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 1826 - 1850 of 4621 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism
DOID:4562
  • subacute bacterial endocarditis
  • Aliases:
    • Endocarditis lenta
    • SBE - Subacute bacterial endocarditis
    • Subacute endocarditis, lenta
Homo sapiens (human)
DOID:12185
  • otosclerosis
Homo sapiens (human)
DOID:11294
  • arteriovenous malformation
  • Aliases:
    • Arteriovenous hemangioma
    • Cirsoid aneurysm
    • Racemose Angioma
    • Racemose aneurysm
    • Racemose hemangioma
Homo sapiens (human)
DOID:3651
  • pyruvate carboxylase deficiency disease
  • Aliases:
    • deficiency of pyruvic carboxylase
Homo sapiens (human)
DOID:3649
  • pyruvate decarboxylase deficiency
  • Aliases:
    • deficiency of pyruvic dehydrogenase
    • pyruvate dehydrogenase complex deficiency disease
    • pyruvate dehydrogenase deficiency
Homo sapiens (human)
DOID:0050651
  • atrioventricular septal defect
  • Aliases:
    • AVCD
    • AVSD
    • ECD
    • atrioventricular canal defect
    • endocardial cushion defect
Homo sapiens (human)
DOID:0060445
  • congenital stromal corneal dystrophy
  • Aliases:
    • CSCD
    • congenital hereditary stromal dystrophy
Homo sapiens (human)
DOID:0060452
  • posterior amorphous corneal dystrophy
  • Aliases:
    • PACD
    • chromosome 12q21.33 deletion syndrome
Homo sapiens (human)
DOID:13945
  • CADASIL
  • Aliases:
    • cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
    • hereditary multi-infarct dementia
Homo sapiens (human)
DOID:0111035
  • CADASIL 1
  • Aliases:
    • autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 1
Homo sapiens (human)
DOID:4680
  • breast metaplastic carcinoma
  • Aliases:
    • Metaplastic carcinoma of the breast
Homo sapiens (human)
DOID:4959
  • epidermolysis bullosa dystrophica
  • Aliases:
    • Dystrophic epidermolysis bullosa
Homo sapiens (human)
DOID:0060642
  • recessive dystrophic epidermolysis bullosa
  • Aliases:
    • RDEB, Hallopeau-Siemens type
    • autosomal recessive dystrophic epidermolysis bullosa generalisata gravis
    • autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type
Homo sapiens (human)
DOID:0060887
  • ossification of the posterior longitudinal ligament of spine
  • Aliases:
    • OPLL
Homo sapiens (human)
DOID:14292
  • vulvar dystrophy
  • Aliases:
    • Dystrophy of vulva
Homo sapiens (human)
DOID:4305
  • bone giant cell tumor
  • Aliases:
    • Giant cell neoplasm of bone
    • Giant cell tumor of bone
    • Giant cell tumour of bone
    • bone giant cell tumour
Homo sapiens (human)
DOID:8549
  • chronic ulcer of skin
  • Aliases:
    • Callous ulcer
    • Indolent ulcer
Homo sapiens (human)
DOID:0110338
  • osteogenesis imperfecta type 17
  • Aliases:
    • OI17
    • osteogenesis imperfecta type XVII
Homo sapiens (human)
DOID:0110341
  • osteogenesis imperfecta type 2
  • Aliases:
    • OI2
    • Vrolik type of osteogenesis imperfecta
    • osteogenesis imperfecta type II
    • perinatal lethal osteogenesis imperfecta congenita
Homo sapiens (human)
DOID:0110336
  • osteogenesis imperfecta type 8
  • Aliases:
    • OI8
    • osteogenesis imperfecta type VIII
Homo sapiens (human)
DOID:0110346
  • osteogenesis imperfecta type 10
  • Aliases:
    • OI10
    • osteogenesis imperfecta type X
Homo sapiens (human)
DOID:0110342
  • osteogenesis imperfecta type 13
  • Aliases:
    • OI13
    • osteogenesis imperfecta type XIII
Homo sapiens (human)
DOID:0110348
  • osteogenesis imperfecta type 12
  • Aliases:
    • OI12
    • osteogenesis imperfecta type XII
Homo sapiens (human)
DOID:0110343
  • osteogenesis imperfecta type 14
  • Aliases:
    • OI14
    • osteogenesis imperfecta type XIV
Homo sapiens (human)
DOID:0110350
  • osteogenesis imperfecta type 6
  • Aliases:
    • OI6
    • osteogenesis imperfecta type VI
Homo sapiens (human)

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Last updated: August 19, 2024