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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 9626 - 9650 of 15957 in total
Disease ID Disease Name Gene Symbol ▲ Gene ID Organism Source
DOID:0110480
  • autosomal recessive nonsyndromic deafness 22
  • Aliases:
    • DFNB22
    • autosomal recessive deafness 22
Mus musculus (house mouse)
DOID:0110474
  • autosomal recessive nonsyndromic deafness 18B
  • Aliases:
    • DFNB18B
    • autosomal recessive deafness 18B
Mus musculus (house mouse)
DOID:0110530
  • autosomal recessive nonsyndromic deafness 84B
  • Aliases:
    • DFNB84B
    • autosomal recessive deafness 84B
Mus musculus (house mouse)
DOID:0070339
  • cerebellar hyplasia/atrophy, epilepsy, and global developmental delay
Rattus norvegicus (Norway rat)
DOID:0070339
  • cerebellar hyplasia/atrophy, epilepsy, and global developmental delay
Mus musculus (house mouse)
DOID:0110567
  • autosomal dominant nonsyndromic deafness 41
  • Aliases:
    • DFNA41
    • autosomal dominant deafness 41
Homo sapiens (human)
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
Rattus norvegicus (Norway rat)
DOID:0110567
  • autosomal dominant nonsyndromic deafness 41
  • Aliases:
    • DFNA41
    • autosomal dominant deafness 41
Mus musculus (house mouse)
DOID:0060692
  • platelet-type bleeding disorder 8
  • Aliases:
    • ADP platelet receptor P2Y12 defect
    • P2Y12 defect
Rattus norvegicus (Norway rat)
DOID:0060692
  • platelet-type bleeding disorder 8
  • Aliases:
    • ADP platelet receptor P2Y12 defect
    • P2Y12 defect
Mus musculus (house mouse)
DOID:0110336
  • osteogenesis imperfecta type 8
  • Aliases:
    • OI8
    • osteogenesis imperfecta type VIII
Homo sapiens (human)
DOID:0110336
  • osteogenesis imperfecta type 8
  • Aliases:
    • OI8
    • osteogenesis imperfecta type VIII
Rattus norvegicus (Norway rat)
DOID:0110336
  • osteogenesis imperfecta type 8
  • Aliases:
    • OI8
    • osteogenesis imperfecta type VIII
Mus musculus (house mouse)
DOID:0060438
  • Cole-Carpenter syndrome
Homo sapiens (human)
DOID:11719
  • oculopharyngeal muscular dystrophy
  • Aliases:
    • Muscular dystrophy, oculopharyngeal
Homo sapiens (human)
DOID:0080722
  • Kenny-Caffey syndrome type 1
Saccharomyces cerevisiae S288C
DOID:0060348
  • hypoparathyroidism-retardation-dysmorphism syndrome
  • Aliases:
    • HRD syndrome
    • Sanjad-Sakati syndrome
    • hypoparathyroidism with short stature, mental retardation and seizures
Saccharomyces cerevisiae S288C
DOID:11199
  • hypoparathyroidism
Saccharomyces cerevisiae S288C
DOID:0070047
  • Schuurs-Hoeijmakers Syndrome
  • Aliases:
    • MRD17
    • SHMS
    • autosomal dominant mental retardation 17
Homo sapiens (human)
DOID:0080446
  • developmental and epileptic encephalopathy 66
  • Aliases:
    • DEE66
    • early infantile epileptic encephalopathy 66
Homo sapiens (human)
DOID:0112237
  • lissencephaly 1
  • Aliases:
    • LIS1
    • PAFAH1B1-related lissencephaly
Homo sapiens (human)
DOID:0112051
  • non-syndromic X-linked intellectual disability 30
  • Aliases:
    • MRX30
    • MRX47
    • X-linked mental retardation 30
    • X-linked mental retardation 30/47
    • X-linked mental retardation 47
Homo sapiens (human)
DOID:0111094
  • Fanconi anemia complementation group N
  • Aliases:
    • FANCN
Homo sapiens (human)
DOID:0110734
  • neurodegeneration with brain iron accumulation
  • Aliases:
    • NBIA
Saccharomyces cerevisiae S288C
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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