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 10001 - 10025 of 15957 in total
Disease ID Disease Name Gene Symbol ▲ Gene ID Organism Source
DOID:0111732
  • Eiken syndrome
  • Aliases:
    • Eiken skeletal dysplasia
    • bone modeling defect of hands and feet
Homo sapiens (human)
DOID:0080020
  • Jansen's metaphyseal chondrodysplasia
  • Aliases:
    • Jansen Disease
    • Jansen Metaphyseal Dysostosis
    • Jansen metaphyseal chondrodysplasia
    • Murk Jansen Type Metaphyseal Chondrodysplasia
Homo sapiens (human)
DOID:0060387
  • chondrodysplasia Blomstrand type
  • Aliases:
    • Blomstrand lethal chondrodysplasia
Homo sapiens (human)
DOID:0110976
  • brachydactyly type E2
  • Aliases:
    • BDE2
Homo sapiens (human)
DOID:0070486
  • Parkinson's disease 25
  • Aliases:
    • PARK25
    • autosomal recessive early-onset Parkinson disease 25 with impaired intellectual development
Homo sapiens (human)
DOID:0060578
  • Noonan syndrome 1
  • Aliases:
    • NS1
Homo sapiens (human)
DOID:0111512
  • metachondromatosis
  • Aliases:
    • METCDS
Homo sapiens (human)
DOID:0080548
  • Noonan syndrome with multiple lentigines 1
  • Aliases:
    • LEOPARD syndrome 1
Homo sapiens (human)
DOID:14291
  • Noonan syndrome with multiple lentigines
  • Aliases:
    • Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome
    • Generalized lentiginosis
    • Gorlin syndrome II
    • LEOPARD syndrome
    • Lentiginosis profusa syndrome
    • Moynahan syndrome
    • Multiple lentigines syndrome
    • Progressive cardiomyopathic lentiginosis
Homo sapiens (human)
DOID:2602
  • chondroma
  • Aliases:
    • central Chondroma
Homo sapiens (human)
DOID:0080384
  • nephrotic syndrome type 6
Homo sapiens (human)
DOID:0050153
  • pulmonary aspergilloma
Homo sapiens (human)
DOID:0111743
  • cerebellar ataxia type 47
  • Aliases:
    • SCA47
Saccharomyces cerevisiae S288C
DOID:0111743
  • cerebellar ataxia type 47
  • Aliases:
    • SCA47
Homo sapiens (human)
DOID:0081265
  • intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
  • Aliases:
    • IDDBAS
Homo sapiens (human)
DOID:905
  • Zellweger syndrome
  • Aliases:
    • cerebrohepatorenal syndrome
    • congenital iron overload
Saccharomyces cerevisiae S288C
DOID:0111066
  • congenital bile acid synthesis defect 5
  • Aliases:
    • CBAS5
Saccharomyces cerevisiae S288C
DOID:0080612
  • anterior segment dysgenesis 7
Homo sapiens (human)
DOID:2835
  • polycythemia due to hypoxia
Homo sapiens (human)
DOID:3649
  • pyruvate decarboxylase deficiency
  • Aliases:
    • deficiency of pyruvic dehydrogenase
    • pyruvate dehydrogenase complex deficiency disease
    • pyruvate dehydrogenase deficiency
Saccharomyces cerevisiae S288C
DOID:3651
  • pyruvate carboxylase deficiency disease
  • Aliases:
    • deficiency of pyruvic carboxylase
Saccharomyces cerevisiae S288C
DOID:0070137
  • autosomal recessive cutis laxa type IIB
  • Aliases:
    • ARCL2, progeroid type
    • ARCL2B
Homo sapiens (human)
DOID:0070138
  • autosomal recessive cutis laxa type IIIB
  • Aliases:
    • ARCL3B
    • De Barsy syndrome B
Homo sapiens (human)
DOID:0060788
  • hypomyelinating leukodystrophy 10
  • Aliases:
    • HLD10
Homo sapiens (human)
DOID:2754
  • glycogen storage disease VI
  • Aliases:
    • Glycogen storage disease 6
    • Hers' disease
    • glycogen storage disease type VI
    • hepatic glycogen phosphorylase deficiency
    • hepatophosphorylase deficiency glycogenosis
Homo sapiens (human)

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