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 2651 - 2675 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▼ Source
DOID:0110953
  • Waardenburg syndrome type 4A
  • Aliases:
    • WS4A
    • Waardenburg syndrome type IVA
    • Waardenburg syndrome with Hirschsprung disease type 4A
Rattus norvegicus (Norway rat)
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
Rattus norvegicus (Norway rat)
DOID:0050753
  • cerebellar ataxia
Rattus norvegicus (Norway rat)
DOID:0090139
  • cortisone reductase deficiency
  • Aliases:
    • CORTRD
Rattus norvegicus (Norway rat)
DOID:0060486
  • Perry syndrome
  • Aliases:
    • parkinsonism with alveolar hypoventilation and mental depression
Rattus norvegicus (Norway rat)
DOID:1098
  • fetal erythroblastosis
  • Aliases:
    • EF - Erythroblastosis foetalis
    • Haemolytic disease due to rhesus isoimmunisation
    • erythroblastosis fetalis
    • rhesus isoimmunisation of the newborn
Rattus norvegicus (Norway rat)
DOID:0050524
  • maturity-onset diabetes of the young
  • Aliases:
    • MODY
    • Mason-type diabetes
Rattus norvegicus (Norway rat)
DOID:0050559
  • Fukuyama congenital muscular dystrophy
Rattus norvegicus (Norway rat)
DOID:0111330
  • combined saposin deficiency
  • Aliases:
    • PSAPD
    • combined SAP deficiency
    • encephalopathy due to prosaposin deficiency
Rattus norvegicus (Norway rat)
DOID:0080855
  • Parkinsonism
Rattus norvegicus (Norway rat)
DOID:0050545
  • visceral heterotaxy
  • Aliases:
    • heterotaxia
    • situs ambiguus
Rattus norvegicus (Norway rat)
DOID:0080414
  • developmental and epileptic encephalopathy 15
  • Aliases:
    • DEE15
    • early infantile epileptic encephalopathy 15
Rattus norvegicus (Norway rat)
DOID:0111594
  • distal arthrogryposis type 5D
  • Aliases:
    • DA5D
    • distal arthrogryposis type 5 without ophthalmoparesis
    • distal arthrogryposis type 5 without ophthalmoplegia
Rattus norvegicus (Norway rat)
DOID:2978
  • carbohydrate metabolic disorder
  • Aliases:
    • disorder of carbohydrate transport and metabolism
    • inborn carbohydrate metabolism disorder
    • inborn errors of carbohydrate metabolism
Rattus norvegicus (Norway rat)
DOID:885
  • fascioliasis
  • Aliases:
    • Fasciola hepatica infection
    • Infection by Fasciola
    • Liver flukes
    • Sheep liver fluke infection
Rattus norvegicus (Norway rat)
DOID:8536
  • herpes zoster
  • Aliases:
    • Shingles
    • herpes zona
Rattus norvegicus (Norway rat)
DOID:0080027
  • spondyloepimetaphyseal dysplasia
Rattus norvegicus (Norway rat)
DOID:0112312
  • male infertility due to globozoospermia
  • Aliases:
    • globozoospermia syndrome
Rattus norvegicus (Norway rat)
DOID:0112185
  • thyroid dyshormonogenesis 1
  • Aliases:
    • TDH1
    • genetic defect in thyroid hormonogenesis 1
    • iodide accumulation, transport, or trapping defect
Rattus norvegicus (Norway rat)
DOID:9744
  • type 1 diabetes mellitus
  • Aliases:
    • IDDM
    • insulin-dependent diabetes mellitus
    • type I diabetes mellitus
Rattus norvegicus (Norway rat)
DOID:7475
  • diverticulitis
Rattus norvegicus (Norway rat)
DOID:0110635
  • muscular dystrophy-dystroglycanopathy type B5
  • Aliases:
    • FKRP-related congenital muscular dystrophy
    • MDC1C
    • MDDGB5
    • congenital muscular dystrophy 1C
    • muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5
    • muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5
Rattus norvegicus (Norway rat)
DOID:4751
  • striatonigral degeneration
Rattus norvegicus (Norway rat)
DOID:2671
  • transitional cell carcinoma
  • Aliases:
    • transitional carcinoma
    • transitional cell tumor
    • urothelial cell carcinoma
Rattus norvegicus (Norway rat)
DOID:0050460
  • Wolf-Hirschhorn syndrome
  • Aliases:
    • 4p deletion syndrome
    • PITT SYNDROME
    • Pitt-Rogers-Danks Syndrome
    • chromosome 4p16.3 deletion syndrome
Rattus norvegicus (Norway rat)

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