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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 11551 - 11575 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism Source
DOID:0050963
  • spinocerebellar ataxia type 13
Mus musculus (house mouse)
DOID:0111447
  • progressive myoclonus epilepsy 7
  • Aliases:
    • EPM7
    • MEAK
    • Myoclonus epilepsy and ataxia due to potassium channel mutation
    • PME type 7
    • Progressive myoclonic epilepsy due to KV3.1 deficiency
    • Progressive myoclonus epilepsy type 7
Mus musculus (house mouse)
DOID:0080461
  • developmental and epileptic encephalopathy 26
  • Aliases:
    • DEE26
    • early infantile epileptic encephalopathy 26
Mus musculus (house mouse)
DOID:0080569
  • congenital disorder of glycosylation Ir
  • Aliases:
    • congenital disorder of glycosylation 1r
Homo sapiens (human)
DOID:0080732
  • Ehlers-Danlos syndrome classic-like 2
Homo sapiens (human)
DOID:0060410
  • chromosome 1p36 deletion syndrome
  • Aliases:
    • 1p36 deletion syndrome
    • deletion 1p36
    • monosomy 1p36
Mus musculus (house mouse)
DOID:0050650
  • familial atrial fibrillation
  • Aliases:
    • ATFB
Mus musculus (house mouse)
DOID:0080416
  • developmental and epileptic encephalopathy 32
  • Aliases:
    • DEE32
    • early infantile epileptic encephalopathy 32
Mus musculus (house mouse)
DOID:0050989
  • episodic ataxia type 1
Mus musculus (house mouse)
DOID:0080551
  • Naxos disease
Mus musculus (house mouse)
DOID:0110083
  • arrhythmogenic right ventricular dysplasia 12
  • Aliases:
    • ARVC12
    • ARVD12
    • arrhythmogenic right ventricular cardiomyopathy 12
    • familial arrhythmogenic right ventricular dysplasia 12
Mus musculus (house mouse)
DOID:4603
  • epidermolytic hyperkeratosis
  • Aliases:
    • Bullous ichthyosiform erythroderma
    • Epidermolytic palmoplantar hyperkeratosis
    • epidermolytic ichthyosis
Mus musculus (house mouse)
DOID:0080365
  • endometrial hyperplasia
Mus musculus (house mouse)
DOID:11252
  • microcytic anemia
Homo sapiens (human)
DOID:9245
  • Alagille syndrome
  • Aliases:
    • Alagille-Watson syndrome
    • Arteriohepatic dysplasia
Mus musculus (house mouse)
DOID:0111578
  • Gillespie syndrome
  • Aliases:
    • GLSP
    • aniridia, cerebellar ataxia and mental deficiency
    • aniridia-cerebellar ataxia-intellectual disability syndrome
Mus musculus (house mouse)
DOID:0050965
  • spinocerebellar ataxia type 15
  • Aliases:
    • spinocerebellar ataxia type 16
Mus musculus (house mouse)
DOID:0050978
  • spinocerebellar ataxia type 29
Mus musculus (house mouse)
DOID:0060319
  • cardiac arrest
  • Aliases:
    • cardiopulmonary arrest
    • circulatory arrest
Mus musculus (house mouse)
DOID:1441
  • autosomal dominant cerebellar ataxia
  • Aliases:
    • spinocerebellar ataxia
Mus musculus (house mouse)
DOID:0070030
  • ITM2B-related cerebral amyloid angiopathy 2
  • Aliases:
    • Cerebellar Ataxia, Cataract, Deafness, and Dementia Or Psychosis
    • FDD
    • Familial Danish Dementia
    • HOOE
    • Heredopathia Ophthalmootoencephalica
Mus musculus (house mouse)
DOID:0070029
  • ITM2B-related cerebral amyloid angiopathy 1
  • Aliases:
    • Cerebral Amyloid Angiopathy, British Type
    • FBD
    • Familial British Dementia
    • Presenile Dementia with Spastic Ataxia
Mus musculus (house mouse)
DOID:0080572
  • congenital disorder of glycosylation Iw
  • Aliases:
    • congenital disorder of glycosylation 1w
Mus musculus (house mouse)
DOID:0110064
  • amelogenesis imperfecta type 1H
  • Aliases:
    • AI1H
    • amelogenesis imperfecta type IH
Mus musculus (house mouse)
DOID:0050427
  • xeroderma pigmentosum
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