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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 8451 - 8475 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source ▼
DOID:0111479
  • combined oxidative phosphorylation deficiency 8
  • Aliases:
    • COXPD8
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: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:0111473
  • combined oxidative phosphorylation deficiency 5
  • Aliases:
    • COXPD5
    • hypotonia with lactic acidemia and hyperammonemia
Homo sapiens (human)
DOID:0111471
  • combined oxidative phosphorylation deficiency 30
  • Aliases:
    • COXPD30
Homo sapiens (human)
DOID:0111469
  • combined oxidative phosphorylation deficiency 16
  • Aliases:
    • COXPD16
    • infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
Homo sapiens (human)
DOID:0111468
  • combined oxidative phosphorylation deficiency 25
  • Aliases:
    • COXPD25
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:0111465
  • combined oxidative phosphorylation deficiency 21
  • Aliases:
    • COXPD21
Homo sapiens (human)
DOID:0111464
  • combined oxidative phosphorylation deficiency 35
  • Aliases:
    • COXPD35
Homo sapiens (human)
DOID:0111463
  • cardiofaciocutaneous syndrome 4
  • Aliases:
    • CFC4
Homo sapiens (human)
DOID:0111463
  • cardiofaciocutaneous syndrome 4
  • Aliases:
    • CFC4
Rattus norvegicus (Norway rat)
DOID:0111462
  • cardiofaciocutaneous syndrome 3
  • Aliases:
    • CFC3
Mus musculus (house mouse)
DOID:0111462
  • cardiofaciocutaneous syndrome 3
  • Aliases:
    • CFC3
Homo sapiens (human)
DOID:0111461
  • cardiofaciocutaneous syndrome 2
  • Aliases:
    • CFC2
Homo sapiens (human)
DOID:0111461
  • cardiofaciocutaneous syndrome 2
  • Aliases:
    • CFC2
Mus musculus (house mouse)
DOID:0111460
  • cardiofaciocutaneous syndrome 1
  • Aliases:
    • CFC1
Mus musculus (house mouse)
DOID:0111459
  • classic galactosemia
  • Aliases:
    • GALT deficiency
    • galactose-1-phosphate uridyltransferase deficiency
    • galactosemia type 1
Caenorhabditis elegans
DOID:0111459
  • classic galactosemia
  • Aliases:
    • GALT deficiency
    • galactose-1-phosphate uridyltransferase deficiency
    • galactosemia type 1
Mus musculus (house mouse)
DOID:0111459
  • classic galactosemia
  • Aliases:
    • GALT deficiency
    • galactose-1-phosphate uridyltransferase deficiency
    • galactosemia type 1
Homo sapiens (human)
DOID:0111459
  • classic galactosemia
  • Aliases:
    • GALT deficiency
    • galactose-1-phosphate uridyltransferase deficiency
    • galactosemia type 1
Drosophila melanogaster (fruit fly)
DOID:0111459
  • classic galactosemia
  • Aliases:
    • GALT deficiency
    • galactose-1-phosphate uridyltransferase deficiency
    • galactosemia type 1
Rattus norvegicus (Norway rat)
DOID:0111459
  • classic galactosemia
  • Aliases:
    • GALT deficiency
    • galactose-1-phosphate uridyltransferase deficiency
    • galactosemia type 1
Saccharomyces cerevisiae S288C
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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