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 1451 - 1475 of 4621 in total
Disease ID Disease Name Gene Symbol ▼ Gene ID Organism
DOID:0060888
  • transient myeloproliferative syndrome
  • Aliases:
    • MST
    • TAM
    • transient abnormal myelopoiesis
    • transient leukemia
    • transient leukemia of Down syndrome
    • transient myeloproliferative disease
Homo sapiens (human)
DOID:7439
  • polyp of middle ear
  • Aliases:
    • polyp - middle ear
    • polyp of the middle ear
Homo sapiens (human)
DOID:869
  • cholesteatoma
Homo sapiens (human)
DOID:2106
  • myotonia congenita
  • Aliases:
    • Batten Turner congenital myopathy
    • Thomsen and Becker disease
Homo sapiens (human)
DOID:0050699
  • Dent disease
  • Aliases:
    • Dent disease 1
    • Dent disease 2
    • Dent's disease
Homo sapiens (human)
DOID:0050814
  • temtamy preaxial brachydactyly syndrome
  • Aliases:
    • PREAXIAL BRACHYDACTYLY SYNDROME, TEMTAMY TYPE
Homo sapiens (human)
DOID:12318
  • granular corneal dystrophy
Homo sapiens (human)
DOID:3029
  • colon mucinous adenocarcinoma
  • Aliases:
    • Colonic mucinous adenocarcinoma
Homo sapiens (human)
DOID:0050813
  • spondyloepiphyseal dysplasia with congenital joint dislocations
  • Aliases:
    • CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS
    • CHST3-Related Skeletal Dysplasia
    • Humero-spinal dysostosis with congenital heart disease
    • Kozlowski Celermajer Tink syndrome
    • Omani Type
    • Spondyloepiphyseal Dysplasia
    • humero-spinal dysostosis
    • humerospinal dysostosis
Homo sapiens (human)
DOID:0080036
  • SOST-related sclerosing bone dysplasia
  • Aliases:
    • van Buchem disease
Homo sapiens (human)
DOID:14764
  • Larsen syndrome
  • Aliases:
    • dominant larsen syndrome
Homo sapiens (human)
DOID:4367
  • apparent mineralocorticoid excess syndrome
  • Aliases:
    • 11-beta-hydroxysteroid dehydrogenase deficiency type 2
    • Ulick syndrome
    • cortisol 11-beta-ketoreductase deficiency
    • syndrome of apparent mineralocorticoid excess
Homo sapiens (human)
DOID:4078
  • tricuspid valve stenosis
  • Aliases:
    • Tricuspid stenosis
Homo sapiens (human)
DOID:4080
  • tricuspid valve insufficiency
  • Aliases:
    • Tricuspid incompetence
    • Tricuspid regurgitation
    • Tricuspid valve regurgitation
Homo sapiens (human)
DOID:2634
  • cystadenoma
  • Aliases:
    • Cystoma
Homo sapiens (human)
DOID:0070221
  • progressive familial intrahepatic cholestasis
  • Aliases:
    • PFIC; Byler disease
Homo sapiens (human)
DOID:0060462
  • Desbuquois dysplasia
  • Aliases:
    • Desbuquois syndrome
    • micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification
Homo sapiens (human)
DOID:4624
  • Ollier disease
  • Aliases:
    • DYSCHONDROPLASIA
    • ENCHONDROMATOSIS, MULTIPLE
    • Enchondromatosis with haemangiomata
    • Kast's syndrome
    • OSTEOCHONDROMATOSIS
Homo sapiens (human)
DOID:3076
  • adult astrocytic tumor
  • Aliases:
    • adult astrocytic tumour
    • adult astrocytoma
Homo sapiens (human)
DOID:3079
  • childhood astrocytic tumor
  • Aliases:
    • juvenile astrocytoma
    • pediatric astrocytoma
Homo sapiens (human)
DOID:14775
  • brittle cornea syndrome 1
  • Aliases:
    • type VIB Ehlers-Danlos syndrome
Homo sapiens (human)
DOID:0080736
  • Ehlers-Danlos syndrome musculocontractural type 1
Homo sapiens (human)
DOID:1673
  • pneumothorax
Homo sapiens (human)
DOID:0050469
  • Costello syndrome
  • Aliases:
    • FCS SYNDROME
    • Faciocutaneoskeletal Syndrome
Homo sapiens (human)
DOID:0060235
  • carnitine palmitoyltransferase II deficiency
  • Aliases:
    • CPT-II
    • infantile carnitine palmitoyltransferase II deficiency
    • late-onset carnitine palmitoyltransferase II deficiency
    • lethal neonatal carnitine palmitoyltransferase II deficiency
Homo sapiens (human)

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Last updated: August 19, 2024