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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 13876 - 13900 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism Source
DOID:0112184
  • thyroid dyshormonogenesis 5
  • Aliases:
    • TDH5
    • genetic defect in thyroid hormonogenesis 5
Mus musculus (house mouse)
DOID:0110792
  • hereditary spastic paraplegia 4
  • Aliases:
    • SPG4
    • autosomal dominant spastic paraplegia 4
    • autosomal dominant spastic paraplegia type 4
Homo sapiens (human)
DOID:0060358
  • multiple acyl-CoA dehydrogenase deficiency
  • Aliases:
    • MAD deficiency
    • MADD
    • electron transfer flavoprotein deficiency
    • electron transfer flavoprotein ubiquinone oxidoreductase deficiency
    • glutaric acidemia type 2
    • glutaric aciduria type 2
Mus musculus (house mouse)
DOID:0081430
  • intellectual developmental disorder with autistic features and language delay, with or without seizures
  • Aliases:
    • IDDALDS
Mus musculus (house mouse)
DOID:0080061
  • autosomal recessive spinocerebellar ataxia 2
  • Aliases:
    • SCAR2
Mus musculus (house mouse)
DOID:0110816
  • hereditary spastic paraplegia 7
  • Aliases:
    • SPG7
    • autosomal recessive spastic paraplegia 7
    • spastic paraplegia type 7
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:0080664
  • diaphyseal medullary stenosis with malignant fibrous histiocytoma
  • Aliases:
    • Hardcastle syndrome
    • bone dysplasia-medullary fibrosarcoma syndrome
    • diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome
Mus musculus (house mouse)
DOID:14701
  • propionic acidemia
  • Aliases:
    • GLYCINEMIA, KETOTIC
    • KETOTIC HYPERGLYCINEMIA
    • ketotic II glycinemia
    • ketotic glycinemia
    • propionic aciduria
    • propionyl-CoA carboxylase deficiency
Mus musculus (house mouse)
DOID:0080253
  • Meckel syndrome 13
Mus musculus (house mouse)
DOID:0080254
  • orofaciodigital syndrome XVI
Mus musculus (house mouse)
DOID:0080114
  • mitochondrial complex III deficiency nuclear type 5
Mus musculus (house mouse)
DOID:0080319
  • X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia
  • Aliases:
    • XMEN
Mus musculus (house mouse)
DOID:0111839
  • congenital disorder of glycosylation Icc
  • Aliases:
    • congenital disorder of glycosylation type Icc
Mus musculus (house mouse)
DOID:0110918
  • hereditary spherocytosis type 3
  • Aliases:
    • HS3
    • SPH3
    • hereditary spherocytosis 3
Homo sapiens (human)
DOID:0080438
  • developmental and epileptic encephalopathy 5
  • Aliases:
    • DEE5
    • early infantile epileptic encephalopathy 5
Homo sapiens (human)
DOID:0081400
  • autosomal dominant distal hereditary motor neuronopathy 11
Homo sapiens (human)
DOID:0112204
  • developmental and epileptic encephalopathy 68
  • Aliases:
    • DEE68
    • early infantile epileptic encephalopathy 68
Mus musculus (house mouse)
DOID:0110917
  • hereditary spherocytosis type 2
  • Aliases:
    • HS2
    • SPH2
    • hereditary spherocytosis 2
Homo sapiens (human)
DOID:5572
  • Beckwith-Wiedemann syndrome
Homo sapiens (human)
DOID:0080058
  • autosomal recessive spinocerebellar ataxia 14
  • Aliases:
    • SCAR14
Homo sapiens (human)
DOID:0050983
  • spinocerebellar ataxia type 36
Mus musculus (house mouse)
DOID:5742
  • pancreatic acinar cell adenocarcinoma
  • Aliases:
    • pancreatic acinar cell carcinoma
Homo sapiens (human)
DOID:0110705
  • hypotrichosis 8
  • Aliases:
    • Hypt8
    • Lah3
    • hypotrichosis, localized, autosomal recessive 3
Mus musculus (house mouse)
DOID:0111069
  • congenital bile acid synthesis defect 2
  • Aliases:
    • CBAS2
    • cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency
Homo sapiens (human)
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Last updated: December 9, 2024