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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 12751 - 12775 of 15957 in total
Disease ID Disease Name Gene Symbol ▲ Gene ID Organism Source
DOID:0080282
  • developmental and epileptic encephalopathy 56
  • Aliases:
    • DEE56
    • early infantile epileptic encephalopathy 56
Mus musculus (house mouse)
DOID:0111943
  • immunodeficiency 48
  • Aliases:
    • IMD48
    • combined immunodeficiency due to ZAP70 deficiency
    • zeta-associated-protein 70 deficiency
Homo sapiens (human)
DOID:0081230
  • autosomal recessive intellectual developmental disorder 69
Homo sapiens (human)
DOID:0080201
  • Peters plus syndrome
  • Aliases:
    • Krause-Kivlin syndrome
    • Peters anomaly-short limb dwarfism syndrome
    • Peters-plus syndrome
Caenorhabditis elegans
DOID:0081217
  • autosomal recessive intellectual developmental disorder 56
Homo sapiens (human)
DOID:0050571
  • congenital disorder of glycosylation type II
Caenorhabditis elegans
DOID:0110857
  • posterior polymorphous corneal dystrophy 3
  • Aliases:
    • Ppcd3
Homo sapiens (human)
DOID:0081075
  • Marsili syndrome
  • Aliases:
    • congenital analgesia
    • congenital insensitivity to pain
Homo sapiens (human)
DOID:4929
  • tubular adenocarcinoma
  • Aliases:
    • tubular carcinoma
Homo sapiens (human)
DOID:0050957
  • spinocerebellar ataxia type 4
Homo sapiens (human)
DOID:0110768
  • hereditary spastic paraplegia 15
  • Aliases:
    • Kjellin syndrome
    • SPG15
    • autosomal recessive spastic paraplegia 15
    • autosomal recessive spastic paraplegia type 15
    • hereditary spastic paraparesis type 15
    • spastic paraplegia and retinal degeneration
    • spastic paraplegia-retinal degeneration syndrome
Homo sapiens (human)
DOID:2785
  • Dandy-Walker syndrome
  • Aliases:
    • Atresia of foramina of Magendie and Luschka
Homo sapiens (human)
DOID:9870
  • galactosemia
  • Aliases:
    • Galactosaemia
    • Galactose intolerance
Caenorhabditis elegans
DOID:0111459
  • classic galactosemia
  • Aliases:
    • GALT deficiency
    • galactose-1-phosphate uridyltransferase deficiency
    • galactosemia type 1
Caenorhabditis elegans
DOID:2978
  • carbohydrate metabolic disorder
  • Aliases:
    • disorder of carbohydrate transport and metabolism
    • inborn carbohydrate metabolism disorder
    • inborn errors of carbohydrate metabolism
Caenorhabditis elegans
DOID:0080554
  • congenital disorder of glycosylation Ib
  • Aliases:
    • congenital disorder of glycosylation 1b
Caenorhabditis elegans
DOID:0070294
  • primary autosomal recessive microcephaly 10
  • Aliases:
    • MCPH10
Homo sapiens (human)
DOID:0111122
  • nephronophthisis 14
  • Aliases:
    • NPHP14
Homo sapiens (human)
DOID:2786
  • cerebellar disease
Homo sapiens (human)
DOID:0081369
  • Paget's disease of bone 6
  • Aliases:
    • Paget disease of bone-6
Homo sapiens (human)
DOID:0060342
  • acromelic frontonasal dysostosis
Homo sapiens (human)
DOID:9281
  • phenylketonuria
  • Aliases:
    • Folling's disease
    • PKU
    • maternal phenylketonuria
    • phenylalaninemia
Saccharomyces cerevisiae S288C
DOID:0050328
  • congenital hypothyroidism
Saccharomyces cerevisiae S288C
DOID:2383
  • neonatal jaundice
  • Aliases:
    • neonatal hyperbilirubinemia
    • neonatal icterus
Saccharomyces cerevisiae S288C
DOID:13628
  • favism
Saccharomyces cerevisiae S288C
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

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