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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 6326 - 6350 of 15957 in total
Disease ID Disease Name Gene Symbol ▼ Gene ID Organism Source
DOID:0060692
  • platelet-type bleeding disorder 8
  • Aliases:
    • ADP platelet receptor P2Y12 defect
    • P2Y12 defect
Homo sapiens (human)
DOID:0110567
  • autosomal dominant nonsyndromic deafness 41
  • Aliases:
    • DFNA41
    • autosomal dominant deafness 41
Homo sapiens (human)
DOID:0070339
  • cerebellar hyplasia/atrophy, epilepsy, and global developmental delay
Mus musculus (house mouse)
DOID:0070339
  • cerebellar hyplasia/atrophy, epilepsy, and global developmental delay
Rattus norvegicus (Norway rat)
DOID:0110530
  • autosomal recessive nonsyndromic deafness 84B
  • Aliases:
    • DFNB84B
    • autosomal recessive deafness 84B
Mus musculus (house mouse)
DOID:0110474
  • autosomal recessive nonsyndromic deafness 18B
  • Aliases:
    • DFNB18B
    • autosomal recessive deafness 18B
Mus musculus (house mouse)
DOID:0110480
  • autosomal recessive nonsyndromic deafness 22
  • Aliases:
    • DFNB22
    • autosomal recessive deafness 22
Mus musculus (house mouse)
DOID:0110939
  • autosomal recessive osteopetrosis 5
  • Aliases:
    • OPTB5
    • infantile malignant osteopetrosis 3
Mus musculus (house mouse)
DOID:0080319
  • X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia
  • Aliases:
    • XMEN
Drosophila melanogaster (fruit fly)
DOID:0081183
  • autosomal recessive intellectual developmental disorder 7
Drosophila melanogaster (fruit fly)
DOID:0111839
  • congenital disorder of glycosylation Icc
  • Aliases:
    • congenital disorder of glycosylation type Icc
Drosophila melanogaster (fruit fly)
DOID:104
  • bacterial infectious disease
Drosophila melanogaster (fruit fly)
DOID:612
  • primary immunodeficiency disease
  • Aliases:
    • hypoimmunity
    • immune deficiency disorder
    • immunodeficiency syndrome
Drosophila melanogaster (fruit fly)
DOID:0080569
  • congenital disorder of glycosylation Ir
  • Aliases:
    • congenital disorder of glycosylation 1r
Drosophila melanogaster (fruit fly)
DOID:0080930
  • primary localized cutaneous amyloidosis 1
  • Aliases:
    • familial primary localized cutaneous amyloidosis-1
Rattus norvegicus (Norway rat)
DOID:0080930
  • primary localized cutaneous amyloidosis 1
  • Aliases:
    • familial primary localized cutaneous amyloidosis-1
Mus musculus (house mouse)
DOID:14365
  • systemic primary carnitine deficiency disease
  • Aliases:
    • carnitine transporter deficiency
    • carnitine uptake defect
    • deficiency of plasma-membrane carnitine transporter
    • primary carnitine deficiency
    • renal carnitine transport defect
Drosophila melanogaster (fruit fly)
DOID:0080686
  • tubular aggregate myopathy 2
Rattus norvegicus (Norway rat)
DOID:0111976
  • immunodeficiency 9
  • Aliases:
    • CID due to ORAI1 deficiency
    • IMD9
    • combined immunodeficiency due to ORAI1 deficiency
    • immune dysfunction with T-cell inactivation due to calcium entry defect 1
Rattus norvegicus (Norway rat)
DOID:0080686
  • tubular aggregate myopathy 2
Mus musculus (house mouse)
DOID:0111976
  • immunodeficiency 9
  • Aliases:
    • CID due to ORAI1 deficiency
    • IMD9
    • combined immunodeficiency due to ORAI1 deficiency
    • immune dysfunction with T-cell inactivation due to calcium entry defect 1
Mus musculus (house mouse)
DOID:0110372
  • retinitis pigmentosa 4
  • Aliases:
    • RP4
Mus musculus (house mouse)
DOID:0110372
  • retinitis pigmentosa 4
  • Aliases:
    • RP4
Rattus norvegicus (Norway rat)
DOID:11661
  • blue color blindness
  • Aliases:
    • Tritan defect
    • Tritanopia
Rattus norvegicus (Norway rat)
DOID:11661
  • blue color blindness
  • Aliases:
    • Tritan defect
    • Tritanopia
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