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 8226 - 8250 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▲ Source
DOID:5389
  • oxyphilic adenoma
  • Aliases:
    • Follicular adenoma, oxyphilic cell
    • Oncocytoma
Mus musculus (house mouse)
DOID:0060291
  • oculodentodigital dysplasia
  • Aliases:
    • ODD syndrome
Mus musculus (house mouse)
DOID:0080436
  • developmental and epileptic encephalopathy 4
  • Aliases:
    • DEE4
    • early infantile epileptic encephalopathy 4
Mus musculus (house mouse)
DOID:1441
  • autosomal dominant cerebellar ataxia
  • Aliases:
    • spinocerebellar ataxia
Mus musculus (house mouse)
DOID:0080526
  • bronchiectasis 1
Mus musculus (house mouse)
DOID:0060258
  • reticulate acropigmentation of Kitamura
  • Aliases:
    • RAPK
Mus musculus (house mouse)
DOID:0060479
  • Shwachman-Diamond syndrome
  • Aliases:
    • Shwachman syndrome
    • Shwachman-Bodian-Diamond syndrome
    • Shwachman-Diamond type metaphyseal dysplasia
    • pancreatic insufficiency and bone marrow dysfunction
Mus musculus (house mouse)
DOID:10892
  • hypospadias
  • Aliases:
    • familial hypospadias
Mus musculus (house mouse)
DOID:0050854
  • Muckle-Wells syndrome
  • Aliases:
    • MWS
    • neutrophilic urticaria
Mus musculus (house mouse)
DOID:0111425
  • restrictive cardiomyopathy 1
  • Aliases:
    • RCM1
    • familial restrictive cardiomyopathy 1
Mus musculus (house mouse)
DOID:0110023
  • age related macular degeneration 11
  • Aliases:
    • ARMD11
Mus musculus (house mouse)
DOID:0080784
  • urinary tract infection
  • Aliases:
    • UTI
Mus musculus (house mouse)
DOID:0110770
  • hereditary spastic paraplegia 17
  • Aliases:
    • SPG17
    • Silver spastic paraplegia syndrome
    • Silver syndrome
    • autosomal dominant spastic paraplegia 17
    • autosomal dominant spastic paraplegia type 17
    • dHMN5B
    • distal hereditary motor neuropathy type 5B
    • spastic paraplegia with amyotrophy of hands and feet
    • spastic paraplegia-amyotrophy of hands and feet
Mus musculus (house mouse)
DOID:0112379
  • muscular dystrophy-dystroglycanopathy type B4
  • Aliases:
    • MDDGB4
    • congenital muscular dystrophy FKTN-related
Mus musculus (house mouse)
DOID:1350
  • paranasal sinus benign neoplasm
  • Aliases:
    • neoplasm of accessory sinus
    • tumor of Accessory sinus
Mus musculus (house mouse)
DOID:0060296
  • congenital secretory chloride diarrhea 1
  • Aliases:
    • congenital chloride diarrhea finnish type
    • congenital chloride diarrhoea finnish type
    • congenital chloridorrhea
    • congenital secretory chloride diarrhoea 1
Mus musculus (house mouse)
DOID:9574
  • choanal atresia
  • Aliases:
    • Atresia of nares
    • Imperforate nares
    • posterior choanal atresia
Mus musculus (house mouse)
DOID:3753
  • Hermansky-Pudlak syndrome
Mus musculus (house mouse)
DOID:14221
  • abdominal obesity-metabolic syndrome 1
  • Aliases:
    • dysmetabolic syndrome X
    • metabolic syndrome X
Mus musculus (house mouse)
DOID:0081354
  • congenital myopathy 22A
Mus musculus (house mouse)
DOID:2738
  • pseudoxanthoma elasticum
  • Aliases:
    • Gronblad-Strandberg syndrome
Mus musculus (house mouse)
DOID:0110875
  • holoprosencephaly 3
  • Aliases:
    • HLP3
    • HPE3
Mus musculus (house mouse)
DOID:8645
  • subacute delirium
Mus musculus (house mouse)
DOID:13544
  • low tension glaucoma
  • Aliases:
    • Normal tension glaucoma
Mus musculus (house mouse)
DOID:0090141
  • cortisone reductase deficiency 1
  • Aliases:
    • CORTRD1
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