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 6126 - 6150 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▼ Source
DOID:3389
  • Papillon-Lefevre disease
  • Aliases:
    • Papillon Lefevre syndrome
    • Papillon-Lefvre syndrome
Mus musculus (house mouse)
DOID:0112275
  • developmental and epileptic encephalopathy 93
  • Aliases:
    • DEE93
    • IECEE3
    • infantile or early childhood epileptic encephalopathy 3
Mus musculus (house mouse)
DOID:0110599
  • primary ciliary dyskinesia 3
  • Aliases:
    • CILD3
    • primary ciliary dyskinesia 3 with or without situs inversus
Mus musculus (house mouse)
DOID:1350
  • paranasal sinus benign neoplasm
  • Aliases:
    • neoplasm of accessory sinus
    • tumor of Accessory sinus
Mus musculus (house mouse)
DOID:0060650
  • dicarboxylic aminoaciduria
  • Aliases:
    • glutamate-aspartate transport defect
Mus musculus (house mouse)
DOID:13603
  • obstructive jaundice
  • Aliases:
    • Cholestatic Jaundice
    • Cholestatic jaundice syndrome
    • Obstructive hyperbilirubinemia
Mus musculus (house mouse)
DOID:0050977
  • spinocerebellar ataxia type 28
Mus musculus (house mouse)
DOID:0080533
  • Carney-Stratakis syndrome
Mus musculus (house mouse)
DOID:0110838
  • Usher syndrome type 2A
  • Aliases:
    • USH2A
    • Usher syndrome type IIA
Mus musculus (house mouse)
DOID:0070054
  • Vulto-van Silfout-de Vries syndrome
  • Aliases:
    • IDDISBAS
    • MRD24
    • VSVS
    • autosomal dominant mental retardation 24
    • autosomal dominant non-syndromic intellectual disability 24
    • intellectual developmental disorder with impaired expressive speech and behavioral abnormalities, with or without seizures
Mus musculus (house mouse)
DOID:0050328
  • congenital hypothyroidism
Mus musculus (house mouse)
DOID:0111951
  • immunodeficiency 40
  • Aliases:
    • DOCK2 deficiency
    • IMD40
Mus musculus (house mouse)
DOID:0050933
  • ovarian serous carcinoma
Mus musculus (house mouse)
DOID:0080653
  • urolithiasis
Mus musculus (house mouse)
DOID:3450
  • cutaneous Paget's disease
  • Aliases:
    • Paget's disease of skin
    • cutaneous Paget disease
    • extramammary Paget's disease
Mus musculus (house mouse)
DOID:0090004
  • progressive pseudorheumatoid arthropathy of childhood
  • Aliases:
    • spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome
Mus musculus (house mouse)
DOID:0080820
  • occupational asthma
Mus musculus (house mouse)
DOID:0060674
  • catecholaminergic polymorphic ventricular tachycardia
Mus musculus (house mouse)
DOID:0070352
  • stress-induced childhood-onset neurodegeneration with variable ataxia and seizures
  • Aliases:
    • CONDSIAS
Mus musculus (house mouse)
DOID:0111260
  • phosphoribosylpyrophosphate synthetase superactivity
  • Aliases:
    • PRPP synthetase superactivity
    • PRPS1 superactivity
Mus musculus (house mouse)
DOID:0050425
  • restless legs syndrome
  • Aliases:
    • WED
    • Willis-Ekbom disease
    • Wittmaack-Ekbom syndrome
Mus musculus (house mouse)
DOID:0080686
  • tubular aggregate myopathy 2
Mus musculus (house mouse)
DOID:0080179
  • haemophilus meningitis
Mus musculus (house mouse)
DOID:0060449
  • gelatinous drop-like corneal dystrophy
  • Aliases:
    • GDCD
    • corneal amyloidosis
    • primary familial amyloidosis of the cornea
    • subepithelial amyloidosis of the cornea
Mus musculus (house mouse)
DOID:3371
  • chondrosarcoma
  • Aliases:
    • Cartilaginous cancer
    • chondrosarcoma of bone
    • primary chondrosarcoma of the bone
Mus musculus (house mouse)

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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