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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 January 28, 2025
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 4401 - 4425 of 5716 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism Source
DOID:0110825
  • hereditary spastic paraplegia 9B
  • Aliases:
    • SPG9B
    • autosomal recessive complex spastic paraplegia type 9B
    • autosomal recessive spastic paraplegia 9B
Homo sapiens (human)
DOID:0070132
  • autosomal recessive cutis laxa type IIIA
  • Aliases:
    • ARCL3A
    • De Barsy syndrome A
Homo sapiens (human)
DOID:0112343
  • hereditary spastic paraplegia 82
  • Aliases:
    • SPG82
    • spastic paraplegia 82 autosomal recessive
Homo sapiens (human)
DOID:3650
  • lactic acidosis
Homo sapiens (human)
DOID:2754
  • glycogen storage disease VI
  • Aliases:
    • Glycogen storage disease 6
    • Hers' disease
    • glycogen storage disease type VI
    • hepatic glycogen phosphorylase deficiency
    • hepatophosphorylase deficiency glycogenosis
Homo sapiens (human)
DOID:2746
  • glycogen storage disease V
  • Aliases:
    • Glycogen storage disease 5
    • Glycogen storage disease, type V
    • McArdle's disease
    • glycogen storage disease type V
    • myophosphorylase deficiency
Homo sapiens (human)
DOID:0080598
  • Kleefstra syndrome 2
Homo sapiens (human)
DOID:0080235
  • autosomal dominant intellectual developmental disorder 48
  • Aliases:
    • autosomal dominant mental retardation 48
Homo sapiens (human)
DOID:0112062
  • immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia
  • Aliases:
    • IMD73C
Homo sapiens (human)
DOID:0112064
  • immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis
  • Aliases:
    • IMD73A
    • neutrophil immunodeficiency syndrome
Homo sapiens (human)
DOID:0112061
  • immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia
  • Aliases:
    • IMD73B
Homo sapiens (human)
DOID:9778
  • irritable bowel syndrome
  • Aliases:
    • IBD
    • Irritable colon
Mus musculus (house mouse)
DOID:5683
  • hereditary breast ovarian cancer syndrome
  • Aliases:
    • BRCA1- and BRCA2-associated hereditary breast and ovarian cancer
    • Breast and Ovarian Cancer syndrome
    • HBOC syndrome
    • Hereditary Breast and Ovarian Cancer syndrome
    • Hereditary breast and ovarian cancer
Homo sapiens (human)
DOID:0111096
  • Fanconi anemia complementation group O
  • Aliases:
    • FANCO
Homo sapiens (human)
DOID:0050441
  • mucosulfatidosis
  • Aliases:
    • Sulfatidosis, Juvenile, Austin Type
    • multiple sulfatase deficiency disease
Mus musculus (house mouse)
DOID:0080549
  • Noonan syndrome with multiple lentigines 2
  • Aliases:
    • LEOPARD syndrome 2
Homo sapiens (human)
DOID:0110432
  • dilated cardiomyopathy 1NN
  • Aliases:
    • CMD1NN
Homo sapiens (human)
DOID:0060583
  • Noonan syndrome 5
  • Aliases:
    • NS5
Homo sapiens (human)
DOID:2231
  • factor XII deficiency
  • Aliases:
    • Factor XII deficiency disease
    • Hageman Factor deficiency
    • deficiency, Hageman
Mus musculus (house mouse)
DOID:0050905
  • inflammatory myofibroblastic tumor
Homo sapiens (human)
DOID:12714
  • Ellis-Van Creveld syndrome
  • Aliases:
    • Chondroectodermal dysplasia
    • mesoectodermal dysplasia
Mus musculus (house mouse)
DOID:0081153
  • common variable immunodeficiency 11
Homo sapiens (human)
DOID:3083
  • chronic obstructive pulmonary disease
  • Aliases:
    • COLD
    • COPD
    • chronic obstructive airway disease
    • chronic obstructive lung disease
Rattus norvegicus (Norway rat)
DOID:431
  • myofascial pain syndrome
Rattus norvegicus (Norway rat)
DOID:0111800
  • syndromic microphthalmia 12
  • Aliases:
    • MCOPS12
    • microphthalmia with or without pulmonary hypoplasia, diaphragmatic hernia, and/or cardiac defects
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: March 31, 2025