GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source Last Updated
Alliance of Genome Resources October 9, 2024
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 5976 - 6000 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▲ Source
DOID:0081355
  • congenital myopathy 22B
Homo sapiens (human)
DOID:0110920
  • hereditary spherocytosis type 5
  • Aliases:
    • HS5
    • SPH5
    • hereditary spherocytosis 5
Homo sapiens (human)
DOID:3376
  • bone osteosarcoma
  • Aliases:
    • Osteosarcoma of bone
    • primary Osteosarcoma of bone
Homo sapiens (human)
DOID:0081333
  • Wiedemann-Rautenstrauch syndrome
  • Aliases:
    • Neonatal progeroid syndrome
    • PROGEROID SYNDROME, NEONATAL
Homo sapiens (human)
DOID:0112063
  • X-Linked immunodeficiency 74
  • Aliases:
    • IMD74
    • TLR7 deficiency
    • X-linked immunodeficiency 74,COVID-19-related
    • respiratory insufficiency due to SARS-CoV-2 viral infection
Homo sapiens (human)
DOID:4423
  • sea-blue histiocytosis
  • Aliases:
    • Sea-blue histiocyte syndrome
Homo sapiens (human)
DOID:0050737
  • autosomal recessive disease
Homo sapiens (human)
DOID:1192
  • peripheral nervous system neoplasm
  • Aliases:
    • neoplasm of peripheral nerve
    • nerve sheath neoplasm
    • tumor of PNS
Homo sapiens (human)
DOID:0111814
  • methylmalonic acidemia and homocysteinemia cblX type
  • Aliases:
    • combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX
    • mental retardation, X-linked 3
    • methylmalonic aciduria with homocystinuria, type cblX
Homo sapiens (human)
DOID:2236
  • congenital afibrinogenemia
  • Aliases:
    • Factor I deficiency
    • Fibrinogen deficiency
Homo sapiens (human)
DOID:90
  • degenerative disc disease
  • Aliases:
    • cervical disc degenerative disease
    • intervertebral disc degeneration
    • lumbar disc degeneration
    • vertebral disc disease
Homo sapiens (human)
DOID:8622
  • measles
  • Aliases:
    • morbilli
Homo sapiens (human)
DOID:1911
  • endodermal sinus tumor
  • Aliases:
    • Hepatoid yolk sac tumour
    • Yolk Sac neoplasm
    • Yolk sac tumour
    • endodermal sinus tumour
    • infantile embryonal carcinoma
    • yolk sac tumor
Homo sapiens (human)
DOID:0081378
  • amyotrophic lateral sclerosis type 24
Homo sapiens (human)
DOID:0111588
  • Greenberg dysplasia
  • Aliases:
    • GRBGD
    • Greenberg skeletal dysplasia
    • HEM dysplasia
    • Skeletal dysplasia, Greenberg type
    • autosomal recessive lethal chondrodystrophy with congenital hydrops
    • hydrops, ectopic calcification, moth-eaten skeletal dysplasia
    • hydrops-ectopic calcification-motheaten syndrome
Homo sapiens (human)
DOID:0080037
  • Worth syndrome
  • Aliases:
    • Worth's syndrome
    • autosomal dominant endosteal hyperostosis
    • autosomal dominant osteosclerosis
    • benign form of Worth hyperostosis corticalis generalisata with torus platinus
Homo sapiens (human)
DOID:0050718
  • vitamin metabolic disorder
Homo sapiens (human)
DOID:0070055
  • Xia-Gibbs Syndrome
  • Aliases:
    • MRD25
    • autosomal dominant mental retardation 25
Homo sapiens (human)
DOID:4249
  • Gerstmann-Straussler-Scheinker syndrome
  • Aliases:
    • Gerstmann-Straussler-Scheinker disease
    • PRION DEMENTIA
Homo sapiens (human)
DOID:0110297
  • autosomal recessive limb-girdle muscular dystrophy type 2K
  • Aliases:
    • LGMD2K
    • MDDGC1
    • limb-girdle muscular dystrophy-intellectual disability syndrome
    • muscular dystrophy limb-girdle type 2K
    • muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1
Homo sapiens (human)
DOID:0070539
  • Halperin-Birk syndrome
  • Aliases:
    • HLBKS
    • NEDSOSB
    • NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES
Homo sapiens (human)
DOID:0080768
  • pyridoxine-dependent epilepsy
Homo sapiens (human)
DOID:820
  • myocarditis
  • Aliases:
    • Myocardial inflammation
Homo sapiens (human)
DOID:4031
  • eosinophilic gastroenteritis
Homo sapiens (human)
DOID:0111722
  • amelogenesis imperfecta type 3C
  • Aliases:
    • AI3C
    • amelogenesis imperfecta type IIIC
    • autosomal recessive amelogenesis imperfecta hypocalcification type
Homo sapiens (human)

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Last updated: December 9, 2024