GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source Last Updated
Alliance of Genome Resources July 29, 2024
DisGeNET July 29, 2024
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 2701 - 2725 of 4621 in total
Disease ID ▼ Disease Name Gene Symbol Gene ID Organism
DOID:0111933
  • phosphoglycerate kinase 1 deficiency
  • Aliases:
    • GSD due to phosphoglycerate kinase 1 deficiency
    • PGK1 deficiency
    • glycogen storage disease due to phosphoglycerate kinase 1 deficiency
    • glycogenosis due to phosphoglycerate kinase 1 deficiency
Homo sapiens (human)
DOID:0111910
  • spermatogenic failure
  • Aliases:
    • SPGF
Homo sapiens (human)
DOID:0111898
  • CK syndrome
  • Aliases:
    • X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome
Homo sapiens (human)
DOID:0111865
  • MEND syndrome
  • Aliases:
    • male EBP disorder with neurological defects
Homo sapiens (human)
DOID:0111843
  • Paganini-Miozzo syndrome
  • Aliases:
    • MRXSPM
Homo sapiens (human)
DOID:0111822
  • CHILD syndrome
  • Aliases:
    • CHILD nevus
    • congenital hemidysplasia with ichthyosiform nevus and limbs defects
Homo sapiens (human)
DOID:0111773
  • 46,XY sex reversal 8
  • Aliases:
    • SRXY8
    • TDD
    • male pseudohermaphroditism due to deficiency of testicular 17,20-desmolase
Homo sapiens (human)
DOID:0111756
  • Leber hereditary optic neuropathy with demyelinating disease of CNS
Homo sapiens (human)
DOID:0111739
  • X-linked deafness 1
  • Aliases:
    • DFN2
    • DFNX1
    • X-linked sensorineural congenital deafness 2
Homo sapiens (human)
DOID:0111691
  • familial adult myoclonic epilepsy 5
  • Aliases:
    • FAME5
    • FCMTE5
    • familial cortical myoclonic tremor and epilepsy 5
Homo sapiens (human)
DOID:0111681
  • glutamate-cysteine ligase deficiency
  • Aliases:
    • gamma-glutamylcysteine synthetase deficiency
    • hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency
Homo sapiens (human)
DOID:0111680
  • essential fructosuria
  • Aliases:
    • fructokinase deficiency
    • hepatic fructokinase deficiency
    • ketohexokinase deficiency
Homo sapiens (human)
DOID:0111677
  • familial benign fleck retina
  • Aliases:
    • FRFB
Homo sapiens (human)
DOID:0111673
  • Saul-Wilson syndrome
  • Aliases:
    • SWILS
    • microcephalic osteodysplastic dysplasia, Saul-Wilson type
Homo sapiens (human)
DOID:0111672
  • primary hyperoxaluria type 3
  • Aliases:
    • HP3
    • PH III
    • primary hyperoxaluria type III
Homo sapiens (human)
DOID:0111671
  • primary hyperoxaluria type 2
  • Aliases:
    • D-glycerate dehydrogenase deficiency
    • HP2
    • L-glyceric aciduria
    • glyoxylate reductase/hydroxypyruvate reductase deficiency
    • oxalosis II
Homo sapiens (human)
DOID:0111670
  • primary hyperoxaluria type 1
  • Aliases:
    • HP1
    • alanine-glyoxylate aminotransferase deficiency
    • glycolic aciduria
    • hepatic AGT deficiency
    • oxalosis I
    • peroxisomal alanine-glyoxylate aminotransferase deficiency
    • serine pyruvate aminotransferase deficiency
Homo sapiens (human)
DOID:0111646
  • congenital lactase deficiency
  • Aliases:
    • CLD
    • congenital alactasia
    • congenital alactasia syndrome
    • congenital lactose intolerance
    • congenital lactose malabsorption
    • disaccharide intolerance II
Homo sapiens (human)
DOID:0111633
  • congenital sucrase-isomaltase deficiency
  • Aliases:
    • CSID
    • SI deficiency
    • congenital sucrase-isomaltose malabsorption
    • congenital sucrose intolerance
    • disaccharide intolerance
Homo sapiens (human)
DOID:0111630
  • familial erythrocytosis 8
  • Aliases:
    • BPGM deficiency
    • DPGM deficiency
    • ECYT8
    • bisphosphoglycerate mutase deficiency
    • bisphosphoglyceromutase deficiency
    • diphosphoglycerate mutase deficiency of erythrocyte
    • hemolytic anemia due to diphosphoglycerate mutase deficiency
Homo sapiens (human)
DOID:0111626
  • D-glyceric aciduria
  • Aliases:
    • D-glycerate kinase deficiency
    • D-glyceric acidemia
    • D-glycericacidemia
    • deficiency of glycerate kinase
    • non ketotic hyperglycinemia syndrome
Homo sapiens (human)
DOID:0111619
  • combined D-2- and L-2-hydroxyglutaric aciduria
  • Aliases:
    • D,L-2-HGA
    • D,L-2-hydroxyglutaric acidemia
    • D,L-2-hydroxyglutaric aciduria
    • combined D,L-2-hydroxyglutaric aciduria
    • combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia
    • combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria
Homo sapiens (human)
DOID:0111582
  • hereditary arterial and articular multiple calcification syndrome
  • Aliases:
    • CALJA
    • arterial calcification and distal joint calcification
    • arterial calcification due to CD73 deficiency
    • arterial calcification due to deficiency of CD73
    • calcification of joints and arteries
Homo sapiens (human)
DOID:0111532
  • osteoglophonic dysplasia
  • Aliases:
    • Fairbank-Keats syndrome
    • OGD
    • osteoglophonic dwarfism
Homo sapiens (human)
DOID:0111531
  • bilateral optic nerve hypoplasia
  • Aliases:
    • ONH
    • familial bilateral optic nerve hypoplasia
    • isolated optic nerve hypoplasia/aplasia
Homo sapiens (human)

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 v4.0.0

Last updated: August 19, 2024