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 5351 - 5375 of 7942 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism
DOID:14118
  • familial lipoprotein lipase deficiency
  • Aliases:
    • Fredrickson type I hyperlipoproteinemia
    • Fredrickson type I lipaemia
    • familial LPL deficiency
    • familial hyperlipoproteinemia type I
    • hypercholesterinaemic xanthomatosis
    • hyperchylomicronemia
    • mixed hyperglyceridemia
Homo sapiens (human)
DOID:0080110
  • contractures, pterygia, and spondylocarpotarsal fusion syndrome
  • Aliases:
    • multiple pterygium syndrome
Homo sapiens (human)
DOID:2566
  • corneal dystrophy
Homo sapiens (human)
DOID:8545
  • malignant hyperthermia
  • Aliases:
    • anesthesia related hyperthermia
    • malignant hyperpyrexia due to anesthesia
Homo sapiens (human)
DOID:0050575
  • D-2-hydroxyglutaric aciduria
Homo sapiens (human)
DOID:0111351
  • D-2-hydroxyglutaric aciduria 1
  • Aliases:
    • D2HGA1
Homo sapiens (human)
DOID:8943
  • lattice corneal dystrophy
  • Aliases:
    • familial amyloid neuropathy, Finnish type
Homo sapiens (human)
DOID:1993
  • rectum cancer
  • Aliases:
    • carcinoma of rectum
    • carcinoma of the rectum
    • malignant Rectal tumor
    • malignant neoplasm of rectum
    • malignant rectum tumor
    • malignant tumor of rectum
    • rectal cancer
Mus musculus (house mouse)
DOID:1607
  • hypoglycemic coma
Homo sapiens (human)
DOID:0060639
  • permanent neonatal diabetes mellitus
  • Aliases:
    • PDMI
    • PNDM
    • permanent diabetes mellitus of infancy
Homo sapiens (human)
DOID:1428
  • endocrine pancreas disease
Homo sapiens (human)
DOID:0111102
  • maturity-onset diabetes of the young type 3
  • Aliases:
    • MODY type 3
    • MODY3
Homo sapiens (human)
DOID:0111100
  • maturity-onset diabetes of the young type 2
  • Aliases:
    • MODY glucokinase-related
    • MODY type 2
    • MODY2
Homo sapiens (human)
DOID:0111087
  • Fanconi anemia complementation group C
  • Aliases:
    • FA3
    • FACC
    • FANCC
    • Fanconi pancytopenia type 3
Homo sapiens (human)
DOID:0070216
  • familial hyperinsulinemic hypoglycemia 3
  • Aliases:
    • HHF3
    • hyperinsulinemic hypoglycemia due to glucokinase deficiency
    • hyperinsulinism due to glucokinase deficiency
Homo sapiens (human)
DOID:885
  • fascioliasis
  • Aliases:
    • Fasciola hepatica infection
    • Infection by Fasciola
    • Liver flukes
    • Sheep liver fluke infection
Homo sapiens (human)
DOID:11247
  • disseminated intravascular coagulation
  • Aliases:
    • DIC
    • Defibrination syndrome
    • Diffuse or disseminated intravascular coagulation
Homo sapiens (human)
DOID:0060538
  • purpura fulminans
  • Aliases:
    • purpura gangrenosa
Homo sapiens (human)
DOID:12287
  • Crimean-Congo hemorrhagic fever
  • Aliases:
    • CHF Congo virus
    • Congo-Crimean Hemorrhagic Fever
    • Crimean hemorrhagic fever
Homo sapiens (human)
DOID:0111256
  • hyperferritinemia-cataract syndrome
  • Aliases:
    • Bonneau-Beaumont syndrome
    • HHCS
    • HRFTC
    • cataract-hyperferritinemia syndrome
    • hereditary hyperferritinemia with congenital cataracts
    • hereditary hyperferritinemia-cataract syndrome
    • hyperferritinemia with or without cataract
Homo sapiens (human)
DOID:9252
  • amino acid metabolic disorder
  • Aliases:
    • inborn errors of amino acid metabolism
Homo sapiens (human)
DOID:0070330
  • multiple mitochondrial dysfunctions syndrome
  • Aliases:
    • fatal multiple mitochondrial dysfunction syndrome
Homo sapiens (human)
DOID:0080572
  • congenital disorder of glycosylation Iw
  • Aliases:
    • congenital disorder of glycosylation 1w
Danio rerio (zebrafish)
DOID:417
  • autoimmune disease
  • Aliases:
    • autoimmune hypersensitivity disease
    • hypersensitivity reaction type II disease
Caenorhabditis elegans
DOID:5082
  • liver cirrhosis
  • Aliases:
    • Cirrhosis
    • cirrhosis of liver
Caenorhabditis elegans

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Last updated: August 19, 2024