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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 5651 - 5675 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism Source
DOID:0080418
  • developmental and epileptic encephalopathy 54
  • Aliases:
    • DEE54
    • early infantile epileptic encephalopathy 54
Caenorhabditis elegans
DOID:0080322
  • polycystic kidney disease
Caenorhabditis elegans
DOID:0060340
  • ciliopathy
Caenorhabditis elegans
DOID:0110859
  • polycystic kidney disease 2
  • Aliases:
    • Apkd2
    • Pkd2
    • Polycystic Kidney Disease, Adult, Type II
Caenorhabditis elegans
DOID:0110336
  • osteogenesis imperfecta type 8
  • Aliases:
    • OI8
    • osteogenesis imperfecta type VIII
Caenorhabditis elegans
DOID:0110337
  • osteogenesis imperfecta type 7
  • Aliases:
    • OI7
    • osteogenesis imperfecta type VII
Caenorhabditis elegans
DOID:0060884
  • renal hypomagnesemia 6
  • Aliases:
    • HOMG6
Caenorhabditis elegans
DOID:0111404
  • Jalili syndrome
  • Aliases:
    • Cone rod dystrophy-amelogenesis imperfecta syndrome
    • cone-rod dystrophy and amelogenesis imperfecta
Caenorhabditis elegans
DOID:2975
  • cystic kidney disease
  • Aliases:
    • renal Cyst
Homo sapiens (human)
DOID:14717
  • centronuclear myopathy
  • Aliases:
    • myotubular myopathy
Homo sapiens (human)
DOID:14749
  • methylmalonic acidemia
  • Aliases:
    • methylmalonic aciduria
Mus musculus (house mouse)
DOID:0060740
  • methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
  • Aliases:
    • methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency
    • methylmalonic aciduria mut type
    • vitamin B12-unresponsive methylmalonic aciduria
Mus musculus (house mouse)
DOID:0080217
  • lysosomal acid lipase deficiency
  • Aliases:
    • LAL deficiency
    • LAL-D
Caenorhabditis elegans
DOID:14497
  • Wolman disease
  • Aliases:
    • Acid esterase deficiency
    • Acid lipase deficiency
    • Wolman xanthomatosis
    • Wolman's disease
    • Wolman's or triglyceride storage type III disease
    • Xanthomatosis, familial
    • acute infantile lysosomal acid lipase deficiency
    • complete LAL deficiency
    • complete LIPA deficiency
    • complete cholesterol ester hydrolase deficiency
    • complete lysosomal acid lipase deficiency
Caenorhabditis elegans
DOID:0060717
  • autosomal recessive congenital ichthyosis 8
  • Aliases:
    • ARCI8
    • lamellar ichthyosis 4
    • late-onset lamellar ichthyosis
Caenorhabditis elegans
DOID:14502
  • cholesterol ester storage disease
  • Aliases:
    • CESD
    • partial LAL deficiency
    • partial LIPA deficiency
    • partial cholesterol ester hydrolase deficiency
    • partial lysosomal acid lipase deficiency
Caenorhabditis elegans
DOID:11247
  • disseminated intravascular coagulation
  • Aliases:
    • DIC
    • Defibrination syndrome
    • Diffuse or disseminated intravascular coagulation
Caenorhabditis elegans
DOID:0050831
  • familial encephalopathy with neuroserpin inclusion bodies
  • Aliases:
    • FENIB
Caenorhabditis elegans
DOID:8805
  • intermediate coronary syndrome
  • Aliases:
    • Angina at rest
    • Anginal chest pain at rest
    • Impending infarction
    • Preinfarction angina
    • Unstable angina
    • Worsening angina
Caenorhabditis elegans
DOID:0070524
  • peeling skin syndrome 5
  • Aliases:
    • PSS5
Caenorhabditis elegans
DOID:3755
  • antithrombin III deficiency
  • Aliases:
    • AT III deficiency
    • hereditary thrombophilia due to congenital antithrombin deficiency
Caenorhabditis elegans
DOID:4926
  • bronchiolo-alveolar adenocarcinoma
  • Aliases:
    • Bronchioalveolar lung carcinoma
    • Bronchioloalveolar carcinoma
    • Minimally Invasive Lung Adenocarcinoma
Homo sapiens (human)
DOID:8456
  • choline deficiency disease
  • Aliases:
    • choline deficiency
Homo sapiens (human)
DOID:4531
  • mucoepidermoid carcinoma
  • Aliases:
    • MEC
Homo sapiens (human)
DOID:0070158
  • hereditary sensory neuropathy type 1E
  • Aliases:
    • HSN1E
    • hereditary sensory neuropathy type IE
Homo sapiens (human)
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Last updated: December 9, 2024