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 101 - 125 of 4621 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism
DOID:775
  • intraocular lymphoma
  • Aliases:
    • primary intraocular lymphoma
Homo sapiens (human)
DOID:14247
  • chronic purulent otitis media
  • Aliases:
    • chronic suppurative otitis media
Homo sapiens (human)
DOID:8478
  • actinomycosis
  • Aliases:
    • Actinomycotic madura foot
    • Actinomycotic mycetema
    • Actinomycotic mycetoma of foot
    • Madura foot due to Actinomadura
    • actinomycotic infection
Homo sapiens (human)
DOID:998
  • eosinophilia-myalgia syndrome
  • Aliases:
    • Eosinophilia myalgia syndrome
Homo sapiens (human)
DOID:11330
  • erysipelas
Homo sapiens (human)
DOID:0050853
  • chronic venous insufficiency
Homo sapiens (human)
DOID:4346
  • variegate porphyria
  • Aliases:
    • Protocoproporphyria
    • Protoporphyrinogen oxidase deficiency
Homo sapiens (human)
DOID:8295
  • scabies
  • Aliases:
    • Infestation by Sarcoptes scabiei
    • Infestation by Sarcoptes scabiei var hominis
    • Sarcoptic itch
Homo sapiens (human)
DOID:0080678
  • mucolipidosis III gamma
Homo sapiens (human)
DOID:0110004
  • 3-methylglutaconic aciduria type 3
  • Aliases:
    • 3-methylglutaconic aciduria type III
    • Costeff optic atrophy syndrome
    • Costeff syndrome
    • Iraqi-Jewish optic atrophy plus
    • MGA3
    • autosomal recessive optic atrophy plus syndrome
    • autosomal recessive optic atrophy type 3
    • infantile optic atrophy with chorea and spastic paraplegia
Homo sapiens (human)
DOID:9888
  • alternating esotropia
Homo sapiens (human)
DOID:0070260
  • congenital disorder of glycosylation type IIh
  • Aliases:
    • CDG IIh
    • CDG2H
    • CDGIIdh
    • COG8-CDG
    • Carbohydrate deficient glycoprotein syndrome type IIh
    • Congenital disorder of glycosylation type 2h
Homo sapiens (human)
DOID:0070267
  • congenital disorder of glycosylation type IIo
  • Aliases:
    • CCDC115-CDG
    • CDG IIo
    • CDG syndrome type IIo
    • CDG2O
    • CDGIIdo
    • Carbohydrate deficient glycoprotein syndrome type IIo
    • Congenital disorder of glycosylation type 2o
Homo sapiens (human)
DOID:0111235
  • congenital muscular dystrophy-dystroglycanopathy type A12
  • Aliases:
    • MDDGA12
    • Walker-Warburg syndrome or muscle-eye-brain disease POMK-related
    • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A12
Homo sapiens (human)
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
Homo sapiens (human)
DOID:0081243
  • rhizomelic chondrodysplasia punctate type 4
Homo sapiens (human)
DOID:2580
  • rhizomelic chondrodysplasia punctata
  • Aliases:
    • Chondrodysplasia Punctata, Rhizomelic Form
Homo sapiens (human)
DOID:0060900
  • Parkinson's disease 14
  • Aliases:
    • Dystonia-Parkinsonism Adult-Onset
    • autosomal recessive Parkinson disease 14
    • autosomal recessive Parkinson's disease 14
Homo sapiens (human)
DOID:0111067
  • congenital bile acid synthesis defect 6
  • Aliases:
    • CBAS6
Homo sapiens (human)
DOID:0081215
  • autosomal recessive intellectual developmental disorder 52
Homo sapiens (human)
DOID:0111146
  • acquired von Willebrand syndrome
  • Aliases:
    • AVWS
Homo sapiens (human)
DOID:7428
  • pineal region germinoma
Homo sapiens (human)
DOID:0050800
  • cerebral creatine deficiency syndrome 1
  • Aliases:
    • CEREBRAL CREATINE DEFICIENCY SYNDROME 1
    • SLC6A8 deficiency
    • creatine transporter deficiency
Homo sapiens (human)
DOID:10022
  • ampulla of Vater benign neoplasm
  • Aliases:
    • tumor of the ampulla of Vater
Homo sapiens (human)
DOID:0070224
  • progressive familial intrahepatic cholestasis 4
  • Aliases:
    • PFIC4
    • TJP2 deficit
Homo sapiens (human)

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Last updated: August 19, 2024