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 1301 - 1325 of 4621 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism
DOID:0050841
  • focal hand dystonia
  • Aliases:
    • organic writer's cramp
Homo sapiens (human)
DOID:529
  • blepharospasm
Homo sapiens (human)
DOID:308
  • early myoclonic encephalopathy
  • Aliases:
    • Epileptic seizures - myoclonic
    • Epileptic seizures, myoclonic
    • Myoclonic seizure
    • Myoclonic seizure disorder
    • myoclonia epileptica
    • myoclonic epilepsy
Homo sapiens (human)
DOID:3535
  • Unverricht-Lundborg syndrome
  • Aliases:
    • Unverricht - Lundborg disease
    • Unverricht's disease
    • Unverricht-Lundborg disease
Homo sapiens (human)
DOID:6419
  • tetralogy of Fallot
  • Aliases:
    • Ventricular septal defect with pulmonary stenosis or atresia, dextraposition of aorta, and hypertrophy of right ventricle
Homo sapiens (human)
DOID:6406
  • double outlet right ventricle
  • Aliases:
    • Dextrotransposition of aorta
    • Double outlet right ventricle with subpulmonary ventricular septal defect
    • Taussig-Bing syndrome or defect
Homo sapiens (human)
DOID:0060772
  • multiple types of congenital heart defects 6
  • Aliases:
    • DTGA3
    • dextro-looped transposition of the great arteries 3
Homo sapiens (human)
DOID:891
  • progressive myoclonus epilepsy
  • Aliases:
    • PME
    • progressive myoclonic epilepsy
Homo sapiens (human)
DOID:0060162
  • dentatorubral-pallidoluysian atrophy
  • Aliases:
    • DRPLA
    • Haw River Syndrome
    • Naito-Oyanagi disease
Homo sapiens (human)
DOID:0111444
  • progressive myoclonus epilepsy 4
  • Aliases:
    • AMRF
    • EPM4
    • Myoclonus-nephropathy syndrome
    • action myoclonus-renal failure syndrome
Homo sapiens (human)
DOID:0050545
  • visceral heterotaxy
  • Aliases:
    • heterotaxia
    • situs ambiguus
Homo sapiens (human)
DOID:0080218
  • primary spontaneous pneumothorax
Homo sapiens (human)
DOID:0111451
  • progressive myoclonus epilepsy 8
  • Aliases:
    • EMP8
    • PME type 8
    • progressive myoclonic epilepsy due to CERS1 deficiency
    • progressive myoclonus epilepsy type 8
Homo sapiens (human)
DOID:10881
  • hand, foot and mouth disease
  • Aliases:
    • Vesicular stomatitis and exanthem
Homo sapiens (human)
DOID:640
  • encephalomyelitis
  • Aliases:
    • Encephalitis &/or myelitis
Homo sapiens (human)
DOID:3320
  • Tay-Sachs disease
  • Aliases:
    • GM2 gangliosidosis, type 1
    • hexosaminidase A deficiency
Homo sapiens (human)
DOID:9588
  • encephalitis
Homo sapiens (human)
DOID:322
  • myelitis
Homo sapiens (human)
DOID:10966
  • lipoid nephrosis
  • Aliases:
    • Minimal Change Glomerulonephritis
    • Minimal change disease
    • Nephrotic syndrome with lesion of minimal change glomerulonephritis
    • Nephrotic syndrome with lesion of minimal change nephrotic syndrome
Homo sapiens (human)
DOID:10976
  • membranous glomerulonephritis
  • Aliases:
    • membranous nephropathy
Homo sapiens (human)
DOID:680
  • tauopathy
Homo sapiens (human)
DOID:1441
  • autosomal dominant cerebellar ataxia
  • Aliases:
    • spinocerebellar ataxia
Homo sapiens (human)
DOID:14504
  • Niemann-Pick disease
  • Aliases:
    • Sphingomyelinase Deficiency Disease
    • lipoid histiocytosis
    • sphingomyelin lipidosis
Homo sapiens (human)
DOID:1927
  • sphingolipidosis
  • Aliases:
    • sphingolipidoses
Homo sapiens (human)
DOID:11119
  • Gilles de la Tourette syndrome
  • Aliases:
    • Guinon's disease
    • Psychogenic tics
    • Tourette syndrome
    • motor-verbal tic disorder
Homo sapiens (human)

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Last updated: August 19, 2024