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 4951 - 4975 of 7942 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism
DOID:0050827
  • rheumatic heart disease
  • Aliases:
    • rheumatic carditis
Mus musculus (house mouse)
DOID:0050866
  • oral squamous cell carcinoma
  • Aliases:
    • mouth squamous cell carcinoma
Mus musculus (house mouse)
DOID:1826
  • epilepsy
  • Aliases:
    • epilepsy syndrome
    • epileptic syndrome
Mus musculus (house mouse)
DOID:0111459
  • classic galactosemia
  • Aliases:
    • GALT deficiency
    • galactose-1-phosphate uridyltransferase deficiency
    • galactosemia type 1
Mus musculus (house mouse)
DOID:0111063
  • hyperphosphatemic familial tumoral calcinosis
  • Aliases:
    • HFTC
    • HHS
    • PHPTC
    • cortical hyperostosis with hyperphosphatemia
    • familial Teutschlaender disease
    • familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome
    • hypercalcemic tumoral calcinosis
    • hyperostosis with hyperphosphatemia
    • hyperphosphatemia hyperostosis
    • hyperphosphatemia hyperostosis syndrome
    • hyperphosphatemia tumoral calcinosis
    • lipocalcinogranulomatosis
    • morbus Teutschlaender
    • primary hyperphosphatemic tumoral calcinosis
    • tumoral calcinosis with hyperphosphatemia
Mus musculus (house mouse)
DOID:0110645
  • long QT syndrome 2
  • Aliases:
    • LQT2
Homo sapiens (human)
DOID:0050563
  • nonsyndromic deafness
  • Aliases:
    • nonsyndromic hearing loss
    • nonsyndromic hereditary hearing loss
Homo sapiens (human)
DOID:2843
  • long QT syndrome
  • Aliases:
    • LQT
    • long Q-T syndrome
Homo sapiens (human)
DOID:4079
  • heart valve disease
  • Aliases:
    • Valvular heart disease
Mus musculus (house mouse)
DOID:0110777
  • hereditary spastic paraplegia 26
  • Aliases:
    • GM2 synthase deficiency
    • SPG26
    • autosomal recessive spastic paraplegia 26
    • autosomal recessive spastic paraplegia type 26
Mus musculus (house mouse)
DOID:11949
  • Creutzfeldt-Jakob disease
  • Aliases:
    • CJD
    • Creutzfeldt Jacob syndrome
    • Creutzfeldt Jakob disease
    • Creutzfeldt-Jacob disease
    • Jakob-Creutzfeldt disease
    • Subacute spongiform encephalopathy
    • Transmissible virus dementia
Mus musculus (house mouse)
DOID:10587
  • Krabbe disease
  • Aliases:
    • Diffuse globoid body sclerosis
    • GLOBOID CELL LEUKOENCEPHALOPATHY
    • Galactosylceramide beta-galactosidase deficiency
    • Krabbe's disease
    • Krabbe's leukodystrophy
    • beta galactocerebrosidase deficiency
    • globoid cell leukodystrophy
Mus musculus (house mouse)
DOID:13276
  • Mycoplasma pneumoniae pneumonia
  • Aliases:
    • Mycoplasma pneumonia
    • Mycoplasmal pneumonia
    • Pneumonia due to Eaton's agent
    • Pneumonia due to Mycoplasma pneumoniae
    • Pneumonia due to Mycoplasma pneumoniae (disorder)
    • cold agglutinin positive pneumonia
Mus musculus (house mouse)
DOID:2752
  • glycogen storage disease II
  • Aliases:
    • Generalized glycogenosis
    • Glycogen storage disease 2
    • Glycogen storage disease, type II
    • Glycogenosis, type 2
    • Lysosomal alpha-1,4-glucosidase deficiency
    • Pompe's disease
    • acid maltase deficiency
    • deficiency of glucoamylase
    • deficiency of maltase
    • glycogen storage disease type II
Mus musculus (house mouse)
DOID:9281
  • phenylketonuria
  • Aliases:
    • Folling's disease
    • PKU
    • maternal phenylketonuria
    • phenylalaninemia
Mus musculus (house mouse)
DOID:2383
  • neonatal jaundice
  • Aliases:
    • neonatal hyperbilirubinemia
    • neonatal icterus
Mus musculus (house mouse)
DOID:6713
  • cerebrovascular disease
  • Aliases:
    • CVA
    • cerebrovascular disorder
    • stroke
Mus musculus (house mouse)
DOID:13413
  • hepatic encephalopathy
  • Aliases:
    • Portal-systemic encephalopathy
Mus musculus (house mouse)
DOID:13628
  • favism
Mus musculus (house mouse)
DOID:9279
  • hyperhomocysteinemia
Mus musculus (house mouse)
DOID:12365
  • malaria
  • Aliases:
    • induced malaria
Mus musculus (house mouse)
DOID:14067
  • Plasmodium falciparum malaria
  • Aliases:
    • Malaria fever, subtertian
    • falciparum malaria
    • malignant tertian fever
Mus musculus (house mouse)
DOID:0050328
  • congenital hypothyroidism
Mus musculus (house mouse)
DOID:2355
  • anemia
  • Aliases:
    • anaemia
Mus musculus (house mouse)
DOID:2861
  • congenital nonspherocytic hemolytic anemia
  • Aliases:
    • HNSHA
    • congenital nonspherocytic hemolytic anaemia
    • hereditary nonspherocytic hemolytic anaemia
    • hereditary nonspherocytic hemolytic anemia
Mus musculus (house mouse)

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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