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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 3026 - 3050 of 4649 in total
Disease ID Disease Name Gene Symbol Gene ID Organism Source ▼
DOID:0081423
  • familial focal epilepsy with variable foci 3
Homo sapiens (human)
DOID:0081421
  • familial focal epilepsy with variable foci 1
Homo sapiens (human)
DOID:0081419
  • childhood-onset dystonia with optic atrophy and basal ganglia abnormalities
  • Aliases:
    • DYSTONIA 29, CHILDHOOD-ONSET
    • DYTOABG
    • MECR-related neurologic disorder
    • MEPAN syndrome
    • Mitochondrial Enoyl CoA Reductase Protein-Associated Neurodegeneration
Homo sapiens (human)
DOID:0081401
  • autosomal dominant distal hereditary motor neuronopathy 13
Homo sapiens (human)
DOID:0081400
  • autosomal dominant distal hereditary motor neuronopathy 11
Homo sapiens (human)
DOID:0081399
  • autosomal dominant distal hereditary motor neuronopathy 10
Homo sapiens (human)
DOID:0081398
  • holoprosencephaly 12
  • Aliases:
    • holoprosencephaly-12 with or without pancreatic agenesis
Homo sapiens (human)
DOID:0081397
  • Vissers-Bodmer syndrome
Homo sapiens (human)
DOID:0081396
  • neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome
  • Aliases:
    • PHRINL syndrome
Homo sapiens (human)
DOID:0081395
  • Harel-Yoon syndrome
  • Aliases:
    • Ocular anomalies-axonal neuropathy-developmental delay syndrome
Homo sapiens (human)
DOID:0081394
  • Caroli syndrome
Homo sapiens (human)
DOID:0081386
  • TANGO2-related metabolic encephalopathy and arrythmias
  • Aliases:
    • TANGO2 deficiency
    • metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration
Homo sapiens (human)
DOID:0081385
  • ataxia-telangiectasia-like disorder-2
  • Aliases:
    • PCNA-related progressive neurodegenerative photosensitivity syndrome
Homo sapiens (human)
DOID:0081384
  • ataxia-telangiectasia-like disorder-1
Homo sapiens (human)
DOID:0081382
  • amyotrophic lateral sclerosis type 28
Homo sapiens (human)
DOID:0081381
  • juvenile amyotrophic lateral sclerosis type 27
Homo sapiens (human)
DOID:0081378
  • amyotrophic lateral sclerosis type 24
Homo sapiens (human)
DOID:0081373
  • disabling pansclerotic morphea
  • Aliases:
    • disabling pansclerotic morphea of childhood
Homo sapiens (human)
DOID:0081372
  • lacrimoauriculodentodigital syndrome 3
  • Aliases:
    • Lacrimo-auriculo-dento-digital syndrome 3
Homo sapiens (human)
DOID:0081371
  • lacrimoauriculodentodigital syndrome 2
  • Aliases:
    • Lacrimo-auriculo-dento-digital syndrome 2
Homo sapiens (human)
DOID:0081369
  • Paget's disease of bone 6
  • Aliases:
    • Paget disease of bone-6
Homo sapiens (human)
DOID:0081368
  • Paget's disease of bone 5
  • Aliases:
    • Familial osteoectasia
    • Hereditary hyperphosphatasia
    • Hyperostosis corticalis deformans juvenilis
    • Juvenile Paget disease
    • Paget disease of bone-5
Homo sapiens (human)
DOID:0081366
  • Paget's disease of bone 3
  • Aliases:
    • Paget disease of bone-3
Homo sapiens (human)
DOID:0081365
  • Paget's disease of bone 2
  • Aliases:
    • Paget disease of bone-2
Homo sapiens (human)
DOID:0081364
  • neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset
Homo sapiens (human)
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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