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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source Last Updated
Alliance of Genome Resources October 9, 2024
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 7201 - 7225 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism Source
DOID:0110813
  • hereditary spastic paraplegia 62
  • Aliases:
    • SPG62
    • autosomal recessive spastic paraplegia 62
    • autosomal recessive spastic paraplegia type 62
Mus musculus (house mouse)
DOID:0080282
  • developmental and epileptic encephalopathy 56
  • Aliases:
    • DEE56
    • early infantile epileptic encephalopathy 56
Mus musculus (house mouse)
DOID:4441
  • dysgerminoma
Homo sapiens (human)
DOID:2938
  • Epstein-Barr virus infectious disease
  • Aliases:
    • EBV Infection
    • Epstein-Barr virus infection
Homo sapiens (human)
DOID:0081289
  • Antley-Bixler syndrome
  • Aliases:
    • Antley Bixler syndrome
    • Antley and Bixler's syndrome
Homo sapiens (human)
DOID:0050660
  • Beare-Stevenson cutis gyrata syndrome
Homo sapiens (human)
DOID:2339
  • Crouzon syndrome
  • Aliases:
    • Craniofacial Dysostosis
Homo sapiens (human)
DOID:0081290
  • Antley-Bixler syndrome without disordered steroidogenesis
Homo sapiens (human)
DOID:7843
  • female breast carcinoma
  • Aliases:
    • Mammary carcinoma of female breast
Homo sapiens (human)
DOID:0110344
  • osteogenesis imperfecta type 5
  • Aliases:
    • OI5
    • osteogenesis imperfecta type V
Mus musculus (house mouse)
DOID:0110009
  • achromatopsia 7
  • Aliases:
    • ACHM7
Mus musculus (house mouse)
DOID:1339
  • Diamond-Blackfan anemia
  • Aliases:
    • Blackfan - Diamond syndrome
    • chronic constitutional pure red cell anaemia
Mus musculus (house mouse)
DOID:5138
  • leiomyomatosis
Homo sapiens (human)
DOID:0111261
  • fumarase deficiency
  • Aliases:
    • FMRD
    • fumaric aciduria
Homo sapiens (human)
DOID:0112068
  • nuclear type mitochondrial complex I deficiency 5
  • Aliases:
    • MC1DN5
Mus musculus (house mouse)
DOID:9280
  • carbamoyl phosphate synthetase I deficiency disease
  • Aliases:
    • CPS I deficiency
Mus musculus (house mouse)
DOID:0080090
  • reducing body myopathy 1A
Homo sapiens (human)
DOID:0070251
  • X-linked Emery-Dreifuss muscular dystrophy 6
  • Aliases:
    • EDMD6
    • Emery-Dreifuss muscular dystrophy 6, X-linked
    • XMPMA
    • myopathy, X-linked, with postural muscle atrophy
Homo sapiens (human)
DOID:0112148
  • Uruguay faciocardiomusculoskeletal syndrome
  • Aliases:
    • FCMSU
Homo sapiens (human)
DOID:0080687
  • reducing body myopathy 1B
Homo sapiens (human)
DOID:0060253
  • scapuloperoneal myopathy
Homo sapiens (human)
DOID:0050561
  • Lennox-Gastaut syndrome
  • Aliases:
    • Lennox syndrome
Mus musculus (house mouse)
DOID:0112240
  • Leber congenital amaurosis with early-onset deafness
  • Aliases:
    • LCAEOD
Mus musculus (house mouse)
DOID:0081097
  • Rafiq syndrome
  • Aliases:
    • MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15
Mus musculus (house mouse)
DOID:0080439
  • developmental and epileptic encephalopathy 14
  • Aliases:
    • DEE14
    • early infantile epileptic encephalopathy 14
Mus musculus (house mouse)
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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: December 9, 2024