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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 3626 - 3650 of 15957 in total
Disease ID Disease Name Gene Symbol ▼ Gene ID Organism Source
DOID:0081183
  • autosomal recessive intellectual developmental disorder 7
Mus musculus (house mouse)
DOID:0110189
  • Leber congenital amaurosis 15
  • Aliases:
    • LCA15
Mus musculus (house mouse)
DOID:0110381
  • retinitis pigmentosa 14
  • Aliases:
    • RP14
Mus musculus (house mouse)
DOID:0111494
  • combined oxidative phosphorylation deficiency 4
  • Aliases:
    • COXPD4
Rattus norvegicus (Norway rat)
DOID:0111494
  • combined oxidative phosphorylation deficiency 4
  • Aliases:
    • COXPD4
Mus musculus (house mouse)
DOID:0080105
  • microcephaly and chorioretinopathy 1
Mus musculus (house mouse)
DOID:0112242
  • congenital symmetric circumferential skin creases 1
  • Aliases:
    • CSCSC1
Mus musculus (house mouse)
DOID:0090136
  • complex cortical dysplasia with other brain malformations 6
  • Aliases:
    • CDCBM56
Mus musculus (house mouse)
DOID:0112240
  • Leber congenital amaurosis with early-onset deafness
  • Aliases:
    • LCAEOD
Mus musculus (house mouse)
DOID:0060798
  • hypomyelinating leukodystrophy 6
  • Aliases:
    • H-ABC
    • HABC
    • HLD6
    • hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum
    • hypomyelination with atrophy of basal ganglia and cerebellum
Mus musculus (house mouse)
DOID:0090041
  • torsion dystonia 4
Mus musculus (house mouse)
DOID:0081017
  • congenital fibrosis of the extraocular muscles 3A
Mus musculus (house mouse)
DOID:0090137
  • complex cortical dysplasia with other brain malformations 1
  • Aliases:
    • CDCBM1
    • cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
Mus musculus (house mouse)
DOID:0090135
  • complex cortical dysplasia with other brain malformations 5
  • Aliases:
    • CDCBM5
Mus musculus (house mouse)
DOID:0050997
  • cerebellar ataxia, mental retardation and dysequlibrium syndrome
  • Aliases:
    • CAMRQ
    • Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 (CAMRQ1)
    • Uner Tan syndrome
    • VLDLR Cerebellar Hypoplasia
Mus musculus (house mouse)
DOID:0112227
  • tubulinopathy
Mus musculus (house mouse)
DOID:13934
  • facial paralysis
  • Aliases:
    • Facial Palsy
Mus musculus (house mouse)
DOID:0090132
  • complex cortical dysplasia with other brain malformations 7
  • Aliases:
    • CDCBM7
    • polymicrogyria due to TUBB2B mutation
Mus musculus (house mouse)
DOID:0060355
  • amyotrophic lateral sclerosis type 22
  • Aliases:
    • ALS 22
    • amyotrohpic lateral sclerosis 22 with or without frontotemporal dementia
    • amyotrophic lateral sclerosis 22
Mus musculus (house mouse)
DOID:0112234
  • microlissencephaly
Mus musculus (house mouse)
DOID:0112232
  • lissencephaly 3
  • Aliases:
    • LIS3
Mus musculus (house mouse)
DOID:0080918
  • polymicrogyria
Mus musculus (house mouse)
DOID:0080219
  • dystransthyretinemic hyperthyroxinemia
Rattus norvegicus (Norway rat)
DOID:0070466
  • carpal tunnel syndrome 1
  • Aliases:
    • CTS1
Rattus norvegicus (Norway rat)
DOID:0050638
  • transthyretin amyloidosis
  • Aliases:
    • ATTR amyloidosis
    • ATTRm amyloidosis
    • Amyloidosis, hereditary, transthyretin-related
    • Corino de Andrade's disease
    • Familial transthyretin amyloidosis
    • TTR amyloidosis
    • familial amyloid polyneuropathy
    • paramyloidosis
    • transthyretin-related hereditary amyloidosis
Rattus norvegicus (Norway rat)
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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