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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 226 - 250 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism Source
DOID:0111843
  • Paganini-Miozzo syndrome
  • Aliases:
    • MRXSPM
Homo sapiens (human)
DOID:12720
  • cerebral atherosclerosis
Homo sapiens (human)
DOID:0111729
  • familial episodic pain syndrome 1
  • Aliases:
    • FEPS1
Homo sapiens (human)
DOID:0070174
  • spermatogenic failure 17
  • Aliases:
    • Male infertility due to oocyte activation failure
    • SPGF17
Homo sapiens (human)
DOID:0110192
  • Charcot-Marie-Tooth disease type 4H
  • Aliases:
    • CMT4H
    • Charcot-Marie-Tooth neuropathy type 4H
    • autosomal recessive Charcot-Marie-Tooth disease type 4H
    • autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4H
Homo sapiens (human)
DOID:6683
  • X-linked Aarskog syndrome
  • Aliases:
    • Aarskog-Scott syndrome
    • Greig's syndrome
Homo sapiens (human)
DOID:0112283
  • spondyloepiphyseal dysplasia Kondo-Fu type
  • Aliases:
    • SED with elevated blood lysosomal enzymes
    • SEDKF
Rattus norvegicus (Norway rat)
DOID:13909
  • red-green color blindness
  • Aliases:
    • Deutan defect
    • Deuteranopia
    • Reduced red-green discrimination
Rattus norvegicus (Norway rat)
DOID:13910
  • red color blindness
  • Aliases:
    • Protan defect
    • Protanopia
Rattus norvegicus (Norway rat)
DOID:0050679
  • blue cone monochromacy
Rattus norvegicus (Norway rat)
DOID:649
  • prion disease
  • Aliases:
    • Prion disease pathway
    • Prion protein disease
    • Spongiform Encephalopathy
    • prion induced disorder
    • transmissible spongiform encephalopathy
Rattus norvegicus (Norway rat)
DOID:3247
  • rhabdomyosarcoma
Rattus norvegicus (Norway rat)
DOID:0050876
  • Caroli disease
Rattus norvegicus (Norway rat)
DOID:0080019
  • metaphyseal dysplasia
  • Aliases:
    • Bakwin-Krida syndrome
    • Pyle's disease
    • Pyle-Cohn syndrome
Rattus norvegicus (Norway rat)
DOID:0070338
  • cerebellar hypoplasia
Homo sapiens (human)
DOID:9169
  • Wiskott-Aldrich syndrome
  • Aliases:
    • Wiskott syndrome
Homo sapiens (human)
DOID:0060341
  • agnathia-otocephaly complex
  • Aliases:
    • agnathia-holoprosencephaly-situs inversus syndrome
    • dysgnathia complex agnathia-holoprosencephaly
    • holoprosencephaly-agnathia
    • otocephaly
Homo sapiens (human)
DOID:0081203
  • autosomal recessive intellectual developmental disorder 38
Homo sapiens (human)
DOID:0111742
  • cerebellar ataxia type 42
  • Aliases:
    • SCA42
Homo sapiens (human)
DOID:0090034
  • myoclonic dystonia 11
Homo sapiens (human)
DOID:0110191
  • Charcot-Marie-Tooth disease type 4B1
  • Aliases:
    • CMT4B1
    • Charcot-Marie-Tooth neuropathy type 4B1
    • autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B1
Homo sapiens (human)
DOID:0070371
  • leukoencephalopathy with vanishing white matter 4
Homo sapiens (human)
DOID:0080265
  • nephrotic syndrome type 14
Homo sapiens (human)
DOID:0081364
  • neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
Homo sapiens (human)
DOID:0081366
  • Paget's disease of bone 3
  • Aliases:
    • Paget disease of bone-3
Homo sapiens (human)
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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