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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 3826 - 3850 of 15957 in total
Disease ID Disease Name Gene Symbol ▼ Gene ID Organism Source
DOID:0112233
  • lissencephaly 8
  • Aliases:
    • LIS8
Mus musculus (house mouse)
DOID:0110527
  • autosomal recessive nonsyndromic deafness 8
  • Aliases:
    • DFNB10
    • DFNB8
    • NRSD8
    • autosomal recessive deafness 10
    • autosomal recessive deafness 8
    • childhood-onset neurosensory autosomal recessive deafness 8
    • neurosensory nonsyndromic recessive deafness 8
Mus musculus (house mouse)
DOID:0111667
  • enterokinase deficiency
  • Aliases:
    • congenital enterokinase deficiency
    • congenital enteropathy due to enteropeptidase deficiency
    • deficiency of enteropeptidase
Mus musculus (house mouse)
DOID:1088
  • meningocele
Mus musculus (house mouse)
DOID:0111118
  • nephronophthisis 11
  • Aliases:
    • NPHP11
Mus musculus (house mouse)
DOID:0070117
  • Meckel syndrome 3
  • Aliases:
    • MKS3
    • Meckel-Gruber syndrome, type 3
Mus musculus (house mouse)
DOID:0111001
  • Joubert syndrome 6
  • Aliases:
    • JBTS6
Mus musculus (house mouse)
DOID:1573
  • communicating hydrocephalus
Mus musculus (house mouse)
DOID:0111589
  • COACH syndrome
  • Aliases:
    • Gentile syndrome
    • JS-H
    • Joubert syndrome with congenital hepatic fibrosis
    • Joubert syndrome with hepatic defect
    • cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis
Mus musculus (house mouse)
DOID:12712
  • nephronophthisis
  • Aliases:
    • medullary cystic disease
    • medullary cystic kidney
Mus musculus (house mouse)
DOID:0070400
  • hypomyelinating leukodystrophy 19
  • Aliases:
    • HLD19
Mus musculus (house mouse)
DOID:0110989
  • Joubert syndrome 20
  • Aliases:
    • JBTS20
Rattus norvegicus (Norway rat)
DOID:4501
  • orofaciodigital syndrome
  • Aliases:
    • oral-facial-digital syndrome
Rattus norvegicus (Norway rat)
DOID:0050778
  • Meckel syndrome
  • Aliases:
    • Meckel-Gruber syndrome
Rattus norvegicus (Norway rat)
DOID:0110989
  • Joubert syndrome 20
  • Aliases:
    • JBTS20
Mus musculus (house mouse)
DOID:0050778
  • Meckel syndrome
  • Aliases:
    • Meckel-Gruber syndrome
Mus musculus (house mouse)
DOID:0110985
  • Joubert syndrome 16
  • Aliases:
    • JBTS16
Mus musculus (house mouse)
DOID:0110985
  • Joubert syndrome 16
  • Aliases:
    • JBTS16
Rattus norvegicus (Norway rat)
DOID:0111634
  • autosomal recessive nonsyndromic deafness 99
  • Aliases:
    • DFNB99
    • autosomal recessive deafness 99
Mus musculus (house mouse)
DOID:0111437
  • optic atrophy 7
  • Aliases:
    • OPA7
    • optic atrophy 7 with or without auditory neuropathy
Rattus norvegicus (Norway rat)
DOID:0080253
  • Meckel syndrome 13
Rattus norvegicus (Norway rat)
DOID:0080254
  • orofaciodigital syndrome XVI
Rattus norvegicus (Norway rat)
DOID:0080253
  • Meckel syndrome 13
Mus musculus (house mouse)
DOID:0080254
  • orofaciodigital syndrome XVI
Mus musculus (house mouse)
DOID:0070405
  • hypomyelinating leukodystrophy 16
  • Aliases:
    • HLD16
Mus musculus (house mouse)
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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