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 7701 - 7725 of 7942 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism
DOID:0080561
  • congenital disorder of glycosylation Ii
  • Aliases:
    • congenital disorder of glycosylation 1i
Saccharomyces cerevisiae S288C
DOID:0110669
  • congenital myasthenic syndrome 14
  • Aliases:
    • CMS14
    • CMSTA3
    • congenital myasthenic syndrome 14, with tubular aggregates
    • congenital myasthenic syndrome with tubular aggregates 3
Saccharomyces cerevisiae S288C
DOID:0080470
  • developmental and epileptic encephalopathy 36
  • Aliases:
    • congenital disorder of glycosylation, type Is
    • early infantile epileptic encephalopathy 36
Saccharomyces cerevisiae S288C
DOID:0070254
  • congenital disorder of glycosylation type IIb
  • Aliases:
    • CDG IIb
    • CDG2B
    • CDGIIb
    • glucosidase I deficiency
Saccharomyces cerevisiae S288C
DOID:0080572
  • congenital disorder of glycosylation Iw
  • Aliases:
    • congenital disorder of glycosylation 1w
Saccharomyces cerevisiae S288C
DOID:0080573
  • congenital disorder of glycosylation Ix
  • Aliases:
    • congenital disorder of glycosylation 1x
Saccharomyces cerevisiae S288C
DOID:3525
  • middle cerebral artery infarction
Saccharomyces cerevisiae S288C
DOID:0060108
  • brain glioma
  • Aliases:
    • lower grade glioma
Saccharomyces cerevisiae S288C
DOID:0050866
  • oral squamous cell carcinoma
  • Aliases:
    • mouth squamous cell carcinoma
Saccharomyces cerevisiae S288C
DOID:0050827
  • rheumatic heart disease
  • Aliases:
    • rheumatic carditis
Saccharomyces cerevisiae S288C
DOID:3319
  • lymphangioleiomyomatosis
  • Aliases:
    • lung lymphangioleiomyomatosis
    • lymphangiomyomatosis
    • pulmonary lymphangioleiomyomatosis
Saccharomyces cerevisiae S288C
DOID:0112213
  • multiple congenital anomalies-hypotonia-seizures syndrome 4
  • Aliases:
    • DEE77
    • GPIBD19
    • MCAHS4
    • developmental and epileptic encephalopathy 77
    • early infantile epileptic encephalopathy 77
    • glycosylphosphatidylinositol biosynthesis defect 19
Saccharomyces cerevisiae S288C
DOID:0050563
  • nonsyndromic deafness
  • Aliases:
    • nonsyndromic hearing loss
    • nonsyndromic hereditary hearing loss
Saccharomyces cerevisiae S288C
DOID:0110645
  • long QT syndrome 2
  • Aliases:
    • LQT2
Saccharomyces cerevisiae S288C
DOID:11721
  • glycogen storage disease VII
  • Aliases:
    • Glycogen storage disease 7
    • Glycogen storage disease, type VII
    • Muscle phosphofructokinase deficiency
    • glycogen storage disease type VII
    • phosphofructokinase myopathy
Saccharomyces cerevisiae S288C
DOID:11832
  • visual epilepsy
  • Aliases:
    • epilepsy, visual
Saccharomyces cerevisiae S288C
DOID:14115
  • toxic shock syndrome
  • Aliases:
    • TSS
    • toxic shock
Saccharomyces cerevisiae S288C
DOID:0080855
  • Parkinsonism
Saccharomyces cerevisiae S288C
DOID:1712
  • aortic valve stenosis
  • Aliases:
    • Aortic stenosis
    • Rheumatic aortic stenosis
    • rheumatic aortic valve stenosis
Saccharomyces cerevisiae S288C
DOID:3459
  • breast carcinoma
  • Aliases:
    • Mammary carcinoma
    • carcinoma of breast
Saccharomyces cerevisiae S288C
DOID:936
  • brain disease
  • Aliases:
    • encephalopathy
Saccharomyces cerevisiae S288C
DOID:1800
  • neuroendocrine carcinoma
Saccharomyces cerevisiae S288C
DOID:12783
  • migraine without aura
  • Aliases:
    • common migraine
Saccharomyces cerevisiae S288C
DOID:0050579
  • glycogen storage disease XV
  • Aliases:
    • Glycogen storage disease 15
    • Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency
    • glycogen storage disease type XV
Saccharomyces cerevisiae S288C
DOID:0080507
  • Cornelia de Lange syndrome 3
  • Aliases:
    • CDLS3
    • Cornelia De Lange syndrome 3 with or without midline brain defects
Saccharomyces cerevisiae S288C

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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