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 2276 - 2300 of 7942 in total
Disease ID Disease Name Gene Symbol ▲ Gene ID Organism
DOID:10247
  • pleurisy
Homo sapiens (human)
DOID:0060253
  • scapuloperoneal myopathy
Homo sapiens (human)
DOID:0080821
  • exercise-induced bronchoconstriction
  • Aliases:
    • exercise-induced asthma
Homo sapiens (human)
DOID:2123
  • tularemia
Homo sapiens (human)
DOID:0040091
  • autoimmune pancreatitis
Homo sapiens (human)
DOID:14261
  • fragile X syndrome
  • Aliases:
    • FRAGILE X MENTAL RETARDATION SYNDROME
    • MARKER X SYNDROME
    • MARTIN-BELL SYNDROME
Homo sapiens (human)
DOID:14227
  • azoospermia
Homo sapiens (human)
DOID:6039
  • uveal melanoma
  • Aliases:
    • melanoma of Uvea
Homo sapiens (human)
DOID:1825
  • childhood absence epilepsy
  • Aliases:
    • petit mal seizure
    • pyknolepsy
Homo sapiens (human)
DOID:0070309
  • absence epilepsy
Homo sapiens (human)
DOID:0060706
  • X-linked lymphoproliferative syndrome 2
  • Aliases:
    • XIAP deficiency
    • XLP2
Homo sapiens (human)
DOID:3247
  • rhabdomyosarcoma
Homo sapiens (human)
DOID:13200
  • substernal goiter
  • Aliases:
    • Retrosternal thyroid goiter
    • Retrosternal thyroid goitre
    • substernal goitre
Homo sapiens (human)
DOID:13198
  • endemic goiter
  • Aliases:
    • Iodine-deficiency-related endemic goitre
    • simple goitre
Homo sapiens (human)
DOID:0110914
  • infantile hypophosphatasia
  • Aliases:
    • Hops
    • phosphoethanolaminuria
Homo sapiens (human)
DOID:0110913
  • adult hypophosphatasia
  • Aliases:
    • mild hypophosphatasia
Homo sapiens (human)
DOID:205
  • hyperostosis
  • Aliases:
    • bone hypertrophy
    • hypertrophy of bone
Homo sapiens (human)
DOID:0111063
  • hyperphosphatemic familial tumoral calcinosis
  • Aliases:
    • HFTC
    • HHS
    • PHPTC
    • cortical hyperostosis with hyperphosphatemia
    • familial Teutschlaender disease
    • familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome
    • hypercalcemic tumoral calcinosis
    • hyperostosis with hyperphosphatemia
    • hyperphosphatemia hyperostosis
    • hyperphosphatemia hyperostosis syndrome
    • hyperphosphatemia tumoral calcinosis
    • lipocalcinogranulomatosis
    • morbus Teutschlaender
    • primary hyperphosphatemic tumoral calcinosis
    • tumoral calcinosis with hyperphosphatemia
Homo sapiens (human)
DOID:0110347
  • osteogenesis imperfecta type 15
  • Aliases:
    • OI15
    • osteogenesis imperfecta type XV
Homo sapiens (human)
DOID:0110344
  • osteogenesis imperfecta type 5
  • Aliases:
    • OI5
    • osteogenesis imperfecta type V
Homo sapiens (human)
DOID:0110345
  • osteogenesis imperfecta type 16
  • Aliases:
    • OI16
    • chromosome 11p11.2 deletion syndrome 91.3-KB
    • osteogenesis imperfecta type XVI
Homo sapiens (human)
DOID:0110346
  • osteogenesis imperfecta type 10
  • Aliases:
    • OI10
    • osteogenesis imperfecta type X
Homo sapiens (human)
DOID:0110335
  • osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures
Homo sapiens (human)
DOID:0110339
  • osteogenesis imperfecta type 3
  • Aliases:
    • OI3
    • osteogenesis imperfecta type III
    • progressively deforming osteogenesis imperfecta with normal sclera
Homo sapiens (human)
DOID:0110338
  • osteogenesis imperfecta type 17
  • Aliases:
    • OI17
    • osteogenesis imperfecta type XVII
Homo sapiens (human)

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024