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 4051 - 4075 of 4621 in total
Disease ID Disease Name Gene Symbol ▲ Gene ID Organism
DOID:0111756
  • Leber hereditary optic neuropathy with demyelinating disease of CNS
Homo sapiens (human)
DOID:0050536
  • obsolete SC phocomelia syndrome
  • Aliases:
    • Hypomelia Hypotrichosis Facial hemangioma syndrome
    • SC PSEUDOTHALIDOMIDE SYNDROME
Homo sapiens (human)
DOID:5325
  • Roberts syndrome
  • Aliases:
    • LONG BONE DEFICIENCIES ASSOCIATED WITH CLEFT LIP-PALATE
    • RBS
    • Roberts-Sc Phocomelia Syndrome
    • SC phocomelia syndrome
Homo sapiens (human)
DOID:166
  • melanotic neuroectodermal tumor
  • Aliases:
    • Infantile Melanotic neuroectodermal neoplasm
    • Melanotic neuroectodermal tumor of infancy
    • Melanotic neuroectodermal tumour of infancy
    • Pigmented neuroectodermal tumour of infancy
    • melanotic neuroectodermal tumour
Homo sapiens (human)
DOID:0050581
  • brachydactyly
Homo sapiens (human)
DOID:0110970
  • brachydactyly type C
  • Aliases:
    • BDC
Homo sapiens (human)
DOID:0060362
  • punctate palmoplantar keratoderma type III
  • Aliases:
    • acrokeratoelastoidosis of Costa
    • punctate palmoplantar hyperkeratosis type 3
    • punctate palmoplantar keratoderma type 3
Homo sapiens (human)
DOID:2231
  • factor XII deficiency
  • Aliases:
    • Factor XII deficiency disease
    • Hageman Factor deficiency
    • deficiency, Hageman
Homo sapiens (human)
DOID:0070253
  • congenital disorder of glycosylation type IIa
  • Aliases:
    • Alkuraya syndrome
    • CDG IIa
    • CDG2A
    • CDGIIa
    • CDGS2
    • carbohydrate-deficient glycoprotein syndrome, type II
    • congenital disorder of glycosylation, type IIa
    • mental retardation, growth retardation, prominent columella, and open mouth
Homo sapiens (human)
DOID:0070194
  • autosomal recessive chronic granulomatous disease 3
  • Aliases:
    • CDG3
    • autosomal recessive chronic granulomatous disease cytochrome b-positive type III
    • autosomal recessive cytochrome b-positive CGD type III
    • chronic granulomatous disease due to NCF4 deficiency
Homo sapiens (human)
DOID:5605
  • breast medullary carcinoma
  • Aliases:
    • Medullary breast carcinoma with lymphoid Stroma
Homo sapiens (human)
DOID:1751
  • malignant conjunctival melanoma
  • Aliases:
    • Conjunctival melanoma
    • malignant melanoma of conjunctiva
Homo sapiens (human)
DOID:0112333
  • pontocerebellar hypoplasia type 16
  • Aliases:
    • PCH16
Homo sapiens (human)
DOID:8456
  • choline deficiency disease
  • Aliases:
    • choline deficiency
Homo sapiens (human)
DOID:402
  • oral tuberculosis
Homo sapiens (human)
DOID:0080021
  • Schmid metaphyseal chondrodysplasia
  • Aliases:
    • Japanese type spondylometaphyseal dysplasia
    • Schmid type metaphyseal dysplasia
Homo sapiens (human)
DOID:0090126
  • branched-chain keto acid dehydrogenase kinase deficiency
  • Aliases:
    • BCKDK deficiency
    • BCKDKD
    • autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
Homo sapiens (human)
DOID:0060742
  • methylmalonic acidemia cblA type
  • Aliases:
    • methylmalonic aciduria cblA type
    • methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cb1A type
Homo sapiens (human)
DOID:0060741
  • methylmalonic acidemia due to transcobalamin receptor defect
  • Aliases:
    • methylmalonic acidemia, TCblR type
    • methylmalonic aciduria due to transcobalamin receptor defect
Homo sapiens (human)
DOID:0050818
  • transcobalamin II deficiency
  • Aliases:
    • TCN2 deficiency
Homo sapiens (human)
DOID:0060743
  • methylmalonic acidemia cblB type
  • Aliases:
    • methylmalonic aciduria cblB type
    • methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type
Homo sapiens (human)
DOID:0080566
  • congenital disorder of glycosylation In
  • Aliases:
    • congenital disorder of glycosylation 1n
Homo sapiens (human)
DOID:0070254
  • congenital disorder of glycosylation type IIb
  • Aliases:
    • CDG IIb
    • CDG2B
    • CDGIIb
    • glucosidase I deficiency
Homo sapiens (human)
DOID:2776
  • adamantinoma
  • Aliases:
    • adamantinoma of long bones
Homo sapiens (human)
DOID:0080554
  • congenital disorder of glycosylation Ib
  • Aliases:
    • congenital disorder of glycosylation 1b
Homo sapiens (human)

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Last updated: August 19, 2024