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 12951 - 12975 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism Source
DOID:0110813
  • hereditary spastic paraplegia 62
  • Aliases:
    • SPG62
    • autosomal recessive spastic paraplegia 62
    • autosomal recessive spastic paraplegia type 62
Xenopus tropicalis (tropical clawed frog)
DOID:0050580
  • hereditary lymphedema
Xenopus tropicalis (tropical clawed frog)
DOID:0060230
  • basal ganglia calcification
  • Aliases:
    • Fahr disease
Xenopus tropicalis (tropical clawed frog)
DOID:0050950
  • autosomal recessive cerebellar ataxia
Homo sapiens (human)
DOID:0070409
  • autosomal recessive spinocerebellar ataxia 28
  • Aliases:
    • SCAR28
Homo sapiens (human)
DOID:0112361
  • spondylocostal dysostosis 3
  • Aliases:
    • SCDO3
    • autosomal recessive spondylocostal dysostosis 3
Xenopus tropicalis (tropical clawed frog)
DOID:0080470
  • developmental and epileptic encephalopathy 36
  • Aliases:
    • congenital disorder of glycosylation, type Is
    • early infantile epileptic encephalopathy 36
Xenopus tropicalis (tropical clawed frog)
DOID:0080693
  • Noonan syndrome-like disorder with loose anagen hair 2
Homo sapiens (human)
DOID:0111481
  • combined oxidative phosphorylation deficiency 11
  • Aliases:
    • COXPD11
    • infantile encephaloneuromyopathy due to mitochondrial translation defect
Homo sapiens (human)
DOID:11984
  • hypertrophic cardiomyopathy
  • Aliases:
    • hypertrophic obstructive cardiomyopathy
Xenopus tropicalis (tropical clawed frog)
DOID:8466
  • retinal degeneration
  • Aliases:
    • degeneration of retina
Xenopus tropicalis (tropical clawed frog)
DOID:3312
  • bipolar disorder
  • Aliases:
    • Manic Bipolar Affective disorder
    • Manic Depressive disorder
    • Manic bipolar I disorder
    • bipolar depression
    • bipolar disorder manic phase
    • manic depression
    • manic disorder
    • mixed bipolar disorder
Xenopus tropicalis (tropical clawed frog)
DOID:0090075
  • hypogonadotropic hypogonadism 15 with or without anosmia
Xenopus tropicalis (tropical clawed frog)
DOID:0080735
  • Ehlers-Danlos syndrome kyphoscoliotic type 2
Homo sapiens (human)
DOID:0070453
  • xanthinuria type II
  • Aliases:
    • XAN2
Homo sapiens (human)
DOID:0070314
  • obstructive nephropathy
  • Aliases:
    • CON
    • congenital obstructive nephropathy
Homo sapiens (human)
DOID:0112137
  • combined oxidative phosphorylation deficiency 51
  • Aliases:
    • COXPD51
Homo sapiens (human)
DOID:2986
  • IgA glomerulonephritis
  • Aliases:
    • Berger's IgA or IgG nephropathy
    • Focal Glomerulonephritis
    • IgA nephropathy
    • primary IgA nephropathy
    • segmental glomerulonephritis
Danio rerio (zebrafish)
DOID:0070256
  • congenital disorder of glycosylation type IId
  • Aliases:
    • CDG IId
    • CDG2D
    • CDGIId
Danio rerio (zebrafish)
DOID:28
  • endocrine system disease
Danio rerio (zebrafish)
DOID:8454
  • riboflavin deficiency
  • Aliases:
    • ariboflavinosis
    • vitamin B2 deficiency
Homo sapiens (human)
DOID:0070339
  • cerebellar hyplasia/atrophy, epilepsy, and global developmental delay
Homo sapiens (human)
DOID:0111446
  • progressive myoclonus epilepsy 3
  • Aliases:
    • CLN14 disease
    • EPM3
    • PME type 3
    • Progressive myoclonic epilepsy due to KCTD7 deficiency
    • Progressive myoclonus epilepsy type 3
    • neuronal ceroid lipofuscinosis 14
Homo sapiens (human)
DOID:12388
  • neurohypophyseal diabetes insipidus
  • Aliases:
    • Pituitary diabetes insipidus
    • Vasopressin deficiency
    • vasopressin defective diabetes insipidus
Homo sapiens (human)
DOID:0110609
  • primary ciliary dyskinesia 23
  • Aliases:
    • CILD23
    • primary ciliary dyskinesia 23 with or without situs inversus
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