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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 14051 - 14075 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism Source
DOID:9277
  • primary cerebellar degeneration
Mus musculus (house mouse)
DOID:0070411
  • autosomal recessive spinocerebellar ataxia 30
  • Aliases:
    • SCAR30
Mus musculus (house mouse)
DOID:0080612
  • anterior segment dysgenesis 7
Mus musculus (house mouse)
DOID:0080785
  • Brown-Vialetto-Van Laere syndrome 1
Mus musculus (house mouse)
DOID:0080632
  • Fazio-Londe disease
  • Aliases:
    • riboflavin transporter deficiency neuronopathy
Mus musculus (house mouse)
DOID:0080419
  • developmental and epileptic encephalopathy 50
  • Aliases:
    • CDG syndrome type Iz
    • CDG-Iz
    • Carbohydrate deficient glycoprotein syndrome type Iz
    • Congenital disorder of glycosylation type 1z
    • DEE50
    • early infantile epileptic encephalopathy 50
Mus musculus (house mouse)
DOID:0111633
  • congenital sucrase-isomaltase deficiency
  • Aliases:
    • CSID
    • SI deficiency
    • congenital sucrase-isomaltose malabsorption
    • congenital sucrose intolerance
    • disaccharide intolerance
Mus musculus (house mouse)
DOID:0110110
  • atrial heart septal defect 5
  • Aliases:
    • ASD5
    • atrial septal defect 5
Homo sapiens (human)
DOID:0110456
  • dilated cardiomyopathy 1R
  • Aliases:
    • CMD1R
Homo sapiens (human)
DOID:14069
  • cerebral malaria
  • Aliases:
    • Malarial encephalitis
Mus musculus (house mouse)
DOID:0111228
  • Sveinsson chorioretinal atrophy
  • Aliases:
    • HPCD
    • SCRA
    • atrophia areata
    • helicoid peripapillary chorioretinal degeneration
    • peripapillary chorioretinal degeneration, Icelandic type
Homo sapiens (human)
DOID:0110479
  • autosomal recessive nonsyndromic deafness 21
  • Aliases:
    • DFNB21
    • autosomal recessive deafness 21
Homo sapiens (human)
DOID:0110544
  • autosomal dominant nonsyndromic deafness 12
  • Aliases:
    • DFNA12
    • DFNA8
    • autosomal dominant deafness 12
    • autosomal dominant deafness 8
Homo sapiens (human)
DOID:0060304
  • dyschromatosis universalis hereditaria
Mus musculus (house mouse)
DOID:0080141
  • mosaic variegated aneuploidy syndrome 1
Homo sapiens (human)
DOID:0080641
  • tongue carcinoma
Homo sapiens (human)
DOID:12176
  • goiter
  • Aliases:
    • goitre
Homo sapiens (human)
DOID:0050792
  • multiple cutaneous and mucosal venous malformations
  • Aliases:
    • VMCM
    • cutaneomucosal venous malformation
    • mucocutaneous venous malformations
Homo sapiens (human)
DOID:0080268
  • autosomal dominant nonsyndromic deafness 72
Mus musculus (house mouse)
DOID:9513
  • plasma cell leukemia
  • Aliases:
    • plasma cell leukaemia
    • plasmacytic leukaemia
    • plasmacytic leukemia
Homo sapiens (human)
DOID:0070016
  • autosomal dominant dyskeratosis congenita 2
  • Aliases:
    • DKCA2
Homo sapiens (human)
DOID:0060717
  • autosomal recessive congenital ichthyosis 8
  • Aliases:
    • ARCI8
    • lamellar ichthyosis 4
    • late-onset lamellar ichthyosis
Mus musculus (house mouse)
DOID:0050649
  • atransferrinemia
  • Aliases:
    • familial hypotransferrinemia
Homo sapiens (human)
DOID:0080337
  • mitochondrial DNA depletion syndrome 15
Homo sapiens (human)
DOID:12934
  • Kearns-Sayre syndrome
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: December 9, 2024