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 201 - 225 of 4621 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism
DOID:0060563
  • Char syndrome
Homo sapiens (human)
DOID:535
  • sleep disorder
  • Aliases:
    • Non-organic sleep disorder
Homo sapiens (human)
DOID:0112251
  • Ghosal hematodiaphyseal syndrome
  • Aliases:
    • Ghosal hematodiaphyseal dysplasia
    • Ghosal syndrome
    • diaphyseal dysplasia-anemia syndrome
Homo sapiens (human)
DOID:0111047
  • platelet-type bleeding disorder 14
  • Aliases:
    • BDPLT14
    • thromboxane synthase deficiency
Homo sapiens (human)
DOID:0111691
  • familial adult myoclonic epilepsy 5
  • Aliases:
    • FAME5
    • FCMTE5
    • familial cortical myoclonic tremor and epilepsy 5
Homo sapiens (human)
DOID:271
  • hemangioma of liver
  • Aliases:
    • Angioma of Liver
    • hepatic angioma
Homo sapiens (human)
DOID:2582
  • acatalasia
  • Aliases:
    • acatalasemia
    • deficiency of catalase
Homo sapiens (human)
DOID:0080258
  • autosomal recessive congenital ichthyosis 14
Homo sapiens (human)
DOID:0111012
  • cone-rod dystrophy 7
  • Aliases:
    • CORD7
Homo sapiens (human)
DOID:0050981
  • spinocerebellar ataxia type 34
Homo sapiens (human)
DOID:0070077
  • schizophrenia 1
  • Aliases:
    • SCZD1
Homo sapiens (human)
DOID:0110121
  • Axenfeld-Rieger syndrome type 2
  • Aliases:
    • RIEG2
    • Rieger syndrome type 2
Homo sapiens (human)
DOID:5850
  • inferior myocardial infarction
Homo sapiens (human)
DOID:520
  • aortic disease
  • Aliases:
    • aortic disorder
    • disorder of the aorta
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:0080550
  • Noonan syndrome with multiple lentigines 3
  • Aliases:
    • LEOPARD syndrome 3
Homo sapiens (human)
DOID:5742
  • pancreatic acinar cell adenocarcinoma
  • Aliases:
    • pancreatic acinar cell carcinoma
Homo sapiens (human)
DOID:6846
  • familial melanoma
Homo sapiens (human)
DOID:0111069
  • congenital bile acid synthesis defect 2
  • Aliases:
    • CBAS2
    • cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency
Homo sapiens (human)
DOID:12179
  • tinea corporis
  • Aliases:
    • Dermatophytosis of the trunk
    • dermatophytosis of the body
Homo sapiens (human)
DOID:0111630
  • familial erythrocytosis 8
  • Aliases:
    • BPGM deficiency
    • DPGM deficiency
    • ECYT8
    • bisphosphoglycerate mutase deficiency
    • bisphosphoglyceromutase deficiency
    • diphosphoglycerate mutase deficiency of erythrocyte
    • hemolytic anemia due to diphosphoglycerate mutase deficiency
Homo sapiens (human)
DOID:0081427
  • autosomal recessive distal hereditary motor neuronopathy 8
  • Aliases:
    • SORDD
    • sorbitol dehydrogenase deficiency with peripheral neuropathy
Homo sapiens (human)
DOID:0081376
  • obsolete sorbitol dehydrogenase deficiency with peripheral neuropathy
Homo sapiens (human)
DOID:8553
  • pyoderma gangrenosum
Homo sapiens (human)
DOID:0050169
  • cutaneous lupus erythematosus
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