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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 12026 - 12050 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism Source
DOID:0080456
  • developmental and epileptic encephalopathy 46
  • Aliases:
    • DEE46
    • early infantile epileptic encephalopathy 46
Mus musculus (house mouse)
DOID:0080444
  • developmental and epileptic encephalopathy 27
  • Aliases:
    • DEE27
    • early infantile epileptic encephalopathy 27
Mus musculus (house mouse)
DOID:0070036
  • autosomal dominant intellectual developmental disorder 6
  • Aliases:
    • MRD6
    • autosomal dominant mental retardation 6
    • autosomal dominant non-syndromic intellectual disability 6
Mus musculus (house mouse)
DOID:4377
  • egg allergy
  • Aliases:
    • Allergy to eggs
Mus musculus (house mouse)
DOID:0070038
  • autosomal dominant intellectual developmental disorder 8
  • Aliases:
    • MRD8
    • autosomal dominant mental retardation 8
    • autosomal dominant non-syndromic intellectual disability 8
Mus musculus (house mouse)
DOID:0070387
  • developmental and epileptic encephalopathy 101
  • Aliases:
    • DEE101
    • early infantile epileptic encephalopathy 101
Mus musculus (house mouse)
DOID:0080042
  • autosomal recessive spinocerebellar ataxia 18
  • Aliases:
    • SCAR18
Mus musculus (house mouse)
DOID:5418
  • schizoaffective disorder
Mus musculus (house mouse)
DOID:0081235
  • autosomal recessive intellectual developmental disorder 76
Mus musculus (house mouse)
DOID:331
  • central nervous system disease
Mus musculus (house mouse)
DOID:0111424
  • branchiootorenal syndrome 2
  • Aliases:
    • BOR2
Homo sapiens (human)
DOID:14702
  • branchiootorenal syndrome
  • Aliases:
    • Branchio-Oto-renal syndrome
    • Branchio-otorenal dysplasia
    • Melnick-Fraser syndrome
    • branchiootorenal dysplasia
Homo sapiens (human)
DOID:0111621
  • Temtamy syndrome
  • Aliases:
    • Temtamy-Shalash syndrome
    • craniofacial dysmorphism with ocular coloboma absent corpus callosum and aortic dilatation
    • craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome
    • dysmorphism, corpus callosum agenesis and colobomas
Mus musculus (house mouse)
DOID:14681
  • Silver-Russell syndrome
  • Aliases:
    • Silver Russell Dwarfism
Mus musculus (house mouse)
DOID:0111363
  • Heinz body anemia
Mus musculus (house mouse)
DOID:13328
  • diabetic cataract
  • Aliases:
    • Cataract - diabetic
Mus musculus (house mouse)
DOID:0050859
  • hemorrhagic cystitis
Mus musculus (house mouse)
DOID:0080108
  • myoglobinuria
Mus musculus (house mouse)
DOID:11724
  • limb-girdle muscular dystrophy
  • Aliases:
    • Erb's muscular dystrophy
    • Leyden-Mbius muscular dystrophy
    • limb girdle muscular dystrophy
Mus musculus (house mouse)
DOID:9669
  • senile cataract
Mus musculus (house mouse)
DOID:0050776
  • non-syndromic X-linked intellectual disability
  • Aliases:
    • non-specific X-linked mental retardation
Homo sapiens (human)
DOID:2738
  • pseudoxanthoma elasticum
  • Aliases:
    • Gronblad-Strandberg syndrome
Mus musculus (house mouse)
DOID:285
  • hairy cell leukemia
Mus musculus (house mouse)
DOID:1099
  • alpha thalassemia
  • Aliases:
    • Alpha thalassaemia
    • alpha-Thalassemia
Mus musculus (house mouse)
DOID:0080922
  • bilateral frontoparietal polymicrogyria
Mus musculus (house mouse)
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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