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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 8576 - 8600 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▼ Source
DOID:3114
  • serous cystadenocarcinoma
  • Aliases:
    • serous adenocarcinoma
    • serous carcinoma
Homo sapiens (human)
DOID:0060342
  • acromelic frontonasal dysostosis
Homo sapiens (human)
DOID:0080428
  • developmental and epileptic encephalopathy 45
  • Aliases:
    • DEE45
    • early infantile epileptic encephalopathy 45
Homo sapiens (human)
DOID:0111872
  • nonphotosensitive trichothiodystrophy 6
  • Aliases:
    • TTD6
Homo sapiens (human)
DOID:0070197
  • distal myopathy 1
  • Aliases:
    • Distal myopathy type 1
    • Gowers disease
    • Laing distal myopathy
    • Laing early-onset distal myopathy
    • MPD1
Homo sapiens (human)
DOID:0070123
  • congenital nongoitrous hypothyroidism 4
  • Aliases:
    • CHNG4
    • isolated thyrotropin deficiency
Homo sapiens (human)
DOID:8869
  • neuromyelitis optica
  • Aliases:
    • Devic's disease
    • Devic's syndrome
Homo sapiens (human)
DOID:0090026
  • split hand-foot malformation 6
  • Aliases:
    • SHFM6
Homo sapiens (human)
DOID:10588
  • adrenoleukodystrophy
  • Aliases:
    • ALD
    • Bronze Schilder disease
    • Encephalitis periaxialis concentrica
    • Encephalitis periaxialis, Schilder's
    • Siemerling-Creutzfeldt Disease
    • X-linked adrenoleukodystrophy
    • diffuse sclerosis
    • sudanophilic cerebral sclerosis
Homo sapiens (human)
DOID:0050639
  • primary cutaneous amyloidosis
  • Aliases:
    • PCA
    • familial primary localized cutaneous amyloidosis
Homo sapiens (human)
DOID:14159
  • obstructive hydrocephalus
Homo sapiens (human)
DOID:705
  • Leber hereditary optic neuropathy
  • Aliases:
    • Leber's hereditary optic neuropathy
    • Leber's optic atrophy
Homo sapiens (human)
DOID:0060859
  • salmonellosis
  • Aliases:
    • Salmonella infection
Homo sapiens (human)
DOID:0060797
  • hypomyelinating leukodystrophy 8
  • Aliases:
    • HLD8
Homo sapiens (human)
DOID:0111503
  • Li-Fraumeni syndrome 1
  • Aliases:
    • LFS1
Homo sapiens (human)
DOID:0081001
  • Cowden syndrome 5
Homo sapiens (human)
DOID:0081126
  • DeSanto-Shinawi syndrome
  • Aliases:
    • Chromosome 10p12-p11 deletion syndrome
    • Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion
    • Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation
    • WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome
Homo sapiens (human)
DOID:0050750
  • splenic marginal zone lymphoma
Homo sapiens (human)
DOID:0080490
  • mucolipidosis type IV
Homo sapiens (human)
DOID:0080584
  • autosomal dominant Wolfram syndrome
Homo sapiens (human)
DOID:0081023
  • retinal cone dystrophy 4
Homo sapiens (human)
DOID:0050591
  • tooth agenesis
  • Aliases:
    • familial tooth agenesis
    • hypodontia
    • oligodontia
    • selective tooth agenesis
Homo sapiens (human)
DOID:0080209
  • sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay
  • Aliases:
    • SIFD
Homo sapiens (human)
DOID:0060287
  • cornea plana
  • Aliases:
    • flat cornea
Homo sapiens (human)
DOID:3211
  • lysosomal storage disease
  • Aliases:
    • disorder of lysosomal enzyme
    • inborn lysosomal enzyme disorder
    • lysosomal storage metabolism disorder
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