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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 11701 - 11725 of 15957 in total
Disease ID Disease Name Gene Symbol ▲ Gene ID Organism Source
DOID:0090057
  • X-linked dystonia-parkinsonism
Saccharomyces cerevisiae S288C
DOID:0081205
  • autosomal recessive intellectual developmental disorder 40
Homo sapiens (human)
DOID:0070182
  • spermatogenic failure 13
  • Aliases:
    • SPGF13
Homo sapiens (human)
DOID:14228
  • oligospermia
Homo sapiens (human)
DOID:0081430
  • intellectual developmental disorder with autistic features and language delay, with or without seizures
  • Aliases:
    • IDDALDS
Homo sapiens (human)
DOID:0081386
  • TANGO2-related metabolic encephalopathy and arrythmias
  • Aliases:
    • TANGO2 deficiency
    • metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration
Homo sapiens (human)
DOID:0060009
  • MHC class I deficiency
  • Aliases:
    • BLS, TYPE I
    • BLSI
    • HLA CLASS I DEFICIENCY
    • bare lymphocyte syndrome type I
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)
DOID:0111867
  • nonphotosensitive trichothiodystrophy
Homo sapiens (human)
DOID:0111870
  • nonphotosensitive trichothiodystrophy 7
  • Aliases:
    • TTD7
Homo sapiens (human)
DOID:0111465
  • combined oxidative phosphorylation deficiency 21
  • Aliases:
    • COXPD21
Homo sapiens (human)
DOID:0070357
  • nephrotic syndrome type 20
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:0080722
  • Kenny-Caffey syndrome type 1
Homo sapiens (human)
DOID:0050155
  • sensory system disease
Homo sapiens (human)
DOID:0111837
  • congenital nongoitrous hypothyroidism 8
  • Aliases:
    • CHNG8
Homo sapiens (human)
DOID:0111758
  • Y-linked deafness 2
  • Aliases:
    • DFNY2
Homo sapiens (human)
DOID:0050967
  • spinocerebellar ataxia type 17
Homo sapiens (human)
DOID:0070345
  • vertebral anomalies and variable endocrine and T-cell dysfunction
  • Aliases:
    • heterozygotes for TBX2 variants
Homo sapiens (human)
DOID:0060614
  • ulnar-mammary syndrome
  • Aliases:
    • Pallister ulnar-mammary syndrome
    • Schinzel syndrome
Homo sapiens (human)
DOID:0112363
  • spondylocostal dysostosis 5
  • Aliases:
    • SCDO5
Homo sapiens (human)
DOID:0112251
  • Ghosal hematodiaphyseal syndrome
  • Aliases:
    • Ghosal hematodiaphyseal dysplasia
    • Ghosal syndrome
    • diaphyseal dysplasia-anemia syndrome
Homo sapiens (human)
DOID:0080354
  • Phelan-McDermid syndrome
  • Aliases:
    • 22q13.3 deletion syndrome
    • monosomy 22q13 syndrome
Homo sapiens (human)
DOID:0081143
  • agammaglobulinemia 8B
Homo sapiens (human)
DOID:0081140
  • agammaglobulinemia 8A
Homo sapiens (human)
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

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