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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 1901 - 1925 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism Source
DOID:0111633
  • congenital sucrase-isomaltase deficiency
  • Aliases:
    • CSID
    • SI deficiency
    • congenital sucrase-isomaltose malabsorption
    • congenital sucrose intolerance
    • disaccharide intolerance
Mus musculus (house mouse)
DOID:0080419
  • developmental and epileptic encephalopathy 50
  • Aliases:
    • CDG syndrome type Iz
    • CDG-Iz
    • Carbohydrate deficient glycoprotein syndrome type Iz
    • Congenital disorder of glycosylation type 1z
    • DEE50
    • early infantile epileptic encephalopathy 50
Mus musculus (house mouse)
DOID:0080785
  • Brown-Vialetto-Van Laere syndrome 1
Mus musculus (house mouse)
DOID:0080632
  • Fazio-Londe disease
  • Aliases:
    • riboflavin transporter deficiency neuronopathy
Mus musculus (house mouse)
DOID:0080612
  • anterior segment dysgenesis 7
Mus musculus (house mouse)
DOID:0070411
  • autosomal recessive spinocerebellar ataxia 30
  • Aliases:
    • SCAR30
Mus musculus (house mouse)
DOID:9277
  • primary cerebellar degeneration
Mus musculus (house mouse)
DOID:0060438
  • Cole-Carpenter syndrome
Mus musculus (house mouse)
DOID:0050977
  • spinocerebellar ataxia type 28
Mus musculus (house mouse)
DOID:0080840
  • optic atrophy 12
Mus musculus (house mouse)
DOID:0050952
  • spastic ataxia
Mus musculus (house mouse)
DOID:0050944
  • spastic ataxia 5
Mus musculus (house mouse)
DOID:0111027
  • hemochromatosis type 2A
  • Aliases:
    • HFE2A
Mus musculus (house mouse)
DOID:0112247
  • congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
  • Aliases:
    • CDK13-Related CHDFIDD
    • CDK13-Related Disorder
    • CHDFIDD
Mus musculus (house mouse)
DOID:0112249
  • GAPO syndrome
  • Aliases:
    • growth delay-alopecia-pseudoanodontia-optic atrophy syndrome
Mus musculus (house mouse)
DOID:14179
  • X-linked agammaglobulinemia
  • Aliases:
    • BTK deficiency
    • Bruton agammaglobulinemia tyrosine kinase deficiency
    • Bruton disease
    • Bruton's Sex-Linked Agammaglobulinemia
    • Bruton's agammaglobulinaemia
    • Bruton's type agammaglobulinemia
    • Bruton-type agammaglobulinemia
Homo sapiens (human)
DOID:0060875
  • isolated growth hormone deficiency type III
  • Aliases:
    • Fleisher syndrome
    • IGHD III
    • X-linked IGHD
    • X-linked agammaglobulinemia and isolated growth hormone deficiency
    • X-linked hypogammaglobulinemia and isolated growth hormone deficiency
    • X-linked isolated growth hormone deficiency
    • congenital IGHD type III
    • congenital isolated GH deficiency type III
    • congenital isolated growth hormone deficiency type III
    • growth hormone deficiency with hypogammaglobulinemia
Homo sapiens (human)
DOID:0080789
  • Treacher Collins syndrome 1
Homo sapiens (human)
DOID:2908
  • Treacher Collins syndrome
  • Aliases:
    • Franceschetti syndrome
    • mandibulofacial dysostosis
Homo sapiens (human)
DOID:0060835
  • isolated microphthalmia 6
  • Aliases:
    • MCOP6
    • posterior nonsyndromic microphthalmia
Mus musculus (house mouse)
DOID:0080354
  • Phelan-McDermid syndrome
  • Aliases:
    • 22q13.3 deletion syndrome
    • monosomy 22q13 syndrome
Homo sapiens (human)
DOID:0090070
  • hypogonadotropic hypogonadism
  • Aliases:
    • congenital idiopathic hypogonadotropic hypogonadism
    • hypogonadotropism
    • isolated congenital gonadotropin deficiency
Homo sapiens (human)
DOID:0110857
  • posterior polymorphous corneal dystrophy 3
  • Aliases:
    • Ppcd3
Homo sapiens (human)
DOID:0081143
  • agammaglobulinemia 8B
Homo sapiens (human)
DOID:0081140
  • agammaglobulinemia 8A
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 9, 2024