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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 October 9, 2024
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 10201 - 10225 of 15957 in total
Disease ID Disease Name ▼ Gene Symbol Gene ID Organism Source
DOID:0111498
  • combined oxidative phosphorylation deficiency 22
  • Aliases:
    • COXPD22
Mus musculus (house mouse)
DOID:0111498
  • combined oxidative phosphorylation deficiency 22
  • Aliases:
    • COXPD22
Homo sapiens (human)
DOID:0111465
  • combined oxidative phosphorylation deficiency 21
  • Aliases:
    • COXPD21
Homo sapiens (human)
DOID:0111478
  • combined oxidative phosphorylation deficiency 20
  • Aliases:
    • COXPD20
Mus musculus (house mouse)
DOID:0111478
  • combined oxidative phosphorylation deficiency 20
  • Aliases:
    • COXPD20
Homo sapiens (human)
DOID:0111496
  • combined oxidative phosphorylation deficiency 17
  • Aliases:
    • COXPD17
Homo sapiens (human)
DOID:0111469
  • combined oxidative phosphorylation deficiency 16
  • Aliases:
    • COXPD16
    • infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
Homo sapiens (human)
DOID:0111467
  • combined oxidative phosphorylation deficiency 13
  • Aliases:
    • COXPD13
Mus musculus (house mouse)
DOID:0111467
  • combined oxidative phosphorylation deficiency 13
  • Aliases:
    • COXPD13
Homo sapiens (human)
DOID:0111481
  • combined oxidative phosphorylation deficiency 11
  • Aliases:
    • COXPD11
    • infantile encephaloneuromyopathy due to mitochondrial translation defect
Homo sapiens (human)
DOID:0111480
  • combined oxidative phosphorylation deficiency 10
  • Aliases:
    • COXPD10
    • infantile hypertrophic mitochondrial cardiomyopathy and lactic acidosis
    • mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
Mus musculus (house mouse)
DOID:0111480
  • combined oxidative phosphorylation deficiency 10
  • Aliases:
    • COXPD10
    • infantile hypertrophic mitochondrial cardiomyopathy and lactic acidosis
    • mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
Homo sapiens (human)
DOID:0111474
  • combined oxidative phosphorylation deficiency 1
  • Aliases:
    • COXPD1
    • early fatal progressive hepatoencephalopathy
    • hepatoencephalopathy due to COXPD1
    • hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Homo sapiens (human)
DOID:0111263
  • combined malonic and methylmalonic acidemia
  • Aliases:
    • CMAMMA
    • combined malonic and methylmalonic aciduria
Homo sapiens (human)
DOID:0111962
  • combined immunodeficiency
Homo sapiens (human)
DOID:0112173
  • combined deficiency of vitamin K-dependent clotting factors 1
  • Aliases:
    • VKCFD1
Homo sapiens (human)
DOID:0112173
  • combined deficiency of vitamin K-dependent clotting factors 1
  • Aliases:
    • VKCFD1
Mus musculus (house mouse)
DOID:628
  • combined T cell and B cell immunodeficiency
  • Aliases:
    • Congenital Combined Immunodeficiency
Rattus norvegicus (Norway rat)
DOID:628
  • combined T cell and B cell immunodeficiency
  • Aliases:
    • Congenital Combined Immunodeficiency
Mus musculus (house mouse)
DOID:628
  • combined T cell and B cell immunodeficiency
  • Aliases:
    • Congenital Combined Immunodeficiency
Homo sapiens (human)
DOID:0080199
  • colorectal carcinoma
Caenorhabditis elegans
DOID:0080199
  • colorectal carcinoma
Danio rerio (zebrafish)
DOID:0080199
  • colorectal carcinoma
Rattus norvegicus (Norway rat)
DOID:0080199
  • colorectal carcinoma
Xenopus tropicalis (tropical clawed frog)
DOID:0080199
  • colorectal carcinoma
Drosophila melanogaster (fruit fly)
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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: December 9, 2024