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
Guidelines
MIRAGE
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 2876 - 2900 of 4649 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▼ Source
DOID:3748
  • esophagus squamous cell carcinoma
  • Aliases:
    • SCC of esophagus
    • SCC of oesophagus
    • oesophagus squamous cell carcinoma
Homo sapiens (human)
DOID:12800
  • mucopolysaccharidosis VI
  • Aliases:
    • MPS VI - Maroteaux-Lamy syndrome
    • Maroteaux - Lamy syndrome
    • Maroteaux-Lamy syndrome
    • arylsulfatase B deficiency
    • deficiency of N-acetylgalactosamine-4-sulfatase
Homo sapiens (human)
DOID:0050460
  • Wolf-Hirschhorn syndrome
  • Aliases:
    • 4p deletion syndrome
    • PITT SYNDROME
    • Pitt-Rogers-Danks Syndrome
    • chromosome 4p16.3 deletion syndrome
Homo sapiens (human)
DOID:0112133
  • severe congenital neutropenia 3
  • Aliases:
    • Kostmann disease
    • Kostmann syndrome
    • SCN3
    • infantile agranulocytosis
Homo sapiens (human)
DOID:1920
  • hyperuricemia
  • Aliases:
    • Blood urate raized
    • uricacidemia
Homo sapiens (human)
DOID:0111956
  • immunodeficiency 27B
  • Aliases:
    • IMD27B
    • autosomal dominant IFNGR1 deficiency
    • autosomal dominant MSMD due to partial IFNgammaR1 deficiency
    • autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency
    • autosomal dominant immunodeficiency 27B, mycobacteriosis
    • autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
    • autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency
Homo sapiens (human)
DOID:0080345
  • blepharocheilodontic syndrome 1
Homo sapiens (human)
DOID:3362
  • coronary aneurysm
  • Aliases:
    • Aneurysm of coronary vessels
    • Aneurysmal lesion of coronary artery
    • Arteriovenous aneurysm of coronary vessels
Homo sapiens (human)
DOID:0090001
  • Fraser syndrome
  • Aliases:
    • cryptophthalmos with other malformations
Homo sapiens (human)
DOID:0060777
  • congenital secretory sodium diarrhea 8
  • Aliases:
    • DIAR8
Homo sapiens (human)
DOID:0070222
  • progressive familial intrahepatic cholestasis 2
  • Aliases:
    • BSEP deficiency
    • PFIC2
Homo sapiens (human)
DOID:0080232
  • autosomal dominant intellectual developmental disorder 51
  • Aliases:
    • autosomal dominant mental retardation 51
Homo sapiens (human)
DOID:0080233
  • autosomal dominant intellectual developmental disorder 50
  • Aliases:
    • autosomal dominant intellectual developmental disorder-50 with behavioral abnormalities
    • autosomal dominant mental retardation 50
Homo sapiens (human)
DOID:2732
  • Rothmund-Thomson syndrome
  • Aliases:
    • Congenital poikiloderma
    • RTS
Homo sapiens (human)
DOID:0070187
  • Y-linked spermatogenic failure 2
  • Aliases:
    • SPGFY2
    • nonobstructive Y-linked spermatogenic failure
Homo sapiens (human)
DOID:0110964
  • brachydactyly type A1
  • Aliases:
    • BDA1
    • Farabee type brachydactyly
Homo sapiens (human)
DOID:0060589
  • Yunis-Varon syndrome
  • Aliases:
    • cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia
    • cleidocranial dysplasia-micrognathia-absent thumbs syndrome
Homo sapiens (human)
DOID:0081182
  • autosomal recessive intellectual developmental disorder 6
Homo sapiens (human)
DOID:0060536
  • mitochondrial complex I deficiency
  • Aliases:
    • isolated NADH-CoQ reductase deficiency
    • isolated NADH-coenzyme Q reductase deficiency
    • isolated NADH-ubiquinone reductase deficiency
    • isolated mitochondrial respiratory chain complex I deficiency
Homo sapiens (human)
DOID:557
  • kidney disease
  • Aliases:
    • impaired renal function disease
    • nephropathy
Homo sapiens (human)
DOID:0070182
  • spermatogenic failure 13
  • Aliases:
    • SPGF13
Homo sapiens (human)
DOID:0050676
  • Birt-Hogg-Dube syndrome
Homo sapiens (human)
DOID:6088
  • acute stress disorder
  • Aliases:
    • traumatic stress disorder
Homo sapiens (human)
DOID:8619
  • recurrent hypersomnia
  • Aliases:
    • primary recurrent hypersomnia
Homo sapiens (human)
DOID:0111706
  • oblique facial clefting 1
  • Aliases:
    • Tessier number 4 facial cleft
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 v4.1.1

Last updated: February 17, 2025