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 3126 - 3150 of 15957 in total
Disease ID ▲ Disease Name Gene Symbol Gene ID Organism Source
DOID:0070468
  • Yoon-Bellen neurodevelopmental syndrome
  • Aliases:
    • YOBELN
Xenopus laevis (African clawed frog)
DOID:0070468
  • Yoon-Bellen neurodevelopmental syndrome
  • Aliases:
    • YOBELN
Caenorhabditis elegans
DOID:0070469
  • neurodevelopmental disorder with dysmorphic facies and thin corpus callosum
  • Aliases:
    • NEDDFAC
Mus musculus (house mouse)
DOID:0070469
  • neurodevelopmental disorder with dysmorphic facies and thin corpus callosum
  • Aliases:
    • NEDDFAC
Homo sapiens (human)
DOID:0070471
  • early-onset epilepsy 2
  • Aliases:
    • EPEO2
Homo sapiens (human)
DOID:0070471
  • early-onset epilepsy 2
  • Aliases:
    • EPEO2
Mus musculus (house mouse)
DOID:0070472
  • early-onset epilepsy 3
  • Aliases:
    • EPEO3
Homo sapiens (human)
DOID:0070473
  • Zaki syndrome
Homo sapiens (human)
DOID:0070473
  • Zaki syndrome
Caenorhabditis elegans
DOID:0070473
  • Zaki syndrome
Drosophila melanogaster (fruit fly)
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: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: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: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:0070480
  • schwannomatosis 1
  • Aliases:
    • SMARCB1-related schwannomatosis
    • SWN1
Homo sapiens (human)
DOID:0070480
  • schwannomatosis 1
  • Aliases:
    • SMARCB1-related schwannomatosis
    • SWN1
Saccharomyces cerevisiae S288C
DOID:0070482
  • spinal neurofibromatosis
  • Aliases:
    • FNSF
    • SNF
    • familial spinal neurofibromatosis
Homo sapiens (human)
DOID:0070482
  • spinal neurofibromatosis
  • Aliases:
    • FNSF
    • SNF
    • familial spinal neurofibromatosis
Mus musculus (house mouse)
DOID:0070483
  • Watson syndrome
Homo sapiens (human)
DOID:0070483
  • Watson syndrome
Mus musculus (house mouse)
DOID:0070484
  • Legius syndrome
  • Aliases:
    • LGSS
    • NF1-like syndrome
    • neurofibromatosis type 1-like syndrome
Homo sapiens (human)
DOID:0070484
  • Legius syndrome
  • Aliases:
    • LGSS
    • NF1-like syndrome
    • neurofibromatosis type 1-like syndrome
Mus musculus (house mouse)
DOID:0070485
  • mitochondrial complex IV deficiency nuclear type 23
  • Aliases:
    • MC4DN23
Homo sapiens (human)
DOID:0070486
  • Parkinson's disease 25
  • Aliases:
    • PARK25
    • autosomal recessive early-onset Parkinson disease 25 with impaired intellectual development
Mus musculus (house mouse)

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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