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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 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
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
Homo sapiens (human)
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
Rattus norvegicus (Norway rat)
DOID:0112121
  • nephrogenic syndrome of inappropriate antidiuresis
  • Aliases:
    • NSIAD
Caenorhabditis elegans
DOID:0112121
  • nephrogenic syndrome of inappropriate antidiuresis
  • Aliases:
    • NSIAD
Mus musculus (house mouse)
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
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:0112105
  • X-linked parkinsonism-spasticity syndrome
  • Aliases:
    • X-linked Parkinsonism with spasticity
    • XPDS
Drosophila melanogaster (fruit fly)
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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