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 15701 - 15725 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism Source
DOID:0110013
  • advanced sleep phase syndrome 3
  • Aliases:
    • FASPS3
    • familial advanced sleep phase syndrome 3
Homo sapiens (human)
DOID:0110011
  • advanced sleep phase syndrome 1
  • Aliases:
    • FASPS1
    • familial advanced sleep phase syndrome 1
Homo sapiens (human)
DOID:0080464
  • developmental and epileptic encephalopathy 53
  • Aliases:
    • DEE53
    • early infantile epileptic encephalopathy 53
Homo sapiens (human)
DOID:0060898
  • Parkinson's disease 20
  • Aliases:
    • early-onset Parkinson disease 20
    • early-onset Parkinson's disease 20
Homo sapiens (human)
DOID:0060470
  • salt and pepper syndrome
  • Aliases:
    • salt & pepper syndrome
    • salt-and-pepper syndrome
Homo sapiens (human)
DOID:0081366
  • Paget's disease of bone 3
  • Aliases:
    • Paget disease of bone-3
Homo sapiens (human)
DOID:0110068
  • frontotemporal dementia and/or amyotrophic lateral sclerosis 3
  • Aliases:
    • FTDALS3
Homo sapiens (human)
DOID:0081363
  • distal myopathy with rimmed vacuoles
Homo sapiens (human)
DOID:0081364
  • neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
Homo sapiens (human)
DOID:0080265
  • nephrotic syndrome type 14
Homo sapiens (human)
DOID:0070371
  • leukoencephalopathy with vanishing white matter 4
Homo sapiens (human)
DOID:0110191
  • Charcot-Marie-Tooth disease type 4B1
  • Aliases:
    • CMT4B1
    • Charcot-Marie-Tooth neuropathy type 4B1
    • autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B1
Homo sapiens (human)
DOID:0090034
  • myoclonic dystonia 11
Homo sapiens (human)
DOID:0111742
  • cerebellar ataxia type 42
  • Aliases:
    • SCA42
Homo sapiens (human)
DOID:0081203
  • autosomal recessive intellectual developmental disorder 38
Homo sapiens (human)
DOID:0060341
  • agnathia-otocephaly complex
  • Aliases:
    • agnathia-holoprosencephaly-situs inversus syndrome
    • dysgnathia complex agnathia-holoprosencephaly
    • holoprosencephaly-agnathia
    • otocephaly
Homo sapiens (human)
DOID:9169
  • Wiskott-Aldrich syndrome
  • Aliases:
    • Wiskott syndrome
Homo sapiens (human)
DOID:0070338
  • cerebellar hypoplasia
Homo sapiens (human)
DOID:0080019
  • metaphyseal dysplasia
  • Aliases:
    • Bakwin-Krida syndrome
    • Pyle's disease
    • Pyle-Cohn syndrome
Rattus norvegicus (Norway rat)
DOID:0050876
  • Caroli disease
Rattus norvegicus (Norway rat)
DOID:3247
  • rhabdomyosarcoma
Rattus norvegicus (Norway rat)
DOID:649
  • prion disease
  • Aliases:
    • Prion disease pathway
    • Prion protein disease
    • Spongiform Encephalopathy
    • prion induced disorder
    • transmissible spongiform encephalopathy
Rattus norvegicus (Norway rat)
DOID:13909
  • red-green color blindness
  • Aliases:
    • Deutan defect
    • Deuteranopia
    • Reduced red-green discrimination
Rattus norvegicus (Norway rat)
DOID:0050679
  • blue cone monochromacy
Rattus norvegicus (Norway rat)
DOID:13910
  • red color blindness
  • Aliases:
    • Protan defect
    • Protanopia
Rattus norvegicus (Norway rat)

About Release Notes Help Feedback

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 v4.0.0

Last updated: August 19, 2024