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 1526 - 1550 of 4621 in total
Disease ID Disease Name Gene Symbol ▼ Gene ID Organism
DOID:0060771
  • obsolete dextro-looped transposition of the great arteries 1
Homo sapiens (human)
DOID:0060770
  • dextro-looped transposition of the great arteries
  • Aliases:
    • D-TGA
    • DTGA1
    • congenitally uncorrected transposition of the great arteries
    • congenitally uncorrected transposition of the great vessels
    • isolated ventriculoarterial discordance
    • ventriculoarterial discordance with atrioventricular concordance
Homo sapiens (human)
DOID:0060161
  • Kennedy's disease
  • Aliases:
    • Kennedy disease
    • SBMA
    • Spinobulbar Muscular Atrophy
    • X-Linked Bulbo-Spinal Atrophy
    • X-linked Spinal and Bulbar Muscular Atrophy
    • spinal bulbar muscular atrophy
Homo sapiens (human)
DOID:0050475
  • Weill-Marchesani syndrome
  • Aliases:
    • GEMSS syndrome
    • Marchesani-Weill Syndrome
    • Mesodermal Dysmorphodystrophy, Congenital
    • Spherophakia Brachymorphia Syndrome
    • congenital mesodermal dystrophy
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: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:0060772
  • multiple types of congenital heart defects 6
  • Aliases:
    • DTGA3
    • dextro-looped transposition of the great arteries 3
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:0111105
  • maturity-onset diabetes of the young type 8
  • Aliases:
    • MODY type 8
    • MODY8
    • diabetes and pancreatic exocrine
    • maturity-onset diabetes of the young type 8 with exocrine dysfunction
Homo sapiens (human)
DOID:3137
  • obsolete multiple symmetrical lipomatosis
Homo sapiens (human)
DOID:3928
  • adiposis dolorosa
  • Aliases:
    • Dercum disease
Homo sapiens (human)
DOID:3153
  • lipomatosis
  • Aliases:
    • multiple lipomatosis
Homo sapiens (human)
DOID:13271
  • cutaneous porphyria
  • Aliases:
    • Erythropoietic porphyria
Homo sapiens (human)
DOID:13270
  • erythropoietic protoporphyria
  • Aliases:
    • EPP
    • Protoporphyria
Homo sapiens (human)
DOID:0080367
  • chronic eosinophilic leukemia
Homo sapiens (human)
DOID:0070219
  • familial hyperinsulinemic hypoglycemia 1
  • Aliases:
    • HHF1
Homo sapiens (human)
DOID:0070218
  • familial hyperinsulinemic hypoglycemia 2
  • Aliases:
    • Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency
    • HHF2
    • hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia
Homo sapiens (human)
DOID:13317
  • hyperinsulinemic hypoglycemia
  • Aliases:
    • Islet cell hyperplasia
    • nesidioblastosis
    • persistent hyperinsulinemia hypoglycemia of infancy
Homo sapiens (human)
DOID:0050670
  • ataxic cerebral palsy
  • Aliases:
    • hypotonic cerebral palsy
Homo sapiens (human)
DOID:10540
  • gastric lymphoma
  • Aliases:
    • Lymphoma of the stomach
Homo sapiens (human)
DOID:0050909
  • extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue
  • Aliases:
    • MALT lymphoma
    • MALT lymphoma of the dura
    • mucosa-associated lymphoid tissue lymphoma
Homo sapiens (human)
DOID:6228
  • peritoneal serous papillary adenocarcinoma
  • Aliases:
    • primary serous papillary carcinoma of peritoneum
Homo sapiens (human)

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Last updated: August 19, 2024