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 8076 - 8100 of 15957 in total
Disease ID ▼ Disease Name Gene Symbol Gene ID Organism Source
DOID:0111675
  • neurooculocardiogenitourinary syndrome
  • Aliases:
    • NOCGUS
Homo sapiens (human)
DOID:0111675
  • neurooculocardiogenitourinary syndrome
  • Aliases:
    • NOCGUS
Mus musculus (house mouse)
DOID:0111674
  • intellectual developmental disorder with short stature and behavioral abnormalities
  • Aliases:
    • IDDSSBA
Saccharomyces cerevisiae S288C
DOID:0111674
  • intellectual developmental disorder with short stature and behavioral abnormalities
  • Aliases:
    • IDDSSBA
Mus musculus (house mouse)
DOID:0111673
  • Saul-Wilson syndrome
  • Aliases:
    • SWILS
    • microcephalic osteodysplastic dysplasia, Saul-Wilson type
Homo sapiens (human)
DOID:0111673
  • Saul-Wilson syndrome
  • Aliases:
    • SWILS
    • microcephalic osteodysplastic dysplasia, Saul-Wilson type
Saccharomyces cerevisiae S288C
DOID:0111672
  • primary hyperoxaluria type 3
  • Aliases:
    • HP3
    • PH III
    • primary hyperoxaluria type III
Homo sapiens (human)
DOID:0111671
  • primary hyperoxaluria type 2
  • Aliases:
    • D-glycerate dehydrogenase deficiency
    • HP2
    • L-glyceric aciduria
    • glyoxylate reductase/hydroxypyruvate reductase deficiency
    • oxalosis II
Mus musculus (house mouse)
DOID:0111671
  • primary hyperoxaluria type 2
  • Aliases:
    • D-glycerate dehydrogenase deficiency
    • HP2
    • L-glyceric aciduria
    • glyoxylate reductase/hydroxypyruvate reductase deficiency
    • oxalosis II
Homo sapiens (human)
DOID:0111670
  • primary hyperoxaluria type 1
  • Aliases:
    • HP1
    • alanine-glyoxylate aminotransferase deficiency
    • glycolic aciduria
    • hepatic AGT deficiency
    • oxalosis I
    • peroxisomal alanine-glyoxylate aminotransferase deficiency
    • serine pyruvate aminotransferase deficiency
Homo sapiens (human)
DOID:0111669
  • hyaline fibromatosis syndrome
  • Aliases:
    • HFS
    • inherited systemic hyalinosis
    • puretic syndrome
    • systemic hyalinosis
Homo sapiens (human)
DOID:0111669
  • hyaline fibromatosis syndrome
  • Aliases:
    • HFS
    • inherited systemic hyalinosis
    • puretic syndrome
    • systemic hyalinosis
Mus musculus (house mouse)
DOID:0111668
  • Kohlschutter-Tonz syndrome
  • Aliases:
    • KTZS
    • Kohlschutter's syndrome
    • amelocerebrohypohidrotic syndrome
    • epilepsy and yellow teeth
    • epilepsy dementia amelogenesis imperfecta
    • epilepsy-dementia-amelogenesis imperfecta syndrome
Rattus norvegicus (Norway rat)
DOID:0111668
  • Kohlschutter-Tonz syndrome
  • Aliases:
    • KTZS
    • Kohlschutter's syndrome
    • amelocerebrohypohidrotic syndrome
    • epilepsy and yellow teeth
    • epilepsy dementia amelogenesis imperfecta
    • epilepsy-dementia-amelogenesis imperfecta syndrome
Saccharomyces cerevisiae S288C
DOID:0111668
  • Kohlschutter-Tonz syndrome
  • Aliases:
    • KTZS
    • Kohlschutter's syndrome
    • amelocerebrohypohidrotic syndrome
    • epilepsy and yellow teeth
    • epilepsy dementia amelogenesis imperfecta
    • epilepsy-dementia-amelogenesis imperfecta syndrome
Homo sapiens (human)
DOID:0111668
  • Kohlschutter-Tonz syndrome
  • Aliases:
    • KTZS
    • Kohlschutter's syndrome
    • amelocerebrohypohidrotic syndrome
    • epilepsy and yellow teeth
    • epilepsy dementia amelogenesis imperfecta
    • epilepsy-dementia-amelogenesis imperfecta syndrome
Mus musculus (house mouse)
DOID:0111667
  • enterokinase deficiency
  • Aliases:
    • congenital enterokinase deficiency
    • congenital enteropathy due to enteropeptidase deficiency
    • deficiency of enteropeptidase
Mus musculus (house mouse)
DOID:0111667
  • enterokinase deficiency
  • Aliases:
    • congenital enterokinase deficiency
    • congenital enteropathy due to enteropeptidase deficiency
    • deficiency of enteropeptidase
Caenorhabditis elegans
DOID:0111667
  • enterokinase deficiency
  • Aliases:
    • congenital enterokinase deficiency
    • congenital enteropathy due to enteropeptidase deficiency
    • deficiency of enteropeptidase
Homo sapiens (human)
DOID:0111666
  • proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome
  • Aliases:
    • EPV
    • Fowler syndrome
    • Fowler vasculopathy
    • PVHH
    • cerebral proliferative glomeruloid vasculopathy
    • encephaloclastic proliferative vasculopathy
    • hydranencephaly, Fowler type
    • hydrocephaly/hydranencephaly due to cerebral vasculopathy
    • proliferative vasculopathy and hydranencephaly/hydrocephaly
Rattus norvegicus (Norway rat)
DOID:0111666
  • proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome
  • Aliases:
    • EPV
    • Fowler syndrome
    • Fowler vasculopathy
    • PVHH
    • cerebral proliferative glomeruloid vasculopathy
    • encephaloclastic proliferative vasculopathy
    • hydranencephaly, Fowler type
    • hydrocephaly/hydranencephaly due to cerebral vasculopathy
    • proliferative vasculopathy and hydranencephaly/hydrocephaly
Mus musculus (house mouse)
DOID:0111666
  • proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome
  • Aliases:
    • EPV
    • Fowler syndrome
    • Fowler vasculopathy
    • PVHH
    • cerebral proliferative glomeruloid vasculopathy
    • encephaloclastic proliferative vasculopathy
    • hydranencephaly, Fowler type
    • hydrocephaly/hydranencephaly due to cerebral vasculopathy
    • proliferative vasculopathy and hydranencephaly/hydrocephaly
Danio rerio (zebrafish)
DOID:0111666
  • proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome
  • Aliases:
    • EPV
    • Fowler syndrome
    • Fowler vasculopathy
    • PVHH
    • cerebral proliferative glomeruloid vasculopathy
    • encephaloclastic proliferative vasculopathy
    • hydranencephaly, Fowler type
    • hydrocephaly/hydranencephaly due to cerebral vasculopathy
    • proliferative vasculopathy and hydranencephaly/hydrocephaly
Saccharomyces cerevisiae S288C
DOID:0111665
  • ectodermal dysplasia 10B
  • Aliases:
    • ECTD10B
    • ectodermal dysplasia 10B, hypohidrotic/hair/nail type, autosomal recessive
Mus musculus (house mouse)
DOID:0111665
  • ectodermal dysplasia 10B
  • Aliases:
    • ECTD10B
    • ectodermal dysplasia 10B, hypohidrotic/hair/nail type, autosomal recessive
Homo sapiens (human)
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