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 5451 - 5475 of 7942 in total
Disease ID Disease Name Gene Symbol Gene ID ▲ Organism
DOID:0070435
  • hyperphosphatasia with impaired intellectual development syndrome 3
  • Aliases:
    • GPIBD8
    • HPMRS3
    • glycosylphosphatidylinositol biosynthesis defect 8
    • hyperphosphatasia with mental retardation syndrome 3
Homo sapiens (human)
DOID:0111061
  • familial hypobetalipoproteinemia 2
  • Aliases:
    • FHBL2
    • combined familial hypolipidemia
Homo sapiens (human)
DOID:3664
  • mast cell neoplasm
  • Aliases:
    • Mast cell Proliferative disease
    • mast cell tumor
    • mastocytoma
Homo sapiens (human)
DOID:4659
  • extracutaneous mastocytoma
Homo sapiens (human)
DOID:4658
  • benign mastocytoma
Homo sapiens (human)
DOID:727
  • premenstrual tension
Homo sapiens (human)
DOID:0050579
  • glycogen storage disease XV
  • Aliases:
    • Glycogen storage disease 15
    • Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency
    • glycogen storage disease type XV
Mus musculus (house mouse)
DOID:0070450
  • mitochondrial DNA depletion syndrome 19
Mus musculus (house mouse)
DOID:0060536
  • mitochondrial complex I deficiency
  • Aliases:
    • isolated NADH-CoQ reductase deficiency
    • isolated NADH-coenzyme Q reductase deficiency
    • isolated NADH-ubiquinone reductase deficiency
    • isolated mitochondrial respiratory chain complex I deficiency
Mus musculus (house mouse)
DOID:0070329
  • mitochondrial DNA depletion syndrome
  • Aliases:
    • mtDNA depletion syndrome
Mus musculus (house mouse)
DOID:0060475
  • myoclonic-atonic epilepsy
  • Aliases:
    • EEOC
    • childhood onset epileptic encephalopathy
Mus musculus (house mouse)
DOID:0050954
  • spinocerebellar ataxia type 1
Homo sapiens (human)
DOID:1171
  • hyperlipoproteinemia type V
  • Aliases:
    • Fredrickson type V lipaemia
    • familial hyperlipoproteinemia type V
    • familial type 5 hyperlipoproteinemia
Homo sapiens (human)
DOID:8463
  • corneal ulcer
Homo sapiens (human)
DOID:0080440
  • developmental and epileptic encephalopathy 3
  • Aliases:
    • early infantile epileptic encephalopathy 3
Homo sapiens (human)
DOID:0060833
  • Griscelli syndrome type 2
  • Aliases:
    • GS2
    • Griscelli syndrome with hemophagocytic syndrome
    • Griscelli-Prunieras syndrome type 2
    • PAID syndrome
    • hypopigmentation-immunodeficiency with or without neurologic impairment syndrome
    • partial albinism and immunodeficiency syndrome
Homo sapiens (human)
DOID:0111164
  • molybdenum cofactor deficiency type A
  • Aliases:
    • MOCOD type A
    • MOCODA
    • combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A
    • molybdenum cofactor deficiency complementation group A
Homo sapiens (human)
DOID:9280
  • carbamoyl phosphate synthetase I deficiency disease
  • Aliases:
    • CPS I deficiency
Homo sapiens (human)
DOID:11049
  • meconium aspiration syndrome
  • Aliases:
    • Neonatal aspiration of meconium
    • meconium aspiration
Homo sapiens (human)
DOID:0060490
  • Schimke immuno-osseous dysplasia
  • Aliases:
    • Schimke immunoosseous dysplasia
    • Schimke syndrome
    • immunoosseous dysplasia Schimke type
    • spondyloepiphyseal dysplasia - nephrotic syndrome
Homo sapiens (human)
DOID:11244
  • neonatal anemia
  • Aliases:
    • anaemia neonatal
    • anemia neonatal
    • neonatal anaemia
Homo sapiens (human)
DOID:2935
  • Chediak-Higashi syndrome
  • Aliases:
    • CHS
    • Chediak - Steinbrinck anomaly
Homo sapiens (human)
DOID:9631
  • Pelger-Huet anomaly
Homo sapiens (human)
DOID:1795
  • malignant exocrine pancreas neoplasm
  • Aliases:
    • malignant neoplasm of the Exocrine pancreas
    • malignant tumor of exocrine pancreas
    • malignant tumour of exocrine pancreas
Homo sapiens (human)
DOID:13100
  • intracranial vasospasm
Homo sapiens (human)

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Last updated: August 19, 2024