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 2151 - 2175 of 4621 in total
Disease ID Disease Name Gene Symbol ▼ Gene ID Organism
DOID:11211
  • buphthalmos
  • Aliases:
    • primary congenital glaucoma 3A
    • simple buphthalmos
Homo sapiens (human)
DOID:11212
  • hydrophthalmos
Homo sapiens (human)
DOID:14748
  • Sotos syndrome
  • Aliases:
    • cerebral gigantism
Homo sapiens (human)
DOID:0060476
  • Perlman syndrome
  • Aliases:
    • nephroblastomatosis - fetal ascites - macrosomia - Wilms tumor
    • nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor
    • renal hamartomas, nephroblastomatosis and fetal gigantism
Homo sapiens (human)
DOID:5572
  • Beckwith-Wiedemann syndrome
Homo sapiens (human)
DOID:0080351
  • CLOVES syndrome
  • Aliases:
    • congenital lipomatous overgrowth, vascular malformations, and epidermal nevi
Homo sapiens (human)
DOID:1440
  • Machado-Joseph disease
  • Aliases:
    • Azorean disease
    • MJD
    • SCA3
    • spinocerebellar ataxia 3
    • spinocerebellar ataxia type 3
Homo sapiens (human)
DOID:0111395
  • mucopolysaccharidosis type IIIA
  • Aliases:
    • MPS3A
    • MPSIIIA
    • Sanfilippo syndrome type A
    • heparan sulfamidase deficiency
    • mucopolysaccharidosis III-A
    • mucopolysaccharidosis type 3A
    • mucopolysaccharidosis type IIIA (Sanfilippo A)
Homo sapiens (human)
DOID:0060222
  • Scheie syndrome
  • Aliases:
    • mucopolysaccharidosis type 1S
    • mucopolysaccharidosis type IS
    • mucopolysaccharidosis type V
Homo sapiens (human)
DOID:319
  • spinal cord disease
Homo sapiens (human)
DOID:819
  • mediastinitis
Homo sapiens (human)
DOID:2538
  • Landau-Kleffner syndrome
  • Aliases:
    • acquired epileptic aphasia
Homo sapiens (human)
DOID:6712
  • anterior spinal artery syndrome
  • Aliases:
    • Anterior spinal artery occlusion syndrome
Homo sapiens (human)
DOID:13096
  • Sneddon syndrome
  • Aliases:
    • Idiopathic livedo reticularis with systemic involvement
Homo sapiens (human)
DOID:1829
  • urethral stricture
Homo sapiens (human)
DOID:0080354
  • Phelan-McDermid syndrome
  • Aliases:
    • 22q13.3 deletion syndrome
    • monosomy 22q13 syndrome
Homo sapiens (human)
DOID:4927
  • Klatskin's tumor
  • Aliases:
    • Klatskin tumor
    • Klatskin tumour
    • Klatskin's tumour
    • Perihilar extrahepatic bile duct carcinoma
    • hilar cholangiocarcinoma
    • hilar cholangiocellular carcinoma
Homo sapiens (human)
DOID:3323
  • Sandhoff disease
  • Aliases:
    • Sandhoff Jatzkewitz disease
Homo sapiens (human)
DOID:3320
  • Tay-Sachs disease
  • Aliases:
    • GM2 gangliosidosis, type 1
    • hexosaminidase A deficiency
Homo sapiens (human)
DOID:8536
  • herpes zoster
  • Aliases:
    • Shingles
    • herpes zona
Homo sapiens (human)
DOID:12583
  • velocardiofacial syndrome
  • Aliases:
    • Shprintzen syndrome
    • VCF-Velocardiofacial syndrome
Homo sapiens (human)
DOID:11198
  • DiGeorge syndrome
  • Aliases:
    • 22q11.2 deletion syndrome
    • DiGeorge sequence
    • DiGeorge's syndrome
    • Pharyngeal pouch syndrome
Homo sapiens (human)
DOID:0110938
  • autosomal dominant osteopetrosis 2
  • Aliases:
    • Albers-Schonberg osteopetrosis
    • OPTA2
    • autosomal dominant Albers-Schonberg disease
    • autosomal dominant osteopetrosis type II
    • osteopetrosis autosomal dominant type 2
Homo sapiens (human)
DOID:7475
  • diverticulitis
Homo sapiens (human)
DOID:0080502
  • GM1 gangliosidosis type 1
Homo sapiens (human)

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Last updated: August 19, 2024