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 3451 - 3475 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▲ Source
DOID:0112147
  • retinitis pigmentosa 90
  • Aliases:
    • RP90
Homo sapiens (human)
DOID:0111452
  • progressive myoclonus epilepsy 1A
  • Aliases:
    • EPM1A
Homo sapiens (human)
DOID:0070016
  • autosomal dominant dyskeratosis congenita 2
  • Aliases:
    • DKCA2
Homo sapiens (human)
DOID:9597
  • Krukenberg carcinoma
  • Aliases:
    • Krukenberg neoplasm
Homo sapiens (human)
DOID:11342
  • arcus senilis
  • Aliases:
    • Arcus of cornea
    • corneal arcus
Homo sapiens (human)
DOID:0060884
  • renal hypomagnesemia 6
  • Aliases:
    • HOMG6
Homo sapiens (human)
DOID:2723
  • dermatitis
  • Aliases:
    • eczema
    • skin inflammation
Homo sapiens (human)
DOID:0060752
  • familial temporal lobe epilepsy 5
  • Aliases:
    • ETL5
Homo sapiens (human)
DOID:0050963
  • spinocerebellar ataxia type 13
Homo sapiens (human)
DOID:0081135
  • agammaglobulinemia 2
Homo sapiens (human)
DOID:3454
  • brain infarction
Homo sapiens (human)
DOID:0111975
  • immunodeficiency 44
  • Aliases:
    • IMD44
Homo sapiens (human)
DOID:0080263
  • autosomal recessive nonsyndromic deafness 108
Homo sapiens (human)
DOID:0060821
  • syndromic X-linked intellectual disability 14
  • Aliases:
    • mental retardation, X-linked, syndromic 14
Homo sapiens (human)
DOID:0110663
  • congenital myasthenic syndrome 1A
  • Aliases:
    • CMS IIa
    • CMS1A
    • congenital myasthenic syndrome 1A, slow-channel
    • congenital myasthenic syndrome type IIa
Homo sapiens (human)
DOID:0080484
  • peroxisome biogenesis disorder 10A
  • Aliases:
    • peroxisome biogenesis disorder 10A (Zellweger)
Homo sapiens (human)
DOID:0080530
  • granular corneal dystrophy 1
  • Aliases:
    • corneal dystrophy, Groenouw type I
Homo sapiens (human)
DOID:0080131
  • mitochondrial DNA depletion syndrome 13
  • Aliases:
    • FBXL4 deficiency
    • FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome
    • mitochondrial DNA depletion syndrome 13, encephalomyopathic type
Homo sapiens (human)
DOID:0070309
  • absence epilepsy
Homo sapiens (human)
DOID:0110664
  • congenital myasthenic syndrome 3C
  • Aliases:
    • congenital myasthenic syndrome 3C associated with acetylcholine receptor deficiency
Homo sapiens (human)
DOID:0080230
  • autosomal dominant intellectual developmental disorder 54
  • Aliases:
    • autosomal dominant mental retardation 54
Homo sapiens (human)
DOID:0111698
  • proprotein convertase 1/3 deficiency
  • Aliases:
    • PCI deficiency
    • obesity and endocrinopathy due to impaired processing of prohormones
    • obesity due to prohormone convertase I deficiency
    • obesity with impaired prohormone processing
Homo sapiens (human)
DOID:0110959
  • Gaucher's disease type III
  • Aliases:
    • GD III
    • Gaucher Disease, Chronic Neuronopathic Type
    • Gaucher Disease, Juvenile And Adult, Cerebral
    • Gaucher Disease, Subacute Neuronopathic Type
Homo sapiens (human)
DOID:0050573
  • 2-hydroxyglutaric aciduria
Homo sapiens (human)
DOID:11198
  • DiGeorge syndrome
  • Aliases:
    • 22q11.2 deletion syndrome
    • DiGeorge sequence
    • DiGeorge's syndrome
    • Pharyngeal pouch syndrome
Homo sapiens (human)

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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