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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 10526 - 10550 of 15957 in total
Disease ID Disease Name Gene Symbol ▲ Gene ID Organism Source
DOID:0110465
  • autosomal recessive nonsyndromic deafness 104
  • Aliases:
    • DFNB104
    • autosomal recessive deafness 104
Homo sapiens (human)
DOID:0111015
  • Newfoundland cone-rod dystrophy
  • Aliases:
    • NFRCD
Homo sapiens (human)
DOID:0050683
  • Bothnia retinal dystrophy
  • Aliases:
    • Vasterbotten dystrophy
Homo sapiens (human)
DOID:526
  • human immunodeficiency virus infectious disease
  • Aliases:
    • HIV infection
Saccharomyces cerevisiae S288C
DOID:0111481
  • combined oxidative phosphorylation deficiency 11
  • Aliases:
    • COXPD11
    • infantile encephaloneuromyopathy due to mitochondrial translation defect
Homo sapiens (human)
DOID:5410
  • pulmonary neuroendocrine tumor
Homo sapiens (human)
DOID:0081007
  • RNASET2-deficient cystic leukoencephalopathy
  • Aliases:
    • cystic leukoencephalopathy without megalencephaly
    • infantile-onset RNASET2 deficient cystic leukoencephalopathy
Homo sapiens (human)
DOID:0112209
  • developmental and epileptic encephalopathy 73
  • Aliases:
    • DEE73
    • early infantile epileptic encephalopathy 73
Homo sapiens (human)
DOID:0090113
  • RIDDLE syndrome
  • Aliases:
    • RNF168 deficiency
    • Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome
Homo sapiens (human)
DOID:0070397
  • hypomyelinating leukodystrophy 23
  • Aliases:
    • HLD23
Homo sapiens (human)
DOID:1932
  • Angelman syndrome
  • Aliases:
    • happy puppet syndrome
    • puppetlike syndrome
Homo sapiens (human)
DOID:0050869
  • villous adenoma
Homo sapiens (human)
DOID:0081007
  • RNASET2-deficient cystic leukoencephalopathy
  • Aliases:
    • cystic leukoencephalopathy without megalencephaly
    • infantile-onset RNASET2 deficient cystic leukoencephalopathy
Saccharomyces cerevisiae S288C
DOID:5410
  • pulmonary neuroendocrine tumor
Saccharomyces cerevisiae S288C
DOID:3721
  • plasmacytoma
  • Aliases:
    • Myeloma - solitary
    • Myeloma, solitary
    • Solitary myeloma
    • Solitary plasmacytoma
Homo sapiens (human)
DOID:0111797
  • autosomal recessive congenital nystagmus
  • Aliases:
    • autosomal recessive congenital motor nystagmus
Homo sapiens (human)
DOID:0080977
  • aortic valve disease 3
Homo sapiens (human)
DOID:0111668
  • Kohlschutter-Tonz syndrome
  • Aliases:
    • KTZS
    • Kohlschutter's syndrome
    • amelocerebrohypohidrotic syndrome
    • epilepsy and yellow teeth
    • epilepsy dementia amelogenesis imperfecta
    • epilepsy-dementia-amelogenesis imperfecta syndrome
Homo sapiens (human)
DOID:0080263
  • autosomal recessive nonsyndromic deafness 108
Homo sapiens (human)
DOID:0110969
  • brachydactyly type B1
  • Aliases:
    • BDB1
Homo sapiens (human)
DOID:0080322
  • polycystic kidney disease
Saccharomyces cerevisiae S288C
DOID:0110860
  • polycystic kidney disease 3
  • Aliases:
    • Apkd3
    • Pkd3
    • Polycystic Kidney Disease, Adult, Type III
Saccharomyces cerevisiae S288C
DOID:0110390
  • retinitis pigmentosa 1
  • Aliases:
    • RP1
Homo sapiens (human)
DOID:0112145
  • retinitis pigmentosa 88
  • Aliases:
    • RP88
Homo sapiens (human)
DOID:0050578
  • occult macular dystrophy
Homo sapiens (human)
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

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