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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 14526 - 14550 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism Source
DOID:0081209
  • autosomal recessive intellectual developmental disorder 45
Homo sapiens (human)
DOID:0080564
  • congenital disorder of glycosylation Il
  • Aliases:
    • congenital disorder of glycosylation 1l
Homo sapiens (human)
DOID:0080597
  • Kleefstra syndrome
Homo sapiens (human)
DOID:0060858
  • hypotonia-cystinuria syndrome
  • Aliases:
    • cystinuria with mitochondrial disease
Homo sapiens (human)
DOID:0080059
  • autosomal recessive spinocerebellar ataxia 7
  • Aliases:
    • SCAR7
Danio rerio (zebrafish)
DOID:0110726
  • neuronal ceroid lipofuscinosis 2
  • Aliases:
    • CLN2
    • neuronal ceroid lipofuscinosis 2 variable age at onset
Danio rerio (zebrafish)
DOID:341
  • peripheral vascular disease
  • Aliases:
    • arterial occlusive disease
Danio rerio (zebrafish)
DOID:0111072
  • myostatin-related muscle hypertrophy
  • Aliases:
    • MSLHP
Danio rerio (zebrafish)
DOID:0070418
  • vertebral hypersegmentation and orofacial anomalies
  • Aliases:
    • VHO
Danio rerio (zebrafish)
DOID:767
  • muscular atrophy
  • Aliases:
    • Amyotrophia
    • Muscle wasting
    • Wasting - muscle
Danio rerio (zebrafish)
DOID:0070122
  • Meckel syndrome 8
  • Aliases:
    • MKS8
    • Meckel-Gruber syndrome, type 8
Homo sapiens (human)
DOID:0110993
  • Joubert syndrome 24
  • Aliases:
    • JBTS24
Homo sapiens (human)
DOID:0080470
  • developmental and epileptic encephalopathy 36
  • Aliases:
    • congenital disorder of glycosylation, type Is
    • early infantile epileptic encephalopathy 36
Homo sapiens (human)
DOID:0081217
  • autosomal recessive intellectual developmental disorder 56
Homo sapiens (human)
DOID:0081183
  • autosomal recessive intellectual developmental disorder 7
Homo sapiens (human)
DOID:0111917
  • spermatogenic failure 43
  • Aliases:
    • SPGF43
Homo sapiens (human)
DOID:0070062
  • Arboleda-Tham syndrome
  • Aliases:
    • ARTHS
    • MRD32
    • autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
    • autosomal dominant mental retardation 32
    • autosomal dominant non-syndromic intellectual disability 32
Homo sapiens (human)
DOID:0050573
  • 2-hydroxyglutaric aciduria
Homo sapiens (human)
DOID:0050574
  • L-2-hydroxyglutaric aciduria
  • Aliases:
    • L-2-HYDROXYGLUTARIC ACIDEMIA
Homo sapiens (human)
DOID:0080473
  • developmental delay and seizures with or without movement abnormalities
Homo sapiens (human)
DOID:0110352
  • retinitis pigmentosa 59
  • Aliases:
    • RP59
Homo sapiens (human)
DOID:0110839
  • Usher syndrome type 2C
  • Aliases:
    • USH2C
    • Usher syndrome IIC
    • Usher syndrome type IIC
Homo sapiens (human)
DOID:0111635
  • autosomal recessive nonsyndromic deafness 57
  • Aliases:
    • DFNB57
    • autosomal recessive deafness 57
Homo sapiens (human)
DOID:0112160
  • autosomal dominant nonsyndromic deafness 79
  • Aliases:
    • DFNA79
Homo sapiens (human)
DOID:0070473
  • Zaki 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