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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 6926 - 6950 of 15957 in total
Disease ID Disease Name Gene Symbol ▲ Gene ID Organism Source
DOID:9268
  • glycine encephalopathy
  • Aliases:
    • Non-ketotic hyperglycinemia
    • nonketotic hyperglycinemia
Mus musculus (house mouse)
DOID:0080016
  • spina bifida
Mus musculus (house mouse)
DOID:0080171
  • esophageal atresia/tracheoesophageal fistula
  • Aliases:
    • esophageal atresia and/or tracheoesophageal fistula
    • tracheoesophageal fistula with or without esohageal atresia
Mus musculus (house mouse)
DOID:0110873
  • holoprosencephaly 9
  • Aliases:
    • HPE9
    • holoprosencephaly with microphthalmia and first branchial arch anomalies
    • pituitary anomalies with holoprosencephaly-like features
Mus musculus (house mouse)
DOID:0080328
  • Culler-Jones syndrome
Mus musculus (house mouse)
DOID:1148
  • polydactyly
  • Aliases:
    • postaxial polydactyly
Mus musculus (house mouse)
DOID:11193
  • syndactyly
  • Aliases:
    • symphalangism
    • symphalangy
    • webbing of digits
Mus musculus (house mouse)
DOID:9248
  • Pallister-Hall syndrome
Mus musculus (house mouse)
DOID:14761
  • Greig cephalopolysyndactyly syndrome
  • Aliases:
    • polysyndactyly with peculiars skull shape
Mus musculus (house mouse)
DOID:0060696
  • hyperekplexia 1
  • Aliases:
    • HKPX1
Mus musculus (house mouse)
DOID:0060695
  • hyperekplexia
  • Aliases:
    • Kok disease
    • congenital stiff man syndrome
    • familial startle disease
    • hereditary hyperekplexia
    • startle disease
Mus musculus (house mouse)
DOID:0060695
  • hyperekplexia
  • Aliases:
    • Kok disease
    • congenital stiff man syndrome
    • familial startle disease
    • hereditary hyperekplexia
    • startle disease
Rattus norvegicus (Norway rat)
DOID:0060696
  • hyperekplexia 1
  • Aliases:
    • HKPX1
Rattus norvegicus (Norway rat)
DOID:0070422
  • syndromic X-linked intellectual disability Pilorge type
  • Aliases:
    • MRXSP
Mus musculus (house mouse)
DOID:0070422
  • syndromic X-linked intellectual disability Pilorge type
  • Aliases:
    • MRXSP
Rattus norvegicus (Norway rat)
DOID:0060697
  • hyperekplexia 2
  • Aliases:
    • HKPX2
Mus musculus (house mouse)
DOID:0060697
  • hyperekplexia 2
  • Aliases:
    • HKPX2
Rattus norvegicus (Norway rat)
DOID:0112207
  • developmental and epileptic encephalopathy 71
  • Aliases:
    • DEE71
    • early infantile epileptic encephalopathy 71
    • glutaminase deficiency with neonatal epileptic encephalopathy
Mus musculus (house mouse)
DOID:0112207
  • developmental and epileptic encephalopathy 71
  • Aliases:
    • DEE71
    • early infantile epileptic encephalopathy 71
    • glutaminase deficiency with neonatal epileptic encephalopathy
Rattus norvegicus (Norway rat)
DOID:13413
  • hepatic encephalopathy
  • Aliases:
    • Portal-systemic encephalopathy
Drosophila melanogaster (fruit fly)
DOID:331
  • central nervous system disease
Drosophila melanogaster (fruit fly)
DOID:0060307
  • autosomal dominant intellectual developmental disorder
  • Aliases:
    • autosomal dominant mental retardation
    • autosomal dominant non-syndromic mental retardation
Drosophila melanogaster (fruit fly)
DOID:5418
  • schizoaffective disorder
Drosophila melanogaster (fruit fly)
DOID:0060823
  • syndromic X-linked intellectual disability 94
  • Aliases:
    • MRX94
    • MRXS29
    • mental retardation, X-linked 94
    • syndromic X-linked intellectual disability due to GRIA3 anomalies
    • syndromic X-linked mental retardation 29
    • syndromic X-linked mental retardation Wu type
Drosophila melanogaster (fruit fly)
DOID:670
  • amphetamine abuse
Drosophila melanogaster (fruit fly)
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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