Table Filtering
Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
Resources Genes Glycoproteins Lectins Glycolipids Glycans Pathways Diseases Organisms
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Other Information
Release Statistics Download
Tools
SugarDrawer GlycanBuilder Glycan Converters GlycoMaple GlycomeAtlas LM-GlycomeAtlas GALAXY MCAW GlycoSim GRable
Search Tools
Cross Search Glycan Search Publication Search Programmatic Access
Standards Ontologies Notations
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 951 - 975 of 4649 in total
Disease ID ▲ Disease Name Gene Symbol Gene ID Organism Source
DOID:0070396
  • progressive leukoencephalopathy with ovarian failure
Homo sapiens (human)
DOID:0070397
  • hypomyelinating leukodystrophy 23
  • Aliases:
    • HLD23
Homo sapiens (human)
DOID:0070398
  • hypomyelinating leukodystrophy 15
  • Aliases:
    • HLD15
Homo sapiens (human)
DOID:0070399
  • hypomyelinating leukodystrophy 18
  • Aliases:
    • HLD18
Homo sapiens (human)
DOID:0070400
  • hypomyelinating leukodystrophy 19
  • Aliases:
    • HLD19
Homo sapiens (human)
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)
Download data in CSV format Download data in TSV format Download data in JSON format
About Release Notes Help Feedback
International Collaboration

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

Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International

GlyCosmos Portal v4.1.0

Last updated: December 9, 2024