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 626 - 650 of 7942 in total
Disease ID Disease Name Gene Symbol Gene ID ▼ Organism
DOID:0112374
  • muscular dystrophy-dystroglycanopathy
  • Aliases:
    • MDDG
Rattus norvegicus (Norway rat)
DOID:14735
  • hereditary angioedema
  • Aliases:
    • HANE
    • Hereditary angioneurotic edema
Rattus norvegicus (Norway rat)
DOID:0111626
  • D-glyceric aciduria
  • Aliases:
    • D-glycerate kinase deficiency
    • D-glyceric acidemia
    • D-glycericacidemia
    • deficiency of glycerate kinase
    • non ketotic hyperglycinemia syndrome
Rattus norvegicus (Norway rat)
DOID:0112136
  • severe congenital neutropenia 4
  • Aliases:
    • Dursun syndrome
    • SCN4
    • autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
    • severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome
Mus musculus (house mouse)
DOID:0080573
  • congenital disorder of glycosylation Ix
  • Aliases:
    • congenital disorder of glycosylation 1x
Mus musculus (house mouse)
DOID:0112378
  • muscular dystrophy-dystroglycanopathy type B3
  • Aliases:
    • MDDGB3
    • congenital muscular dystrophy POMGNT1-related
Mus musculus (house mouse)
DOID:0111236
  • congenital muscular dystrophy-dystroglycanopathy type A3
  • Aliases:
    • MDDGA3
    • Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related
    • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A3
Mus musculus (house mouse)
DOID:0110292
  • autosomal recessive limb-girdle muscular dystrophy type 2O
  • Aliases:
    • LGMD2O
    • MDDGC3
    • muscular dystrophy-dystroglycanopathy (limb-girdle) type C3
    • muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related
Mus musculus (house mouse)
DOID:0080258
  • autosomal recessive congenital ichthyosis 14
Homo sapiens (human)
DOID:0111258
  • pentosuria
  • Aliases:
    • L-xylulose reductase deficiency
    • L-xylulosuria
    • PNTSU
    • essential pentosuria
    • xylitol dehydrogenase deficiency
Mus musculus (house mouse)
DOID:0050773
  • paraganglioma
  • Aliases:
    • chemodectoma
    • glomus body tumor
Mus musculus (house mouse)
DOID:0050981
  • spinocerebellar ataxia type 34
Homo sapiens (human)
DOID:0111012
  • cone-rod dystrophy 7
  • Aliases:
    • CORD7
Homo sapiens (human)
DOID:0070077
  • schizophrenia 1
  • Aliases:
    • SCZD1
Homo sapiens (human)
DOID:5850
  • inferior myocardial infarction
Homo sapiens (human)
DOID:0110121
  • Axenfeld-Rieger syndrome type 2
  • Aliases:
    • RIEG2
    • Rieger syndrome type 2
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:10787
  • premature menopause
  • Aliases:
    • Menopause - premature
    • Menopause praecox
Mus musculus (house mouse)
DOID:0080470
  • developmental and epileptic encephalopathy 36
  • Aliases:
    • congenital disorder of glycosylation, type Is
    • early infantile epileptic encephalopathy 36
Mus musculus (house mouse)
DOID:0080550
  • Noonan syndrome with multiple lentigines 3
  • Aliases:
    • LEOPARD syndrome 3
Homo sapiens (human)
DOID:6846
  • familial melanoma
Homo sapiens (human)
DOID:5742
  • pancreatic acinar cell adenocarcinoma
  • Aliases:
    • pancreatic acinar cell carcinoma
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)

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Last updated: August 19, 2024