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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 7501 - 7525 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source ▲
DOID:0111469
  • combined oxidative phosphorylation deficiency 16
  • Aliases:
    • COXPD16
    • infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
Homo sapiens (human)
DOID:0111471
  • combined oxidative phosphorylation deficiency 30
  • Aliases:
    • COXPD30
Homo sapiens (human)
DOID:0111473
  • combined oxidative phosphorylation deficiency 5
  • Aliases:
    • COXPD5
    • hypotonia with lactic acidemia and hyperammonemia
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:0111478
  • combined oxidative phosphorylation deficiency 20
  • Aliases:
    • COXPD20
Homo sapiens (human)
DOID:0111478
  • combined oxidative phosphorylation deficiency 20
  • Aliases:
    • COXPD20
Mus musculus (house mouse)
DOID:0111479
  • combined oxidative phosphorylation deficiency 8
  • Aliases:
    • COXPD8
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:0111481
  • combined oxidative phosphorylation deficiency 11
  • Aliases:
    • COXPD11
    • infantile encephaloneuromyopathy due to mitochondrial translation defect
Homo sapiens (human)
DOID:0111485
  • combined oxidative phosphorylation deficiency 24
  • Aliases:
    • COXPD24
Homo sapiens (human)
DOID:0111487
  • combined oxidative phosphorylation deficiency 7
  • Aliases:
    • COXPD7
    • severe C12ORF65-related COXPD
    • severe C12ORF65-related combined oxidative phosphorylation defect
Homo sapiens (human)
DOID:0111492
  • combined oxidative phosphorylation deficiency 32
  • Aliases:
    • COXPD32
Homo sapiens (human)
DOID:0111494
  • combined oxidative phosphorylation deficiency 4
  • Aliases:
    • COXPD4
Mus musculus (house mouse)
DOID:0111494
  • combined oxidative phosphorylation deficiency 4
  • Aliases:
    • COXPD4
Rattus norvegicus (Norway rat)
DOID:0111495
  • combined oxidative phosphorylation deficiency 33
  • Aliases:
    • COXPD33
Homo sapiens (human)
DOID:0111496
  • combined oxidative phosphorylation deficiency 17
  • Aliases:
    • COXPD17
Homo sapiens (human)
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:0111498
  • combined oxidative phosphorylation deficiency 22
  • Aliases:
    • COXPD22
Rattus norvegicus (Norway rat)
DOID:0111499
  • combined oxidative phosphorylation deficiency 37
  • Aliases:
    • COXPD37
Mus musculus (house mouse)
DOID:0111502
  • combined oxidative phosphorylation deficiency 6
  • Aliases:
    • COXPD6
    • Mitochondrial encephalomyopathy due to COXPD6
    • Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6
    • severe X-linked mitochondrial encephalomyopathy
Homo sapiens (human)
DOID:0111502
  • combined oxidative phosphorylation deficiency 6
  • Aliases:
    • COXPD6
    • Mitochondrial encephalomyopathy due to COXPD6
    • Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6
    • severe X-linked mitochondrial encephalomyopathy
Mus musculus (house mouse)
DOID:0111503
  • Li-Fraumeni syndrome 1
  • Aliases:
    • LFS1
Rattus norvegicus (Norway rat)
DOID:0111503
  • Li-Fraumeni syndrome 1
  • Aliases:
    • LFS1
Mus musculus (house mouse)
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Last updated: December 9, 2024