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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 1676 - 1700 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism Source
DOID:9286
  • priapism
  • Aliases:
    • Mentulagra
Mus musculus (house mouse)
DOID:0080977
  • aortic valve disease 3
Mus musculus (house mouse)
DOID:0111274
  • CODAS syndrome
  • Aliases:
    • cerebral, ocular, dental, auricular, and skeletal syndrome
    • cerebro-oculo-dento-auriculo-skeletal syndrome
Mus musculus (house mouse)
DOID:0110446
  • dilated cardiomyopathy 1W
  • Aliases:
    • CMD1W
Homo sapiens (human)
DOID:0110321
  • hypertrophic cardiomyopathy 15
  • Aliases:
    • CMH15
    • cardiomyopathy familial hypertrophic 15
Homo sapiens (human)
DOID:0111478
  • combined oxidative phosphorylation deficiency 20
  • Aliases:
    • COXPD20
Homo sapiens (human)
DOID:0111406
  • Fraser syndrome 3
  • Aliases:
    • FRASRS3
Mus musculus (house mouse)
DOID:0060473
  • Kabuki syndrome
  • Aliases:
    • KMS
    • Kabuki make up syndrome
    • Niikawa-Kuroki syndrome
Homo sapiens (human)
DOID:0060194
  • amyotrophic lateral sclerosis type 2
  • Aliases:
    • ALS2
    • amyotrophic lateral sclerosis 2
    • amyotrophic lateral sclerosis 2, juvenile
Mus musculus (house mouse)
DOID:0110373
  • retinitis pigmentosa 61
  • Aliases:
    • RP61
Homo sapiens (human)
DOID:0110841
  • Usher syndrome type 3A
  • Aliases:
    • USH3A
    • Usher syndrome type IIIA
Homo sapiens (human)
DOID:0110828
  • Usher syndrome type 3
  • Aliases:
    • USH3
Homo sapiens (human)
DOID:13711
  • dental fluorosis
  • Aliases:
    • Intrinsic enamel discolouration of fluorosis
    • Mottled teeth
    • Mottling of enamel
Mus musculus (house mouse)
DOID:0111438
  • optic atrophy 5
  • Aliases:
    • OPA5
Mus musculus (house mouse)
DOID:0070347
  • encephalopathy due to defective mitochondrial and peroxisomal fission 1
Mus musculus (house mouse)
DOID:0110360
  • retinitis pigmentosa 39
  • Aliases:
    • RP39
Homo sapiens (human)
DOID:0110827
  • Usher syndrome type 2
  • Aliases:
    • USH2
Homo sapiens (human)
DOID:0110838
  • Usher syndrome type 2A
  • Aliases:
    • USH2A
    • Usher syndrome type IIA
Homo sapiens (human)
DOID:13271
  • cutaneous porphyria
  • Aliases:
    • Erythropoietic porphyria
Homo sapiens (human)
DOID:0111139
  • mitochondrial complex III deficiency
Homo sapiens (human)
DOID:0080114
  • mitochondrial complex III deficiency nuclear type 5
Homo sapiens (human)
DOID:0070332
  • multiple mitochondrial dysfunctions syndrome 6
Homo sapiens (human)
DOID:0112332
  • pontocerebellar hypoplasia type 13
  • Aliases:
    • PCH13
Homo sapiens (human)
DOID:0060759
  • immunodeficiency with hyper IgM type 5
  • Aliases:
    • HIGM5
    • hyper-IgM syndrome 5
    • hyper-IgM syndrome due to UNG deficiency
    • hyper-IgM syndrome due to uracil N-glycosylase
Homo sapiens (human)
DOID:11702
  • dysgammaglobulinemia
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