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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 2451 - 2475 of 4649 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source ▲
DOID:0111448
  • progressive myoclonus epilepsy 1B
  • Aliases:
    • EPM1B
Homo sapiens (human)
DOID:0111450
  • progressive myoclonus epilepsy 9
  • Aliases:
    • EMP9
    • PME type 9
    • progressive myoclonic epilepsy due to LMNB2 deficiency
    • progressive myoclonus epilepsy type 9
Homo sapiens (human)
DOID:0111451
  • progressive myoclonus epilepsy 8
  • Aliases:
    • EMP8
    • PME type 8
    • progressive myoclonic epilepsy due to CERS1 deficiency
    • progressive myoclonus epilepsy type 8
Homo sapiens (human)
DOID:0111452
  • progressive myoclonus epilepsy 1A
  • Aliases:
    • EPM1A
Homo sapiens (human)
DOID:0111453
  • 2-aminoadipic 2-oxoadipic aciduria
  • Aliases:
    • AMOXAD
    • alpha-aminoadipic aciduria
Homo sapiens (human)
DOID:0111457
  • STING-associated vasculopathy with onset in infancy
  • Aliases:
    • SAVI
Homo sapiens (human)
DOID:0111458
  • galactose epimerase deficiency
  • Aliases:
    • GALE deficiency
    • GALE-D
    • UDP-galactose-4-epimerase deficiency
    • epimerase deficiency galactosemia
    • galactosemia III
    • galactosemia type 3
    • uridine diphosphate galactose-4-epimerase deficiency
Homo sapiens (human)
DOID:0111459
  • classic galactosemia
  • Aliases:
    • GALT deficiency
    • galactose-1-phosphate uridyltransferase deficiency
    • galactosemia type 1
Homo sapiens (human)
DOID:0111461
  • cardiofaciocutaneous syndrome 2
  • Aliases:
    • CFC2
Homo sapiens (human)
DOID:0111462
  • cardiofaciocutaneous syndrome 3
  • Aliases:
    • CFC3
Homo sapiens (human)
DOID:0111463
  • cardiofaciocutaneous syndrome 4
  • Aliases:
    • CFC4
Homo sapiens (human)
DOID:0111464
  • combined oxidative phosphorylation deficiency 35
  • Aliases:
    • COXPD35
Homo sapiens (human)
DOID:0111465
  • combined oxidative phosphorylation deficiency 21
  • Aliases:
    • COXPD21
Homo sapiens (human)
DOID:0111467
  • combined oxidative phosphorylation deficiency 13
  • Aliases:
    • COXPD13
Homo sapiens (human)
DOID:0111468
  • combined oxidative phosphorylation deficiency 25
  • Aliases:
    • COXPD25
Homo sapiens (human)
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: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
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)
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Last updated: December 9, 2024