GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB), DisGeNET, and Alliance of Genome Resources is integrated into one list.

Source Last Updated
Alliance of Genome Resources July 29, 2024
DisGeNET July 29, 2024
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 1126 - 1150 of 7942 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism
DOID:0080140
  • multiple congenital anomalies-hypotonia-seizures syndrome 3
  • Aliases:
    • M syndrome
    • light fixation seizure syndrome
Homo sapiens (human)
DOID:1701
  • steroid inherited metabolic disorder
Homo sapiens (human)
DOID:0110312
  • hypertrophic cardiomyopathy 6
  • Aliases:
    • CMH6
    • cardiomyopathy, familial hypertrophic 6
Homo sapiens (human)
DOID:0090101
  • lethal congenital glycogen storage disease of heart
  • Aliases:
    • fatal congenital hypertrophic cardiomyopathy due to GSD
    • fatal congenital hypertrophic cardiomyopathy due to glycogenosis
    • fatal congenital nonlysosomal cardiac glycogenosis
    • phosphorylase kinase deficiency of heart
Homo sapiens (human)
DOID:0050959
  • spinocerebellar ataxia type 8
Homo sapiens (human)
DOID:8590
  • acute vascular insufficiency of intestine
  • Aliases:
    • acute GIT vascular insuffic.
    • acute gastrointestinal tract vascular insuffic.
    • acute intestinal Ischemia
    • acute intestinal vascular insufficiency
Homo sapiens (human)
DOID:0112300
  • spondylometaphyseal dysplasia with cone-rod dystrophy
  • Aliases:
    • SMD-CRD
    • SMDCRD
    • spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
Homo sapiens (human)
DOID:4193
  • intracranial thrombosis
  • Aliases:
    • cerebral thrombosis
Homo sapiens (human)
DOID:0080028
  • spondyloepimetaphyseal dysplasia, Strudwick type
Homo sapiens (human)
DOID:0060688
  • arteriovenous malformations of the brain
  • Aliases:
    • cerebral arteriovenous malformation
    • intracranial arteriovenous malformation
Homo sapiens (human)
DOID:0090021
  • split hand-foot malformation 1
  • Aliases:
    • SHFD1
    • SHFM1
Homo sapiens (human)
DOID:0080283
  • developmental and epileptic encephalopathy 55
  • Aliases:
    • DEE55
    • GPIBD14
    • early infantile epileptic encephalopathy 55
    • glycosylphosphatidylinositol biosynthesis defect 14
Homo sapiens (human)
DOID:4022
  • ureterocele
Homo sapiens (human)
DOID:963
  • episodic ataxia
  • Aliases:
    • Isaacs syndrome
Homo sapiens (human)
DOID:0080382
  • nephrotic syndrome type 3
  • Aliases:
    • early onset nephrotic syndrome type 3
Homo sapiens (human)
DOID:0111258
  • pentosuria
  • Aliases:
    • L-xylulose reductase deficiency
    • L-xylulosuria
    • PNTSU
    • essential pentosuria
    • xylitol dehydrogenase deficiency
Homo sapiens (human)
DOID:9432
  • renal glycosuria
  • Aliases:
    • renal diabetes
Homo sapiens (human)
DOID:0081385
  • ataxia-telangiectasia-like disorder-2
  • Aliases:
    • PCNA-related progressive neurodegenerative photosensitivity syndrome
Homo sapiens (human)
DOID:0080178
  • mucositis
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:0111756
  • Leber hereditary optic neuropathy with demyelinating disease of CNS
Homo sapiens (human)
DOID:11126
  • acquired thrombocytopenia
  • Aliases:
    • secondary thrombocytopenia
Homo sapiens (human)
DOID:0050797
  • peroxisomal acyl-CoA oxidase deficiency
  • Aliases:
    • Peroxisomal acyl-coenzyme A oxidase
Homo sapiens (human)
DOID:0070516
  • Mitchell syndrome
Homo sapiens (human)
DOID:859
  • holocarboxylase synthetase deficiency
  • Aliases:
    • Biotin-(propionyl-CoA-carboxylase) ligase deficiency
    • Multiple carboxylase deficiency - neonatal 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: August 19, 2024