP43 inclusions
    • amyotrophic lateral sclerosis 10
    • amyotrophic lateral sclerosis 10, with or without frontotemporal dementia
Homo sapiens (human)

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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