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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 12426 - 12450 of 15957 in total
Disease ID Disease Name Gene Symbol ▲ Gene ID Organism Source
DOID:0070376
  • developmental and epileptic encephalopathy 31B
  • Aliases:
    • DEE31B
Saccharomyces cerevisiae S288C
DOID:0110197
  • Charcot-Marie-Tooth disease dominant intermediate B
  • Aliases:
    • CMTDI1
    • CMTDIB
    • Charcot-Marie-Tooth neuropathy dominant intermediate B
    • DI-CMTB
Saccharomyces cerevisiae S288C
DOID:11252
  • microcytic anemia
Saccharomyces cerevisiae S288C
DOID:0111223
  • centronuclear myopathy 1
  • Aliases:
    • CNM1
Saccharomyces cerevisiae S288C
DOID:0060796
  • hypomyelinating leukodystrophy 12
  • Aliases:
    • HLD12
Homo sapiens (human)
DOID:0060939
  • dystonia 32
  • Aliases:
    • DYT32
Homo sapiens (human)
DOID:0111590
  • Cohen syndrome
  • Aliases:
    • COH1
    • Hypotonia, obesity, and prominent incisors
    • Pepper syndrome
Homo sapiens (human)
DOID:0111611
  • autosomal recessive spinocerebellar ataxia 4
  • Aliases:
    • SCA24
    • SCAR4
    • SCASI
    • autosomal recessive cerebellar ataxia-saccadic intrusion syndrome
    • spinocerebellar ataxia 24
    • spinocerebellar ataxia with saccadic intrusions
Homo sapiens (human)
DOID:0050766
  • choreaacanthocytosis
  • Aliases:
    • Levine-Critchley syndrome
    • choreo-acanthocytosis
Homo sapiens (human)
DOID:0060896
  • Parkinson's disease 23
  • Aliases:
    • autosomal recessive early-onset Parkinson disease 23
    • autosomal recessive early-onset Parkinson's disease 23
Homo sapiens (human)
DOID:0060937
  • dystonia 30
  • Aliases:
    • DYT30
Homo sapiens (human)
DOID:0111353
  • arthrogryposis, renal dysfunction, and cholestasis 1
  • Aliases:
    • ARCS1
Homo sapiens (human)
DOID:0060565
  • Ritscher-Schinzel syndrome
  • Aliases:
    • CCC dysplasia
    • craniocerebellocardiac dysplasia
Homo sapiens (human)
DOID:0110805
  • hereditary spastic paraplegia 53
  • Aliases:
    • SPG53
    • autosomal recessive spastic paraplegia 53
    • autosomal recessive spastic paraplegia type 53
Homo sapiens (human)
DOID:0112332
  • pontocerebellar hypoplasia type 13
  • Aliases:
    • PCH13
Homo sapiens (human)
DOID:10487
  • Hirschsprung's disease
  • Aliases:
    • Hirschsprung disease
    • aganglionic megacolon
    • congenital megacolon
    • macrocolon
    • pelvirectal achalasia
    • total intestinal aganglionosis
Saccharomyces cerevisiae S288C
DOID:3138
  • acanthosis nigricans
  • Aliases:
    • keratosis nigricans
Saccharomyces cerevisiae S288C
DOID:1825
  • childhood absence epilepsy
  • Aliases:
    • petit mal seizure
    • pyknolepsy
Saccharomyces cerevisiae S288C
DOID:0090045
  • childhood onset GLUT1 deficiency syndrome 2
Saccharomyces cerevisiae S288C
DOID:0060326
  • myelomeningocele
Saccharomyces cerevisiae S288C
DOID:0060611
  • abdominal obesity-metabolic syndrome
Saccharomyces cerevisiae S288C
DOID:5577
  • gastrinoma
  • Aliases:
    • Gastrin Secreting tumor
    • Gastrin cell tumour
    • malignant gastrinoma
Saccharomyces cerevisiae S288C
DOID:0090044
  • dystonia 9
Saccharomyces cerevisiae S288C
DOID:0111313
  • idiopathic generalized epilepsy 12
  • Aliases:
    • EIG12
Saccharomyces cerevisiae S288C
DOID:255
  • hemangioma
Saccharomyces cerevisiae S288C
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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