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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 12851 - 12875 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source ▼
DOID:0070480
  • schwannomatosis 1
  • Aliases:
    • SMARCB1-related schwannomatosis
    • SWN1
Homo sapiens (human)
DOID:0070478
  • diphthamide deficiency syndrome 2
  • Aliases:
    • DEDSSH2
    • developmental delay with short stature, dysmorphic facial features, and sparse hair 2
Homo sapiens (human)
DOID:0070478
  • diphthamide deficiency syndrome 2
  • Aliases:
    • DEDSSH2
    • developmental delay with short stature, dysmorphic facial features, and sparse hair 2
Mus musculus (house mouse)
DOID:0070476
  • diphthamide deficiency syndrome
  • Aliases:
    • DEDSSH
    • craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
    • developmental delay with short stature, dysmorphic facial features, and sparse hair
Mus musculus (house mouse)
DOID:0070476
  • diphthamide deficiency syndrome
  • Aliases:
    • DEDSSH
    • craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
    • developmental delay with short stature, dysmorphic facial features, and sparse hair
Homo sapiens (human)
DOID:0070474
  • childhood-onset neurodegeneration with brain atrophy
  • Aliases:
    • CONDBA
    • childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
Homo sapiens (human)
DOID:0070473
  • Zaki syndrome
Caenorhabditis elegans
DOID:0070473
  • Zaki syndrome
Drosophila melanogaster (fruit fly)
DOID:0070473
  • Zaki syndrome
Homo sapiens (human)
DOID:0070472
  • early-onset epilepsy 3
  • Aliases:
    • EPEO3
Homo sapiens (human)
DOID:0070471
  • early-onset epilepsy 2
  • Aliases:
    • EPEO2
Mus musculus (house mouse)
DOID:0070471
  • early-onset epilepsy 2
  • Aliases:
    • EPEO2
Homo sapiens (human)
DOID:0070469
  • neurodevelopmental disorder with dysmorphic facies and thin corpus callosum
  • Aliases:
    • NEDDFAC
Homo sapiens (human)
DOID:0070469
  • neurodevelopmental disorder with dysmorphic facies and thin corpus callosum
  • Aliases:
    • NEDDFAC
Mus musculus (house mouse)
DOID:0070468
  • Yoon-Bellen neurodevelopmental syndrome
  • Aliases:
    • YOBELN
Rattus norvegicus (Norway rat)
DOID:0070468
  • Yoon-Bellen neurodevelopmental syndrome
  • Aliases:
    • YOBELN
Mus musculus (house mouse)
DOID:0070468
  • Yoon-Bellen neurodevelopmental syndrome
  • Aliases:
    • YOBELN
Caenorhabditis elegans
DOID:0070468
  • Yoon-Bellen neurodevelopmental syndrome
  • Aliases:
    • YOBELN
Xenopus laevis (African clawed frog)
DOID:0070468
  • Yoon-Bellen neurodevelopmental syndrome
  • Aliases:
    • YOBELN
Homo sapiens (human)
DOID:0070467
  • carpal tunnel syndrome 2
  • Aliases:
    • CTS2
Mus musculus (house mouse)
DOID:0070467
  • carpal tunnel syndrome 2
  • Aliases:
    • CTS2
Homo sapiens (human)
DOID:0070467
  • carpal tunnel syndrome 2
  • Aliases:
    • CTS2
Rattus norvegicus (Norway rat)
DOID:0070467
  • carpal tunnel syndrome 2
  • Aliases:
    • CTS2
Drosophila melanogaster (fruit fly)
DOID:0070466
  • carpal tunnel syndrome 1
  • Aliases:
    • CTS1
Xenopus laevis (African clawed frog)
DOID:0070466
  • carpal tunnel syndrome 1
  • Aliases:
    • CTS1
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