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 1 - 25 of 4621 in total
Disease ID Disease Name Gene Symbol ▼ Gene ID Organism
DOID:0060549
  • Barber-Say syndrome
Homo sapiens (human)
DOID:0080941
  • acquired angioedema
Homo sapiens (human)
DOID:11702
  • dysgammaglobulinemia
Homo sapiens (human)
DOID:0060759
  • immunodeficiency with hyper IgM type 5
  • Aliases:
    • HIGM5
    • hyper-IgM syndrome 5
    • hyper-IgM syndrome due to UNG deficiency
    • hyper-IgM syndrome due to uracil N-glycosylase
Homo sapiens (human)
DOID:0060758
  • immunodeficiency with hyper-IgM type 2
  • Aliases:
    • AID deficiency
    • HIGM2
    • activation-induced cytidine deaminase deficiency
    • hyper-IgM syndrome type 2
Homo sapiens (human)
DOID:0050833
  • orotic aciduria
Homo sapiens (human)
DOID:0060062
  • familial juvenile hyperuricemic nephropathy
Homo sapiens (human)
DOID:9643
  • babesiosis
  • Aliases:
    • Babesiasis
    • Infection by babesia
    • piroplasmosis
Homo sapiens (human)
DOID:12638
  • hypertrophic pyloric stenosis
  • Aliases:
    • congenital hypertrophic pyloric stenosis
    • congenital or infantile stricture of pylorus
Homo sapiens (human)
DOID:0112218
  • developmental and epileptic encephalopathy 83
  • Aliases:
    • DEE83
    • early infantile epileptic encephalopathy 83
Homo sapiens (human)
DOID:0112219
  • developmental and epileptic encephalopathy 84
  • Aliases:
    • DEE84
    • Jamuar syndrome
    • early infantile epileptic encephalopathy 84
Homo sapiens (human)
DOID:0080127
  • mitochondrial DNA depletion syndrome 8a
  • Aliases:
    • RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
Homo sapiens (human)
DOID:0070331
  • mitochondrial DNA depletion syndrome 8b
  • Aliases:
    • mitochondrial neurogastrointestinal encephalopathy syndrome, RRM2B-related
Homo sapiens (human)
DOID:0080119
  • mitochondrial DNA depletion syndrome 1
  • Aliases:
    • mitochondrial DNA depletion syndrome 1 (MNGIE type)
    • mitochondrial neurogastrointestinal encephalopathy syndrome, TYMP-related
Homo sapiens (human)
DOID:0080123
  • mitochondrial DNA depletion syndrome 4b
  • Aliases:
    • mitochondrial neurogastrointestinal encephalopathy syndrome
Homo sapiens (human)
DOID:0081183
  • autosomal recessive intellectual developmental disorder 7
Homo sapiens (human)
DOID:4271
  • microsporidiosis
  • Aliases:
    • Infection by Microspora
    • Infection by Microsporea
    • Infection by Microsporida
Homo sapiens (human)
DOID:0050884
  • triosephosphate isomerase deficiency
  • Aliases:
    • Triose phosphate-isomerase deficiency
Homo sapiens (human)
DOID:10811
  • nasal cavity cancer
  • Aliases:
    • malignant neoplasm of nasal cavities
    • malignant tumor of the nasal cavity
Homo sapiens (human)
DOID:0112182
  • mismatch repair cancer syndrome
  • Aliases:
    • BTP1 syndrome
    • BTPS1
    • CMMR-D syndrome
    • CMMRDS
    • MMR deficiency
    • Turcot syndrome
    • brain tumor-polyposis syndrome 1
    • childhood cancer syndrome
    • constitutional mismatch repair deficiency syndrome
Homo sapiens (human)
DOID:1350
  • paranasal sinus benign neoplasm
  • Aliases:
    • neoplasm of accessory sinus
    • tumor of Accessory sinus
Homo sapiens (human)
DOID:0080750
  • erythema nodosum
Homo sapiens (human)
DOID:8515
  • Cor pulmonale
  • Aliases:
    • cardiopulmonary disease
    • pulmonary heart disease
Homo sapiens (human)
DOID:5463
  • cochlear disease
Homo sapiens (human)
DOID:0050642
  • hypochromic microcytic anemia
Homo sapiens (human)

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024