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 7651 - 7675 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source ▼
DOID:0112133
  • severe congenital neutropenia 3
  • Aliases:
    • Kostmann disease
    • Kostmann syndrome
    • SCN3
    • infantile agranulocytosis
Homo sapiens (human)
DOID:0112129
  • severe congenital neutropenia 7
  • Aliases:
    • SCN7
    • autosomal recessive severe congenital neutropenia due to CSF3R deficiency
Mus musculus (house mouse)
DOID:0112129
  • severe congenital neutropenia 7
  • Aliases:
    • SCN7
    • autosomal recessive severe congenital neutropenia due to CSF3R deficiency
Homo sapiens (human)
DOID:0112128
  • X-linked severe congenital neutropenia
  • Aliases:
    • SCNX
    • XLN
Saccharomyces cerevisiae S288C
DOID:0112127
  • HRPT-related hyperuricemia
  • Aliases:
    • HPRT deficiency, grade I
    • HPRT partial deficiency
    • HPRT-related gout
    • HPRT-related hyperuricemia
    • HPRT1 partial deficiency
    • Kelley-Seegmiller syndrome
    • hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency
    • hypoxanthine guanine phosphoribosyltransferase deficiency, grade I
    • hypoxanthine guanine phosphoribosyltransferase partial deficiency
Mus musculus (house mouse)
DOID:0112127
  • HRPT-related hyperuricemia
  • Aliases:
    • HPRT deficiency, grade I
    • HPRT partial deficiency
    • HPRT-related gout
    • HPRT-related hyperuricemia
    • HPRT1 partial deficiency
    • Kelley-Seegmiller syndrome
    • hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency
    • hypoxanthine guanine phosphoribosyltransferase deficiency, grade I
    • hypoxanthine guanine phosphoribosyltransferase partial deficiency
Rattus norvegicus (Norway rat)
DOID:0112127
  • HRPT-related hyperuricemia
  • Aliases:
    • HPRT deficiency, grade I
    • HPRT partial deficiency
    • HPRT-related gout
    • HPRT-related hyperuricemia
    • HPRT1 partial deficiency
    • Kelley-Seegmiller syndrome
    • hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency
    • hypoxanthine guanine phosphoribosyltransferase deficiency, grade I
    • hypoxanthine guanine phosphoribosyltransferase partial deficiency
Homo sapiens (human)
DOID:0112125
  • alpha-thalassemia myelodysplasia syndrome
  • Aliases:
    • ATMDS
    • acquired HbH disease
    • acquired hemoglobin H disease
    • alpha-thalassemia-myelodysplastic syndrome
Homo sapiens (human)
DOID:0112125
  • alpha-thalassemia myelodysplasia syndrome
  • Aliases:
    • ATMDS
    • acquired HbH disease
    • acquired hemoglobin H disease
    • alpha-thalassemia-myelodysplastic syndrome
Mus musculus (house mouse)
DOID:0112124
  • X-linked retinitis pigmentosa and sinorespiratory infections
  • Aliases:
    • primary ciliary dyskinesia-retinitis pigmentosa syndrome
Mus musculus (house mouse)
DOID:0112122
  • X-linked epilepsy with variable learning disabilities and behavior disorders
  • Aliases:
    • X-linked epilepsy-learning disabilities-behavior disorders syndrome
Homo sapiens (human)
DOID:0112122
  • X-linked epilepsy with variable learning disabilities and behavior disorders
  • Aliases:
    • X-linked epilepsy-learning disabilities-behavior disorders syndrome
Drosophila melanogaster (fruit fly)
DOID:0112122
  • X-linked epilepsy with variable learning disabilities and behavior disorders
  • Aliases:
    • X-linked epilepsy-learning disabilities-behavior disorders syndrome
Mus musculus (house mouse)
DOID:0112122
  • X-linked epilepsy with variable learning disabilities and behavior disorders
  • Aliases:
    • X-linked epilepsy-learning disabilities-behavior disorders syndrome
Rattus norvegicus (Norway rat)
DOID:0112121
  • nephrogenic syndrome of inappropriate antidiuresis
  • Aliases:
    • NSIAD
Mus musculus (house mouse)
DOID:0112121
  • nephrogenic syndrome of inappropriate antidiuresis
  • Aliases:
    • NSIAD
Caenorhabditis elegans
DOID:0112121
  • nephrogenic syndrome of inappropriate antidiuresis
  • Aliases:
    • NSIAD
Rattus norvegicus (Norway rat)
DOID:0112121
  • nephrogenic syndrome of inappropriate antidiuresis
  • Aliases:
    • NSIAD
Homo sapiens (human)
DOID:0112115
  • combined oxidative phosphorylation deficiency 46
  • Aliases:
    • COXPD46
Homo sapiens (human)
DOID:0112113
  • combined oxidative phosphorylation deficiency 45
  • Aliases:
    • COXPD45
Saccharomyces cerevisiae S288C
DOID:0112108
  • myofibrillar myopathy 10
  • Aliases:
    • MFM10
Mus musculus (house mouse)
DOID:0112108
  • myofibrillar myopathy 10
  • Aliases:
    • MFM10
Homo sapiens (human)
DOID:0112106
  • chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia
  • Aliases:
    • X-linked dominant chondrodysplasia, Chassaing-Lacombe type
    • X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome
Mus musculus (house mouse)
DOID:0112106
  • chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia
  • Aliases:
    • X-linked dominant chondrodysplasia, Chassaing-Lacombe type
    • X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome
Homo sapiens (human)
DOID:0112105
  • X-linked parkinsonism-spasticity syndrome
  • Aliases:
    • X-linked Parkinsonism with spasticity
    • XPDS
Drosophila melanogaster (fruit fly)
Download data in CSV format Download data in TSV format Download data in JSON format
About Release Notes Help Feedback

Click here to visit the beta site.

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