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 13651 - 13675 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▲ Source
DOID:0112381
  • muscular dystrophy-dystroglycanopathy type C12
  • Aliases:
    • LGMD due to POMK deficiency
    • Limb-girdle muscular dystrophy due to POMK deficiency
    • MDDGC12
    • muscular dystrophy-dystroglycanopathy, limb-girdle, POMK-related
Rattus norvegicus (Norway rat)
DOID:0070376
  • developmental and epileptic encephalopathy 31B
  • Aliases:
    • DEE31B
Rattus norvegicus (Norway rat)
DOID:10325
  • silicosis
  • Aliases:
    • Pneumoconiosis due to silicates
    • Silica pneumoconiosis
    • Silicotic fibrosis of lung
    • silicotuberculosis
Rattus norvegicus (Norway rat)
DOID:0050156
  • idiopathic pulmonary fibrosis
  • Aliases:
    • FIBROCYSTIC PULMONARY DYSPLASIA
    • IDIOPATHIC PULMONARY FIBROSIS, FAMILIAL
    • cryptogenic fibrosing alveolitis
Rattus norvegicus (Norway rat)
DOID:12700
  • hyperprolactinemia
  • Aliases:
    • Chiari-Frommel syndrome
    • Pregnancy-related A-G syndrome
    • hyperprolactinaemia
Rattus norvegicus (Norway rat)
DOID:0111494
  • combined oxidative phosphorylation deficiency 4
  • Aliases:
    • COXPD4
Rattus norvegicus (Norway rat)
DOID:1338
  • congenital dyserythropoietic anemia
  • Aliases:
    • congenital dyshaematopoietic anaemia
Rattus norvegicus (Norway rat)
DOID:2216
  • factor V deficiency
  • Aliases:
    • Hereditary hypoproaccelerinaemia
    • Labile factor deficiency
    • Proaccelerin deficiency
    • deficiency, labile
Rattus norvegicus (Norway rat)
DOID:0070382
  • developmental and epileptic encephalopathy 95
  • Aliases:
    • DEE95
    • early infantile epileptic encephalopathy 95
Rattus norvegicus (Norway rat)
DOID:10113
  • trypanosomiasis
Rattus norvegicus (Norway rat)
DOID:11335
  • sarcoidosis
  • Aliases:
    • Boeck sarcoid
    • lymphogranulomatosis
Rattus norvegicus (Norway rat)
DOID:0050865
  • tongue squamous cell carcinoma
Rattus norvegicus (Norway rat)
DOID:0070266
  • congenital disorder of glycosylation type IIn
  • Aliases:
    • CDG IIn
    • CDG syndrome type IIn
    • CDG2N
    • CDGIIdn
    • Carbohydrate deficient glycoprotein syndrome type IIn
    • Congenital disorder of glycosylation type 2n
    • SLC39A8-CDG
Rattus norvegicus (Norway rat)
DOID:0050696
  • fetal alcohol spectrum disorder
Rattus norvegicus (Norway rat)
DOID:3347
  • osteosarcoma
  • Aliases:
    • Osteogenic sarcoma
    • Skeletal sarcoma
    • bone tissue neoplasm
    • osteoid sarcoma
Rattus norvegicus (Norway rat)
DOID:0110771
  • hereditary spastic paraplegia 18
  • Aliases:
    • IDMDC
    • SPG18
    • autosomal recessive spastic paraplegia 18
    • autosomal recessive spastic paraplegia type 18
    • intellectual disability, motor dysfunction and joint contractures
Rattus norvegicus (Norway rat)
DOID:0110338
  • osteogenesis imperfecta type 17
  • Aliases:
    • OI17
    • osteogenesis imperfecta type XVII
Rattus norvegicus (Norway rat)
DOID:0050466
  • Loeys-Dietz syndrome
Rattus norvegicus (Norway rat)
DOID:0050127
  • sinusitis
Rattus norvegicus (Norway rat)
DOID:0080285
  • developmental and epileptic encephalopathy 58
  • Aliases:
    • DEE58
    • early infantile epileptic encephalopathy 58
Rattus norvegicus (Norway rat)
DOID:0111334
  • congenital leptin deficiency
  • Aliases:
    • LEPD
    • leptin deficiency or dysfunction
    • obesity due to congenital leptin deficiency
Rattus norvegicus (Norway rat)
DOID:0050784
  • primary progressive multiple sclerosis
  • Aliases:
    • PPMS
    • Primary-progressive MS
Rattus norvegicus (Norway rat)
DOID:9719
  • neovascular inflammatory vitreoretinopathy
  • Aliases:
    • ADNIV
    • Retinitis proliferans
    • autosomal dominant neovascular inflammatory vitreoretinopathy
    • proliferative vitreoretinopathy
Rattus norvegicus (Norway rat)
DOID:640
  • encephalomyelitis
  • Aliases:
    • Encephalitis &/or myelitis
Rattus norvegicus (Norway rat)
DOID:0080445
  • developmental and epileptic encephalopathy 13
  • Aliases:
    • DEE13
    • early infantile epileptic encephalopathy 13
Rattus norvegicus (Norway rat)

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Last updated: December 9, 2024