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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 6276 - 6300 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▼ Source
DOID:0112210
  • developmental and epileptic encephalopathy 74
  • Aliases:
    • DEE74
    • early infantile epileptic encephalopathy 74
Mus musculus (house mouse)
DOID:365
  • bladder disease
  • Aliases:
    • Urinary Bladder Disease
Mus musculus (house mouse)
DOID:0070043
  • autosomal dominant intellectual developmental disorder 13
  • Aliases:
    • MRD13
    • autosomal dominant mental retardation 13
    • autosomal dominant non-syndromic intellectual disability 13
    • mental retardation, autosomal dominant 13, with neuronal migration defects
Mus musculus (house mouse)
DOID:2129
  • atypical teratoid rhabdoid tumor
  • Aliases:
    • Atypical teratoid/rhabdoid tumor
    • Atypical teratoid/rhabdoid tumour
    • Rhabdoid tumor of the CNS
    • Rhabdoid tumour of the CNS
    • atypical teratoid rhabdoid tumour
Mus musculus (house mouse)
DOID:14323
  • Marfan syndrome
  • Aliases:
    • Marfan's syndrome
Mus musculus (house mouse)
DOID:0050562
  • West syndrome
Mus musculus (house mouse)
DOID:3689
  • brachial plexus neuritis
  • Aliases:
    • Brachial neuritis
    • Parsonage-Aldren-Turner syndrome
Mus musculus (house mouse)
DOID:3388
  • periodontal disease
  • Aliases:
    • disease of supporting structures of teeth
    • periodontium disorder
Mus musculus (house mouse)
DOID:114
  • heart disease
Mus musculus (house mouse)
DOID:0080365
  • endometrial hyperplasia
Mus musculus (house mouse)
DOID:0111510
  • Marshall syndrome
  • Aliases:
    • MRSHS
    • deafness, myopia, cataract, saddle nose-Marshall type
Mus musculus (house mouse)
DOID:5204
  • fructose-1,6-bisphosphatase deficiency
  • Aliases:
    • fructose 1 phosphate aldolase deficiency
    • fructose-1,6-diphosphatase deficiency
Mus musculus (house mouse)
DOID:0081443
  • Stolerman neurodevelopmental syndrome
Mus musculus (house mouse)
DOID:0070490
  • infantile parkinsonism-dystonia 2
  • Aliases:
    • Brain dopamine-serotonin vesicular transport disease
    • PKDYS2
Mus musculus (house mouse)
DOID:0112199
  • spondyloepimetaphyseal dysplasia with joint laxity type 2
  • Aliases:
    • SEMD-MD
    • SEMDJL2
    • spondyloepimetaphyseal dysplasia with joint laxicity, Hall type
    • spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type
    • spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type
Mus musculus (house mouse)
DOID:9643
  • babesiosis
  • Aliases:
    • Babesiasis
    • Infection by babesia
    • piroplasmosis
Mus musculus (house mouse)
DOID:0050436
  • mulibrey nanism
  • Aliases:
    • MUL
    • Mulibrey growth disorder
    • Muscle-Liver-Brain-Eye Nanism
    • PERICARDIAL CONSTRICTION AND GROWTH FAILURE
    • Perheentupa Syndrome
Mus musculus (house mouse)
DOID:0050214
  • Lambert-Eaton myasthenic syndrome
  • Aliases:
    • Eaton-Lambert syndrome
    • LEMS
    • Lambert-Eaton syndrome
Mus musculus (house mouse)
DOID:12259
  • hemophilia B
  • Aliases:
    • Congenital factor IX deficiency
    • Congenital factor IX disorder
    • deficiency, functional factor IX
    • factor IX deficiency
Mus musculus (house mouse)
DOID:0112122
  • X-linked epilepsy with variable learning disabilities and behavior disorders
  • Aliases:
    • X-linked epilepsy-learning disabilities-behavior disorders syndrome
Mus musculus (house mouse)
DOID:0081144
  • common variable immunodeficiency 1
Mus musculus (house mouse)
DOID:1115
  • sarcoma
  • Aliases:
    • connective and soft tissue neoplasm
    • tumor of soft tissue and skeleton
Mus musculus (house mouse)
DOID:1577
  • limited scleroderma
  • Aliases:
    • Limited cutaneous systemic sclerosis
    • systemic sclerosis, limited
Mus musculus (house mouse)
DOID:0060074
  • ductal carcinoma in situ
Mus musculus (house mouse)
DOID:9828
  • neonatal abstinence syndrome
  • Aliases:
    • Drug withdrawal syndrome in newborn
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