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 8351 - 8375 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▲ Source
DOID:0060298
  • complement component 4b deficiency
Mus musculus (house mouse)
DOID:0112143
  • retinitis pigmentosa 86
  • Aliases:
    • RP86
Mus musculus (house mouse)
DOID:5520
  • head and neck squamous cell carcinoma
  • Aliases:
    • carcinoma of the head and neck
    • squamous cell carcinoma of the head and neck
    • squamous cell carcinomas of head and neck
Mus musculus (house mouse)
DOID:971
  • tendinitis
Mus musculus (house mouse)
DOID:0111460
  • cardiofaciocutaneous syndrome 1
  • Aliases:
    • CFC1
Mus musculus (house mouse)
DOID:2972
  • renal artery obstruction
Mus musculus (house mouse)
DOID:0080444
  • developmental and epileptic encephalopathy 27
  • Aliases:
    • DEE27
    • early infantile epileptic encephalopathy 27
Mus musculus (house mouse)
DOID:0111576
  • dehydrated hereditary stomatocytosis 1
  • Aliases:
    • PSHK1
    • dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema
    • pseudohyperkalemia edinburgh
    • pseudohyperkalemia familial 1, due to red cell leak
Mus musculus (house mouse)
DOID:0111265
  • Boucher-Neuhauser syndrome
  • Aliases:
    • ataxia-hypogonadism-choroidal dystrophy syndrome
Mus musculus (house mouse)
DOID:0080728
  • Ehlers-Danlos syndrome arthrochalasia type 2
Mus musculus (house mouse)
DOID:0060464
  • Feingold syndrome
  • Aliases:
    • FGLDS
    • MODED syndrome
    • ODED syndrome
    • digital anomalies with short palpebral fissures and atresia of esophagus or duodenum
    • microcephaly-digital anomalies-normal intelligence syndrome
    • microcephaly-oculo-digito-esophageal-duodenal syndrome
    • oculo-digito-esophageal-duodenal syndrome
Mus musculus (house mouse)
DOID:0080030
  • spondyloepimetaphyseal dysplasia, Missouri type
Mus musculus (house mouse)
DOID:0070093
  • schizophrenia 18
  • Aliases:
    • Chromosome 7q36.3 Duplication Syndrome, 362-Kb
    • SCZD18
Mus musculus (house mouse)
DOID:423
  • myopathy
Mus musculus (house mouse)
DOID:0110219
  • Brugada syndrome 2
  • Aliases:
    • BRGDA2
Mus musculus (house mouse)
DOID:0070294
  • primary autosomal recessive microcephaly 10
  • Aliases:
    • MCPH10
Mus musculus (house mouse)
DOID:0110376
  • retinitis pigmentosa 41
  • Aliases:
    • RP41
Mus musculus (house mouse)
DOID:3490
  • Noonan syndrome
  • Aliases:
    • Turner's phenotype, karyotype normal
Mus musculus (house mouse)
DOID:0081340
  • congenital myopathy 2C
Mus musculus (house mouse)
DOID:0080548
  • Noonan syndrome with multiple lentigines 1
  • Aliases:
    • LEOPARD syndrome 1
Mus musculus (house mouse)
DOID:0112198
  • spondyloepimetaphyseal dysplasia with joint laxity type 1
  • Aliases:
    • SEMDJL1
    • spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures
Mus musculus (house mouse)
DOID:589
  • congenital hemolytic anemia
  • Aliases:
    • congenital hemolytic anaemia
    • hereditary hemolytic anaemia
    • hereditary hemolytic anemia
Mus musculus (house mouse)
DOID:11963
  • esophagitis
  • Aliases:
    • acute esophagitis
Mus musculus (house mouse)
DOID:0050994
  • episodic ataxia type 6
Mus musculus (house mouse)
DOID:0110243
  • cataract 46 juvenile-onset
  • Aliases:
    • CTRCT46
    • juvenilae cataract Hutterite type
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