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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 January 28, 2025
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 926 - 950 of 5716 in total
Disease ID ▲ Disease Name Gene Symbol Gene ID Organism Source
DOID:0060946
  • Ullrich congenital muscular dystrophy 1A
Homo sapiens (human)
DOID:0060948
  • Ullrich congenital muscular dystrophy 2
Homo sapiens (human)
DOID:0060949
  • 3-hydroxyisobutryl-CoA hydrolase deficiency
  • Aliases:
    • HIBCH deficiency
    • Methacrylic aciduria
    • Valine metabolic defect
Homo sapiens (human)
DOID:0060951
  • polycystic kidney disease 6
Homo sapiens (human)
DOID:0060952
  • polycystic kidney disease 7
Homo sapiens (human)
DOID:0060953
  • ZTTK syndrome
  • Aliases:
    • ZTTK MULTIPLE CONGENITAL ANOMALIES-MENTAL RETARDATION SYNDROME
    • Zhu-Tokita-Takenouchi-Kim syndrome
Homo sapiens (human)
DOID:0060956
  • dystonia 37, early-onset with striatal lesions
Homo sapiens (human)
DOID:0060958
  • orofaciodigital syndrome XIV
Homo sapiens (human)
DOID:0060959
  • orofaciodigital syndrome II
  • Aliases:
    • Mohr syndrome
    • Oral-facial-digital syndrome type 2
Homo sapiens (human)
DOID:0060965
  • episodic ataxia type 9
Homo sapiens (human)
DOID:0060969
  • galactosemia 4
  • Aliases:
    • GALM deficiency
    • Galactose mutarotase deficiency
    • Galactosemia type 4
Homo sapiens (human)
DOID:0060970
  • Cornelia de Lange syndrome 6
Homo sapiens (human)
DOID:0060971
  • interstitial lung disease 2
Homo sapiens (human)
DOID:0060973
  • WHIM syndrome 2
  • Aliases:
    • WARTS, HYPOGAMMAGLOBULINEMIA, INFECTIONS, AND MYELOKATHEXIS SYNDROME 2
Homo sapiens (human)
DOID:0060975
  • polycystic liver disease 2
  • Aliases:
    • POLYCYSTIC LIVER DISEASE 2 WITH OR WITHOUT KIDNEY CYSTS
Homo sapiens (human)
DOID:0060976
  • polycystic liver disease 3
Homo sapiens (human)
DOID:0060977
  • polycystic liver disease 4
Homo sapiens (human)
DOID:0060979
  • Fanconi anemia complementation group S
Homo sapiens (human)
DOID:0060980
  • polycystic liver disease 1
Homo sapiens (human)
DOID:0060983
  • sitosterolemia 2
Homo sapiens (human)
DOID:0060984
  • digenic dyskeratosis congenita
Homo sapiens (human)
DOID:0060985
  • preaxial polydactyly type IV
  • Aliases:
    • crossed polydactyly type 1
Homo sapiens (human)
DOID:0060986
  • preaxial polydactyly II
  • Aliases:
    • polydactyly of a triphalangeal thumb
Homo sapiens (human)
DOID:0060987
  • preaxial polydactyly I
Homo sapiens (human)
DOID:0060989
  • short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1
  • Aliases:
    • SSFSC1
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: April 6, 2026