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 3651 - 3675 of 4621 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism
DOID:0080737
  • Ehlers-Danlos syndrome musculocontractural type 2
Homo sapiens (human)
DOID:0111240
  • congenital muscular dystrophy-dystroglycanopathy type A2
  • Aliases:
    • MDDGA2
    • Walker-Warburg syndrome or muscle-eye-brain disease, POMT2-related
    • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A2
Homo sapiens (human)
DOID:0112380
  • muscular dystrophy-dystroglycanopathy type B2
  • Aliases:
    • MDDGB2
    • congenital muscular dystrophy POMT2-related
Homo sapiens (human)
DOID:0110980
  • Joubert syndrome 1
  • Aliases:
    • CORS1
    • CPD4
    • JBTS1
    • cerebellooculorenal syndrome 1
    • cerebelloparenchymal disorder IV
Homo sapiens (human)
DOID:4501
  • orofaciodigital syndrome
  • Aliases:
    • oral-facial-digital syndrome
Homo sapiens (human)
DOID:4080
  • tricuspid valve insufficiency
  • Aliases:
    • Tricuspid incompetence
    • Tricuspid regurgitation
    • Tricuspid valve regurgitation
Homo sapiens (human)
DOID:0050476
  • Barth syndrome
  • Aliases:
    • 3-methylglutaconicaciduria type 2
    • 3-methylglutaconicaciduria type II
    • MGA Type 2
    • MGA type II
Homo sapiens (human)
DOID:13789
  • staphyloma posticum
Homo sapiens (human)
DOID:0070215
  • familial hyperinsulinemic hypoglycemia 4
  • Aliases:
    • HHF4
    • hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
    • hyperinsulinism due to SCHAD deficiency
    • hyperinsulinism due to glutamodehydrogenase deficiency
    • hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
Homo sapiens (human)
DOID:746
  • adenomatoid tumor
  • Aliases:
    • adenomatoid tumour
    • benign localised epithelial Mesothelioma
    • benign localized epithelial Mesothelioma
Homo sapiens (human)
DOID:12376
  • juvenile spinal muscular atrophy
  • Aliases:
    • Kugelberg-Welander disease
    • SMA3
    • Spinal Muscular Atrophy Type 3
    • Type III Spinal Muscular Atrophy
Homo sapiens (human)
DOID:13137
  • Werdnig-Hoffmann disease
  • Aliases:
    • HMN (Hereditary motor Neuropathy) Proximal type I
    • SMA1
    • Spinal muscular atrophy 1
    • hereditary motor neuropathy proximal type I
    • infantile muscular atrophy
    • progressive muscular atrophy of infancy
Homo sapiens (human)
DOID:0060160
  • childhood spinal muscular atrophy
  • Aliases:
    • spinal muscular atrophies of childhood
    • survival motor neuron spinal muscular atrophy
Homo sapiens (human)
DOID:1580
  • diffuse scleroderma
  • Aliases:
    • diffuse systemic sclerosis
    • systemic sclerosis, diffuse
Homo sapiens (human)
DOID:0080490
  • mucolipidosis type IV
Homo sapiens (human)
DOID:0090016
  • chromosome 5q deletion syndrome
  • Aliases:
    • 5q- syndrome, refractory macrocytic anemia due to 5q deletion
    • myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
Homo sapiens (human)
DOID:780
  • placenta disease
Homo sapiens (human)
DOID:496
  • spindle cell hemangioma
  • Aliases:
    • SCH
Homo sapiens (human)
DOID:0111052
  • Scott syndrome
  • Aliases:
    • BDPLT7
    • SCTS
    • bleeding abnormality due to deficiency of platelet biding of factor X
    • familial prothrombin consumption inhibitor
    • familial prothrombin conversion defect
    • platelet-type bleeding disorder 7
    • prothrombin consumption deficiency
Homo sapiens (human)
DOID:0050598
  • extrapulmonary tuberculosis
Homo sapiens (human)
DOID:5468
  • biliary papillomatosis
  • Aliases:
    • bile duct papillomatosis
Homo sapiens (human)
DOID:4682
  • extrahepatic bile duct carcinoma
  • Aliases:
    • carcinoma of extrahepatic bile duct
    • extrahepatic bile duct cancer
Homo sapiens (human)
DOID:4877
  • breast adenoid cystic carcinoma
  • Aliases:
    • Mammary Adenocystic carcinoma
Homo sapiens (human)
DOID:2433
  • epidermal appendage tumor
  • Aliases:
    • neoplasm of skin with adnexal differentiation
    • neoplasm of the skin Appendage
    • skin appendage tumour
Homo sapiens (human)
DOID:1252
  • trichuriasis
  • Aliases:
    • Infection by Trichuris trichura
    • Trichuriasis infection
    • Whipworm disease
    • trichuris trichiura infection
Homo sapiens (human)

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Last updated: August 19, 2024