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 1601 - 1625 of 7942 in total
Disease ID Disease Name Gene Symbol ▼ Gene ID Organism
DOID:0111633
  • congenital sucrase-isomaltase deficiency
  • Aliases:
    • CSID
    • SI deficiency
    • congenital sucrase-isomaltose malabsorption
    • congenital sucrose intolerance
    • disaccharide intolerance
Homo sapiens (human)
DOID:0080265
  • nephrotic syndrome type 14
Homo sapiens (human)
DOID:0050885
  • IMAGe syndrome
  • Aliases:
    • intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities
Homo sapiens (human)
DOID:0080721
  • calvarial doughnut lesions with bone fragility
Homo sapiens (human)
DOID:14498
  • lipoid proteinosis
  • Aliases:
    • Lipid proteinosis
    • URBACH-WIETHE DISEASE
Homo sapiens (human)
DOID:11161
  • neonatal respiratory failure
  • Aliases:
    • respiratory failure of newborn
Homo sapiens (human)
DOID:2801
  • nonspecific interstitial pneumonia
  • Aliases:
    • NSIP
Homo sapiens (human)
DOID:0050157
  • cryptogenic organizing pneumonia
  • Aliases:
    • BOOP
    • Cryptogenic organising pneumonitis
    • Cryptogenic organizing pneumonitis
    • bronchiolitis obliterans organising pneumonia
    • bronchiolitis obliterans organizing pneumonia
    • cryptogenic organising pneumonia
    • idiopathic bronchiolitis obliterans with organising pneumonia
    • idiopathic bronchiolitis obliterans with organizing pneumonia
Homo sapiens (human)
DOID:96
  • staphyloenterotoxemia
  • Aliases:
    • Staphylococcal food poisoning
    • Staphylococcal toxaemia due to food
    • staphyloenterotoxicosis
Homo sapiens (human)
DOID:0060311
  • adenoid hypertrophy
  • Aliases:
    • adenoidal hypertrophy
    • enlarged adenoids
Homo sapiens (human)
DOID:14265
  • pulmonary valve insufficiency
  • Aliases:
    • Pulmonic insufficiency
    • Pulmonic valve regurgitation
    • pulmonary incompetence
    • pulmonary incompetence, non-rheumatic
    • pulmonary insufficiency following trauma and surgery
    • pulmonary regurg.
    • pulmonary regurgitation
Homo sapiens (human)
DOID:0112349
  • hereditary spastic paraplegia 81
  • Aliases:
    • SPG81
    • autosomal recessive complex SPG due to Kennedy pathway dysfunction
    • autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
    • spastic paraplegia 81 autosomal recessive
Homo sapiens (human)
DOID:0080552
  • congenital disorder of glycosylation Ia
  • Aliases:
    • PMM2-congenital disorder of glycosylation
    • congenital disorder of glycosylation 1a
Saccharomyces cerevisiae S288C
DOID:1802
  • mononeuritis
Homo sapiens (human)
DOID:0080347
  • malignant pheochromocytoma
  • Aliases:
    • Pheochromocytoma, malignant
Homo sapiens (human)
DOID:9553
  • adrenal gland disease
Homo sapiens (human)
DOID:4265
  • angiomyoma
  • Aliases:
    • vascular leiomyoma
Homo sapiens (human)
DOID:890
  • mitochondrial encephalomyopathy
Homo sapiens (human)
DOID:2436
  • glomangioma
  • Aliases:
    • Glomuvenous Malformation
Homo sapiens (human)
DOID:0070285
  • primary autosomal recessive microcephaly 1
  • Aliases:
    • MCPH1
Homo sapiens (human)
DOID:0080533
  • Carney-Stratakis syndrome
Homo sapiens (human)
DOID:0060480
  • left ventricular noncompaction
  • Aliases:
    • left ventricular hypertrabeculation
Homo sapiens (human)
DOID:0060537
  • mitochondrial complex II deficiency
  • Aliases:
    • isolated mitochondrial respiratory chain complex II deficiency
    • isolated succinate-CoQ reductase deficiency
    • isolated succinate-coenzyme Q reductase deficiency
    • isolated succinate-ubiquinone reductase deficiency
Homo sapiens (human)
DOID:7505
  • small intestine benign neoplasm
  • Aliases:
    • neoplasm of small intestine
    • small intestinal neoplasm
Homo sapiens (human)
DOID:0070027
  • CST3-related cerebral amyloid angiopathy
  • Aliases:
    • Amyloidosis VI
    • Amyloidosis, Cerebroarterial, Icelandic Type
    • Cerebral Hemorrhage, Hereditary, with Amyloidosis, Icelandic Variant
    • HCHWA
    • Hereditary Cerebral Hemorrhage with Amyloidosis, Icelandic Variant
Homo sapiens (human)

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Last updated: August 19, 2024