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 51 - 75 of 4621 in total
Disease ID Disease Name Gene Symbol ▼ Gene ID Organism
DOID:5850
  • inferior myocardial infarction
Homo sapiens (human)
DOID:3274
  • proliferative type fibrocystic change of breast
  • Aliases:
    • Fibrocystic change, proliferative type with atypia
    • Fibrocystic disease, Proliferative type with Atypia
    • Proliferating Lesion of breast without Atypia
    • Proliferating Lesion of the breast without Atypia
    • Proliferative Fibrocystic Change
Homo sapiens (human)
DOID:0060063
  • sideroblastic anemia 1
  • Aliases:
    • X-linked sideroblastic anaemia
    • X-linked sideroblastic anemia
    • XLSA
    • sideroblastic anaemia 1
Homo sapiens (human)
DOID:0110006
  • 3-methylglutaconic aciduria type 4
  • Aliases:
    • 3-methylglutaconic aciduria type IV
    • MGA type IV
    • MGA4
    • MGCA4
Homo sapiens (human)
DOID:2889
  • retrocochlear disease
Homo sapiens (human)
DOID:0080128
  • mitochondrial DNA depletion syndrome 9
  • Aliases:
    • fatal infantile lactic acidosis
Homo sapiens (human)
DOID:0080124
  • mitochondrial DNA depletion syndrome 5
  • Aliases:
    • succinate-CoA ligase deficiency
Homo sapiens (human)
DOID:0080573
  • congenital disorder of glycosylation Ix
  • Aliases:
    • congenital disorder of glycosylation 1x
Homo sapiens (human)
DOID:0080572
  • congenital disorder of glycosylation Iw
  • Aliases:
    • congenital disorder of glycosylation 1w
Homo sapiens (human)
DOID:1166
  • palindromic rheumatism
  • Aliases:
    • Hench's syndrome
    • Hench-Rosenberg syndrome
Homo sapiens (human)
DOID:0050633
  • ocular albinism 1
  • Aliases:
    • Albinism ocular 1
    • ocular albinism
Homo sapiens (human)
DOID:0060470
  • salt and pepper syndrome
  • Aliases:
    • salt & pepper syndrome
    • salt-and-pepper syndrome
Homo sapiens (human)
DOID:0090047
  • paroxysmal nonkinesigenic dyskinesia 2
Homo sapiens (human)
DOID:0070034
  • autosomal dominant intellectual developmental disorder 4
  • Aliases:
    • MRD4
    • autosomal dominant mental retardation 4
    • autosomal dominant non-syndromic intellectual disability 4
Homo sapiens (human)
DOID:0080414
  • developmental and epileptic encephalopathy 15
  • Aliases:
    • DEE15
    • early infantile epileptic encephalopathy 15
Homo sapiens (human)
DOID:0081180
  • autosomal recessive intellectual developmental disorder 12
Homo sapiens (human)
DOID:0050807
  • Kahrizi syndrome
  • Aliases:
    • KHRZ
    • intellectual disability, Kahrizi type
    • intellectual disability-cataract-coloboma-kyphosis syndrome
Homo sapiens (human)
DOID:7378
  • pituitary hypoplasia
Homo sapiens (human)
DOID:12179
  • tinea corporis
  • Aliases:
    • Dermatophytosis of the trunk
    • dermatophytosis of the body
Homo sapiens (human)
DOID:0070459
  • hereditary spastic paraplegia 90A
  • Aliases:
    • SPG90A
    • autosomal dominant spastic paraplegia 90A
Homo sapiens (human)
DOID:0070460
  • hereditary spastic paraplegia 90B
  • Aliases:
    • SPG90B
    • autosomal recessive spastic paraplegia 90B
Homo sapiens (human)
DOID:0070157
  • hereditary sensory and autonomic neuropathy type 1C
  • Aliases:
    • HSAN1C
    • hereditary sensory and autonomic neuropathy type IC
Homo sapiens (human)
DOID:0081381
  • juvenile amyotrophic lateral sclerosis type 27
Homo sapiens (human)
DOID:0070311
  • oligoasthenoteratozoospermia
  • Aliases:
    • OAT
    • oligoasthenoteratospermia
Homo sapiens (human)
DOID:0081427
  • autosomal recessive distal hereditary motor neuronopathy 8
  • Aliases:
    • SORDD
    • sorbitol dehydrogenase deficiency with peripheral neuropathy
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: August 19, 2024