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 876 - 900 of 4621 in total
Disease ID ▲ Disease Name Gene Symbol Gene ID Organism
DOID:0080265
  • nephrotic syndrome type 14
Homo sapiens (human)
DOID:0080283
  • developmental and epileptic encephalopathy 55
  • Aliases:
    • DEE55
    • GPIBD14
    • early infantile epileptic encephalopathy 55
    • glycosylphosphatidylinositol biosynthesis defect 14
Homo sapiens (human)
DOID:0080288
  • spinocerebellar ataxia 46
Homo sapiens (human)
DOID:0080301
  • atypical hemolytic-uremic syndrome
Homo sapiens (human)
DOID:0080302
  • mixed sleep apnea
  • Aliases:
    • complex sleep apnea
Homo sapiens (human)
DOID:0080307
  • myofibrillar myopathy
Homo sapiens (human)
DOID:0080319
  • X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia
  • Aliases:
    • XMEN
Homo sapiens (human)
DOID:0080322
  • polycystic kidney disease
Homo sapiens (human)
DOID:0080324
  • tuberous sclerosis 1
Homo sapiens (human)
DOID:0080325
  • tuberous sclerosis 2
Homo sapiens (human)
DOID:0080326
  • familial hypertrophic cardiomyopathy
Homo sapiens (human)
DOID:0080329
  • cold-induced sweating syndrome 1
Homo sapiens (human)
DOID:0080332
  • bicuspid aortic valve disease
  • Aliases:
    • Familial bicuspid aortic valve
Homo sapiens (human)
DOID:0080333
  • aortic valve disease 1
Homo sapiens (human)
DOID:0080334
  • aortic valve disease 2
Homo sapiens (human)
DOID:0080335
  • mitochondrial DNA depletion syndrome 12b
Homo sapiens (human)
DOID:0080342
  • Simpson-Golabi-Behmel syndrome type 2
Homo sapiens (human)
DOID:0080347
  • malignant pheochromocytoma
  • Aliases:
    • Pheochromocytoma, malignant
Homo sapiens (human)
DOID:0080348
  • Alzheimer's disease 1
  • Aliases:
    • Alzheimer's disease 1, early onset
Homo sapiens (human)
DOID:0080349
  • developmental and epileptic encephalopathy 39
  • Aliases:
    • AGC1 deficiency
    • early infantile epileptic encephalopathy 39
    • epileptic encephalopathy with global cerebral demyelination
Homo sapiens (human)
DOID:0080351
  • CLOVES syndrome
  • Aliases:
    • congenital lipomatous overgrowth, vascular malformations, and epidermal nevi
Homo sapiens (human)
DOID:0080352
  • X-linked chondrodysplasia punctata 2
  • Aliases:
    • Conradi-Hunermann Syndrome
    • Happle syndrome
Homo sapiens (human)
DOID:0080354
  • Phelan-McDermid syndrome
  • Aliases:
    • 22q13.3 deletion syndrome
    • monosomy 22q13 syndrome
Homo sapiens (human)
DOID:0080356
  • IgG4-related disease
Homo sapiens (human)
DOID:0080362
  • X-linked spondyloepiphyseal dysplasia tarda
Homo sapiens (human)

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Last updated: August 19, 2024