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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 January 28, 2025
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 1226 - 1250 of 5716 in total
Disease ID ▲ Disease Name Gene Symbol Gene ID Organism Source
DOID:0070453
  • xanthinuria type II
  • Aliases:
    • XAN2
Homo sapiens (human)
DOID:0070454
  • hereditary spastic paraplegia 70
  • Aliases:
    • SPG70
    • autosomal recessive spastic paraplegia 70
Homo sapiens (human)
DOID:0070456
  • hereditary spastic paraplegia 87
  • Aliases:
    • SPG87
    • autosomal recessive spastic paraplegia 87
Homo sapiens (human)
DOID:0070459
  • hereditary spastic paraplegia 90A
  • Aliases:
    • SPG90A
    • autosomal dominant spastic paraplegia 90A
Homo sapiens (human)
DOID:0070460
  • hereditary spastic paraplegia 90B
  • Aliases:
    • SPG90B
    • autosomal recessive spastic paraplegia 90B
Homo sapiens (human)
DOID:0070461
  • mitochondrial complex V (ATP synthase) deficiency nuclear type 4A
  • Aliases:
    • MC5DN4A
Homo sapiens (human)
DOID:0070462
  • mitochondrial complex V (ATP synthase) deficiency nuclear type 4B
  • Aliases:
    • MC5DN4B
Homo sapiens (human)
DOID:0070466
  • carpal tunnel syndrome 1
  • Aliases:
    • CTS1
Homo sapiens (human)
DOID:0070467
  • carpal tunnel syndrome 2
  • Aliases:
    • CTS2
Homo sapiens (human)
DOID:0070468
  • Yoon-Bellen neurodevelopmental syndrome
  • Aliases:
    • YOBELN
Homo sapiens (human)
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:0070472
  • early-onset epilepsy 3
  • Aliases:
    • EPEO3
Homo sapiens (human)
DOID:0070473
  • Zaki syndrome
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:0070478
  • diphthamide deficiency syndrome 2
  • Aliases:
    • DEDSSH2
    • developmental delay with short stature, dysmorphic facial features, and sparse hair 2
Homo sapiens (human)
DOID:0070480
  • schwannomatosis 1
  • Aliases:
    • SMARCB1-related schwannomatosis
    • SWN1
Homo sapiens (human)
DOID:0070482
  • spinal neurofibromatosis
  • Aliases:
    • FNSF
    • SNF
    • familial spinal neurofibromatosis
Homo sapiens (human)
DOID:0070483
  • Watson syndrome
Homo sapiens (human)
DOID:0070484
  • Legius syndrome
  • Aliases:
    • LGSS
    • NF1-like syndrome
    • neurofibromatosis type 1-like syndrome
Homo sapiens (human)
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
Homo sapiens (human)
DOID:0070489
  • classic dopamine transporter deficiency syndrome
  • Aliases:
    • PKDYS1
    • classic DTDS
    • infantile parkinsonism-dystonia 1
Drosophila melanogaster (fruit fly)
DOID:0070489
  • classic dopamine transporter deficiency syndrome
  • Aliases:
    • PKDYS1
    • classic DTDS
    • infantile parkinsonism-dystonia 1
Homo sapiens (human)
DOID:0070490
  • infantile parkinsonism-dystonia 2
  • Aliases:
    • Brain dopamine-serotonin vesicular transport disease
    • PKDYS2
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 8, 2025