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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 1201 - 1225 of 5716 in total
Disease ID ▲ Disease Name Gene Symbol Gene ID Organism Source
DOID:0070403
  • hypomyelinating leukodystrophy 26
  • Aliases:
    • HLD26
Homo sapiens (human)
DOID:0070405
  • hypomyelinating leukodystrophy 16
  • Aliases:
    • HLD16
Homo sapiens (human)
DOID:0070409
  • autosomal recessive spinocerebellar ataxia 28
  • Aliases:
    • SCAR28
Homo sapiens (human)
DOID:0070411
  • autosomal recessive spinocerebellar ataxia 30
  • Aliases:
    • SCAR30
Homo sapiens (human)
DOID:0070415
  • brachycephaly, trichomegaly, and developmental delay
  • Aliases:
    • BTDD
    • MCINS
    • Macinnes syndrome
Homo sapiens (human)
DOID:0070416
  • Luo-Schoch-Yamamoto syndrome
  • Aliases:
    • LUSYAM
Homo sapiens (human)
DOID:0070417
  • neurodevelopmental disorder with speech impairment and dysmorphic facies
  • Aliases:
    • NEDSID
Homo sapiens (human)
DOID:0070418
  • vertebral hypersegmentation and orofacial anomalies
  • Aliases:
    • VHO
Homo sapiens (human)
DOID:0070420
  • developmental delay, hypotonia, and impaired language
  • Aliases:
    • DEDHIL
Homo sapiens (human)
DOID:0070422
  • syndromic X-linked intellectual disability Pilorge type
  • Aliases:
    • MRXSP
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:0070425
  • combined oxidative phosphorylation deficiency 52
  • Aliases:
    • COXPD52
Homo sapiens (human)
DOID:0070430
  • combined oxidative phosphorylation deficiency 57
  • Aliases:
    • COXPD57
Homo sapiens (human)
DOID:0070432
  • hyperphosphatasia with impaired intellectual development syndrome 5
  • Aliases:
    • GPIBD11
    • HPMRS5
    • glycosylphosphatidylinositol biosynthesis defect 11
    • hyperphosphatasia with mental retardation syndrome 5
Homo sapiens (human)
DOID:0070433
  • hyperphosphatasia with impaired intellectual development syndrome 1
  • Aliases:
    • GPIBD2
    • HPMRS1
    • glycosylphosphatidylinositol biosynthesis defect 2
    • hyperphosphatasia with mental retardation syndrome 1
Homo sapiens (human)
DOID:0070434
  • hyperphosphatasia with impaired intellectual development syndrome 2
  • Aliases:
    • GPIBD6
    • HPMRS2
    • glycosylphosphatidylinositol biosynthesis defect 6
    • hyperphosphatasia with mental retardation syndrome 2
Homo sapiens (human)
DOID:0070435
  • hyperphosphatasia with impaired intellectual development syndrome 3
  • Aliases:
    • GPIBD8
    • HPMRS3
    • glycosylphosphatidylinositol biosynthesis defect 8
    • hyperphosphatasia with mental retardation syndrome 3
Homo sapiens (human)
DOID:0070436
  • hyperphosphatasia with impaired intellectual development syndrome 4
  • Aliases:
    • GPIBD62
    • HPMRS6
    • glycosylphosphatidylinositol biosynthesis defect 62
    • hyperphosphatasia with mental retardation syndrome 6
Homo sapiens (human)
DOID:0070437
  • hyperphosphatasia with impaired intellectual development syndrome 6
  • Aliases:
    • GPIBD40
    • HPMRS4
    • glycosylphosphatidylinositol biosynthesis defect 40
    • hyperphosphatasia with mental retardation syndrome 4
Homo sapiens (human)
DOID:0070441
  • retinal macular dystrophy 4
  • Aliases:
    • MCDR4
Homo sapiens (human)
DOID:0070442
  • paroxysmal nonkinesigenic dyskinesia 3
  • Aliases:
    • generalized epilepsy and paroxysmal dyskinesia
Homo sapiens (human)
DOID:0070443
  • neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
Homo sapiens (human)
DOID:0070444
  • neurodevelopmental disorder with language delay and seizures
Homo sapiens (human)
DOID:0070450
  • mitochondrial DNA depletion syndrome 19
Homo sapiens (human)
DOID:0070451
  • mitochondrial DNA depletion syndrome 20
  • Aliases:
    • mitochondrial DNA depletion syndrome 20 (MNGIE type)
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